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 A156V 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 A156V in IRK1_HUMAN

Point mutation:	A156V
Domain:	Loop 1-2
General numbering (KChannelDB):	-
Protein:	IRK1_HUMAN (KCNJ1,ROMK)	Swiss-Prot Cross-reference table Family page
Protein isoforms	3
Other point mutations / same protein	List of mutations in IRK1_HUMAN
Family alignments	Inward rectifiers (Kir) Potassium channels 2 TMs
Other point mutations / same position	Position 139 in Inward rectifiers (Kir) family Position 139 in Potassium channels 2 TMs family
Reference:	A Bartter's syndrome mutation of ROMK1 exerts dominant negative effects on K(+) conductance. Kunzelmann K, Hubner M, Vollmer M, Ruf R, Hildebrandt F, Greger R, Schreiber R Cell Physiol Biochem 2000;10(3):117-24.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	True positive

Relevant sentences:

A156V

Two novel ROMK1 mutations , L220F / A156V , have been described recently in a compound heterozygote patient demonstrating typical manifestations of Bartter's syndrome
The same was found in oocytes expressing A156V-ROMK1 only or coexpressing wild type (wt) ROMK1 together with A156V-ROMK1
These effects were not seen in A156V-ROMK1 expressing oocytes
Because no further abnormalities in the properties or regulation of L220F-ROMK1 were detected , we conclude that A156V-ROMK1 has a dominant negative effect on L220F-ROMK1 thereby causing Bartter's syndrome type two in this patient.

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