ID PCD19_HUMAN Reviewed; 1148 AA. AC Q8TAB3; B0LDS4; E9PAM6; Q5JTG1; Q5JTG2; Q68DT7; Q9P2N3; DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot. DT 16-AUG-2005, sequence version 3. DT 03-MAY-2023, entry version 179. DE RecName: Full=Protocadherin-19; DE Flags: Precursor; GN Name=PCDH19; Synonyms=KIAA1313; 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 [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL RP STAGE, AND VARIANTS DEE9 GLU-441 AND LYS-557. RX PubMed=18469813; DOI=10.1038/ng.149; RA Dibbens L.M., Tarpey P.S., Hynes K., Bayly M.A., Scheffer I.E., Smith R., RA Bomar J., Sutton E., Vandeleur L., Shoubridge C., Edkins S., Turner S.J., RA Stevens C., O'Meara S., Tofts C., Barthorpe S., Buck G., Cole J., RA Halliday K., Jones D., Lee R., Madison M., Mironenko T., Varian J., RA West S., Widaa S., Wray P., Teague J., Dicks E., Butler A., Menzies A., RA Jenkinson A., Shepherd R., Gusella J.F., Afawi Z., Mazarib A., RA Neufeld M.Y., Kivity S., Lev D., Lerman-Sagie T., Korczyn A.D., Derry C.P., RA Sutherland G.R., Friend K., Shaw M., Corbett M., Kim H.-G., Geschwind D.H., RA Thomas P., Haan E., Ryan S., McKee S., Berkovic S.F., Futreal P.A., RA Stratton M.R., Mulley J.C., Gecz J.; RT "X-linked protocadherin 19 mutations cause female-limited epilepsy and RT cognitive impairment."; RL Nat. Genet. 40:776-781(2008). 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 MRNA] OF 482-1148 (ISOFORM 2). RC TISSUE=Amygdala; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., RA Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 704-1148 (ISOFORM 2). RC TISSUE=Brain; RX PubMed=10718198; DOI=10.1093/dnares/7.1.65; RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XVI. The RT complete sequences of 150 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 7:65-73(2000). RN [5] RP GENE STRUCTURE, AND TISSUE SPECIFICITY. RX PubMed=11549318; DOI=10.1006/geno.2001.6592; RA Wolverton T., Lalande M.; RT "Identification and characterization of three members of a novel subclass RT of protocadherins."; RL Genomics 76:66-72(2001). RN [6] RP INVOLVEMENT IN DEE9. RX PubMed=20830798; DOI=10.1002/ajmg.a.33611; RA Jamal S.M., Basran R.K., Newton S., Wang Z., Milunsky J.M.; RT "Novel de novo PCDH19 mutations in three unrelated females with epilepsy RT female restricted mental retardation syndrome."; RL Am. J. Med. Genet. A 152:2475-2481(2010). RN [7] RP VARIANTS DEE9 ASN-121; GLN-199; SER-340 AND PRO-543, AND VARIANT GLY-1107. RX PubMed=19214208; DOI=10.1371/journal.pgen.1000381; RA Depienne C., Bouteiller D., Keren B., Cheuret E., Poirier K., RA Trouillard O., Benyahia B., Quelin C., Carpentier W., Julia S., Afenjar A., RA Gautier A., Rivier F., Meyer S., Berquin P., Helias M., Py I., Rivera S., RA Bahi-Buisson N., Gourfinkel-An I., Cazeneuve C., Ruberg M., Brice A., RA Nabbout R., Leguern E.; RT "Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 RT resembles Dravet syndrome but mainly affects females."; RL PLoS Genet. 5:E1000381-E1000381(2009). RN [8] RP VARIANTS DEE9 PRO-276 AND LYS-557, AND VARIANTS GLN-958 AND GLY-1107. RX PubMed=19752159; DOI=10.1136/jmg.2009.068817; RA Hynes K., Tarpey P., Dibbens L.M., Bayly M.A., Berkovic S.F., Smith R., RA Raisi Z.A., Turner S.J., Brown N.J., Desai T.D., Haan E., Turner G., RA Christodoulou J., Leonard H., Gill D., Stratton M.R., Gecz J., RA Scheffer I.E.; RT "Epilepsy and mental retardation limited to females with PCDH19 mutations RT can present de novo or in single generation families."; RL J. Med. Genet. 