No paralogue variants have been mapped to residue 2395 for RYR2.
RYR2 | S-GSSKTLDTEEEEDDTIHMGNAIMTFYSA>L<IDLLGRCAPEMHLIHAGKGEAIRIRSILRS | 2425 |
RYR1 | RDRRREHFGEEPPEENRVHLGHAIMSFYAA>L<IDLLGRCAPEMHLIQAGKGEALRIRAILRS | 2459 |
RYR3 | Y-KREVSTGDDEEEEEIVHMGNAIMSFYSA>L<IDLLGRCAPEMHLIQTGKGEAIRIRSILRS | 2322 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2395M | c.7183T>A | Putative Benign | rs374678615 | SIFT: deleterious Polyphen: probably damaging |