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 I182V 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 I182V in IRK11_HUMAN

Point mutation:	I182V
Domain:	C-term
General numbering (KChannelDB):	-
Protein:	IRK11_HUMAN (KCNJ1)	Swiss-Prot Cross-reference table Family page
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 176 in Inward rectifiers (Kir) family Position 176 in Potassium channels 2 TMs family
Reference:	Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. Tammaro P, Girard C, Molnes J, Njolstad PR, Ashcroft FM EMBO J 2005 Jul 6;24(13):2318-30. Epub 2005 Jun 16.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

I182V

Furthermore , the I182V mutation causes PNDM (Gloyn et al , 2005 )
Thus , the I296L mutation associated with DEND syndrome (Proks et al , 2005 ) causes a larger resting current than mutations that produce neonatal diabetes alone (R201H ; Gloyn et al , 2005 ) or cause transient neonatal diabetes (G35S / R , I182V ; Gloyn et al , 2005 )
At 3 mM ATP , which lies with the range found in pancreatic beta-cells in the presence of glucose (Detimary et al , 1995 ) , the K ATP current amplitude was 32 , 8 , 4 , 6 and 5% of that in the absence of nucleotide for I296L , R201H , G35S , G35R and I182V , respectively (Gloyn et al , 2005 ; Proks et al , 2005 )

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