ID CO4A5_HUMAN Reviewed; 1685 AA. AC P29400; Q16006; Q16126; Q6LD84; Q7Z700; Q9NUB7; DT 01-DEC-1992, integrated into UniProtKB/Swiss-Prot. DT 01-FEB-1994, sequence version 2. DT 27-MAR-2024, entry version 245. DE RecName: Full=Collagen alpha-5(IV) chain; DE Flags: Precursor; GN Name=COL4A5; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=8120014; DOI=10.1016/s0021-9258(17)37416-1; RA Zhou J., Leinonen A., Tryggvason K.; RT "Structure of the human type IV collagen COL4A5 gene."; RL J. Biol. Chem. 269:6608-6614(1994). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., RA Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE OF 1-910, AND VARIANT ATS1 CYS-521. RC TISSUE=Kidney; RX PubMed=1352287; DOI=10.1016/s0021-9258(18)42301-0; RA Zhou J., Hertz J.M., Leinonen A., Tryggvason K.; RT "Complete amino acid sequence of the human alpha 5 (IV) collagen chain and RT identification of a single-base mutation in exon 23 converting glycine 521 RT in the collagenous domain to cysteine in an Alport syndrome patient."; RL J. Biol. Chem. 267:12475-12481(1992). RN [5] RP NUCLEOTIDE SEQUENCE [MRNA] OF 85-1685. RC TISSUE=Placenta; RX PubMed=2380186; DOI=10.1016/s0021-9258(18)77414-0; RA Pihlajaniemi T., Pohjolainen E.R., Myers J.C.; RT "Complete primary structure of the triple-helical region and the carboxyl- RT terminal domain of a new type IV collagen chain, alpha 5(IV)."; RL J. Biol. Chem. 265:13758-13766(1990). RN [6] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 924-1685. RX PubMed=2004755; DOI=10.1016/0888-7543(91)90214-y; RA Zhou J., Hostikka S.L., Chow L.T., Tryggvason K.; RT "Characterization of the 3' half of the human type IV collagen alpha 5 gene RT that is affected in the Alport syndrome."; RL Genomics 9:1-9(1991). RN [7] RP NUCLEOTIDE SEQUENCE [MRNA] OF 914-1685. RX PubMed=1689491; DOI=10.1073/pnas.87.4.1606; RA Hostikka S.L., Eddy R.L., Byers M.G., Hoeyhtyae M., Shows T.B., RA Tryggvason K.; RT "Identification of a distinct type IV collagen alpha chain with restricted RT kidney distribution and assignment of its gene to the locus of X RT chromosome-linked Alport syndrome."; RL Proc. Natl. Acad. Sci. U.S.A. 87:1606-1610(1990). RN [8] RP NUCLEOTIDE SEQUENCE OF 1442-1471. RX PubMed=2339699; RA Myers J.C., Jones T.A., Pohjolainen E.R., Kadri A.S., Goddard A.D., RA Sheer D., Solomon E., Pihlajaniemi T.; RT "Molecular cloning of alpha 5(IV) collagen and assignment of the gene to RT the region of the X chromosome containing the Alport syndrome locus."; RL Am. J. Hum. Genet. 46:1024-1033(1990). RN [9] RP NUCLEOTIDE SEQUENCE OF 1-20. RA Guo C., van Damme B., Vanrenterghem Y., Devriendt K., Cassiman J.-J., RA Marynen P.; RL Submitted (SEP-1994) to the EMBL/GenBank/DDBJ databases. RN [10] RP NUCLEOTIDE SEQUENCE OF 1258-1270 (ISOFORM 2). RX PubMed=8301933; DOI=10.1038/ki.1993.384; RA Guo C., van Damme B., van Damme-Lombaerts R., van den Berghe H., RA Cassiman J.-J., Marynen P.; RT "Differential splicing of COL4A5 mRNA in kidney and white blood cells: a RT complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 RT domain."; RL Kidney Int. 44:1316-1321(1993). RN [11] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1589-1598 AND 1677-1685, AND VARIANTS RP ATS1 1597-TYR--THR-1685 DEL AND 1679-GLN--THR-1685 DEL. RX PubMed=7853788; DOI=10.1038/ki.1994.399; RA Nakazato H., Hattori S., Ushijima T., Matsuura T., Koitabashi Y., RA Takada T., Yoshioka K., Endo F., Matsuda I.; RT "Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in RT primordial germ cells."; RL Kidney Int. 46:1307-1314(1994). RN [12] RP REVIEW ON VARIANTS. RX PubMed=9195222; RX DOI=10.1002/(sici)1098-1004(1997)9:6<477::aid-humu1>3.0.co;2-#; RA Lemmink H.H., Schroeder C.H., Monnens L.A.H., Smeets H.J.M.; RT "The clinical spectrum of type IV collagen mutations."; RL Hum. Mutat. 9:477-499(1997). RN [13] RP VARIANT ATS1 SER-1564. RX PubMed=1672282; DOI=10.1016/0888-7543(91)90215-z; RA Zhou J., Barker D.F., Hostikka S.L., Gregory M.C., Atkin C.L., RA Tryggvason K.; RT "Single base mutation in alpha 5(IV) collagen chain gene converting a RT conserved cysteine to serine in Alport syndrome."; RL Genomics 9:10-18(1991). RN [14] RP VARIANT ATS1 ARG-325. RX PubMed=1376965; RA Knebelmann B., Deschenes G., Gros F., Hors M.-C., Gruenfeld J.-P., RA Tryggvason K., Gubler M.-C., Antignac C.; RT "Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) RT chain associated with X-linked Alport syndrome: characterization of the RT mutation by direct sequencing of PCR-amplified lymphoblast cDNA RT fragments."; RL Am. J. Hum. Genet. 51:135-142(1992). RN [15] RP VARIANT ATS1 GLU-325. RX PubMed=1363780; DOI=10.1093/hmg/1.2.127; RA Renieri A., Seri M., Myers J.C., Pihlajaniemi T., Massella L., RA Rizzoni G.F., de Marchi M.; RT "De novo mutation in the COL4A5 gene converting glycine 325 to glutamic RT acid in Alport syndrome."; RL Hum. Mol. Genet. 1:127-129(1992). RN [16] RP VARIANTS ATS1 THR-1517; SER-1538 AND GLN-1563. RX PubMed=8406498; DOI=10.1006/geno.1993.1351; RA Lemmink H.L., Schroeder C.H., Brunner H.G., Nelen M.R., Zhou J., RA Tryggvason K., Haggsma-Schouten W.A.G., Roodvoets A.P., Rascher W., RA van Oost B.A., Smeets H.J.M.; RT "Identification of four novel mutations in the COL4A5 gene of patients with RT Alport syndrome."; RL Genomics 17:485-489(1993). RN [17] RP INVOLVEMENT IN DL-ATS. RX PubMed=8356449; DOI=10.1126/science.8356449; RA Zhou J., Mochizuki T., Smeets H., Antignac C., Laurila P., de Paepe A., RA Tryggvason K., Reeders S.T.; RT "Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in RT inherited smooth muscle tumors."; RL Science 261:1167-1169(1993). RN [18] RP VARIANTS ATS1 GLU-400; VAL-406; VAL-638; ALA-638; ARG-653; ARG-796; RP ARG-869; ARG-872 AND CYS-1241. RX PubMed=7599631; DOI=10.1002/humu.1380050303; RA Boye E., Flinter F., Zhou J., Tryggvason K., Bobrow M., Harris A.; RT "Detection of 12 novel mutations in the collagenous domain of the COL4A5 RT gene in Alport syndrome patients."; RL Hum. Mutat. 5:197-204(1995). RN [19] RP VARIANT ATS1 ARG-1649. RX PubMed=8651292; RA Barker D.F., Pruchno C.J., Jiang X., Atkin C.L., Stone E.M., Denison J.C., RA Fain P.R., Gregory M.C.; RT "A mutation causing Alport syndrome with tardive hearing loss is common in RT the western United States."; RL Am. J. Hum. Genet. 58:1157-1165(1996). RN [20] RP VARIANTS ATS1. RX PubMed=8651296; RA Renieri A., Bruttini M., Galli L., Zanelli P., Neri T.M., Rossetti S., RA Turco A.E., Heiskari N., Zhou J., Gusmano R., Massella L., Banfi G., RA Scolari F., Sessa A., Rizzoni G.F., Tryggvason K., Pignatti P.F., Savi M., RA Ballabio A., de Marchi M.; RT "X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons RT of the COL4A5 gene."; RL Am. J. Hum. Genet. 