ID MLRV_HUMAN STANDARD; PRT; 165 AA. AC P10916; Q16123; DT 01-JUL-1989 (Rel. 11, Created) DT 15-JUL-1999 (Rel. 38, Last sequence update) DT 20-AUG-2001 (Rel. 40, Last annotation update) DE MYOSIN REGULATORY LIGHT CHAIN 2, VENTRICULAR/CARDIAC MUSCLE ISOFORM DE (MLC-2). GN MYL2. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. RC TISSUE=Heart; RX MEDLINE=89202052; PubMed=2704627; RA Libera L.D., Hoffmann E., Floroff M., Jackowski G.; RT "Isolation and nucleotide sequence of the cDNA encoding human RT ventricular myosin light chain 2."; RL Nucleic Acids Res. 17:2360-2361(1989). RN [2] RP SEQUENCE FROM N.A. RC TISSUE=Muscle; RA Wu Q.L.; RL Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases. RN [3] RP SEQUENCE FROM N.A. RA Margossian S.S., Umeda P.K., Sciaky D., Anderson P.A.W.; RL Submitted (AUG-1997) to the EMBL/GenBank/DDBJ databases. RN [4] RP SEQUENCE FROM N.A. RX MEDLINE=94115365; PubMed=8287067; RA Wadgaonkar R., Shafiq S., Rajmanickam C., Siddiqui M.A.; RT "Interaction of a conserved peptide domain in recombinant human RT ventricular myosin light chain-2 with myosin heavy chain."; RL Cell. Mol. Biol. Res. 39:13-26(1993). RN [5] RP SEQUENCE OF 137-143. RC TISSUE=Heart; RX MEDLINE=96007936; PubMed=7498159; RA Kovalyov L.I., Shishkin S.S., Efimochkin A.S., Kovalyova M.A., RA Ershova E.S., Egorov T.A., Musalyamov A.K.; RT "The major protein expression profile and two-dimensional protein RT database of human heart."; RL Electrophoresis 16:1160-1169(1995). RN [6] RP VARIANTS MVC THR-12; LYS-21 AND ALA-94. RX MEDLINE=96241574; PubMed=8673105; RA Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A., RA Dalakas M.C., Rayment I., Sellers J.R., Fananapazir L., Epstein N.D.; RT "Mutations in either the essential or regulatory light chains of RT myosin are associated with a rare myopathy in human heart and RT skeletal muscle."; RL Nat. Genet. 13:63-69(1996). RN [7] RP VARIANTS FHC LEU-17 AND GLN-57. RX MEDLINE=98195232; PubMed=9535554; RA Flavigny J., Richard P., Isnard R., Carrier L., Charron P., Bonne G., RA Forissier J.F., Desnos M., Dubourg O., Komajda M., Schwartz K., RA Hainque B.; RT "Identification of two novel mutations in the ventricular regulatory RT myosin light chain gene (MYL2) associated with familial and classical RT forms of hypertrophic cardiomyopathy."; RL J. Mol. Med. 76:208-214(1998). CC -!- SUBUNIT: MYOSIN IS A HEXAMER OF 2 HEAVY CHAINS & 4 LIGHT CHAINS. CC -!- DISEASE: DEFECTS IN MYL2 ARE A CAUSE OF MID LEFT VENTRICULAR CC CHAMBER (MVC) THICKENING, A VERY RARE PHENOTYPE, EVEN AMONG CC HYPERTROPHIC CARDIOMYOPATHY (HCM) POPULATION. CC -!- DISEASE: DEFECTS IN MYL2 ARE ONE OF THE CAUSES OF FAMILIAL CC HYPERTROPHIC CARDIOMYOPATHY (FHC). CC -!- MISCELLANEOUS: THIS CHAIN BINDS CALCIUM. CC -!- SIMILARITY: TO OTHER EF-HAND CALCIUM BINDING PROTEINS. 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; X14332; CAA32510.1; -. DR EMBL; M22815; AAA91832.1; -. DR EMBL; AF020768; AAB91993.1; -. DR EMBL; S69022; AAB29658.2; -. DR PIR; S03708; MOHUL2. DR HSSP; P13543; 1SCM. DR HSC-2DPAGE; P10916; HUMAN. DR MIM; 160781; -. DR InterPro; IPR002048; EF-hand. DR Pfam; PF00036; efhand; 3. DR SMART; SM00054; EFh; 2. DR PROSITE; PS00018; EF_HAND; 1. KW Myosin; Calcium-binding; Muscle protein; Multigene family; KW Disease mutation; Cardiomyopathy. FT INIT_MET 0 0 FT CA_BIND 36 47 EF-HAND (POTENTIAL). FT VARIANT 12 12 A -> T (IN MVC). FT /FTId=VAR_004601. FT VARIANT 17 17 F -> L (IN FHC). FT /FTId=VAR_004602. FT VARIANT 21 21 E -> K (IN MVC). FT /FTId=VAR_004603. FT VARIANT 57 57 R -> Q (IN FHC). FT /FTId=VAR_004604. FT VARIANT 94 94 P -> A (IN MVC). FT /FTId=VAR_004605. SQ SEQUENCE 165 AA; 18658 MW; 5E0746D2A5A505A0 CRC64; APKKAKKRAG GANSNVFSMF EQTQIQEFKE AFTIMDQNRD GFIDKNDLRD TFAALGRVNV KNEEIDEMIK EAPGPINFTV FLTMFGEKLK GADPEETILN AFKVFDPEGK GVLKADYVRE MLTTQAERFS KEEVDQMFAA FPPDVTGNLD YKNLVHIITH GEEKD //