No paralogue variants have been mapped to residue 3707 for ANK2.
ANK2 | ------------------VPKTEGDSSATA>L<FPQTHKEQVQQDFSGKMQDLPEESSLEYQQ | 3737 |
ANK1 | LVEDDTVDSDATNGLIDLLEQEEGQRSEEK>L<-PGS---KRQDDATGAGQDSENEVSLVSGH | 1676 |
ANK3 | ------------------VDGWQNETSSGN>L<ESCAQARRVTGGLLDRLDDSPDQCRDSI-T | 4238 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3707I | c.11119C>A | Conflict | rs35530544 | SIFT: tolerated Polyphen: benign | |
Reports | Other Cardiac Phenotype | A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004 101(24):9137-42. 15178757 | |||
Other Cardiac Phenotype | An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991 |