58:1192-1204(1996). RN [21] RP VARIANTS ATS1, AND VARIANTS ASP-430; SER-444; SER-619; ASN-664 AND RP MET-1428. RX PubMed=8940267; RA Knebelmann B., Breillat C., Forestier L., Arrondel C., Jacassier D., RA Giatras I., Drouot L., Deschenes G., Gruenfeld J.-P., Broyer M., RA Gubler M.-C., Antignac C.; RT "Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport RT syndrome."; RL Am. J. Hum. Genet. 59:1221-1232(1996). RN [22] RP VARIANT ATS1 ASP-1498. RX PubMed=8829632; RX DOI=10.1002/(sici)1098-1004(1996)7:2<149::aid-humu9>3.0.co;2-7; RA Tverskaya S., Bobrynina V., Tsalykova F., Ignatova M., Krasnopolskaya X., RA Evgrafov O.; RT "Substitution of A1498D in noncollagen domain of a5(IV) collagen chain RT associated with adult-onset X-linked Alport syndrome."; RL Hum. Mutat. 7:149-150(1996). RN [23] RP VARIANT ATS1 GLN-1677. RX PubMed=9150741; DOI=10.1007/s004390050429; RA Barker D.F., Denison J.C., Atkin C.L., Gregory M.C.; RT "Common ancestry of three Ashkenazi-American families with Alport syndrome RT and COL4A5 R1677Q."; RL Hum. Genet. 99:681-684(1997). RN [24] RP VARIANTS ATS1 ARG-174; ARG-177; ARG-325; CYS-1410; TRP-1421; THR-1517 AND RP ASP-1596. RX PubMed=9452056; DOI=10.1002/humu.1380110135; RA Neri T.M., Zanelli P., de Palma G., Savi M., Rossetti S., Turco A.E., RA Pignatti G.F., Galli L., Bruttini M., Renieri A., Mingarelli R., RA Trivelli A., Pinciaroli A.R., Ragaiolo M., Rizzoni G.F., de Marchi M.; RT "Missense mutations in the COL4A5 gene in patients with X-linked Alport RT syndrome."; RL Hum. Mutat. Suppl. 1:S106-S109(1998). RN [25] RP VARIANTS ATS1 VAL-420; 456-PRO--PRO-458 DEL; ASP-573; ASP-624; ASP-635; RP 802-GLY--PRO-807 DEL; ARG-869; CYS-941; SER-1030; SER-1066; ASP-1143; RP ARG-1196; GLU-1261; SER-1357 AND ARG-1649. RX PubMed=9848783; DOI=10.1681/asn.v9122291; RA Martin P., Heiskari N., Zhou J., Leinonen A., Tumelius T., Hertz J.M., RA Barker D.F., Gregory M.C., Atkin C.L., Styrkarsdottir U., Neumann H., RA Springate J., Shows T.B., Pettersson E., Tryggvason K.; RT "High mutation detection rate in the COL4A5 collagen gene in suspected RT Alport syndrome using PCR and direct DNA sequencing."; RL J. Am. Soc. Nephrol. 9:2291-2301(1998). RN [26] RP VARIANTS ATS1 GLU-579; LYS-633; ASP-947; VAL-953; ARG-1107; ARG-1158; RP SER-1170 AND TRP-1678, AND VARIANTS SER-444 AND ALA-739. RX PubMed=10561141; DOI=10.1016/s0272-6386(99)70042-9; RA Inoue Y., Nishio H., Shirakawa T., Nakanishi K., Nakamura H., Sumino K., RA Nishiyama K., Iijima K., Yoshikawa N.; RT "Detection of mutations in the COL4A5 gene in over 90% of male patients RT with X-linked Alport's syndrome by RT-PCR and direct sequencing."; RL Am. J. Kidney Dis. 34:854-862(1999). RN [27] RP VARIANT ATS1 ARG-822. RX PubMed=10563487; DOI=10.1034/j.1399-0004.1999.560312.x; RA Cruz-Robles D., Garcia-Torres R., Antignac C., Forestier L., RA Garcia de la Puente S., Correa-Rotter R., Garcia-Lopez E., Orozco L.; RT "Three novel mutations in the COL4A5 gene in Mexican Alport syndrome RT patients."; RL Clin. Genet. 56:242-243(1999). RN [28] RP VARIANTS ATS1, AND VARIANTS. RX PubMed=10094548; RX DOI=10.1002/(sici)1098-1004(1999)13:2<124::aid-humu4>3.0.co;2-z; RA Plant K.E., Green P.M., Vetrie D., Flinter F.A.; RT "Detection of mutations in COL4A5 in patients with Alport syndrome."; RL Hum. Mutat. 13:124-132(1999). RN [29] RP VARIANT ATS1 CYS-177. RX PubMed=11004279; DOI=10.1016/s0002-9394(00)00466-9; RA Blasi M.A., Rinaldi R., Renieri A., Petrucci R., De Bernardo C., RA Bruttini M., Grammatico P.; RT "Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in RT the COL4A5 gene."; RL Am. J. Ophthalmol. 130:130-131(2000). RN [30] RP VARIANTS ATS1 ARG-216; ARG-415; GLU-1045; ASP-1086; SER-1167 AND RP 864-SER--GLY-875 DEL. RX PubMed=10862091; RX DOI=10.1002/1098-1004(200006)15:6<579::aid-humu13>3.0.co;2-k; RA Martin P., Heiskari N., Pajari H., Groenhagen-Riska C., Kaeaeriaeinen H., RA Koskimies O., Tryggvason K.; RT "Spectrum of COL4A5 mutations in Finnish Alport syndrome patients."; RL Hum. Mutat. 15:579-579(2000). RN [31] RP VARIANTS ATS1 ARG-319; SER-739; VAL-902; GLU-911; ASP-1229 AND HIS-1511. RX PubMed=10684360; DOI=10.1007/s004670050025; RA Cheong H.I., Park H.W., Ha I.S., Choi Y.; RT "Mutational analysis of COL4A5 gene in Korean Alport syndrome."; RL Pediatr. Nephrol. 14:117-121(2000). RN [32] RP VARIANTS ATS1 ARG-192; ARG-292; ASP-295; ARG-325; ARG-558; VAL-603; RP ASP-624; ASP-629; GLU-722; VAL-898; ALA-1006; VAL-1006; ASP-1244; ARG-1649 RP AND PRO-1677, AND VARIANT SER-444. RX PubMed=11223851; RX DOI=10.1002/1096-8628(20010115)98:2<148::aid-ajmg1024>3.0.co;2-w; RA Barker D.F., Denison J.C., Atkin C.L., Gregory M.C.; RT "Efficient detection of Alport syndrome COL4A5 mutations with multiplex RT genomic PCR-SSCP."; RL Am. J. Med. Genet. 98:148-160(2001). RN [33] RP INVOLVEMENT IN DL-ATS. RX PubMed=12784310; DOI=10.1002/ajmg.a.20019; RA Anker M.C., Arnemann J., Neumann K., Ahrens P., Schmidt H., Koenig R.; RT "Alport syndrome with diffuse leiomyomatosis."; RL Am. J. Med. Genet. A 119:381-385(2003). RN [34] RP VARIANT ATS1 GLU-123. RX PubMed=24522658; DOI=10.1007/s11033-014-3227-1; RA Guo Y., Yuan J., Liang H., Xiao J., Xu H., Yuan L., Gao K., Wu B., Tang Y., RA Li X., Deng H.; RT "Identification of a novel COL4A5 mutation in a Chinese family with X- RT linked Alport syndrome using exome sequencing."; RL Mol. Biol. Rep. 41:3631-3635(2014). CC -!- FUNCTION: Type IV collagen is the major structural component of CC glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork CC together with laminins, proteoglycans and entactin/nidogen. CC -!- SUBUNIT: There are six type IV collagen isoforms, alpha 1(IV)-alpha CC 6(IV), each of which can form a triple helix structure with 2 other CC chains to generate type IV collagen network. CC -!- INTERACTION: CC P29400-2; Q8TB40: ABHD4; NbExp=3; IntAct=EBI-12211159, EBI-7131019; CC P29400-2; P05067: APP; NbExp=3; IntAct=EBI-12211159, EBI-77613; CC P29400-2; Q99437: ATP6V0B; NbExp=3; IntAct=EBI-12211159, EBI-3904417; CC P29400-2; Q8WZ55: BSND; NbExp=3; IntAct=EBI-12211159, EBI-7996695; CC P29400-2; P19397: CD53; NbExp=3; IntAct=EBI-12211159, EBI-6657396; CC P29400-2; P11912: CD79A; NbExp=3; IntAct=EBI-12211159, EBI-7797864; CC P29400-2; Q9HA82: CERS4; NbExp=3; IntAct=EBI-12211159, EBI-2622997; CC P29400-2; O95471: CLDN7; NbExp=3; IntAct=EBI-12211159, EBI-740744; CC P29400-2; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-12211159, EBI-18535450; CC P29400-2; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-12211159, EBI-781551; CC P29400-2; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-12211159, EBI-18304435; CC P29400-2; O15552: FFAR2; NbExp=3; IntAct=EBI-12211159, EBI-2833872; CC P29400-2; Q8TED1: GPX8; NbExp=3; IntAct=EBI-12211159, EBI-11721746; CC P29400-2; P48051: KCNJ6; NbExp=3; IntAct=EBI-12211159, EBI-12017638; CC