No paralogue variants have been mapped to residue 3076 for RYR2.
RYR2 | MKTGLESVKSALRAFLDNAAEDLEKTMENL>K<QGQFTHTRNQPKGVTQIINYTTVALLPMLS | 3106 |
RYR1 | MKSGPEIVKAGLRSFFESASEDIEKMVENL>R<LGKVSQARTQVKGVGQNLTYTTVALLPVLT | 3141 |
RYR3 | MKSGSELVKAGLRAFFENAAEDLEKTSENL>K<LGKFTHSRTQIKGVSQNINYTTVALLPILT | 3002 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K3076Q | c.9226A>C | Putative Benign | SIFT: Polyphen: |