Ryanodine Receptor 1

Alternative Names

RYR1
Ryanodine Receptor, Skeletal Muscle
RYDR
Skeletal Muscle Ryanodine Receptor
SKRR
Sarcoplasmic Reticulum Calcium Release Channel

Length

153,866 bases

No. of Exons

106

No. of isoforms

Protein Name

Ryanodine receptor 1

Molecular Mass

565176 Da

Amino Acid Count

5038

Genomic Location

chr19:38,433,699-38,587,564

Gene Map Locus

19q13.2

Description

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [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_000540.2:c.8758C>T	Lebanon	NG_008866.1:g.78195C>T		Likely Pathogenic	Central Core Disease of Muscle	NG_008866.1:g.78195C>T; NM_000540.2:c.8758C>T; NP_000531.2:p.Arg2920*
NM_000540.3:c.13505A>G	United Arab Emirates	NC_000019.10:g.38566978A>G	Uncertain Significance	Likely Pathogenic	Central Core Disease of Muscle	NG_008866.1:g.138279A>G; NM_000540.3:c.13505A>G; NP_001036188.1:p.Glu4497Gly	139647387	161366
NM_000540.3:c.14209C>T	Saudi Arabia	NC_000019.10:g.38577954C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Congenital Myopathy 1B, Autosomal Recessive	NG_008866.1:g.149255C>T; NM_000540.3:c.14209C>T; NP_000531.2:p.Arg4737Trp	193922867	133060
NM_000540.3:c.6617C>T	Saudi Arabia	NC_000019.10:g.38496283C>T	Pathogenic	Likely Pathogenic	Congenital Myopathy 1B, Autosomal Recessive	NG_008866.1:g.67584C>T; NM_000540.3:c.6617C>T; NP_000531.2:p.Thr2206Met	118192177	12977

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External Links

https://ghr.nlm.nih.gov/gene/RYR1 https://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR1 https://www.ncbi.nlm.nih.gov/gene?term=6261

Contributors

Pratibha Nair: 22.03.2023
Pratibha Nair: 14.04.2020

Edit History

Pratibha Nair: 08.01.2024
Pratibha Nair: 22.03.2023
Pratibha Nair: 14.04.2020
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004
Ghazi O. Tadmouri: 28.02.2004

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