P29400-2; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-12211159, EBI-11956541; CC P29400-2; Q9H2K0: MTIF3; NbExp=3; IntAct=EBI-12211159, EBI-3923617; CC P29400-2; Q68D85: NCR3LG1; NbExp=3; IntAct=EBI-12211159, EBI-14061804; CC P29400-2; O14524-2: NEMP1; NbExp=3; IntAct=EBI-12211159, EBI-10969203; CC P29400-2; Q8NC24: RELL2; NbExp=3; IntAct=EBI-12211159, EBI-10269209; CC P29400-2; Q9NR31: SAR1A; NbExp=3; IntAct=EBI-12211159, EBI-3920694; CC P29400-2; Q96EP9: SLC10A4; NbExp=3; IntAct=EBI-12211159, EBI-17456472; CC P29400-2; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-12211159, EBI-18159983; CC P29400-2; P54219-3: SLC18A1; NbExp=3; IntAct=EBI-12211159, EBI-17595455; CC P29400-2; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-12211159, EBI-17295964; CC P29400-2; Q9NP94: SLC39A2; NbExp=3; IntAct=EBI-12211159, EBI-12898013; CC P29400-2; Q8WY91: THAP4; NbExp=3; IntAct=EBI-12211159, EBI-726691; CC P29400-2; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-12211159, EBI-11742770; CC P29400-2; Q5TGU0: TSPO2; NbExp=3; IntAct=EBI-12211159, EBI-12195249; CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular CC matrix, basement membrane. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=P29400-1; Sequence=Displayed; CC Name=2; CC IsoId=P29400-2; Sequence=VSP_001173; CC -!- TISSUE SPECIFICITY: Isoform 2 is found in kidney. CC -!- DOMAIN: Alpha chains of type IV collagen have a non-collagenous domain CC (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats CC in the long central triple-helical domain (which may cause flexibility CC in the triple helix), and a short N-terminal triple-helical 7S domain. CC -!- PTM: Prolines at the third position of the tripeptide repeating unit CC (G-X-Y) are hydroxylated in some or all of the chains. CC -!- PTM: Type IV collagens contain numerous cysteine residues which are CC involved in inter- and intramolecular disulfide bonding. 12 of these, CC located in the NC1 domain, are conserved in all known type IV CC collagens. CC -!- PTM: The trimeric structure of the NC1 domains is stabilized by CC covalent bonds between Lys and Met residues. {ECO:0000250}. CC -!- DISEASE: Alport syndrome 1, X-linked (ATS1) [MIM:301050]: A syndrome CC that is characterized by progressive glomerulonephritis, renal failure, CC sensorineural deafness, specific eye abnormalities (lenticonous and CC macular flecks), and glomerular basement membrane defects. The disorder CC shows considerable heterogeneity in that families differ in the age of CC end-stage renal disease and the occurrence of deafness. CC {ECO:0000269|PubMed:10094548, ECO:0000269|PubMed:10561141, CC ECO:0000269|PubMed:10563487, ECO:0000269|PubMed:10684360, CC ECO:0000269|PubMed:10862091, ECO:0000269|PubMed:11004279, CC ECO:0000269|PubMed:11223851, ECO:0000269|PubMed:1352287, CC ECO:0000269|PubMed:1363780, ECO:0000269|PubMed:1376965, CC ECO:0000269|PubMed:1672282, ECO:0000269|PubMed:24522658, CC ECO:0000269|PubMed:7599631, ECO:0000269|PubMed:7853788, CC ECO:0000269|PubMed:8406498, ECO:0000269|PubMed:8651292, CC ECO:0000269|PubMed:8651296, ECO:0000269|PubMed:8829632, CC ECO:0000269|PubMed:8940267, ECO:0000269|PubMed:9150741, CC ECO:0000269|PubMed:9452056, ECO:0000269|PubMed:9848783}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Note=Deletions covering the N-terminal regions of COL4A5 and CC COL4A6, which are localized in a head-to-head manner, are found in the CC chromosome Xq22.3 centromeric deletion syndrome. This results in a CC phenotype with features of diffuse leiomyomatosis and Alport syndrome CC (DL-ATS). CC -!- MISCELLANEOUS: [Isoform 2]: Contains 2 extra G-X-X repeats into the CC triple-helix domain. {ECO:0000305}. CC -!- SIMILARITY: Belongs to the type IV collagen family. CC {ECO:0000255|PROSITE-ProRule:PRU00736}. CC -!- WEB RESOURCE: Name=Alport syndrome and COL4A5; CC URL="http://www.arup.utah.edu/database/ALPORT/ALPORT_welcome.php"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; M58526; AAA99480.1; -; mRNA. DR EMBL; AL034369; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL035425; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL031622; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL136364; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471120; EAX02683.1; -; Genomic_DNA. DR EMBL; M90464; AAA52046.1; -; mRNA. DR EMBL; U04520; AAC27816.1; -; Genomic_DNA. DR EMBL; U04470; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04471; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04472; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04473; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04474; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04476; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04477; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04478; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04479; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04480; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04483; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04485; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04486; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04487; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04488; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04489; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04490; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04491; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04492; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04493; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04494; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04495; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04496; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04497; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04498; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04499; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04500; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04501; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04502; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04503; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04504; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04505; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04506; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04507; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04508; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04509; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04510; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04511; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04512; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04514; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04515; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04516; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04517; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04518; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04519; AAC27816.1; JOINED; Genomic_DNA. DR