No paralogue variants have been mapped to residue 1011 for ANK2.
ANK2 | MRGCRHNGLRIIIPPRKCTAPTRVTCRLVK>R<HRLATMPPMVEGEGLASRLIEVGPSGAQFL | 1041 |
ANK1 | MRGSRHNGLRVVIPPRTCAAPTRITCRLVK>P<QKLSTPPPLAEEEGLASRIIALGPTGAQFL | 986 |
ANK3 | MRGSRHHGMRIIIPPRKCTAPTRITCRLVK>R<HKLANPPPMVEGEGLASRLVEMGPAGAQFL | 1057 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1011H | c.3032G>A | 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 |