No paralogue variants have been mapped to residue 3258 for ANK2.
ANK2 | LTRSVYSDRGDDSPDSSPEEQKSVIEIPTA>P<MENVPFTESKSKIPVRTMPTSTPAPPSAEY | 3288 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | FQKDNFNNN--NNLDSSTIQTDNI------>-<MSNIVLTEH--SAPTCTTEKDNPVKVSSGK | 3830 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P3258R | c.9773C>G | Unknown | 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 |