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 Y542A 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 Y542A in KCNH2_HUMAN

Point mutation:	Y542A
Domain:	Loop 4-5
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	Position 306 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:

Y542A

Five mutations perturbed |{Delta}{Delta}G g rel- V| without altering the associated gating charge movement and were located in the S3-S4 linker (S517A and E518A) , the lower-S4 (K538A) , and the S4-S5 linker (Y542A and S543A)
Only one substitution , Y542A , perturbed the |{Delta}{Delta}G I inact- V| > 1 kcal / mol
Two of these nine inactivation-sensitive residues also perturbed activation (R531A and Y542A) and one (R531A) also perturbed charge movement associated with activation
Y542A perturbed the |{Delta}{Delta}GIinact-V| &ge ; 0.5 kcal / mol , and the |{Delta}{Delta}Ggrel-V| &ge ; 1.0 kcal / mol and is colored orange

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