No paralogue variants have been mapped to residue 1340 for RYR2.
RYR2 | EVFSKTV-AGGLPGAGLFGPK-NDLEDYDA>D<SDFEVLMKTAHGHLVPDRVDKDKEATKPEF | 1370 |
RYR1 | QHFRCTAGATPLAPPGLQPPAEDEARAAEP>D<PDYENLRRSAGGWSEAENGKEGTAKEGAPG | 1358 |
RYR3 | SSFSH------------------------->-<------------------------------ | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1340H | c.4018G>C | Putative Benign | SIFT: deleterious Polyphen: benign |