No paralogue variants have been mapped to residue 1142 for RYR2.
RYR2 | DMRVGWSRPGCQPDQELGSDERAFAFDGFK>A<QRWHQGNEHYGRSWQAGDVVGCMVDMNEHT | 1172 |
RYR1 | EMRVGWARPELRPDVELGADELAYVFNGHR>G<QRWHLGSEPFGRPWQPGDVVGCMIDLTENT | 1158 |
RYR3 | DMRVGWARPGCRPDVELGADDQAFVFEGNR>G<QRWHQGSGYFGRTWQPGDVVGCMINLDDAS | 1158 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala1142Val | c.3425C>T | Unknown | SIFT: Polyphen: |