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 N470D 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 N470D in KCNH2_HUMAN

Point mutation:	N470D
Domain:	TRANSMEM II
General numbering (KChannelDB):	245
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 470 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 470 in eag related KCNH (Kv10-12) family Position 454 in K+ voltage-gated channels (Kv1-12,Kca2-5) family Position 240 in Potassium channels 6 TMs family
Reference:	Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome. Ficker E, Thomas D, Viswanathan PC, Dennis AT, Priori SG, Napolitano C, Memmi M, Wible BA, Kaufman ES, Iyengar S, Schwartz PJ, Rudy Y, Brown AM Am J Physiol Heart Circ Physiol 2000 Oct;279(4):H1748-56.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

N470D

For the hypomorphic HERG mutation N470D , it was shown more recently that trafficking can be improved not only by incubation at low temperature but also in the presence of osmolytes or the specific channel ligand E-4031 (31 )
More recently it was reported that the antiarrhythmic drug E-4031 improves trafficking of the hypomorphic mutation HERG N470D (31 )
The failure of glycerol treatment to facilitate trafficking of HERG R752W was surprising because trafficking of HERG N470D , a hypomorphic mutation in the transmembrane domain of HERG , was improved by incubation in 10% glycerol (31 )
Similarly , the antiarrhythmic drug E-4031 facilitated trafficking of HERG N470D , but was ineffective on the R752W mutant

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