No paralogue variants have been mapped to residue 1072 for RYR1.
RYR1 | TLLGYGYNIEPPDQEP-SQVEN-QSRCDRV>R<IFRAEKSYTVQSGRWYFEFEAVTTGEMRVG | 1102 |
RYR2 | TLLGYGYNLEAPDQDHAARAEVCSGTGERF>R<IFRAEKTYAVKAGRWYFEFETVTAGDMRVG | 1116 |
RYR3 | TFVGYGYNIEPSDQEL-ADSAVEKVSIDKI>R<FFRVERSYAVRSGKWYFEFEVVTGGDMRVG | 1102 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1072H | c.3215G>A | Putative Benign | SIFT: Polyphen: |