EMBL; U04520; AAF66217.2; -; Genomic_DNA. DR EMBL; U04470; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04471; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04472; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04473; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04474; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04476; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04477; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04478; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04479; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04480; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04483; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04485; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04486; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04487; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04488; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04489; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04490; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04491; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04492; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04493; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04494; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04495; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04496; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04497; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04498; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04499; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04500; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04501; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04502; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04503; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04504; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04505; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04506; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04507; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04508; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04509; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04510; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; AF199451; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; AF199452; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04511; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04512; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04514; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04515; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04516; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04517; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04518; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; U04519; AAF66217.2; JOINED; Genomic_DNA. DR EMBL; M63473; AAA51558.1; -; Genomic_DNA. DR EMBL; M63455; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63456; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63457; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63458; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63459; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63460; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63461; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63462; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63463; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63464; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63465; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63466; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63467; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63468; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63470; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63471; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M63472; AAA51558.1; JOINED; Genomic_DNA. DR EMBL; M31115; AAA52045.1; -; mRNA. DR EMBL; Z37153; CAA85512.1; -; Genomic_DNA. DR EMBL; S69168; AAC60612.1; -; mRNA. DR EMBL; S59334; AAD13909.1; -; mRNA. DR EMBL; S75903; AAB33374.1; -; Genomic_DNA. DR CCDS; CCDS14543.1; -. [P29400-1] DR CCDS; CCDS35366.1; -. [P29400-2] DR PIR; S22917; S22917. DR RefSeq; NP_000486.1; NM_000495.4. [P29400-1] DR RefSeq; NP_203699.1; NM_033380.2. [P29400-2] DR PDB; 5NAZ; X-ray; 1.85 A; A=1457-1685. DR PDB; 6WKU; X-ray; 1.76 A; A=1461-1685. DR PDBsum; 5NAZ; -. DR PDBsum; 6WKU; -. DR AlphaFoldDB; P29400; -. DR SMR; P29400; -. DR BioGRID; 107684; 57. DR ComplexPortal; CPX-1724; Collagen type IV trimer variant 2. DR ComplexPortal; CPX-1725; Collagen type IV trimer variant 3. DR IntAct; P29400; 51. DR MINT; P29400; -. DR STRING; 9606.ENSP00000331902; -. DR ChEMBL; CHEMBL2364188; -. DR GlyCosmos; P29400; 1 site, No reported glycans. DR GlyGen; P29400; 2 sites, 1 O-linked glycan (1 site). DR iPTMnet; P29400; -. DR PhosphoSitePlus; P29400; -. DR BioMuta; COL4A5; -. DR DMDM; 461675; -. DR EPD; P29400; -. DR jPOST; P29400; -. DR MassIVE; P29400; -. DR MaxQB; P29400; -. DR PaxDb; 9606-ENSP00000331902; -. DR PeptideAtlas; P29400; -. DR ProteomicsDB; 54566; -. [P29400-1] DR ProteomicsDB; 54567; -. [P29400-2] DR Antibodypedia; 56249; 243 antibodies from 22 providers. DR DNASU; 1287; -. DR Ensembl; ENST00000328300.11; ENSP00000331902.7; ENSG00000188153.14. [P29400-2] DR Ensembl; ENST00000361603.7; ENSP00000354505.2; ENSG00000188153.14. [P29400-1] DR GeneID; 1287; -. DR KEGG; hsa:1287; -. DR MANE-Select; ENST00000328300.11; ENSP00000331902.7; NM_033380.3; NP_203699.1. [P29400-2] DR UCSC; uc004enz.3; human. [P29400-1] DR AGR; HGNC:2207; -. DR CTD; 1287; -. DR DisGeNET; 1287; -. DR GeneCards; COL4A5; -. DR GeneReviews; COL4A5; -. DR HGNC; HGNC:2207; COL4A5. DR HPA; ENSG00000188153; Low tissue specificity. DR MalaCards; COL4A5; -. DR MIM; 301050; phenotype. DR MIM; 303630; gene. DR neXtProt; NX_P29400; -. DR OpenTargets; ENSG00000188153; -. DR Orphanet; 653722; Digenic Alport syndrome. DR Orphanet; 97562; NON RARE IN EUROPE: Benign familial hematuria. DR Orphanet; 88917; X-linked Alport syndrome. DR Orphanet; 1018; X-linked Alport syndrome-diffuse leiomyomatosis. DR PharmGKB; PA26722; -. DR VEuPathDB; HostDB:ENSG00000188153; -. DR eggNOG; KOG3544; Eukaryota. DR GeneTree; ENSGT00940000162034; -. DR HOGENOM; CLU_002023_0_0_1; -. DR InParanoid; P29400; -. DR OMA; SNNESCG; -. DR OrthoDB; 2882192at2759; -. DR TreeFam; TF344135; -. DR PathwayCommons; P29400; -. DR Reactome; R-HSA-1442490; Collagen degradation. DR Reactome; R-HSA-1474244; Extracellular matrix organization. DR