Paralogue Annotation for RYR2 residue 4271

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4271
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4271

No paralogue variants have been mapped to residue 4271 for RYR2.

RYR2	VRSALFALRYNILTLMRMLSLKSLKKQMKK>V<KKMTVKDMVTAFFSSYWSIFMTLLHFVASV	4301
RYR1	AAGATARVVAAAGRALRGLSYRSLRRRVRR>L<RRLTAREAATAVAALLWAAVTRAGAAGAGA	4350
RYR3	FAMACASVKRNVTDFLKRATLKNLRKQYRN>V<KKMTAKELVKVLFSFFWMLFVGLFQLLFTI	4202
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4271I	c.12811G>A	Putative Benign			SIFT: Polyphen: