No paralogue variants have been mapped to residue 2390 for ANK2.
ANK2 | PQGL----------ELALPSRD---SEVLS>A<VADDSL-------------AVS-------H | 2400 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | RRMLSSNIPDGFCEQSAFPKHELSQKLSQS>S<MSKETVETQHFNSIEDEKVTYSEISKVSKH | 3028 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2390T | c.7168G>A | Benign | rs3733616 | 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 | |||
p.A2390S | c.7168G>T | Putative Benign | SIFT: Polyphen: |