RGD Reference Report - Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS). - Rat Genome Database

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Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS).

Authors: Jakubiczka, S  Werder, E A  Wieacker, P 
Citation: Jakubiczka S, etal., Hum Genet. 1992 Nov;90(3):311-2.
RGD ID: 11576240
Pubmed: PMID:1487249   (View Abstract at PubMed)

An exonic single nucleotide substitution in the human androgen receptor gene (hAR) could be detected in an Italian family with two children affected by complete androgen insensitivity syndrome (CAIS), also called testicular feminization. This mutation leads to a guanine to adenine transition in exon 5, changing the sense of the codon from methionine (ATG) to valine (GTG). As this mutation abolishes a NcoI restriction site, a rapid test for the mutation can be performed by digestion of the polymerase chain reaction products with this enzyme. Previous results of indirect gene diagnosis in this family could be confirmed by this method.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
androgen insensitivity syndrome  IAGP 11576240DNA:missense mutation:exon:p.M749V (human)RGD 
androgen insensitivity syndrome  ISOAR (Homo sapiens)11576240; 11576240DNA:missense mutation:exon:p.M749V (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Inguinal hernia  IAGP 11576240DNA:missense mutation:exon:p.M749VRGD 
Objects Annotated

Genes (Rattus norvegicus)
Ar  (androgen receptor)

Genes (Mus musculus)
Ar  (androgen receptor)

Genes (Homo sapiens)
AR  (androgen receptor)


Additional Information