Paralogue Annotation for RYR1 residue 1541

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1541
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1541

No paralogue variants have been mapped to residue 1541 for RYR1.

RYR1	TDLVIGCLVDLATGLMTFTANGKESNTFFQ>V<EPNTKLFPAVFVLPTHQNVIQFELGKQKNI	1571
RYR2	NGLEIGCVVDAASGLLTFIANGKELSTYYQ>V<EPSTKLFPAVFAQATSPNVFQFELGRIKNV	1563
RYR3	VDLEIGCLVDLAMGMLSFSANGKELGTCYQ>V<EPNTKVFPAVFLQPTSTSLFQFELGKLKNA	1467
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1541M	c.4621G>A	Putative Benign			SIFT: Polyphen:
p.V1541L	c.4621G>C	Putative Benign			SIFT: Polyphen: