No paralogue variants have been mapped to residue 1104 for RYR1.
RYR1 | FRAEKSYTVQSGRWYFEFEAVTTGEMRVGW>A<RPELRPDVELGADELAYVFNGHRGQRWHLG | 1134 |
RYR2 | FRAEKTYAVKAGRWYFEFETVTAGDMRVGW>S<RPGCQPDQELGSDERAFAFDGFKAQRWHQG | 1148 |
RYR3 | FRVERSYAVRSGKWYFEFEVVTGGDMRVGW>A<RPGCRPDVELGADDQAFVFEGNRGQRWHQG | 1134 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1104V | c.3311C>T | Putative Benign | rs149096607 | SIFT: Polyphen: possibly damaging | |
p.A1104G | c.3311C>G | Putative Benign | SIFT: Polyphen: |