Paralogue Annotation for RYR2 residue 1441

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1441
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1441

No paralogue variants have been mapped to residue 1441 for RYR2.

RYR2	DDRDDYDFLMQT-STYYYSVRIFPGQEPAN>V<WVGWITSDFHQYDTGFDLDRVRTVTVTLGD	1471
RYR1	ADNRDDPEIILNTTTYYYSVRVFAGQEPSC>V<WAGWVTPDYHQHDMSFDLSKVRVVTVTMGD	1477
RYR3	KRKQMQEILSHTTTQCYYAIRIFAGQDPSC>V<WVGWVTPDYHLYSEKFDLNKNCTVTVTLGD	1373
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1441I	c.4321G>A	Putative Benign		rs376638283	SIFT: tolerated Polyphen: possibly damaging