Gene: PROP paired-like homeobox 1; PROP1


Gene Symbol: PROP1
OMIM: 601538
Chromosome location: 5q35.3

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Pituitary hormone deficiency, combined, 2 || c.301_302delAG

Phenotype:    Pituitary hormone deficiency, combined, 2
Dna Change:    c.301_302delAG
Protein Change:    p.Leu102Cysfs*8
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 2
Transcript:    NM_006261.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANANANADusatkova P et al., 2015Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J, . Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.. Eur. J. Hum. Genet.. 2015; 0(0):

Pituitary hormone deficiency, combined, 2 || c.150delA

Phenotype:    Pituitary hormone deficiency, combined, 2
Dna Change:    c.150delA
Protein Change:    p.Arg53Aspfs*112
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 2
Transcript:    NM_006261.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANANANADusatkova P et al., 2015Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J, . Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.. Eur. J. Hum. Genet.. 2015; 0(0):

References

Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J, Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.Eur. J. Hum. Genet.. 2015; 0(0):