Paralogue Annotation for RYR2 residue 4249

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4249
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4249

No paralogue variants have been mapped to residue 4249 for RYR2.

RYR2	-----ERPEEQGPRMAFFSILTVRSALFAL>R<YNILTLMRMLSLKSLKKQMKKVKKMTVKDM	4279
RYR1	AEAGAEGAEEGAAGLEGTAATAAAGATARV>V<AAAGRALRGLSYRSLRRRVRRLRRLTAREA	4328
RYR3	SSYVLEIAGEEEEDGSLEPASAFAMACASV>K<RNVTDFLKRATLKNLRKQYRNVKKMTAKEL	4180
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4249T	c.12746G>C	Putative Benign			SIFT: Polyphen: