No paralogue variants have been mapped to residue 2017 for RYR1.
RYR1 | TAAETARRTREFRSPPQEQINMLLQFKDGT>D<EEDCPLPEEIRQDLLDFHQDLLAHCGIQLD | 2047 |
RYR2 | SAALTARKTKEFRSPPQEQINMLLNFKD-->D<KSECPCPEEIRDQLLDFHEDLMTHCGIELD | 2012 |
RYR3 | SAALTARKTKEFRSPPQEQINMLLNFQL-->G<E-NCPCPEEIREELYDFHEDLLLHCGVPLE | 1912 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2017N | c.6049G>A | Putative Benign | SIFT: Polyphen: |