No paralogue variants have been mapped to residue 2596 for RYR1.
RYR1 | APLFAGTEHRAIMVDSMLHTVYRLSRGRSL>T<KAQRDVIEDCLMSLCRYIRPSMLQHLLRRL | 2626 |
RYR2 | APLFAGTEHHASLIDSLLHTVYRLSKGCSL>T<KAQRDSIEVCLLSICGQLRPSMMQHLLRRL | 2592 |
RYR3 | APLFAGTEHCTSLIDSTLQTIYRLSKGRSL>T<KAQRDTIEECLLAICNHLRPSMLQQLLRRL | 2489 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2596I | c.7787C>T | Other Myopathy | rs193922824 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
p.T2596S | c.7787C>G | Putative Benign | SIFT: Polyphen: |