No paralogue variants have been mapped to residue 4434 for RYR2.
RYR2 | PMPE-V-QEKFQEQ--KA---KEEEKEEKE>E<TKSEPEKAEGEDGEKEEKAKEDKGKQKLR- | 4463 |
RYR1 | TPEGSP-ILKRKLGVDGVEEELPPEPEPEP>E<PELEPEKADAENGEKEEVPEPTPEPPKKQ- | 4525 |
RYR3 | PTLESTVQKKRKA---QA---AEMKAANEA>E<GKVESEKADMEDGEKEDKDKEEEQAEYLWT | 4367 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4434A | c.13301A>C | Putative Benign | SIFT: Polyphen: |