Paralogue Annotation for RYR2 residue 1365

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1365
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1365

No paralogue variants have been mapped to residue 1365 for RYR2.

RYR2	EDYDADSDFEVLMKTAHGHLVPDRVDKDKE>A<TKPEFNNHK--------------DYAQEKP	1381
RYR1	RAAEPDPDYENLRRSAGGWSEAENGKEGTA>K<EGAPGGTPQAGGEAQPARAENEKDATTEKN	1383
RYR3	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1365V	c.4094C>T	Putative Benign		rs373261115	SIFT: tolerated Polyphen: benign