ID MLRV_HUMAN STANDARD; PRT; 164 AA. AC P10916; DT 01-JUL-1989 (REL. 11, CREATED) DT 01-JUL-1989 (REL. 11, LAST SEQUENCE UPDATE) DT 15-DEC-1998 (REL. 37, 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; VERTEBRATA; MAMMALIA; EUTHERIA; OC PRIMATES; CATARRHINI; HOMINIDAE; HOMO. RN [1] RP SEQUENCE FROM N.A. RC TISSUE=HEART; RX MEDLINE; 89202052. 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 EMBL/GENBANK/DDBJ DATA BANKS. RN [3] RP SEQUENCE OF 137-143. RC TISSUE=HEART; RX MEDLINE; 96007936. 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 [4] RP VARIANTS MVC THR-12; LYS-21 AND ALA-93. RX MEDLINE; 96241574. 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 [5] RP VARIANTS FHC LEU-17 AND GLN-56. RX MEDLINE; 98195232. 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 AN 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 -!- THIS CHAIN BINDS CALCIUM. CC -!- SIMILARITY: TO OTHER EF-HAND CALCIUM BINDING PROTEINS. CC -------------------------------------------------------------------------- CC This SWISS-PROT entry is copyright. It is produced through a collaboration CC between the Swiss Institute of Bioinformatics and the EMBL outstation - CC the European Bioinformatics Institute. There are no restrictions on its CC use by non-profit institutions as long as its content is in no way CC modified and this statement is not removed. Usage by and for commercial CC entities requires a license agreement (See http://www.isb-sib.ch/announce/ CC or send an email to license@isb-sib.ch). CC -------------------------------------------------------------------------- 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; G34687; -. DR EMBL; M22815; G1220301; -. DR PIR; S03708; MOHUL2. DR HSC-2DPAGE; P10916; HUMAN. DR MIM; 160781; -. DR PROSITE; PS00018; EF_HAND; 1. DR PFAM; PF00036; efhand; 2. DR HSSP; P13543; 1SCM. KW MYOSIN; CALCIUM-BINDING; MUSCLE PROTEIN; MULTIGENE FAMILY; KW DISEASE MUTATION. FT INIT_MET 0 0 FT CA_BIND 36 47 FT VARIANT 12 12 A -> T (IN MVC). FT VARIANT 17 17 F -> L (IN FHC). FT VARIANT 21 21 E -> K (IN MVC). FT VARIANT 56 56 R -> Q (IN FHC). FT VARIANT 93 93 P -> A (IN MVC). SQ SEQUENCE 164 AA; 18601 MW; 3470A329 CRC32; APKKAKKRAG GANSNVFSMF EQTQIQEFKE AFTIMDQNRD GFIDKNDLRD TFAALRVNVK NEEIDEMIKE APGPINFTVF LTMFGEKLKG ADPEETILNA FKVFDPEGKG VLKADYVREM LTTQAERFSK EEVDQMFAAF PPDVTGNLDY KNLVHIITHG EEKD //