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 L529A 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 L529A in KCNH2_HUMAN

Point mutation:	L529A
Domain:	TRANSMEM IV
General numbering (KChannelDB):	448
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	Position 516 in K+ voltage-gated channels (Kv1-12,Kca2-5) family Position 293 in Potassium channels 6 TMs family
Reference:	Regional specificity of human ether-a'-go-go-related gene channel activation and inactivation gating. Piper DR, Hinz WA, Tallurri CK, Sanguinetti MC, Tristani-Firouzi M J Biol Chem 2005 Feb 25;280(8):7206-17. Epub 2004 Nov 4.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

L529A

Two mutant channels (K525A and L529A) did not express sufficiently to allow measurement of ionic or gating currents and were excluded from further study
Residues corresponding to the largest perturbations in |{Delta}{Delta}G Q rel- V| (bright blue) mapped onto a spiral thread that turns around the length of S4 , interrupted by the two non-expressing mutants K525A and L529A (Fig. 3D and Supplemental Movie 1)

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