KChannelDB: Extraction of mutation data from the literature

2005, KChannelDB.

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.

Point mutation A490T in KCNH2_HUMAN

Point mutation:	A490T
Domain:	Loop 2-3
General numbering (KChannelDB):	-
Protein:	KCNH2_HUMAN (KCNH2,ERG, ERG1, HERG, HERG)	Swiss-Prot Cross-reference table Family page
Protein isoforms	4
Other point mutations / same protein	List of mutations in KCNH2_HUMAN
Family alignments	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.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	True positive

Relevant sentences:

A490T

We report a case of a novel HERG mutation (A490T) that caused a bradycardia-associated form of long QT syndrome
Electrophysiological assays for the A490T mutant HERG channel were conducted in the heterologous expression system with COS7 cells

F.Horn (kchanneldbcmbi.ru.nl), 17-Aug-2005