Paralogue Annotation for RYR1 residue 4629

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4629
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4629

No paralogue variants have been mapped to residue 4629 for RYR1.

RYR1	DVSGAGSGGSSGW-GLGAGEEAEGDEDENM>V<YYFLEESTGYMEPALRCLSLLHTLVAFLCI	4659
RYR2	LPTRSSSENAK-VTSLDS-----SSHRIIA>V<HYVLEESSGYMEPTLRILAILHTVISFFCI	4587
RYR3	DVANLWN-------SFND-----EEEEEAM>V<FFVLQESTGYMAPTLRALAIIHTIISLVCV	4492
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4629M	c.13885G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697
p.V4629A	c.13886T>C	Putative Benign			SIFT: Polyphen: