No paralogue variants have been mapped to residue 3848 for ANK2.
ANK2 | --NQPE-TCERLDEDAAFEKGDDMPEIPPE>T<VTEEEYIDEHGHTVVKKVTRKIIRRYVSSE | 3878 |
ANK1 | QQGQEEQVQEAKNTFTQVVQGNEFQNIPGE>Q<VTEEQFTDEQGNIVTKKIIRKVVRQIDLSS | 1839 |
ANK3 | --CVPV-SMKKMSRTSPADGKPRLSLHEEE>G<SS---------------------------- | 4350 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T3848A | c.11542A>G | Putative Benign | rs373688313 | SIFT: tolerated Polyphen: benign | |
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 |