Paralogue Annotation for RYR2 residue 1541

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1541
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1541

No paralogue variants have been mapped to residue 1541 for RYR2.

RYR2	VDAASGLLTFIANGKELSTYYQVEPSTKLF>P<AVFAQATSPNVFQFELGRIKNVMPLSAGLF	1571
RYR1	VDLATGLMTFTANGKESNTFFQVEPNTKLF>P<AVFVLPTHQNVIQFELGKQKNIMPLSAAMF	1579
RYR3	VDLAMGMLSFSANGKELGTCYQVEPNTKVF>P<AVFLQPTSTSLFQFELGKLKNAMPLSAAIF	1475
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1541S	c.4621C>T	Putative Benign			SIFT: Polyphen: