No paralogue variants have been mapped to residue 1167 for RYR1.
RYR1 | PFGRPWQPGDVVGCMIDLTENTIIFTLNGE>V<LMSDSGSETAFREIEIGDGFLPVCSLGPGQ | 1197 |
RYR2 | HYGRSWQAGDVVGCMVDMNEHTMMFTLNGE>I<LLDDSGSELAFKDFDVGDGFIPVCSLGVAQ | 1211 |
RYR3 | YFGRTWQPGDVVGCMINLDDASMIFTLNGE>L<LITNKGSELAFADYEIENGFVPICCLGLSQ | 1197 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1167F | c.3499G>T | Putative Benign | SIFT: Polyphen: |