Paralogue Annotation for RYR2 residue 1232

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1232
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1232

No paralogue variants have been mapped to residue 1232 for RYR2.

RYR2	IPVCSLGVAQVGRMNFGKDVSTLKYFTICG>L<QEGYEPFAVNTNRDITMWLSKRLPQFLQVP	1262
RYR1	LPVCSLGPGQVGHLNLGQDVSSLRFFAICG>L<QEGFEPFAINMQRPVTTWFSKGLPQFEPVP	1248
RYR3	VPICCLGLSQIGRMNLGTDASTFKFYTMCG>L<QEGFEPFAVNMNRDVAMWFSKRLPTFVNVP	1248
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1232F	c.3696A>T	Putative Benign			SIFT: deleterious Polyphen: possibly damaging