Paralogue Annotation for RYR2 residue 1509

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1509
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1509

No paralogue variants have been mapped to residue 1509 for RYR2.

RYR2	KRSNCYMVCAGESMSPGQ-G-RNNNGLEIG>C<VVDAASGLLTFIANGKELSTYYQVEPSTKL	1539
RYR1	KCSNCYMVWGGDFVSPGQQGRISHTDLVIG>C<LVDLATGLMTFTANGKESNTFFQVEPNTKL	1547
RYR3	KRSNCYMVWGGDIVASSQRSNRSNVDLEIG>C<LVDLAMGMLSFSANGKELGTCYQVEPNTKV	1443
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C1509W	c.4527T>G	Putative Benign		rs138270661	SIFT: deleterious Polyphen: probably damaging