No paralogue variants have been mapped to residue 2074 for RYR1.
RYR1 | LDGEEEEP--EEETTLGSRLMSLLEKVRLV>K<KKEEKPEEERSAEESKPRSLQELVSHMVVR | 2104 |
RYR2 | LDEDG-SLDGNSDLTIRGRLLSLVEKVTYL>K<KKQA--EKPVESDSKKSSTLQQLISETMVR | 2068 |
RYR3 | LEEEE-EE--EEDTSWTGKLCALVYKIKGP>P<KPEK--EQPTEEEERCPTTLKELISQTMIC | 1966 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2074N | c.6222G>T | Putative Benign | SIFT: Polyphen: |