UniProtKB/Swiss-Prot P08476: Variant p.Gly280Glu

Inhibin beta A chain
Gene: INHBA
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Variant information Variant position:

280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glycine (G) to Glutamate (E) at position 280 (G280E, p.Gly280Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Found in a patient with early-onset epithelial ovarian tumor; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

426 The length of the canonical sequence.
Location on the sequence:

KKKKEEEGEGKKKGGGEGGA G ADEEKEQSHRPFLMLQARQS 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                         KKKKEEEGEGKKKGGGEGGAGADEEKEQSHRPFLMLQARQS

Mouse                         KKKKEVDGDGKKKDGSDGGL--EEEKEQSHRPFLMLQARQS

Rat                           KKKKEVDGDGKKKDGSDGGL--EEEKEQSHRPFLMLQARQS

Pig                           KKKKEEEAEGRKRDG--EGAGVDEEKEQSHRPFLMLQARQS

Bovine                        KKKKEEEGEGKKRDG-EGGAGGDEEKEQSHRPFLMLQARQS

Sheep                         KKRKEEEGEGKKRDG-EGGAGGDEEKEQSHRPFLMLQARQS

Cat                           KKKKEEEGEGKKKDGGDGGAGADEDKEQSHRPFLMLQARQS

Horse                         KKKKEEEGEGKKKDGGEAGAGVDEEKEQSHRPFLMLQARQS

Chicken                       KKKKEDDGEGKEKDG--GELTGEEEKEQSHRPFLMMLARHS

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
Propeptide	21 – 310
Region	259 – 288	Disordered

Literature citations
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Tournier I.; Marlin R.; Walton K.; Charbonnier F.; Coutant S.; Thery J.C.; Charbonnier C.; Spurrell C.; Vezain M.; Ippolito L.; Bougeard G.; Roman H.; Tinat J.; Sabourin J.C.; Stoppa-Lyonnet D.; Caron O.; Bressac-de Paillerets B.; Vaur D.; King M.C.; Harrison C.; Frebourg T.;
Hum. Mutat. 35:294-297(2014)
Cited for: VARIANTS GLU-280 AND SER-386; CHARACTERIZATION OF VARIANT SER-386;

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.