Paralogue Annotation for RYR2 residue 1350

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1350
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1350

No paralogue variants have been mapped to residue 1350 for RYR2.

RYR2	GLPGAGLFGPK-NDLEDYDADSDFEVLMKT>A<HGHLVPDRVDKDKEATKPEFNNHK------	1374
RYR1	PLAPPGLQPPAEDEARAAEPDPDYENLRRS>A<GGWSEAENGKEGTAKEGAPGGTPQAGGEAQ	1368
RYR3	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1350V	c.4049C>T	Putative Benign			SIFT: Polyphen: