Paralogue Annotation for RYR2 residue 1311

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1311
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1311

No paralogue variants have been mapped to residue 1311 for RYR2.

RYR2	PCLKVTQKSFGSQNSNTDIMFYRLSMPIEC>A<EVFSKTV-AGGLPGAGLFGPK-NDLEDYDA	1339
RYR1	PCLRLTHRTWGSQNSLVEMLFLRLSLPVQF>H<QHFRCTAGATPLAPPGLQPPAEDEARAAEP	1327
RYR3	PCLKVTHKTFGTQNSNADMIYCRLSMPVEC>H<SSFSH-------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1311T	c.3931G>A	Putative Benign		rs368635274	SIFT: tolerated Polyphen: benign
p.A1311V	c.3932C>T	Putative Benign			SIFT: Polyphen: