Ryanodine Receptor 1

Alternative Names

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

180901

NCBI Gene ID

6261

Uniprot ID

P21817

Length

153,866 bases

No. of Exons

106

No. of isoforms

3

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000540.2:c.8758C>TLebanonNG_008866.1:g.78195C>TLikely PathogenicCentral Core Disease of MuscleNG_008866.1:g.78195C>T; NM_000540.2:c.8758C>T; NP_000531.2:p.Arg2920*
NM_000540.3:c.13505A>GUnited Arab EmiratesNC_000019.10:g.38566978A>GUncertain SignificanceLikely PathogenicCentral Core Disease of MuscleNG_008866.1:g.138279A>G; NM_000540.3:c.13505A>G; NP_001036188.1:p.Glu4497Gly139647387161366
NM_000540.3:c.6617C>TSaudi ArabiaNC_000019.10:g.38496283C>TPathogenicLikely PathogenicCongenital Myopathy 1B, Autosomal RecessiveNG_008866.1:g.67584C>T; NM_000540.3:c.6617C>T; NP_000531.2:p.Thr2206Met11819217712977
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