No paralogue variants have been mapped to residue 2039 for RYR2.
RYR2 | ELDEDG-SLDGNSDLTIRGRLLSLVEKVTY>L<KKKQA--EKPVESDSKKSSTLQQLISETMV | 2067 |
RYR1 | QLDGEEEEP--EEETTLGSRLMSLLEKVRL>V<KKKEEKPEEERSAEESKPRSLQELVSHMVV | 2103 |
RYR3 | PLEEEE-EE--EEDTSWTGKLCALVYKIKG>P<PKPEK--EQPTEEEERCPTTLKELISQTMI | 1965 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2039M | c.6115C>A | Putative Benign | SIFT: Polyphen: |