No paralogue variants have been mapped to residue 3044 for RYR2.
RYR2 | LVRHRISLFGNDATSIVNCLHILGQTLDAR>T<VMKTGLESVKSALRAFLDNAAEDLEKTMEN | 3074 |
RYR1 | LVRHRVSLFGTDAPAVVNCLHILARSLDAR>T<VMKSGPEIVKAGLRSFFESASEDIEKMVEN | 3109 |
RYR3 | LVRHRISLFGSDSTTMVSCLHILAQTLDTR>T<VMKSGSELVKAGLRAFFENAAEDLEKTSEN | 2970 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T3044S | c.9130A>T | Putative Benign | SIFT: Polyphen: | ||
p.Thr3044Ile | c.9131C>T | Unknown | SIFT: Polyphen: |