Linked Life Data

8929875

Source:http://linkedlifedata.com/resource/pubmed/id/8929875

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1997-2-6
pubmed:abstractText
We identified three novel mutations of the arginine vasopressin (AVP) V2 receptor (AVPR2) gene in Japanese families with X-linked congenital nephrogenic diabetes insipidus (NDI). In kindred #1 of siblings, a single base deletion of one out of three guanosines (nucleotides 786-788, 786delG) was detected. This deletion shifts the reading frame with an altered amino acid sequence and introduces a premature stop codon (TGA) at position 270. In kindred #2 of siblings and one unrelated additional patient (patient #3), point mutations that change the same Pro residue at codon 322 in the seventh transmembrane domain to either a Ser or His (P322S or P322H) were detected. This P322 residue is well conserved among rat V1 and V2 receptors, the human oxytocin receptor, and other G protein-coupled receptors, and is thought to be important for proper insertion of the receptor into the membrane. The AVPR2 mutations are heterogeneous both in Japanese and Caucasians populations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0031-3998
pubmed:author
pubmed:issnType
Print
pubmed:volume
39
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
522-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus.
pubmed:affiliation
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
pubmed:publicationType
Journal Article