47:211-216(2010). RN [9] RP VARIANTS DEE9 PRO-203; CYS-206; SER-340; HIS-377; ILE-404 AND GLN-414. RX PubMed=20713952; DOI=10.1212/wnl.0b013e3181ed9e67; RA Marini C., Mei D., Parmeggiani L., Norci V., Calado E., Ferrari A., RA Moreira A., Pisano T., Specchio N., Vigevano F., Battaglia D., Guerrini R.; RT "Protocadherin 19 mutations in girls with infantile-onset epilepsy."; RL Neurology 75:646-653(2010). RN [10] RP VARIANTS DEE9 SER-236; SER-340; PRO-433 AND ARG-513. RX PubMed=21480887; DOI=10.1111/j.1528-1167.2011.03063.x; RA Specchio N., Marini C., Terracciano A., Mei D., Trivisano M., Sicca F., RA Fusco L., Cusmai R., Darra F., Bernardina B.D., Bertini E., Guerrini R., RA Vigevano F.; RT "Spectrum of phenotypes in female patients with epilepsy due to RT protocadherin 19 mutations."; RL Epilepsia 52:1251-1257(2011). RN [11] RP VARIANTS DEE9 ARG-81; SER-GLU-ALA-141 INS; ARG-146; TYR-206; ASP-249; RP GLU-341; ARG-561; LEU-567 AND ASN-618. RX PubMed=21053371; DOI=10.1002/humu.21373; RA Depienne C., Trouillard O., Bouteiller D., Gourfinkel-An I., Poirier K., RA Rivier F., Berquin P., Nabbout R., Chaigne D., Steschenko D., Gautier A., RA Hoffman-Zacharska D., Lannuzel A., Lackmy-Port-Lis M., Maurey H., RA Dusser A., Bru M., Gilbert-Dussardier B., Roubertie A., Kaminska A., RA Whalen S., Mignot C., Baulac S., Lesca G., Arzimanoglou A., LeGuern E.; RT "Mutations and deletions in PCDH19 account for various familial or isolated RT epilepsies in females."; RL Hum. Mutat. 32:E1959-E1975(2011). RN [12] RP VARIANTS DEE9 PRO-25 AND SER-340. RX PubMed=21519002; DOI=10.1212/wnl.0b013e318217e7b6; RA Dibbens L.M., Kneen R., Bayly M.A., Heron S.E., Arsov T., Damiano J.A., RA Desai T., Gibbs J., McKenzie F., Mulley J.C., Ronan A., Scheffer I.E.; RT "Recurrence risk of epilepsy and mental retardation in females due to RT parental mosaicism of PCDH19 mutations."; RL Neurology 76:1514-1519(2011). RN [13] RP VARIANTS DEE9 GLY-72; LEU-191 AND SER-340, AND VARIANTS HIS-1107 AND RP HIS-1134. RX PubMed=22050978; DOI=10.1016/j.eplepsyres.2011.10.014; RA Higurashi N., Shi X., Yasumoto S., Oguni H., Sakauchi M., Itomi K., RA Miyamoto A., Shiraishi H., Kato T., Makita Y., Hirose S.; RT "PCDH19 mutation in Japanese females with epilepsy."; RL Epilepsy Res. 99:28-37(2012). RN [14] RP VARIANTS DEE9 THR-153; ARG-190; SER-232; SER-234; ASP-262; ARG-344; GLU-377 RP AND MET-642, AND VARIANTS CYS-980; VAL-1094 AND HIS-1134. RX PubMed=22267240; DOI=10.1002/humu.22029; RA Depienne C., Leguern E.; RT "PCDH19-related infantile epileptic encephalopathy: An unusual X-linked RT inheritance disorder."; RL Hum. Mutat. 33:627-634(2012). RN [15] RP VARIANT DEE9 158-SER--LEU-1148 DEL. RX PubMed=25818041; DOI=10.1111/epi.12954; RA Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D., RA Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A., Moharir M., RA Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III; RT "Diagnostic yield of genetic testing in epileptic encephalopathy in RT childhood."; RL Epilepsia 56:707-716(2015). RN [16] RP VARIANTS DEE9 ASN-230 AND LEU-236. RX PubMed=26993267; DOI=10.1136/jmedgenet-2015-103263; RA Trump N., McTague A., Brittain H., Papandreou A., Meyer E., Ngoh A., RA Palmer R., Morrogh D., Boustred C., Hurst J.A., Jenkins L., Kurian M.A., RA Scott R.H.; RT "Improving diagnosis and broadening the phenotypes in early-onset seizure RT and severe developmental delay disorders through gene panel analysis."; RL J. Med. Genet. 