This data was extracted from Medline abstracts and full texts (when available) in an automated manner.
The table below describes the selected point mutation and provides links to other documents. The sentence(s) where the point mutation A490T was found are listed after the table.
The mutated residues are also indicated in the family sequence alignments and hyperlinked to the corresponding mutation pages.
|General numbering (KChannelDB):||-|
|Protein:||KCNH2_HUMAN (KCNH2,ERG, ERG1, HERG, HERG)||Swiss-Prot|
|Other point mutations / same protein||List of mutations in KCNH2_HUMAN|
eag related KCNH (Kv10-12)|
K+ voltage-gated channels (Kv1-12,Kca2-5)
Potassium channels 6 TMs
|Other point mutations / same position|
|Reference:||Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.|
Yoshida H, Horie M, Otani H, Kawashima T, Onishi Y, Sasayama S
Am J Med Genet 2001 Feb 1;98(4):348-52.
|Other point mutations / same article||List|
|Validation status||True positive|