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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P28069: Variant p.Ala158Pro

Pituitary-specific positive transcription factor 1
Gene: POU1F1
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Variant information Variant position: help 158
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Proline (P) at position 158 (A158P, p.Ala158Pro).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (P)
BLOSUM score: help -1
Variant description: help In CPHD1.
Other resources: help


Sequence information Variant position: help 158
Protein sequence length: help 291
Location on the sequence: help EFKVRRIKLGYTQTNVGEAL A AVHGSEFSQTTICRFENLQL
Residue conservation: help 
Human                         EFKVR-----------------------------------------------------RIKLGY--TQTNVGEALAAVHGSEFSQTTICRFENLQL

                              EFKVR------------------------------------

Rhesus macaque                EFKVR------------------------------------

Mouse                         EFKVR------------------------------------

Rat                           EFKVR------------------------------------

Pig                           EFKVR------------------------------------

Bovine                        EFKVR------------------------------------

Sheep                         EFKVR------------------------------------

Chicken                       EFKLR------------------------------------

Fission yeast                 LFSPPWNLAFASMLSQLLKWDPAKRPTAEMCLDLEFCRVSA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 291 Pituitary-specific positive transcription factor 1
Domain 124 – 198 POU-specific
Helix 158 – 161



Literature citations
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.
Pfaeffle R.W.; DiMattia G.E.; Parks J.S.; Brown M.R.; Wit J.M.; Jansen M.; van der Nat H.; van den Brande J.L.; Rosenfeld M.G.; Ingraham H.A.;
Science 257:1118-1121(1992)
Cited for: VARIANT CPHD1 PRO-158;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.