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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P28069: Variant p.Arg143Gln

Pituitary-specific positive transcription factor 1
Gene: POU1F1
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Variant information Variant position: help 143
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 143 (R143Q, p.Arg143Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In CPHD1.
Other resources: help


Sequence information Variant position: help 143
Protein sequence length: help 291
Location on the sequence: help DMDSPEIRELEKFANEFKVR R IKLGYTQTNVGEALAAVHGS
Residue conservation: help 
Human                         DMDSPEIRELEKFANEFKVR-----------------------------------------------------RIKLGY--TQTNVGEALAAVHGS

                              DTESPEIRELEKFANEFKVR---------------------

Rhesus macaque                DMDSPEIRELEKFANEFKVR---------------------

Mouse                         DMDSPEIRELEQFANEFKVR---------------------

Rat                           DMDSPEIRELEQFANEFKVR---------------------

Pig                           DMDSPEIRELEKFPNEFKVR---------------------

Bovine                        DMDSPEIRELEKFANEFKVR---------------------

Sheep                         DMDSPEIRELEKFANEFKVR---------------------

Chicken                       DMDSPEIRELEKFANEFKLR---------------------

Fission yeast                 GISLPKMAPLD-FGDLFSPPWNLAFASMLSQLLKWDPAKRP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 291 Pituitary-specific positive transcription factor 1
Domain 124 – 198 POU-specific
Helix 127 – 145



Literature citations
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.
Ohta K.; Nobukuni Y.; Mitsubuchi H.; Fujimoto S.; Matsuo N.; Inagaki H.; Endo F.; Matsuda I.;
Biochem. Biophys. Res. Commun. 189:851-855(1992)
Cited for: VARIANTS CPHD1 LEU-24; GLN-143 AND TRP-271;
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.