53:310-317(2016). RN [17] RP VARIANT HIS-447. RX PubMed=27864847; DOI=10.1002/humu.23149; RG Clinical Study Group; RA Parrini E., Marini C., Mei D., Galuppi A., Cellini E., Pucatti D., RA Chiti L., Rutigliano D., Bianchini C., Virdo S., De Vita D., Bigoni S., RA Barba C., Mari F., Montomoli M., Pisano T., Rosati A., Guerrini R.; RT "Diagnostic targeted resequencing in 349 patients with drug-resistant RT pediatric epilepsies identifies causative mutations in 30 different RT genes."; RL Hum. Mutat. 38:216-225(2017). CC -!- FUNCTION: Potential calcium-dependent cell-adhesion protein. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I CC membrane protein {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q8TAB3-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8TAB3-2; Sequence=VSP_015081; CC Name=3; CC IsoId=Q8TAB3-3; Sequence=VSP_015081, VSP_054046; CC -!- TISSUE SPECIFICITY: Moderately expressed in all regions of the brain CC examined, with lowest levels found in the cerebellum. Moderate CC expression is also found in ovary, and low expression in all other CC tissues tested. Also detected in primary skin fibroblast. CC {ECO:0000269|PubMed:11549318, ECO:0000269|PubMed:18469813}. CC -!- DEVELOPMENTAL STAGE: Expressed in developing cortical plate, amygdala CC and subcortical regions and in the ganglionic eminence. CC {ECO:0000269|PubMed:18469813}. CC -!- DISEASE: Developmental and epileptic encephalopathy 9 (DEE9) CC [MIM:300088]: A condition characterized by seizure with onset in CC infancy or early childhood, cognitive impairment, and delayed CC development of variable severity in some patients. Additional features CC include autistic signs and psychosis. The disorder is sex-limited, with CC the phenotype being restricted to females. CC {ECO:0000269|PubMed:18469813, ECO:0000269|PubMed:19214208, CC ECO:0000269|PubMed:19752159, ECO:0000269|PubMed:20713952, CC ECO:0000269|PubMed:20830798, ECO:0000269|PubMed:21053371, CC ECO:0000269|PubMed:21480887, ECO:0000269|PubMed:21519002, CC ECO:0000269|PubMed:22050978, ECO:0000269|PubMed:22267240, CC ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- SEQUENCE CAUTION: CC Sequence=CAH18133.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC -!- WEB RESOURCE: Name=X-chromosome gene database Protocadherin 19 CC (PCDH19); Note=Leiden Open Variation Database (LOVD); CC URL="https://databases.lovd.nl/shared/genes/PCDH19"; 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; EF676096; ABX58058.1; -; mRNA. DR EMBL; AL355593; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CR749278; CAH18133.1; ALT_INIT; mRNA. DR EMBL; AB037734; BAA92551.1; -; mRNA. DR CCDS; CCDS43976.1; -. [Q8TAB3-2] DR CCDS; CCDS48141.1; -. [Q8TAB3-3] DR CCDS; CCDS55462.1; -. [Q8TAB3-1] DR RefSeq; NP_001098713.1; NM_001105243.1. [Q8TAB3-2] DR RefSeq; NP_001171809.1; NM_001184880.1. [Q8TAB3-1] DR RefSeq; NP_065817.2; NM_020766.2. [Q8TAB3-3] DR PDB; 6VFU; X-ray; 3.50 A; A/B/C=22-445. DR PDBsum; 6VFU; -. DR AlphaFoldDB; Q8TAB3; -. DR SMR; Q8TAB3; -. DR BioGRID; 121586; 23. DR IntAct; Q8TAB3; 4. DR STRING; 9606.ENSP00000362125; -. DR DrugBank; DB01373; Calcium. DR GlyCosmos; Q8TAB3; 6 sites, No reported glycans. DR GlyGen; Q8TAB3; 6 sites. DR iPTMnet; Q8TAB3; -. DR PhosphoSitePlus; Q8TAB3; -. DR BioMuta; PCDH19; -. DR DMDM; 73620979; -. DR EPD; Q8TAB3; -. DR jPOST; Q8TAB3; -. DR MassIVE; Q8TAB3; -. DR MaxQB; Q8TAB3; -. DR PaxDb; Q8TAB3; -. DR PeptideAtlas; Q8TAB3; -. DR ProteomicsDB; 19048; -. DR ProteomicsDB; 73850; -. [Q8TAB3-1] DR ProteomicsDB; 73851; -. [Q8TAB3-2] DR TopDownProteomics; Q8TAB3-3; -. [Q8TAB3-3] DR Antibodypedia; 429; 48 antibodies