RYR1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the RYR1 gene was identified in a UDN participant with progressive muscle weakness and wasting (read full description).

Date of Report

Oct 18, 2022

Full Name

Ryanodine receptor 1

Location

Chromosome 19 (19q13.2)

Function

The RYR1 gene encodes the skeletal muscle ryanodine receptor, which serves as a calcium release channel of the sarcoplasmic reticulum as well as a bridging structure connecting the sarcoplasmic reticulum and transverse tubule (MacKenzie et al., 1990).

Database Links

GeneCards: RYR1

MedlinePlus Genetics: RYR1

NCBI Gene: 6261

OMIM: 180901

UniProtKB/Swiss-Prot: P21817

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene RYR1

Inheritance Pattern Autosomal dominant/autosomal recessive

Position (hg19) chr19:g.38989881A>G

Transcript NM_000540.2

DNA Change c.7025A>G

Protein Change p.Asn2342Ser

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