No paralogue variants have been mapped to residue 4514 for RYR1.
RYR1 | EEELPPEPEPEPEPELEPEKADAENGEKEE>V<PEPTPEPPKKQ---------APPSPPPKKE | 4535 |
RYR2 | ---KEEEKEEKEETKSEPEKAEGEDGEKEE>K<AKEDKGKQKLR--------QLHTHRYGEPE | 4474 |
RYR3 | ---AEMKAANEAEGKVESEKADMEDGEKED>K<DKEEEQAEYLWTEVTKKKKRRCGQKVEKPE | 4385 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4514F | c.13540G>T | Putative Benign | rs139285170 | SIFT: Polyphen: |