Annotation Detail
Information
- Associated Genes
- RYR1
- Associated Variants
-
RYR1 p.Arg999His (p.R999H)
(
ENST00000355481.8,
ENST00000359596.8,
ENST00000689936.2,
ENST00000713952.1,
ENST00000713953.1 )
RYR1 p.Pro3527Ser (p.P3527S) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Val4849Ile (p.V4849I) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Arg999His (p.R999H) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Pro3527Ser (p.P3527S) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Val4849Ile (p.V4849I) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 ) - Associated Disease
- Multi-core congenital myopathy
- Source Database
- DisGeNET
- Description
- In the present paper, we show, for the first time, data on the functional effect of two recently identified recessive ryanodine receptor 1 amino acid substitutions, P3527S and V4849I, as well as that of R999H, another substitution that was identified in two siblings that were affected by multi-minicore disease.
- Pubmed
- 16372898
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00407162808120455
- Year of publication
- 2006
Drugs