No paralogue variants have been mapped to residue 1317 for RYR2.
RYR2 | QKSFGSQNSNTDIMFYRLSMPIECAEVFSK>T<V-AGGLPGAGLFGPK-NDLEDYDADSDFEV | 1345 |
RYR1 | HRTWGSQNSLVEMLFLRLSLPVQFHQHFRC>T<AGATPLAPPGLQPPAEDEARAAEPDPDYEN | 1333 |
RYR3 | HKTFGTQNSNADMIYCRLSMPVECHSSFSH>-<------------------------------ | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1317M | c.3950C>T | Putative Benign | SIFT: Polyphen: |