No paralogue variants have been mapped to residue 1082 for RYR1.
RYR1 | PPDQEP-SQVEN-QSRCDRVRIFRAEKSYT>V<QSGRWYFEFEAVTTGEMRVGWARPELRPDV | 1112 |
RYR2 | APDQDHAARAEVCSGTGERFRIFRAEKTYA>V<KAGRWYFEFETVTAGDMRVGWSRPGCQPDQ | 1126 |
RYR3 | PSDQEL-ADSAVEKVSIDKIRFFRVERSYA>V<RSGKWYFEFEVVTGGDMRVGWARPGCRPDV | 1112 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1082A | c.3245T>C | Putative Benign | SIFT: Polyphen: |