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 E23K 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 E23K in IRK11_HUMAN

Point mutation:	E23K
Domain:	N-term
General numbering (KChannelDB):	-
Protein:	IRK11_HUMAN (KCNJ1)	Swiss-Prot Cross-reference table Family page
Other point mutations / same protein / same position	Point mutations at position 23 in IRK11_HUMAN
Other point mutations / same protein	List of mutations in IRK11_HUMAN
Family alignments	Inward rectifiers (Kir) Potassium channels 2 TMs
Other point mutations / same position	Position 13 in Inward rectifiers (Kir) family Position 13 in Potassium channels 2 TMs family
Reference:	Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years. Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EA, Hattersley AT Diabetes 2004 Nov;53(11):2998-3001.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

E23K

A recent large study did not find any association with type 1 diabetes of the single nucleotide polymorphism E23K in KCNJ11 (3 )
In addition , we identified several previously recognized polymorphisms (E23K , A190A , L267L , L270V , I337V , K381K , and S385C)

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