Paralogue Annotation for RYR2 residue 3246

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3246
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3246

No paralogue variants have been mapped to residue 3246 for RYR2.

RYR2	EEIVELAESGIRYTQMPHVMEVILPMLCSY>M<SRWWEHGPENNPE----RAEMCCTALNSEH	3272
RYR1	ADIGGLAESGARYTEMPHVIEITLPMLCSY>L<PRWWERGPEAPPSALPAGAPPPCTAVTSDH	3311
RYR3	KEINDLAESGARYTEMPHVIEVILPMLCNY>L<SYWWERGPENLPP----STGPCCTKVTSEH	3168
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M3246V	c.9736A>G	Putative Benign			SIFT: Polyphen:
p.M3246I	c.9738G>A	Putative Benign			SIFT: Polyphen: