Variant position: 73 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 226 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 RSRFSPQGGQRGRPHSRRRH RTTFSPVQLEQLESAFGRNQY
Gorilla RSRFSPQGGQRGRPHSRRRH RTTFSPVQLEQLESAFGRNQY
Mouse RPKLCP---QRGRPHSRRRH RTTFNPAQLEQLESAFGRNQY
Pig RPRLSPQGGQRGRPHSRRRH RTTFSPAQLEQLESAFGRNQY
Bovine RPKLSLQGVQRGRPHSRRRH RTTFSPAQLEQLESAFGRNQY
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 – 226 Homeobox protein prophet of Pit-1
69 – 128 Homeobox
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency.
Duquesnoy P.; Roy A.; Dastot F.; Ghali I.; Teinturier C.; Netchine I.; Cacheux V.; Hafez M.; Salah N.; Chaussain J.-L.; Goossens M.; Bougneres P.; Amselem S.;
FEBS Lett. 437:216-220(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS SER-20 AND CPHD CYS-73;
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
Vallette-Kasic S.; Barlier A.; Teinturier C.; Diaz A.; Manavela M.; Berthezene F.; Bouchard P.; Chaussain J.-L.; Brauner R.; Pellegrini-Bouiller I.; Jaquet P.; Enjalbert A.; Brue T.;
J. Clin. Endocrinol. Metab. 86:4529-4535(2001)
Cited for: VARIANTS CPHD2 CYS-73 AND HIS-73;
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.
Reynaud R.; Chadli-Chaieb M.; Vallette-Kasic S.; Barlier A.; Sarles J.; Pellegrini-Bouiller I.; Enjalbert A.; Chaieb L.; Brue T.;
J. Clin. Endocrinol. Metab. 89:5779-5786(2004)
Cited for: VARIANT CPHD2 CYS-73; CHARACTERIZATION OF VARIANT CPHD2 CYS-73;
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