No paralogue variants have been mapped to residue 4130 for RYR1.
RYR1 | KQFSGPEIQFLLSCSEADENEMINCEEFAN>R<FQEPARDIGFNVAVLLTNLSEHVPHDPRLH | 4160 |
RYR2 | KHYTQSETEFLLSCAETDENETLDYEEFVK>R<FHEPAKDIGFNVAVLLTNLSEHMPNDTRLQ | 4116 |
RYR3 | KQYTQSEIDFLLSCAEADENDMFNYVDFVD>R<FHEPAKDIGFNVAVLLTNLSEHMPNDSRLK | 4012 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4130C | c.12388C>T | Putative Benign | SIFT: Polyphen: | ||
p.R4130H | c.12389G>A | Putative Benign | SIFT: Polyphen: | ||
p.R4130P | c.12389G>C | Putative Benign | SIFT: Polyphen: |