from 16 providers. DR DNASU; 57526; -. DR Ensembl; ENST00000255531.8; ENSP00000255531.7; ENSG00000165194.15. [Q8TAB3-2] DR Ensembl; ENST00000373034.8; ENSP00000362125.4; ENSG00000165194.15. [Q8TAB3-1] DR Ensembl; ENST00000420881.6; ENSP00000400327.2; ENSG00000165194.15. [Q8TAB3-3] DR GeneID; 57526; -. DR KEGG; hsa:57526; -. DR MANE-Select; ENST00000373034.8; ENSP00000362125.4; NM_001184880.2; NP_001171809.1. DR UCSC; uc004efw.5; human. [Q8TAB3-1] DR AGR; HGNC:14270; -. DR CTD; 57526; -. DR DisGeNET; 57526; -. DR GeneCards; PCDH19; -. DR HGNC; HGNC:14270; PCDH19. DR HPA; ENSG00000165194; Tissue enriched (brain). DR MalaCards; PCDH19; -. DR MIM; 300088; phenotype. DR MIM; 300460; gene. DR neXtProt; NX_Q8TAB3; -. DR OpenTargets; ENSG00000165194; -. DR Orphanet; 33069; Dravet syndrome. DR Orphanet; 101039; Female restricted epilepsy with intellectual disability. DR PharmGKB; PA33003; -. DR VEuPathDB; HostDB:ENSG00000165194; -. DR eggNOG; KOG3594; Eukaryota. DR GeneTree; ENSGT00940000159162; -. DR HOGENOM; CLU_006480_1_1_1; -. DR InParanoid; Q8TAB3; -. DR OMA; RCWMPRG; -. DR OrthoDB; 4259465at2759; -. DR PhylomeDB; Q8TAB3; -. DR TreeFam; TF352008; -. DR PathwayCommons; Q8TAB3; -. DR SignaLink; Q8TAB3; -. DR SIGNOR; Q8TAB3; -. DR BioGRID-ORCS; 57526; 10 hits in 766 CRISPR screens. DR ChiTaRS; PCDH19; human. DR GenomeRNAi; 57526; -. DR Pharos; Q8TAB3; Tbio. DR PRO; PR:Q8TAB3; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; Q8TAB3; protein. DR Bgee; ENSG00000165194; Expressed in cortical plate and 132 other tissues. DR ExpressionAtlas; Q8TAB3; baseline and differential. DR Genevisible; Q8TAB3; HS. DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell. DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro. DR GO; GO:0007155; P:cell adhesion; IBA:GO_Central. DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro. DR CDD; cd11304; Cadherin_repeat; 6. DR Gene3D; 2.60.40.60; Cadherins; 6. DR InterPro; IPR002126; Cadherin-like_dom. DR InterPro; IPR015919; Cadherin-like_sf. DR InterPro; IPR020894; Cadherin_CS. DR InterPro; IPR013164; Cadherin_N. DR PANTHER; PTHR24028; CADHERIN-87A; 1. DR PANTHER; PTHR24028:SF40; PROTOCADHERIN-19; 1. DR Pfam; PF00028; Cadherin; 5. DR Pfam; PF08266; Cadherin_2; 1. DR PRINTS; PR00205; CADHERIN. DR SMART; SM00112; CA; 6. DR SUPFAM; SSF49313; Cadherin-like; 5. DR PROSITE; PS00232; CADHERIN_1; 5. DR PROSITE; PS50268; CADHERIN_2; 6. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Calcium; Cell adhesion; Cell membrane; KW Disease variant; Epilepsy; Glycoprotein; Intellectual disability; Membrane; KW Reference proteome; Repeat; Signal; Transmembrane; Transmembrane helix. FT SIGNAL 1..21 FT /evidence="ECO:0000255" FT CHAIN 22..1148 FT /note="Protocadherin-19" FT /id="PRO_0000004003" FT TOPO_DOM 22..678 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 679..699 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 700..1148 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT DOMAIN 22..129 FT /note="Cadherin 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 130..238 FT /note="Cadherin 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 239..346 FT /note="Cadherin 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 350..453 FT /note="Cadherin 4" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 454..563 FT /note="Cadherin 5" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 569..672 FT /note="Cadherin 6" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT REGION 901..921 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 