Paralogue Annotation for RYR2 residue 1359

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1359
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1359

No paralogue variants have been mapped to residue 1359 for RYR2.

RYR2	PK-NDLEDYDADSDFEVLMKTAHGHLVPDR>V<DKDKEATKPEFNNHK--------------D	1375
RYR1	PAEDEARAAEPDPDYENLRRSAGGWSEAEN>G<KEGTAKEGAPGGTPQAGGEAQPARAENEKD	1377
RYR3	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1359A	c.4076T>C	Putative Benign			SIFT: tolerated Polyphen: benign