No paralogue variants have been mapped to residue 750 for ANK2.
ANK2 | DQDAHTKLGYTPLIVACHYGNVKMVNFLLK>Q<GANVNAKTKNGYTPLHQAAQQGHTHIINVL | 780 |
ANK1 | MVDATTRMGYTPLHVASHYGNIKLVKFLLQ>H<QADVNAKTKLGYSPLHQAAQQGHTDIVTLL | 753 |
ANK3 | HVDAQTKMGYTPLHVGCHYGNIKIVNFLLQ>H<SAKVNAKTKNGYTPLHQAAQQGHTHIINVL | 782 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q750R | c.2249A>G | Putative Benign | rs371787039 | SIFT: deleterious Polyphen: possibly damaging |