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 Y330C 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 Y330C in IRK11_HUMAN

Point mutation:	Y330C
Domain:	C-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 330 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 324 in Inward rectifiers (Kir) family Position 324 in Potassium channels 2 TMs family
Reference:	Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Vaxillaire M, Populaire C, Busiah K, Cave H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M Diabetes 2004 Oct;53(10):2719-22.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

Y330C

We identified in nine patients seven heterozygous nonsynonymous mutations: three of them (V59M , R201C , and R201H) were already described , and the four novel mutations resulted in an amino acid change of Kir6.2 at positions F35L , G53N , E322K , and Y330C
Three of them (V59M , R201C , and R201H) have been previously described (5 ) , and the four novel mutations resulted in amino acid substitutions at the following positions: F35L , G53N , E322K , and Y330C (Table 1 )

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