UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1767

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 Cysteine (C) to Serine (S) at position 1767 (C1767S, p.Cys1767Ser).

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 medium size and polar (C) to small size and polar (S)

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

BLOSUM score:

-1

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 BC; unknown pathological significance; functionally neutral in vitro.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1597804426 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1767

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

Protein sequence length:

1863

The length of the canonical sequence.

Location on the sequence:

QGPKRARESQDRKIFRGLEI C CYGPFTNMPTDQLEWMVQLC

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                         QGPKRA-----RESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQL---C

Gorilla                       QGPKRA-----RESQDRKIFRGLDICCYGPFTNMPTDQLEW

                              QGPKRARESQDRESQDRKIFRGLEICCYGPFTNMPTDQLEW

Rhesus macaque                QGPKRA-----RESPDRKIFRGLEICCYGPFTNMPTDQLEW

Chimpanzee                    QGPKRA-----RESQDRKIFRGLEICCYGPFTNMPTDQLEW

Mouse                         QGPRRS-----RESRE-KLFKGLQVYCCEPFTNMPKDELER

Rat                           QGPRRS-----RESQE-KLFEGLQIYCCEPFTNMPKDELER

Bovine                        QGPKRA-----RESRDKKIFKGLEICCYGPFTNMPTDQLEW

Caenorhabditis elegans        MGWLRS-----RNDEHGKLFAGRRFMILRKFTMNPYFDYKQ

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 – 1863	Breast cancer type 1 susceptibility protein
Domain	1756 – 1855	BRCT 2
Alternative sequence	64 – 1863	Missing. In isoform 2.
Mutagenesis	1755 – 1755	S -> A. No effect on in vitro phosphorylation by ATR.
Beta strand	1765 – 1768

Literature citations

A high-throughput functional complementation assay for classification of BRCA1 missense variants.
Bouwman P.; van der Gulden H.; van der Heijden I.; Drost R.; Klijn C.N.; Prasetyanti P.; Pieterse M.; Wientjens E.; Seibler J.; Hogervorst F.B.; Jonkers J.;
Cancer Discov. 3:1142-1155(2013)
Cited for: CHARACTERIZATION OF VARIANTS BC PHE-4; THR-18; GLN-45; GLY-61; GLY-64; TYR-67; LYS-132; HIS-142; PHE-147; PRO-165; TRP-170; TYR-186; ILE-191; MET-231; VAL-245; VAL-246; LEU-271; PHE-668; ASN-695; LEU-798; TYR-810; LYS-826; GLN-841; HIS-856; ASN-1101; ASN-1140; GLY-1140; LYS-1214; LYS-1236; SER-1267; VAL-1282; SER-1297 DEL; ARG-1301; LYS-1346; ILE-1378; VAL-1400; PRO-1407; THR-1411; GLY-1443; GLY-1448; CYS-1486; MET-1534; PRO-1589; THR-1628; PRO-1651; PHE-1651; PHE-1655; ARG-1686; GLN-1686; VAL-1688 DEL; ILE-1691; TRP-1699; GLN-1699; GLU-1706; ALA-1706; GLU-1708; CYS-1718; ALA-1720; LYS-1735; ALA-1736; GLY-1739; VAL-1739; GLN-1746; THR-1753; PRO-1764; SER-1767; VAL-1770; CYS-1782; THR-1789; ASP-1794; ASP-1804; ARG-1812; ARG-1837 AND LEU-1862; VARIANTS CYS-105; CYS-866; ALA-1060; LYS-1250 AND ILE-1652;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P38398: Variant p.Cys1767Ser