No paralogue variants have been mapped to residue 3499 for RYR1.
RYR1 | FLTADNKSKMAKAGDIQSGGSDQERTKKKR>R<GDRYSVQTSLIVATLKKMLPIGLNMCAPTD | 3529 |
RYR2 | FLITDTKSKMSKAA-----VSDQERKKMKR>K<GDRYSMQTSLIVAALKRLLPIGLNICAPGD | 3485 |
RYR3 | FLTGDSKSKMSKAMQVKSGGQDQERKKTKR>R<GDLYSIQTSLIVAALKKMLPIGLNMCTPGD | 3386 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3499W | c.10495C>T | Putative Benign | rs147058802 | SIFT: Polyphen: possibly damaging | |
p.R3499P | c.10496G>C | Putative Benign | rs138324438 | SIFT: Polyphen: benign | |
p.R3499G | c.10495C>G | Putative Benign | SIFT: Polyphen: |