Paralogue Annotation for RYR2 residue 1340

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1340
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1340

No paralogue variants have been mapped to residue 1340 for RYR2.

RYR2	EVFSKTV-AGGLPGAGLFGPK-NDLEDYDA>D<SDFEVLMKTAHGHLVPDRVDKDKEATKPEF	1370
RYR1	QHFRCTAGATPLAPPGLQPPAEDEARAAEP>D<PDYENLRRSAGGWSEAENGKEGTAKEGAPG	1358
RYR3	SSFSH------------------------->-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1340H	c.4018G>C	Putative Benign			SIFT: deleterious Polyphen: benign