Reactome; R-HSA-1650814; Collagen biosynthesis and modifying enzymes. DR Reactome; R-HSA-186797; Signaling by PDGF. DR Reactome; R-HSA-2022090; Assembly of collagen fibrils and other multimeric structures. DR Reactome; R-HSA-216083; Integrin cell surface interactions. DR Reactome; R-HSA-2214320; Anchoring fibril formation. DR Reactome; R-HSA-2243919; Crosslinking of collagen fibrils. DR Reactome; R-HSA-3000157; Laminin interactions. DR Reactome; R-HSA-3000171; Non-integrin membrane-ECM interactions. DR Reactome; R-HSA-3000178; ECM proteoglycans. DR Reactome; R-HSA-419037; NCAM1 interactions. DR Reactome; R-HSA-8948216; Collagen chain trimerization. DR Reactome; R-HSA-9010553; Regulation of expression of SLITs and ROBOs. DR SignaLink; P29400; -. DR SIGNOR; P29400; -. DR BioGRID-ORCS; 1287; 15 hits in 773 CRISPR screens. DR ChiTaRS; COL4A5; human. DR GeneWiki; COL4A5; -. DR GenomeRNAi; 1287; -. DR Pharos; P29400; Tbio. DR PRO; PR:P29400; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; P29400; Protein. DR Bgee; ENSG00000188153; Expressed in mucosa of stomach and 184 other cell types or tissues. DR ExpressionAtlas; P29400; baseline and differential. DR GO; GO:0005604; C:basement membrane; IBA:GO_Central. DR GO; GO:0005587; C:collagen type IV trimer; TAS:ProtInc. DR GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:BHF-UCL. DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome. DR GO; GO:0005576; C:extracellular region; TAS:Reactome. DR GO; GO:0005615; C:extracellular space; IBA:GO_Central. DR GO; GO:0031594; C:neuromuscular junction; IEA:Ensembl. DR GO; GO:0030020; F:extracellular matrix structural constituent conferring tensile strength; HDA:BHF-UCL. DR GO; GO:0038063; P:collagen-activated tyrosine kinase receptor signaling pathway; IEA:Ensembl. DR GO; GO:0030198; P:extracellular matrix organization; IBA:GO_Central. DR GO; GO:0007528; P:neuromuscular junction development; IEA:Ensembl. DR Gene3D; 2.170.240.10; Collagen IV, non-collagenous; 1. DR InterPro; IPR008160; Collagen. DR InterPro; IPR001442; Collagen_IV_NC. DR InterPro; IPR036954; Collagen_IV_NC_sf. DR InterPro; IPR016187; CTDL_fold. DR PANTHER; PTHR24023; COLLAGEN ALPHA; 1. DR PANTHER; PTHR24023:SF1077; COLLAGEN ALPHA-3(IV) CHAIN; 1. DR Pfam; PF01413; C4; 2. DR Pfam; PF01391; Collagen; 18. DR SMART; SM00111; C4; 2. DR SUPFAM; SSF56436; C-type lectin-like; 2. DR PROSITE; PS51403; NC1_IV; 1. DR Genevisible; P29400; HS. PE 1: Evidence at protein level; KW 3D-structure; Alport syndrome; Alternative splicing; Basement membrane; KW Chromosomal rearrangement; Collagen; Deafness; Disease variant; KW Disulfide bond; Extracellular matrix; Glycoprotein; Hydroxylation; KW Reference proteome; Repeat; Secreted; Signal. FT SIGNAL 1..26 FT /evidence="ECO:0000255" FT CHAIN 27..1685 FT /note="Collagen alpha-5(IV) chain" FT /id="PRO_0000005852" FT DOMAIN 1461..1685 FT /note="Collagen IV NC1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT REGION 27..41 FT /note="Nonhelical region (NC2)" FT REGION 42..1456 FT /note="Triple-helical region" FT REGION 49..1459 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 87..105 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 139..153 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 171..213 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 265..279 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 286..303 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 380..402 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 415..462 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 607..629 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 705..766 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 806..833 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 849..880 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 997..1018 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1039..1053 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1122..1146 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1232..1273 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1394..1408 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT CARBOHYD 125 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT DISULFID 451 FT /note="Interchain" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT DISULFID 481 FT /note="Interchain" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT DISULFID 484 FT /note="Interchain" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT DISULFID 1476..1567 FT /note="Or C-1476 with C-1564" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT DISULFID 1509..1564 FT /note="Or C-1509 with C-1567" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT DISULFID 1521..1527 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT DISULFID 1586..1681 FT /note="Or C-1586 with C-1678" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT DISULFID 1620..1678 FT /note="Or C-1620 with C-1681" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT DISULFID 1632..1638 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736" FT CROSSLNK 1549 FT /note="S-Lysyl-methionine sulfilimine (Met-Lys) (interchain FT with K-1667)" FT /evidence="ECO:0000250" FT CROSSLNK 1667 FT /note="S-Lysyl-methionine sulfilimine (Lys-Met) (interchain FT with M-1549)" FT /evidence="ECO:0000250" FT VAR_SEQ 1264 FT /note="G -> GPTGFQG (in isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_001173" FT VARIANT 54 FT /note="G -> D (in ATS1; adult type; dbSNP:rs104886043)" FT /id="VAR_001914" FT VARIANT 114 FT /note="G -> S (in ATS1)" FT /id="VAR_007991" FT VARIANT 123 FT /note="G -> E (in ATS1; dbSNP:rs1569488429)" FT /evidence="ECO:0000269|PubMed:24522658" FT /id="VAR_071932" FT VARIANT 129 FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs281874723)" FT /id="VAR_001915" FT VARIANT 129 FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs281874723)" FT /id="VAR_001916" FT VARIANT 174 FT /note="G -> R (in ATS1; dbSNP:rs104886055)" FT /evidence="ECO:0000269|PubMed:9452056" FT /id="VAR_001917" FT VARIANT 177 FT /note="G -> C (in ATS1; presenting with dot-and-fleck FT retinopathy; dbSNP:rs104886056)" FT /evidence="ECO:0000269|PubMed:11004279" FT /id="VAR_011220" FT VARIANT 177 FT /note="G -> R (in ATS1; adult type; dbSNP:rs104886056)" FT /evidence="ECO:0000269|PubMed:9452056" FT /id="VAR_001918" FT VARIANT 192 FT /note="G -> R (in ATS1; dbSNP:rs104886060)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011221" FT VARIANT 204 FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886063)" FT /id="VAR_011222" FT VARIANT 216 FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886067)" FT /evidence="ECO:0000269|PubMed:10862091" FT /id="VAR_001919" FT VARIANT 219 FT /note="G -> S (in ATS1; dbSNP:rs104886075)" FT /id="VAR_001920" FT