No paralogue variants have been mapped to residue 4125 for RYR2.
RYR2 | GFNVAVLLTNLSEHMPNDTRLQTFLELAES>V<LNYFQPFLGRIEIMGSAKRIERVYFEISES | 4155 |
RYR1 | GFNVAVLLTNLSEHVPHDPRLHNFLELAES>I<LEYFRPYLGRIEIMGASRRIERIYFEISET | 4199 |
RYR3 | GFNVAVLLTNLSEHMPNDSRLKCLLDPAES>V<LNYFEPYLGRIEIMGGAKKIERVYFEISES | 4051 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4125I | c.12373G>A | Putative Benign | SIFT: Polyphen: | ||
p.Val4125Phe | c.12373G>T | Unknown | SIFT: Polyphen: |