No paralogue variants have been mapped to residue 2480 for RYR2.
RYR2 | NVVEPDMSAGFCPDHKAAMVLFLDRVYGIE>V<QDFLLHLLEVGFLPDLRAAASLDTAALSAT | 2510 |
RYR1 | ALVQPKMSASFVPDHKASMVLFLDRVYGIE>N<QDFLLHVLDVGFLPDMRAAASLDTATFSTT | 2544 |
RYR3 | SVSEPDMAANFCPDHKAPMVLFLDRVYGIK>D<QTFLLHLLEVGFLPDLRASASLDTVSLSTT | 2407 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2480F | c.7438G>T | Putative Benign | SIFT: Polyphen: |