No paralogue variants have been mapped to residue 3807 for RYR2.
RYR2 | MLDYLKEKKDVGFFQSLAGLMQSCSVLDLN>A<FERQNKAEGLGMVTEEGS------GEKVLQ | 3831 |
RYR1 | MLDYLKDKKEVGFFQSIQALMQTCSVLDLN>A<FERQNKAEGLGMVNEDGTVINRQNGEKVMA | 3875 |
RYR3 | MLDYLKEKKDAGFFQSLSGLMQSCSVLDLN>A<FERQNKAEGLGMVTEEGTLIVRERGEKVLQ | 3727 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A3807V | c.11420C>T | Putative Benign | SIFT: Polyphen: |