UniProtKB/SwissProt variant VAR

Variant information

Variant position:

73

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Cysteine (C) at position 73 (R73C, p.Arg73Cys).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (C)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In CPHD2; familial; no detectable DNA binding observed with the mutant protein in electromobility shift assays; whereas in vitro translated PROP1 and the mutant proteins were similar in their expression and electrophoretic properties.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121917843 [ dbSNP | Ensembl ]

Sequence information

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:

RSRFSPQGGQRGRPHSRRRH R TTFSPVQLEQLESAFGRNQY

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                         RSRFSPQGGQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQY

Gorilla                       RSRFSPQGGQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQY

Mouse                         RPKLCP---QRGRPHSRRRHRTTFNPAQLEQLESAFGRNQY

Pig                           RPRLSPQGGQRGRPHSRRRHRTTFSPAQLEQLESAFGRNQY

Bovine                        RPKLSLQGVQRGRPHSRRRHRTTFSPAQLEQLESAFGRNQY

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
Chain	1 – 226	Homeobox protein prophet of Pit-1
DNA binding	69 – 128	Homeobox
Region	1 – 75	Disordered

Literature citations

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75360: Variant p.Arg73Cys