No paralogue variants have been mapped to residue 1292 for RYR1.
RYR1 | TVDTPPCLRLTHRTWGSQNSLVEMLFLRLS>L<PVQFHQHFRCTAGATPLAPPGLQPPAEDEA | 1322 |
RYR2 | TIDSSPCLKVTQKSFGSQNSNTDIMFYRLS>M<PIECAEVFSKTV-AGGLPGAGLFGPK-NDL | 1334 |
RYR3 | TMDSPPCLKVTHKTFGTQNSNADMIYCRLS>M<PVECHSSFSH-------------------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1292F | c.3874C>T | Putative Benign | rs369954163 | SIFT: deleterious Polyphen: possibly damaging |