1100..1148 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 902..921 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1112..1148 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT CARBOHYD 261 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 420 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 485 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 546 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 570 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 676 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VAR_SEQ 716..762 FT /note="Missing (in isoform 2 and isoform 3)" FT /evidence="ECO:0000303|PubMed:10718198, FT ECO:0000303|PubMed:17974005" FT /id="VSP_015081" FT VAR_SEQ 892 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_054046" FT VARIANT 25 FT /note="L -> P (in DEE9)" FT /evidence="ECO:0000269|PubMed:21519002" FT /id="VAR_067472" FT VARIANT 72 FT /note="V -> G (in DEE9)" FT /evidence="ECO:0000269|PubMed:22050978" FT /id="VAR_067473" FT VARIANT 81 FT /note="L -> R (in DEE9; dbSNP:rs1569316056)" FT /evidence="ECO:0000269|PubMed:21053371" FT /id="VAR_064840" FT VARIANT 121 FT /note="D -> N (in DEE9; disease features overlapping with FT Dravet syndrome; dbSNP:rs796052795)" FT /evidence="ECO:0000269|PubMed:19214208" FT /id="VAR_064481" FT VARIANT 141 FT /note="A -> ASEA (in DEE9)" FT /id="VAR_064841" FT VARIANT 146 FT /note="T -> R (in DEE9; dbSNP:rs796052799)" FT /evidence="ECO:0000269|PubMed:21053371" FT /id="VAR_064842" FT VARIANT 153 FT /note="A -> T (in DEE9)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067474" FT VARIANT 158..1148 FT /note="Missing (in DEE9)" FT /evidence="ECO:0000269|PubMed:25818041" FT /id="VAR_078722" FT VARIANT 190 FT /note="L -> R (in DEE9)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067475" FT VARIANT 191 FT /note="V -> L (in DEE9; dbSNP:rs753757730)" FT /evidence="ECO:0000269|PubMed:22050978" FT /id="VAR_067476" FT VARIANT 199 FT /note="E -> Q (in DEE9; disease features overlapping with FT Dravet syndrome)" FT /evidence="ECO:0000269|PubMed:19214208" FT /id="VAR_064482" FT VARIANT 203 FT /note="H -> P (in DEE9; disease features overlapping with FT Dravet syndrome; associated with Cys-206)" FT /evidence="ECO:0000269|PubMed:20713952" FT /id="VAR_064483" FT VARIANT 206 FT /note="F -> C (in DEE9; disease features overlapping with FT Dravet syndrome; associated with Pro-203; FT dbSNP:rs746274631)" FT /evidence="ECO:0000269|PubMed:20713952" FT /id="VAR_064484" FT VARIANT 206 FT /note="F -> Y (in DEE9)" FT /evidence="ECO:0000269|PubMed:21053371" FT /id="VAR_064843" FT VARIANT 230 FT /note="D -> N (in DEE9; unknown pathological significance)" FT /evidence="ECO:0000269|PubMed:26993267" FT /id="VAR_078723" FT VARIANT 232 FT /note="N -> S (in DEE9; dbSNP:rs587784299)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067477" FT VARIANT 234 FT /note="N -> S (in DEE9; dbSNP:rs1555985475)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067478" FT VARIANT 236 FT /note="P -> L (in DEE9; dbSNP:rs1060502176)" FT /evidence="ECO:0000269|PubMed:26993267" FT /id="VAR_078724" FT VARIANT 236 FT /note="P -> S (in DEE9)" FT /evidence="ECO:0000269|PubMed:21480887" FT /id="VAR_067479" FT VARIANT 249 FT /note="E -> D (in DEE9)" FT /evidence="ECO:0000269|PubMed:21053371" FT /id="VAR_064844" FT VARIANT 262 FT /note="A -> D (in DEE9; dbSNP:rs1555985448)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067480" FT VARIANT 276 FT /note="S -> P (in DEE9)" FT /evidence="ECO:0000269|PubMed:19752159" FT /id="VAR_064485" FT VARIANT 340 FT /note="N -> S (in DEE9; disease features overlapping with FT Dravet syndrome; dbSNP:rs796052839)" FT /evidence="ECO:0000269|PubMed:19214208, FT ECO:0000269|PubMed:20713952, ECO:0000269|PubMed:21480887, FT ECO:0000269|PubMed:21519002, ECO:0000269|PubMed:22050978" FT /id="VAR_064486" FT VARIANT 341 FT /note="D -> E (in DEE9)" FT /evidence="ECO:0000269|PubMed:21053371" FT /id="VAR_064845" FT VARIANT 344 FT /note="P -> R (in DEE9)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067481" FT VARIANT 377 FT /note="D -> E (in DEE9)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067482" FT VARIANT 377 FT /note="D -> H (in DEE9; disease features overlapping with FT Dravet syndrome; dbSNP:rs1928407149)" FT /evidence="ECO:0000269|PubMed:20713952" FT /id="VAR_064487" FT VARIANT 404 FT /note="T -> I (in DEE9; disease features overlapping with FT Dravet syndrome)" FT /evidence="ECO:0000269|PubMed:20713952" FT /id="VAR_064488" FT VARIANT 414 FT /note="E -> Q (in DEE9; disease features overlapping with FT Dravet syndrome)" FT /evidence="ECO:0000269|PubMed:20713952" FT /id="VAR_064489" FT VARIANT 433 FT /note="L -> P (in DEE9)" FT /evidence="ECO:0000269|PubMed:21480887" FT /id="VAR_067483" FT VARIANT 441 FT /note="V -> E (in DEE9; dbSNP:rs132630323)" FT /evidence="ECO:0000269|PubMed:18469813" FT /id="VAR_046484" FT VARIANT 447 FT /note="N -> H (probable disease-associated variant found in FT a patient with drug-resistant epilepsy)" FT /evidence="ECO:0000269|PubMed:27864847" FT /id="VAR_078227" FT VARIANT 513 FT /note="G -> R (in DEE9)" FT /evidence="ECO:0000269|PubMed:21480887" FT /id="VAR_067484" FT VARIANT 543 FT /note="L -> P (in DEE9; disease features overlapping with FT Dravet syndrome)" FT /evidence="ECO:0000269|PubMed:19214208" FT /id="VAR_064490" FT VARIANT 557 FT /note="N -> K (in DEE9; dbSNP:rs267606933)" FT /evidence="ECO:0000269|PubMed:18469813, FT ECO:0000269|PubMed:19752159" FT /id="VAR_046485" FT VARIANT 561 FT /note="P -> R (in DEE9; dbSNP:rs796052819)" FT /evidence="ECO:0000269|PubMed:21053371" FT /id="VAR_064846" FT VARIANT 567 FT /note="P -> L (in DEE9; dbSNP:rs201989363)" FT /evidence="ECO:0000269|PubMed:21053371" FT /id="VAR_064847" FT VARIANT 618 FT /note="D -> N (in DEE9)" FT /evidence="ECO:0000269|PubMed:21053371" FT /id="VAR_064848" FT VARIANT 642 FT /note="V -> M (in DEE9; dbSNP:rs1221643775)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067485" FT VARIANT 958 FT /note="R -> Q (in dbSNP:rs748581653)" FT /evidence="ECO:0000269|PubMed:19752159" FT /id="VAR_064491" FT VARIANT 980 FT /note="R -> C (in dbSNP:rs3764758)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067486" FT VARIANT 1094 FT /note="L -> V (in dbSNP:rs184545774)" FT /evidence="ECO:0000269|PubMed:22267240" FT /id="VAR_067487" FT VARIANT 1107 FT /note="R -> G (in dbSNP:rs191333060)" FT /evidence="ECO:0000269|PubMed:19214208, FT ECO:0000269|PubMed:19752159" FT /id="VAR_064492" FT VARIANT 1107 FT /note="R -> H (in dbSNP:rs200021840)" FT /evidence="ECO:0000269|PubMed:22050978" FT /id="VAR_067488" FT VARIANT 1134 FT /note="N -> H (in dbSNP:rs141816797)" FT /evidence="ECO:0000269|PubMed:22050978, FT ECO:0000269|PubMed:22267240" FT /id="VAR_067489" FT CONFLICT 868 FT /note="V -> A (in Ref. 3; CAH18133)" FT /evidence="ECO:0000305" FT STRAND 23..32 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 38..40 FT /evidence="ECO:0007829|PDB:6VFU" FT HELIX 42..49 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 61..67 FT /evidence="ECO:0007829|PDB:6VFU" FT TURN 