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 D456A 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 D456A in KCNH2_HUMAN

Point mutation:	D456A
Domain:	Loop 1-2
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 / same position	Point mutations at position 456 in KCNH2_HUMAN
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 456 in eag related KCNH (Kv10-12) family Position 440 in K+ voltage-gated channels (Kv1-12,Kca2-5) family Position 226 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:

D456A

We have begun investigating these putative interactions in hERG and found that D456A causes a positive shift in the voltage dependence of activation ({Delta}{Delta}G g rel- V = 2.67 ą 0.12 kcal / mol , n = 3) as does D460A ({Delta}{Delta}G g rel- V = 2.76 ą 0.13 kcal / mol , n = 5)

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