Paralogue Annotation for RYR2 residue 4279

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4279
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4279

No paralogue variants have been mapped to residue 4279 for RYR2.

RYR2	RYNILTLMRMLSLKSLKKQMKKVKKMTVKD>M<VTAFFSSYWSIFMTLLHFVASVFRGFFRII	4309
RYR1	VAAAGRALRGLSYRSLRRRVRRLRRLTARE>A<ATAVAALLWAAVTRAGAAGAGAAAGALGLL	4358
RYR3	KRNVTDFLKRATLKNLRKQYRNVKKMTAKE>L<VKVLFSFFWMLFVGLFQLLFTILGGIFQIL	4210
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4279V	c.12835A>G	Putative Benign			SIFT: Polyphen:
p.M4279I	c.12837G>A	Putative Benign			SIFT: Polyphen: