No paralogue variants have been mapped to residue 2510 for RYR1.
RYR1 | GKDGALVQPKMSASFVPDHKASMVLFLDRV>Y<GIENQDFLLHVLDVGFLPDMRAAASLDTAT | 2540 |
RYR2 | AKDGNVVEPDMSAGFCPDHKAAMVLFLDRV>Y<GIEVQDFLLHLLEVGFLPDLRAAASLDTAA | 2506 |
RYR3 | NKDGSVSEPDMAANFCPDHKAPMVLFLDRV>Y<GIKDQTFLLHLLEVGFLPDLRASASLDTVS | 2403 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y2510H | c.7528T>C | Other Myopathy | rs193922819 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
p.Y2510C | c.7529A>G | Putative Benign | SIFT: Polyphen: |