69..71 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 72..74 FT /evidence="ECO:0007829|PDB:6VFU" FT TURN 76..78 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 81..85 FT /evidence="ECO:0007829|PDB:6VFU" FT HELIX 89..92 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 100..107 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 112..120 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 130..139 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 147..149 FT /evidence="ECO:0007829|PDB:6VFU" FT HELIX 159..161 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 162..168 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 172..184 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 186..192 FT /evidence="ECO:0007829|PDB:6VFU" FT TURN 198..200 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 203..212 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 219..229 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 237..239 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 241..248 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 253..259 FT /evidence="ECO:0007829|PDB:6VFU" FT HELIX 268..271 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 273..277 FT /evidence="ECO:0007829|PDB:6VFU" FT HELIX 284..288 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 289..291 FT /evidence="ECO:0007829|PDB:6VFU" FT TURN 293..295 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 297..300 FT /evidence="ECO:0007829|PDB:6VFU" FT TURN 306..308 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 310..324 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 328..337 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 345..349 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 356..361 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 367..374 FT /evidence="ECO:0007829|PDB:6VFU" FT HELIX 379..381 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 384..388 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 393..399 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 402..407 FT /evidence="ECO:0007829|PDB:6VFU" FT TURN 413..415 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 417..431 FT /evidence="ECO:0007829|PDB:6VFU" FT STRAND 434..445 FT /evidence="ECO:0007829|PDB:6VFU" SQ SEQUENCE 1148 AA; 126253 MW; AF8721355A33C1C2 CRC64; MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG FALDPRQASA FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI ISLEVMSSSM EICVIKVEIK DLNDNAPSFP AAQIELEISE AASPGTRIPL DSAYDPDSGS FGVQTYELTP NELFGLEIKT RGDGSRFAEL VVEKSLDRET QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE STYAVSVPEN SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS VNSELVEVSE SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE SFSTILVDGR LDREQHDQYN LTIQARDGGV PMLQSAKSFT VLITDENDNH PHFSKPYYQV IVQENNTPGA YLLSVSARDP DLGLNGSVSY QIVPSQVRDM PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL PSLQSNATVR VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT SLSASALVLI YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA IKCKRDNKEI RTYNCSNCLT ITCLLGCFIK GQNSKCLHCI SVSPISEEQD KKTEEKVSLR GKRIAEYSYG HQKKSSKKKK ISKNDIRLVP RDVEETDKMN VVSCSSLTSS LNYFDYHQQT LPLGCRRSES TFLNVENQNT RNTSANHIYH HSFNSQGPQQ PDLIINGVPL PETENYSFDS NYVNSRAHLI KSSSTFKDLE GNSLKDSGHE ESDQTDSEHD VQRSLYCDTA VNDVLNTSVT SMGSQMPDHD QNEGFHCREE CRILGHSDRC WMPRNPMPIR SKSPEHVRNI IALSIEATAA DVEAYDDCGP TKRTFATFGK DVSDHPAEER PTLKGKRTVD VTICSPKVNS VIREAGNGCE AISPVTSPLH LKSSLPTKPS VSYTIALAPP ARDLEQYVNN VNNGPTRPSE AEPRGADSEK VMHEVSPILK EGRNKESPGV KRLKDIVL //