VARIANT 230 FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886076)" FT /id="VAR_011223" FT VARIANT 239 FT /note="G -> E (in ATS1; dbSNP:rs104886068)" FT /id="VAR_011224" FT VARIANT 264 FT /note="G -> R (in ATS1; adult type; dbSNP:rs104886069)" FT /id="VAR_011225" FT VARIANT 289 FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886450)" FT /id="VAR_001921" FT VARIANT 292 FT /note="G -> R (in ATS1; dbSNP:rs104886073)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011226" FT VARIANT 292 FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886078)" FT /id="VAR_001922" FT VARIANT 295 FT /note="G -> D (in ATS1; dbSNP:rs104886079)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011227" FT VARIANT 298 FT /note="G -> S (in ATS1; dbSNP:rs104886080)" FT /id="VAR_011228" FT VARIANT 319 FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886085)" FT /evidence="ECO:0000269|PubMed:10684360" FT /id="VAR_011229" FT VARIANT 325 FT /note="G -> E (in ATS1; dbSNP:rs104886091)" FT /evidence="ECO:0000269|PubMed:1363780" FT /id="VAR_001923" FT VARIANT 325 FT /note="G -> R (in ATS1; juvenile and adult types; FT dbSNP:rs104886088)" FT /evidence="ECO:0000269|PubMed:11223851, FT ECO:0000269|PubMed:1376965, ECO:0000269|PubMed:9452056" FT /id="VAR_001924" FT VARIANT 331 FT /note="G -> V (in ATS1; dbSNP:rs104886092)" FT /id="VAR_007992" FT VARIANT 365..367 FT /note="Missing (in ATS1; juvenile type)" FT /id="VAR_001926" FT VARIANT 365 FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886096)" FT /id="VAR_001925" FT VARIANT 371 FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886097)" FT /id="VAR_001927" FT VARIANT 374 FT /note="G -> A (in ATS1; dbSNP:rs104886108)" FT /id="VAR_001928" FT VARIANT 383 FT /note="G -> D (in ATS1; juvenile type; dbSNP:rs104886105)" FT /id="VAR_001929" FT VARIANT 400 FT /note="G -> E (in ATS1; adult type; dbSNP:rs104886107)" FT /evidence="ECO:0000269|PubMed:7599631" FT /id="VAR_001930" FT VARIANT 406 FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886100)" FT /evidence="ECO:0000269|PubMed:7599631" FT /id="VAR_001931" FT VARIANT 409 FT /note="G -> D (in ATS1; dbSNP:rs104886101)" FT /id="VAR_001932" FT VARIANT 412 FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886102)" FT /id="VAR_011230" FT VARIANT 415 FT /note="G -> R (in ATS1; dbSNP:rs104886103)" FT /evidence="ECO:0000269|PubMed:10862091" FT /id="VAR_011231" FT VARIANT 420 FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs281874663)" FT /id="VAR_011232" FT VARIANT 420 FT /note="G -> V (in ATS1; dbSNP:rs281874663)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_011233" FT VARIANT 423 FT /note="G -> E (in ATS1; dbSNP:rs104886110)" FT /id="VAR_011234" FT VARIANT 430 FT /note="A -> D (in dbSNP:rs142883891)" FT /evidence="ECO:0000269|PubMed:8940267" FT /id="VAR_001933" FT VARIANT 444 FT /note="I -> S (in dbSNP:rs2272946)" FT /evidence="ECO:0000269|PubMed:10561141, FT ECO:0000269|PubMed:11223851, ECO:0000269|PubMed:8940267" FT /id="VAR_001934" FT VARIANT 456..458 FT /note="Missing (in ATS1)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_001935" FT VARIANT 466 FT /note="G -> E (in ATS1; dbSNP:rs104886114)" FT /id="VAR_001936" FT VARIANT 472 FT /note="G -> R (in ATS1; dbSNP:rs104886116)" FT /id="VAR_007993" FT VARIANT 491 FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886117)" FT /id="VAR_011235" FT VARIANT 494 FT /note="G -> D (in ATS1; adult type; dbSNP:rs104886118)" FT /id="VAR_001937" FT VARIANT 496..507 FT /note="Missing (in ATS1; juvenile type)" FT /id="VAR_001938" FT VARIANT 497 FT /note="G -> C (in ATS1; adult type; dbSNP:rs104886120)" FT /id="VAR_011236" FT VARIANT 521 FT /note="G -> C (in ATS1; dbSNP:rs104886121)" FT /evidence="ECO:0000269|PubMed:1352287" FT /id="VAR_001939" FT VARIANT 521 FT /note="G -> S (in ATS1; dbSNP:rs104886121)" FT /id="VAR_001940" FT VARIANT 524 FT /note="G -> D (in ATS1; adult type; dbSNP:rs104886119)" FT /id="VAR_011237" FT VARIANT 545 FT /note="G -> R (in ATS1; dbSNP:rs104886126)" FT /id="VAR_007994" FT VARIANT 545 FT /note="G -> V (in ATS1; dbSNP:rs104886127)" FT /id="VAR_007995" FT VARIANT 558 FT /note="G -> R (in ATS1; dbSNP:rs104886129)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011238" FT VARIANT 561 FT /note="G -> R (in ATS1; dbSNP:rs104886136)" FT /id="VAR_007996" FT VARIANT 567 FT /note="G -> A (in ATS1; juvenile type; dbSNP:rs104886137)" FT /id="VAR_001941" FT VARIANT 573 FT /note="G -> D (in ATS1; dbSNP:rs104886138)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_011239" FT VARIANT 579 FT /note="G -> E (in ATS1; dbSNP:rs104886130)" FT /evidence="ECO:0000269|PubMed:10561141" FT /id="VAR_011240" FT VARIANT 579 FT /note="G -> R (in ATS1; adult type; dbSNP:rs104886139)" FT /id="VAR_007997" FT VARIANT 603 FT /note="G -> V (in ATS1; dbSNP:rs104886133)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011241" FT VARIANT 609 FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886135)" FT /id="VAR_011242" FT VARIANT 609 FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886140)" FT /id="VAR_001942" FT VARIANT 619 FT /note="P -> S (in dbSNP:rs1569494314)" FT /evidence="ECO:0000269|PubMed:8940267" FT /id="VAR_011243" FT VARIANT 621 FT /note="G -> C (in ATS1; dbSNP:rs104886141)" FT /id="VAR_011244" FT VARIANT 624 FT /note="G -> D (in ATS1; dbSNP:rs104886142)" FT /evidence="ECO:0000269|PubMed:11223851, FT ECO:0000269|PubMed:9848783" FT /id="VAR_011245" FT VARIANT 629 FT /note="G -> D (in ATS1; dbSNP:rs104886144)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011246" FT VARIANT 632 FT /note="G -> D (in ATS1; dbSNP:rs104886145)" FT /id="VAR_011247" FT VARIANT 633 FT /note="E -> K (in ATS1; dbSNP:rs104886146)" FT /evidence="ECO:0000269|PubMed:10561141" FT /id="VAR_011248" FT VARIANT 635 FT /note="G -> D (in ATS1; dbSNP:rs281874683)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_007998" FT VARIANT 638 FT /note="G -> A (in ATS1; dbSNP:rs104886134)" FT /evidence="ECO:0000269|PubMed:7599631" FT /id="VAR_001944" FT VARIANT 638 FT /note="G -> S (in ATS1; juvenile type; dbSNP:rs104886147)" FT /id="VAR_007999" FT VARIANT 638 FT /note="G -> V (in ATS1; dbSNP:rs104886134)" FT /evidence="ECO:0000269|PubMed:7599631" FT /id="VAR_001943" FT VARIANT 653 FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886150)" FT /evidence="ECO:0000269|PubMed:7599631" FT /id="VAR_001945" FT VARIANT 664 FT /note="K -> N (in dbSNP:rs34077552)" FT /evidence="ECO:0000269|PubMed:8940267" FT /id="VAR_001946" FT VARIANT 669 FT /note="G -> A (in ATS1; juvenile type; dbSNP:rs104886151)" FT /id="VAR_008000" FT VARIANT 681 FT /note="G -> D (in ATS1; dbSNP:rs104886158)" FT /id="VAR_011249" FT VARIANT 684 FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886160)" FT /id="VAR_001947" FT VARIANT 687 FT /note="G -> E (in ATS1; dbSNP:rs104886168)" FT /id="VAR_008001" FT VARIANT 722 FT /note="G -> E (in ATS1; dbSNP:rs104886163)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011250" FT VARIANT 739 FT /note="P -> A (in dbSNP:rs104886164)" FT /evidence="ECO:0000269|PubMed:10561141" FT /id="VAR_011251" FT VARIANT 739 FT /note="P -> S (in ATS1; juvenile type; dbSNP:rs104886164)" FT /evidence="ECO:0000269|PubMed:10684360" FT /id="VAR_011252" FT VARIANT 740 FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886165)" FT /id="VAR_001948" FT VARIANT 743 FT /note="G -> D (in ATS1; dbSNP:rs104886166)" FT /id="VAR_008002" FT VARIANT 772 FT /note="G -> D (in ATS1; juvenile type; dbSNP:rs104886173)" FT /id="VAR_001949" FT VARIANT 796 FT /note="G -> R (in ATS1; dbSNP:rs104886177)" FT /evidence="ECO:0000269|PubMed:7599631" FT /id="VAR_001950" FT VARIANT 802..807 FT /note="Missing (in ATS1)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_011254" FT VARIANT 802 FT /note="G -> R (in ATS1; dbSNP:rs104886179)" FT /id="VAR_011253" FT VARIANT 808 FT /note="G -> E (in ATS1; adult type; dbSNP:rs104886180)" FT /id="VAR_008003" FT VARIANT 811 FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886183)" FT /id="VAR_011255" FT VARIANT 822..824 FT /note="Missing (in ATS1)" FT /id="VAR_008004" FT VARIANT 822 FT /note="G -> R (in ATS1; dbSNP:rs104886184)" FT /evidence="ECO:0000269|PubMed:10563487" FT /id="VAR_011256" FT VARIANT 852 FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886187)" FT /id="VAR_008005" FT VARIANT 852 FT /note="G -> R (in ATS1; dbSNP:rs104886186)" FT /id="VAR_001951" FT VARIANT 864..875 FT /note="Missing (in ATS1)" FT /evidence="ECO:0000269|PubMed:10862091" FT /id="VAR_011257" FT VARIANT 866 FT /note="G -> E (in ATS1; adult type; dbSNP:rs104886188)" FT /id="VAR_001952" FT VARIANT 869 FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886189)" FT /evidence="ECO:0000269|PubMed:7599631, FT ECO:0000269|PubMed:9848783" FT /id="VAR_001953" FT VARIANT 872 FT /note="G -> R (in ATS1; dbSNP:rs104886190)" FT /evidence="ECO:0000269|PubMed:7599631" FT /id="VAR_001954" FT VARIANT 878 FT /note="G -> R (in ATS1)" FT /id="VAR_008006" FT VARIANT 898 FT /note="M -> V (in ATS1; mild phenotype; dbSNP:rs104886192)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011258" FT VARIANT 902 FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886361)" FT /evidence="ECO:0000269|PubMed:10684360" FT /id="VAR_011259" FT VARIANT 911 FT /note="G -> E (in ATS1; dbSNP:rs104886363)" FT /evidence="ECO:0000269|PubMed:10684360" FT /id="VAR_011260" FT VARIANT 941 FT /note="G -> C (in ATS1; dbSNP:rs104886196)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_011261" FT VARIANT 942 FT /note="Missing (in ATS1)" FT /id="VAR_001955" FT VARIANT 947 FT /note="G -> D (in ATS1; dbSNP:rs104886370)" FT /evidence="ECO:0000269|PubMed:10561141" FT /id="VAR_011262" FT VARIANT 953 FT /note="G -> V (in ATS1; found on the same allele as variant FT Glu-1211; dbSNP:rs78972735)" FT /evidence="ECO:0000269|PubMed:10561141" FT /id="VAR_011263" FT VARIANT 988..992 FT /note="Missing (in ATS1; adult type)" FT /id="VAR_008007" FT VARIANT 1006 FT /note="G -> A (in ATS1)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011264" FT VARIANT 1006 FT /note="G -> V (in ATS1; dbSNP:rs104886202)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011265" FT VARIANT 1015 FT /note="G -> E (in ATS1)" FT /id="VAR_011266" FT VARIANT 1015 FT /note="G -> V (in ATS1; dbSNP:rs104886211)" FT /id="VAR_011267" FT VARIANT 1030 FT /note="G -> S (in ATS1; dbSNP:rs104886210)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_011268" FT VARIANT 1036 FT /note="G -> V (in ATS1; dbSNP:rs104886212)" FT /id="VAR_011269" FT VARIANT 1039 FT /note="G -> S (in ATS1; juvenile type; dbSNP:rs104886214)" FT /id="VAR_011270" FT VARIANT 1045 FT /note="G -> E (in ATS1; dbSNP:rs104886215)" FT /evidence="ECO:0000269|PubMed:10862091" FT /id="VAR_011271" FT VARIANT 1066 FT /note="G -> R (in ATS1; dbSNP:rs104886219)" FT /id="VAR_011272" FT VARIANT 1066 FT /note="G -> S (in ATS1; dbSNP:rs104886219)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_011273" FT VARIANT 1086 FT /note="G -> D (in ATS1; dbSNP:rs104886232)" FT /evidence="ECO:0000269|PubMed:10862091" FT /id="VAR_011274" FT VARIANT 1104 FT /note="G -> V (in ATS1; dbSNP:rs104886224)" FT /id="VAR_001956" FT VARIANT 1107 FT /note="G -> R (in ATS1; dbSNP:rs104886225)" FT /evidence="ECO:0000269|PubMed:10561141" FT /id="VAR_008008" FT VARIANT 1143 FT /note="G -> D (in ATS1; juvenile type; dbSNP:rs104886229)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_001957" FT VARIANT 1143 FT /note="G -> S (in ATS1; adult type; dbSNP:rs104886228)" FT /id="VAR_001958" FT VARIANT 1158 FT /note="G -> R (in ATS1; dbSNP:rs104886389)" FT /evidence="ECO:0000269|PubMed:10561141" FT /id="VAR_011275" FT VARIANT 1161 FT /note="G -> R (in ATS1; dbSNP:rs104886235)" FT /id="VAR_008009" FT VARIANT 1167 FT /note="G -> S (in ATS1; dbSNP:rs104886236)" FT /evidence="ECO:0000269|PubMed:10862091" FT /id="VAR_011276" FT VARIANT 1170 FT /note="G -> S (in ATS1; dbSNP:rs104886237)" FT /evidence="ECO:0000269|PubMed:10561141" FT /id="VAR_011277" FT VARIANT 1182 FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886242)" FT /id="VAR_001959" FT VARIANT 1196 FT /note="G -> R (in ATS1; dbSNP:rs104886244)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_011278" FT VARIANT 1205 FT /note="G -> C (in ATS1; juvenile type; dbSNP:rs104886245)" FT /id="VAR_011279" FT VARIANT 1211 FT /note="G -> E (in ATS1; found on the same allele as variant FT Val-953; dbSNP:rs104886247)" FT /id="VAR_011280" FT VARIANT 1211 FT /note="G -> R (in ATS1; dbSNP:rs104886246)" FT /id="VAR_008010" FT VARIANT 1220 FT /note="G -> D (in ATS1; dbSNP:rs104886251)" FT /id="VAR_008011" FT VARIANT 1229 FT /note="G -> D (in ATS1; adult type; dbSNP:rs104886253)" FT /evidence="ECO:0000269|PubMed:10684360" FT /id="VAR_011281" FT VARIANT 1241 FT /note="G -> C (in ATS1; dbSNP:rs104886255)" FT /evidence="ECO:0000269|PubMed:7599631" FT /id="VAR_001960" FT VARIANT 1244 FT /note="G -> D (in ATS1; dbSNP:rs104886261)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011282" FT VARIANT 1252 FT /note="G -> S (in ATS1; adult type; dbSNP:rs104886262)" FT /id="VAR_011283" FT VARIANT 1261 FT /note="G -> E (in ATS1; dbSNP:rs104886264)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_011284" FT VARIANT 1270 FT /note="G -> S (in ATS1; dbSNP:rs104886257)" FT /id="VAR_001961" FT VARIANT 1333 FT /note="G -> S (in ATS1; dbSNP:rs104886266)" FT /id="VAR_008012" FT VARIANT 1357 FT /note="G -> S (in ATS1; dbSNP:rs104886267)" FT /evidence="ECO:0000269|PubMed:9848783" FT /id="VAR_011285" FT VARIANT 1379 FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886269)" FT /id="VAR_001962" FT