No paralogue variants have been mapped to residue 2714 for ANK2.
ANK2 | TFKMNE--DTQEEPGKSEEEKDSESHLAED>R<HAVSTEAEDRSYDKLNRDTDQPKICDGHGC | 2744 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | TFKLKEVDDEQKEKPKASAEKASNQKELES>N<-GSGKDNE-------------------FGL | 3373 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2714H | c.8141G>A | Putative Benign | rs142137451 | SIFT: 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.R2714C | c.8140C>T | Putative Benign | rs376628082 | SIFT: tolerated Polyphen: benign |