No paralogue variants have been mapped to residue 3848 for RYR1.
RYR1 | YLKDKKEVGFFQSIQALMQTCSVLDLNAFE>R<QNKAEGLGMVNEDGTVINRQNGEKVMADDE | 3878 |
RYR2 | YLKEKKDVGFFQSLAGLMQSCSVLDLNAFE>R<QNKAEGLGMVTEEGS------GEKVLQDDE | 3834 |
RYR3 | YLKEKKDAGFFQSLSGLMQSCSVLDLNAFE>R<QNKAEGLGMVTEEGTLIVRERGEKVLQNDE | 3730 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3848K | c.11543G>A | Putative Benign | SIFT: Polyphen: benign |