VARIANT 1410 FT /note="R -> C (in ATS1; adult and juvenile types; FT dbSNP:rs104886270)" FT /evidence="ECO:0000269|PubMed:9452056" FT /id="VAR_001963" FT VARIANT 1421 FT /note="G -> W (in ATS1; adult type; dbSNP:rs104886272)" FT /evidence="ECO:0000269|PubMed:9452056" FT /id="VAR_001964" FT VARIANT 1422 FT /note="R -> C (in ATS1; juvenile type; dbSNP:rs144282156)" FT /id="VAR_001965" FT VARIANT 1427 FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886274)" FT /id="VAR_008013" FT VARIANT 1428 FT /note="L -> M (in dbSNP:rs1569508163)" FT /evidence="ECO:0000269|PubMed:8940267" FT /id="VAR_011286" FT VARIANT 1442 FT /note="G -> D (in ATS1; dbSNP:rs104886277)" FT /id="VAR_008014" FT VARIANT 1451 FT /note="G -> S (in ATS1; dbSNP:rs104886280)" FT /id="VAR_001966" FT VARIANT 1486 FT /note="G -> A (in ATS1; adult type; dbSNP:rs104886282)" FT /id="VAR_008015" FT VARIANT 1488 FT /note="S -> F (in ATS1; dbSNP:rs104886283)" FT /id="VAR_011287" FT VARIANT 1498 FT /note="A -> D (in ATS1; dbSNP:rs104886284)" FT /evidence="ECO:0000269|PubMed:8829632" FT /id="VAR_001967" FT VARIANT 1511 FT /note="R -> H (in ATS1; uncertain significance; juvenile FT type; dbSNP:rs104886285)" FT /evidence="ECO:0000269|PubMed:10684360" FT /id="VAR_011288" FT VARIANT 1517 FT /note="P -> T (in ATS1; juvenile type; dbSNP:rs201220208)" FT /evidence="ECO:0000269|PubMed:8406498, FT ECO:0000269|PubMed:9452056" FT /id="VAR_001968" FT VARIANT 1538 FT /note="W -> S (in ATS1; adult type; dbSNP:rs104886293)" FT /evidence="ECO:0000269|PubMed:8406498" FT /id="VAR_001969" FT VARIANT 1559 FT /note="P -> A (in dbSNP:rs104886295)" FT /id="VAR_008016" FT VARIANT 1563 FT /note="R -> Q (in ATS1; dbSNP:rs281874743)" FT /evidence="ECO:0000269|PubMed:8406498" FT /id="VAR_001970" FT VARIANT 1564 FT /note="C -> S (in ATS1; adult type; dbSNP:rs104886287)" FT /evidence="ECO:0000269|PubMed:1672282" FT /id="VAR_001971" FT VARIANT 1567 FT /note="C -> R (in ATS1; juvenile type; dbSNP:rs104886288)" FT /id="VAR_011289" FT VARIANT 1596 FT /note="G -> D (in ATS1; dbSNP:rs104886297)" FT /evidence="ECO:0000269|PubMed:9452056" FT /id="VAR_001972" FT VARIANT 1597..1685 FT /note="Missing (in ATS1)" FT /evidence="ECO:0000269|PubMed:7853788" FT /id="VAR_019594" FT VARIANT 1649 FT /note="L -> R (in ATS1; adult type; dbSNP:rs104886303)" FT /evidence="ECO:0000269|PubMed:11223851, FT ECO:0000269|PubMed:8651292, ECO:0000269|PubMed:9848783" FT /id="VAR_001973" FT VARIANT 1677 FT /note="R -> P (in ATS1; dbSNP:rs104886308)" FT /evidence="ECO:0000269|PubMed:11223851" FT /id="VAR_011290" FT VARIANT 1677 FT /note="R -> Q (in ATS1; dbSNP:rs104886308)" FT /evidence="ECO:0000269|PubMed:9150741" FT /id="VAR_001974" FT VARIANT 1678 FT /note="C -> W (in ATS1; dbSNP:rs104886311)" FT /evidence="ECO:0000269|PubMed:10561141" FT /id="VAR_011291" FT VARIANT 1679..1685 FT /note="Missing (in ATS1)" FT /evidence="ECO:0000269|PubMed:7853788" FT /id="VAR_019595" FT CONFLICT 440..441 FT /note="AG -> GS (in Ref. 5; AAA99480)" FT /evidence="ECO:0000305" FT CONFLICT 625..628 FT /note="FGPP -> LALQ (in Ref. 5; AAA99480)" FT /evidence="ECO:0000305" FT CONFLICT 667..668 FT /note="LP -> FR (in Ref. 5; AAA99480)" FT /evidence="ECO:0000305" FT CONFLICT 888 FT /note="A -> R (in Ref. 5; AAA99480)" FT /evidence="ECO:0000305" FT STRAND 1461..1467 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1469..1472 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1481..1494 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1497..1500 FT /evidence="ECO:0007829|PDB:6WKU" FT HELIX 1506..1508 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1509..1512 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1518..1521 FT /evidence="ECO:0007829|PDB:6WKU" FT TURN 1523..1525 FT /evidence="ECO:0007829|PDB:5NAZ" FT STRAND 1527..1530 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1535..1540 FT /evidence="ECO:0007829|PDB:6WKU" FT HELIX 1554..1560 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1563..1571 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1573..1577 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1579..1582 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1590..1603 FT /evidence="ECO:0007829|PDB:6WKU" FT HELIX 1605..1607 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1609..1611 FT /evidence="ECO:0007829|PDB:6WKU" FT HELIX 1617..1619 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1620..1623 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1629..1633 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1636..1639 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1645..1650 FT /evidence="ECO:0007829|PDB:6WKU" FT HELIX 1654..1656 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1657..1659 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1664..1666 FT /evidence="ECO:0007829|PDB:6WKU" FT HELIX 1668..1670 FT /evidence="ECO:0007829|PDB:6WKU" FT HELIX 1672..1674 FT /evidence="ECO:0007829|PDB:6WKU" FT STRAND 1677..1683 FT /evidence="ECO:0007829|PDB:6WKU" SQ SEQUENCE 1685 AA; 161044 MW; 4450A6762F12A626 CRC64; MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER GFPGLEGHPG LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF PGTPGLPGMP GHDGAPGPQG IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG IQGLPGPTGI PGPIGPPGPP GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP PGQISEQKRP IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG TGITIGEKGN IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG FPGERGQKGD EGPPGISIPG PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT CFNCIGTGIS GPPGQPGLPG LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF PGSKGEPGDI LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG PKGDPGQTIT QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE PGIPGIGLPG PPGPKGFPGI PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE PGFALPGPPG PPGLPGFKGA LGPKGDRGFP GPPGPPGRTG LDGLPGPKGD VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG IPGEKGDPGP PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG PPGPMDPNLL GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG LPGPPGPKGN PGLPGQPGLI GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG PKGEPGLPGY PGNPGIKGSV GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG NPGLPGEPGP VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP KGNPGPQGPP GRPGLPGPEG PPGLPGNGGI KGEKGNPGQP GLPGLPGLKG DQGPPGLQGN PGRPGLNGMK GDPGLPGVPG FPGMKGPSGV PGSAGPEGEP GLIGPPGPPG LPGPSGQSII IKGDAGPPGI PGQPGLKGLP GPQGPQGLPG PTGPPGDPGR NGLPGFDGAG GRKGDPGLPG QPGTRGLDGP PGPDGLQGPP GPPGTSSVAH GFLITRHSQT TDAPQCPQGT LQVYEGFSLL YVQGNKRAHG QDLGTAGSCL RRFSTMPFMF CNINNVCNFA SRNDYSYWLS TPEPMPMSMQ PLKGQSIQPF ISRCAVCEAP AVVIAVHSQT IQIPHCPQGW DSLWIGYSFM MHTSAGAEGS GQALASPGSC LEEFRSAPFI ECHGRGTCNY YANSYSFWLA TVDVSDMFSK PQSETLKAGD LRTRISRCQV CMKRT //