No paralogue variants have been mapped to residue 720 for ANK2.
ANK2 | MSTKSGLTSLHLAAQEDKVNVADILTKHGA>D<QDAHTKLGYTPLIVACHYGNVKMVNFLLKQ | 750 |
ANK1 | LGNKSGLTPLHLVAQEGHVPVADVLIKHGV>M<VDATTRMGYTPLHVASHYGNIKLVKFLLQH | 723 |
ANK3 | LSNKSGLTPLHLAAQEDRVNVAEVLVNQGA>H<VDAQTKMGYTPLHVGCHYGNIKIVNFLLQH | 752 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D720E | c.2160T>A | Putative Benign | 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 |