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 M357T 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 M357T in IRK1_HUMAN

Point mutation:	M357T
Cited point mutation:	Met357Thr
Domain:	C-term
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
Reference:	Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course. Cho JT, Guay-Woodford LM J Korean Med Sci 2003 Feb;18(1):65-8.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	Not yet checked

Relevant sentences:

Met357Thr

We have identified amino acid exchanges Arg338Stop and Met357Thr in the gene exon 5 for ROMK by PCR and direct sequencing

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