No paralogue variants have been mapped to residue 4100 for RYR2.
RYR2 | AETDENETLDYEEFVKRFHEPAKDIGFNVA>V<LLTNLSEHMPNDTRLQTFLELAESVLNYFQ | 4130 |
RYR1 | SEADENEMINCEEFANRFQEPARDIGFNVA>V<LLTNLSEHVPHDPRLHNFLELAESILEYFR | 4174 |
RYR3 | AEADENDMFNYVDFVDRFHEPAKDIGFNVA>V<LLTNLSEHMPNDSRLKCLLDPAESVLNYFE | 4026 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4100I | c.12298G>A | Putative Benign | SIFT: Polyphen: |