No paralogue variants have been mapped to residue 3809 for ANK2.
ANK2 | IIQEPEEP-------------SEHREESSP>R<KTSLVIVESAD--NQPE-TCERLDEDAAFE | 3836 |
ANK1 | TMTEGLEPGGSQEYEKVLVSVSEHTWTEQP>E<AESSQADRDRRQQGQEEQVQEAKNTFTQVV | 1797 |
ANK3 | HVEEPASP-------------LAAYQKSLE>E<TSKLIIEETKP--CVPV-SMKKMSRTSPAD | 4336 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3809W | c.11425C>T | Putative Benign | rs139797180 | SIFT: Polyphen: probably 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 | |||
p.R3809Q | c.11426G>A | Putative Benign | SIFT: Polyphen: |