No paralogue variants have been mapped to residue 1152 for ANK2.
ANK2 | SRIKQDSNLIGPEGGVLSSTVVPQVQAVFP>E<GALTKRIRVGLQAQPMHSELVKKILGNKAT | 1182 |
ANK1 | SRLCQDYDTIGPEGGSLKSKLVPLVQATFP>E<NAVTKRVKLALQAQPVPDELVTKLLGNQAT | 1127 |
ANK3 | SRIKQESNQIGPEGGILSSTTVPLVQASFP>E<GALTKRIRVGLQAQPVPDEIVKKILGNKAT | 1198 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1152D | c.3456G>C | Putative Benign | rs368553743 | SIFT: deleterious Polyphen: probably damaging |