No paralogue variants have been mapped to residue 2362 for ANK2.
ANK2 | ALPLPEASVKTD---------------T-G>T<ESKPQGVIRSPQGL----------ELALPS | 2382 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | VLYR-EYVVKEGDHPGGLLDQPSRRSESSA>V<SHIPVRVADERRMLSSNIPDGFCEQSAFPK | 2987 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2362P | c.7084A>C | Putative Benign | rs201693280 | SIFT: deleterious 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.T2362N | c.7085C>A | Putative Benign | SIFT: Polyphen: |