Myosin, Light Chain 3, Alkali, Ventricular, Skeletal, Slow

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OMIM Number

160790

NCBI Gene ID

4634

Uniprot ID

P08590

Length

47,062 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Myosin light chain 3

Molecular Mass

21932 Da

Amino Acid Count

195

Genomic Location

chr3:46,835,111-46,882,172

Gene Map Locus
3p21.31

Description

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000258.3:c.311T>CLebanonchr3:46859645Likely PathogenicNG_007555.2:g.27525T>C; NM_000258.3:c.311T>C; NP_000249.1:p.Leu104Pro779469144
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