No paralogue variants have been mapped to residue 3120 for RYR2.
RYR2 | VTQIINYTTVALLPMLSSLFEHIGQHQFGE>D<LILEDVQVSCYRILTSLYALGTSKSIYVER | 3150 |
RYR1 | VGQNLTYTTVALLPVLTTLFQHIAQHQFGD>D<VILDDVQVSCYRTLCSIYSLGTTKNTYVEK | 3185 |
RYR3 | VSQNINYTTVALLPILTSIFEHVTQHQFGM>D<LLLGDVQISCYHILCSLYSLGTGKNIYVER | 3046 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Asp3120His | c.9358G>C | Unknown | SIFT: Polyphen: |