No paralogue variants have been mapped to residue 2485 for RYR2.
RYR2 | DMSAGFCPDHKAAMVLFLDRVYGIEVQDFL>L<HLLEVGFLPDLRAAASLDTAALSATDMALA | 2515 |
RYR1 | KMSASFVPDHKASMVLFLDRVYGIENQDFL>L<HVLDVGFLPDMRAAASLDTATFSTTEMALA | 2549 |
RYR3 | DMAANFCPDHKAPMVLFLDRVYGIKDQTFL>L<HLLEVGFLPDLRASASLDTVSLSTTEAALA | 2412 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2485F | c.7453C>T | Putative Benign | SIFT: Polyphen: |