Paralogue Annotation for RYR2 residue 1318

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1318
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1318

No paralogue variants have been mapped to residue 1318 for RYR2.

RYR2	KSFGSQNSNTDIMFYRLSMPIECAEVFSKT>V<-AGGLPGAGLFGPK-NDLEDYDADSDFEVL	1346
RYR1	RTWGSQNSLVEMLFLRLSLPVQFHQHFRCT>A<GATPLAPPGLQPPAEDEARAAEPDPDYENL	1334
RYR3	KTFGTQNSNADMIYCRLSMPVECHSSFSH->-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1318E	c.3953T>A	Putative Benign			SIFT: tolerated Polyphen: benign