SH3 and Cysteine-Rich Domains 3

Alternative Names

STAC3

Length

7,736 bases

No. of Exons

No. of isoforms

Protein Name

SH3 and cysteine-rich domain-containing protein 3

Molecular Mass

41507 Da

Amino Acid Count

364

Genomic Location

chr12:57,243,452-57,251,187

Gene Map Locus

12q13.3

Description

The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_145064.3:c.851G>C	Qatar; United Arab Emi...	NC_000012.12:g.57244322C>G	Pathogenic	Pathogenic	Myopathy, Congenital, Bailey-Bloch	NG_033835.1:g.11872G>C; NM_145064.3:c.851G>C; NP_659501.1:p.Trp284Ser	140291094	88744

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External Links

https://medlineplus.gov/genetics/gene/stac3/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=stac3

Contributors

Pratibha Nair: 10.10.2021

Edit History

Pratibha Nair: 10.10.2021

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