Paralogue Annotation for RYR2 residue 1319

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1319
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1319

No paralogue variants have been mapped to residue 1319 for RYR2.

RYR2	FGSQNSNTDIMFYRLSMPIECAEVFSKTV->A<GGLPGAGLFGPK-NDLEDYDADSDFEVLMK	1348
RYR1	WGSQNSLVEMLFLRLSLPVQFHQHFRCTAG>A<TPLAPPGLQPPAEDEARAAEPDPDYENLRR	1336
RYR3	FGTQNSNADMIYCRLSMPVECHSSFSH--->-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1319T	c.3955G>A	Putative Benign		rs376526841	SIFT: tolerated Polyphen: benign