Paralogue Annotation for RYR2 residue 4276

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4276
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4276

No paralogue variants have been mapped to residue 4276 for RYR2.

RYR2	FALRYNILTLMRMLSLKSLKKQMKKVKKMT>V<KDMVTAFFSSYWSIFMTLLHFVASVFRGFF	4306
RYR1	ARVVAAAGRALRGLSYRSLRRRVRRLRRLT>A<REAATAVAALLWAAVTRAGAAGAGAAAGAL	4355
RYR3	ASVKRNVTDFLKRATLKNLRKQYRNVKKMT>A<KELVKVLFSFFWMLFVGLFQLLFTILGGIF	4207
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4276M	c.12826G>A	Putative Benign		rs368599791	SIFT: tolerated Polyphen: benign