Variant position: 24 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 291 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QAFTSADTFIP-----------LNSDASATL PLIMHHSAAECLPVSNHAT---------------NV
Rhesus macaque QAFTSADTFIP-----------LNSDASATL PLIMHHSAAE
Mouse QSFTSADTFIT-----------LNSDASAAL PLRMHHSAAE
Rat QPFTSADTFIP-----------LNSDASAAL PLRMHHSAAE
Pig QPFTSADTFIP-----------LNSESSATL PLIMHHSAAE
Bovine QPFTSTDTFIP-----------LNSESSATL PLIMHPSAAE
Sheep QPFTSTDTFIP-----------LNSESSATL PLIMHPSAAE
Chicken QAFASSDNFVP-----------LNSDSSPSL PLIMHHSAGE
Fission yeast ISIDEVYNVVRKVGDGTFGSVYLATTKTPSK EVVAIKSMKK
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 291 Pituitary-specific positive transcription factor 1
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;
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