No paralogue variants have been mapped to residue 1851 for ANK2.
ANK2 | HSPVSPSAKTERHSPASSSSKTEKHSPVSP>S<TKTERHSPVSSTKTERHPPVSPSGKTDKRP | 1881 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | SEKTPSAPQSAESTGPKPLFHEVPIPPVIT>E<TRTEVVHVIRSYDPSAGDVPQTQPEEPVSP | 2194 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1851L | c.5552C>T | Putative Benign | rs150737736 | SIFT: Polyphen: possibly damaging | |
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 |