No paralogue variants have been mapped to residue 4220 for RYR2.
RYR2 | VNFCEDTIFEMQLAAQISESDLNERSANKE>E<SEK-----ERPEEQGPRMAFFSILTVRSAL | 4245 |
RYR1 | VSFCEDTIFEMQIAAQISEPEGEPETDEDE>G<AGAAEAGAEGAEEGAAGLEGTAATAAAGAT | 4294 |
RYR3 | VNFCEDTIFEMQLASQISESDSADRPEEEE>E<DEDSSYVLEIAGEEEEDGSLEPASAFAMAC | 4146 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4220K | c.12658G>A | Putative Benign | SIFT: Polyphen: |