Gene Symbol: AIP
OMIM: 605555Chromosome location: 11q13.2
Related informations:  
NCBI Gene  
Genome Browser  
Ensembl  
UniProt  
GeneCards  
Kyoto Encyclopedia  
BioGPS  
HGNC  
HPRD  
Phenotype: |    Pituitary adenoma, growth hormone-secreting |
---|
Dna Change: |    c.910C>T |
---|
Protein Change: |    p.Arg304X |
---|
Mutation Type: |    Substitution |
---|
Mutation Effect: |    Nonsense |
---|
Location: |    exon 6 |
---|
Transcript: |    NM_003977.2 |
---|
Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
---|
Italy | NA | central | 7 patients/ 3 families | NA | Occhi G et al., 2010Occhi G, Jaffrain-Rea ML, Trivellin G, Albiger N, Ceccato F, De Menis E, Angelini M, Ferasin S, Beckers A, Mantero F, Scaroni C, . The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect?. J. Endocrinol. Invest.. 2010; 33(11):800-5 |
References
Occhi G, Jaffrain-Rea ML, Trivellin G, Albiger N, Ceccato F, De Menis E, Angelini M, Ferasin S, Beckers A, Mantero F, Scaroni C, The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect?J. Endocrinol. Invest.. 2010; 33(11):800-5