No paralogue variants have been mapped to residue 3796 for ANK2.
ANK2 | EEVSTPAEEEKLYLQTPTSSERGGSPIIQE>P<EEP-------------SEHREESSPRKTSL | 3813 |
ANK1 | EEV---------T-QGPHSF--QGTSTMTE>G<LEPGGSQEYEKVLVSVSEHTWTEQPEAESS | 1771 |
ANK3 | ESQNDVGKQS--T-KETLKPKIHGSGHVEE>P<ASP-------------LAAYQKSLEETSKL | 4313 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P3796L | c.11387C>T | Unknown | SIFT: Polyphen: | ||
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 |