No paralogue variants have been mapped to residue 3148 for RYR2.
RYR2 | GEDLILEDVQVSCYRILTSLYALGTSKSIY>V<ERQRSALGECLAAFAGAFPVAFLETHLDKH | 3178 |
RYR1 | GDDVILDDVQVSCYRTLCSIYSLGTTKNTY>V<EKLRPALGECLARLAAAMPVAFLEPQLNEY | 3213 |
RYR3 | GMDLLLGDVQISCYHILCSLYSLGTGKNIY>V<ERQRPALGECLASLAAAIPVAFLEPTLNRY | 3074 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3148L | c.9442G>C | Putative Benign | SIFT: tolerated Polyphen: possibly damaging | ||
p.Val3148Met | c.9442G>A | Unknown | SIFT: Polyphen: |