Paralogue Annotation for RYR1 residue 4942

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4942
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4942

No paralogue variants have been mapped to residue 4942 for RYR1.

RYR1	LYRVVFDITFFFFVIVILLAIIQGLIIDAF>G<ELRDQQEQVKEDMETKCFICGIGSDYFDTT	4972
RYR2	IYRIIFDITFFFFVIVILLAIIQGLIIDAF>G<ELRDQQEQVKEDMETKCFICGIGNDYFDTV	4901
RYR3	MYRIVFDITFFFFVIVILLAIIQGLIIDAF>G<ELRDQQEQVREDMETKCFICGIGNDYFDTT	4804
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4942V	c.14825G>T	Other Myopathy		rs193922896	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium. 2002 32(3):143-51. 12208234