No paralogue variants have been mapped to residue 1301 for RYR1.
RYR1 | LTHRTWGSQNSLVEMLFLRLSLPVQFHQHF>R<CTAGATPLAPPGLQPPAEDEARAAEPDPDY | 1331 |
RYR2 | VTQKSFGSQNSNTDIMFYRLSMPIECAEVF>S<KTV-AGGLPGAGLFGPK-NDLEDYDADSDF | 1343 |
RYR3 | VTHKTFGTQNSNADMIYCRLSMPVECHSSF>S<H----------------------------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1301H | c.3902G>A | Putative Benign | SIFT: deleterious Polyphen: benign | ||
p.R1301C | c.3901C>T | Putative Benign | SIFT: Polyphen: |