Paralogue Annotation for RYR2 residue 1347

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1347
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1347

No paralogue variants have been mapped to residue 1347 for RYR2.

RYR2	-AGGLPGAGLFGPK-NDLEDYDADSDFEVL>M<KTAHGHLVPDRVDKDKEATKPEFNNHK---	1374
RYR1	GATPLAPPGLQPPAEDEARAAEPDPDYENL>R<RSAGGWSEAENGKEGTAKEGAPGGTPQAGG	1365
RYR3	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1347R	c.4040T>G	Putative Benign		rs193922625	SIFT: tolerated Polyphen: benign