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 D71V 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 D71V in IRK2_HUMAN

Point mutation:	D71V
Domain:	N-term
General numbering (KChannelDB):	-
Protein:	IRK2_HUMAN (KCNJ2,HIRK)	Swiss-Prot Cross-reference table Family page
Other point mutations / same protein / same position	Point mutations at position 71 in IRK2_HUMAN
Other point mutations / same protein	List of mutations in IRK2_HUMAN
Family alignments	Inward rectifiers (Kir) Potassium channels 2 TMs
Other point mutations / same position	Position 50 in Inward rectifiers (Kir) family Position 50 in Potassium channels 2 TMs family
Reference:	Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Lopes CM, Zhang H, Rohacs T, Jin T, Yang J, Logothetis DE Neuron 2002 Jun 13;34(6):933-44.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

D71V

Six of these mutations occur in the intracellular portion of the channel (D71V , R218Q / W , G300V , E303K , 314-315)
Two of the mutations (D71V and R218W) were shown to decrease current levels when coexpressed with wild-type subunits and showed no current when expressed alone (Plaster et al. , 2001(image) )
We coexpressed wild-type with mutant subunits for mutations occurring in each of the residues in the intracellular domains of Kir2.1 (D71V , R218Q , G300V , E303K , 314-315)
For two mutations (D71V and 314-315) , there was no decrease in the strength of PIP2 interactions

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