No paralogue variants have been mapped to residue 6 for KCNE1.
KCNE1 | --MILS---N>T<TAVTPFLTKLWQE---T------VQQGGN- | 26 |
KCNE2 | MSTLSN---F>T<QTLEDVFRRIFITYMDNW----RQNTTAEQ | 34 |
KCNE3 | METTNGTETW>Y<ESLHAVLKALNATLHSNLLCRPGPGLGPD- | 40 |
KCNE4 | ---------->-<--------MLKMEPLNST----HPGTAASS | 18 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T6N | c.17C>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 |