Variant position: 265 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 MR----------MAEELNLEKEVVRVWFCN RRQREKRVKT-----SLNQS-LFSISK
Rhesus macaque MR----------MAEELNLEKEVVRVWFCN RRQREKRVKT-
Mouse MR----------MAEELNLEKEVVRVWFCN RRQREKRVKT-
Rat MR----------MAEELNLEKEVVRVWFCN RRQREKRVKT-
Pig LR----------MAEELNLEKEVVRVWFCN RRQREKRVKT-
Bovine LR----------MAEELNLEKEVVRVWFCN RRQREKRVKT-
Sheep LR----------MAEELNLEKEVVRVWFCN RRQREKRVKT-
Chicken MR----------MAEGLNLEKEVVRVWFCN RRQREKRVKT-
Fission yeast LRKTLAYTNSSGTSTVLSNDSSAISSTFLD RDFPDFGITSL
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
214 – 273 Homeobox
255 – 268
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to c ombined pituitary hormone deficiency.
Turton J.P.; Strom M.; Langham S.; Dattani M.T.; Le Tissier P.;
Clin. Endocrinol. (Oxf.) 76:387-393(2012)
Cited for: VARIANT CPHD1 TRP-265; CHARACTERIZATION OF VARIANT CPHD1 TRP-265; FUNCTION;
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.