UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1786

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 Leucine (L) to Proline (P) at position 1786 (L1786P, p.Leu1786Pro).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

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 BROVCA1; unknown pathological significance.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs398122697 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1786

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:

ICCYGPFTNMPTDQLEWMVQ L CGASVVKELSSFTLGTGVHP

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                         ICCYGPFTNMPTDQLEWMVQL---CGASVVKELSSFTLGTGVHP

Gorilla                       ICCYGPFTNMPTDQLEWMVQL---CGASVVKELSSFTLGTG

                              ICCYGPFTNMPTDQLEWMVHL---CGASVVKEPSLFTLSKG

Rhesus macaque                ICCYGPFTNMPTDQLEWMVQL---CGASVVKELSSFTLGTG

Chimpanzee                    ICCYGPFTNMPTDQLEWMVQL---CGASVVKELSSFTLGTG

Mouse                         VYCCEPFTNMPKDELERMLQL---CGASVVKELPSLTHDTG

Rat                           IYCCEPFTNMPKDELERMLQL---CGASVVKELPLLTRDTG

Bovine                        ICCYGPFTNMPTDQLEWMVQL---CGASVVKEPSSFTPDQG

Caenorhabditis elegans        FMILRKFTMNPYFDYKQLIELVQQCGGEILSCYENLSPEK-

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.
Alternative sequence	1778 – 1863	DQLEWMVQLCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY -> GCPPNCGCAARCLDRGQWLPCNWADV. In isoform 6.
Helix	1777 – 1786

Literature citations

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
Meyer P.; Voigtlaender T.; Bartram C.R.; Klaes R.;
Hum. Mutat. 22:259-259(2003)
Cited for: VARIANTS BC GLY-61; LYS-71; GLN-866; TYR-888; ILE-1139; GLY-1210 AND PRO-1297; VARIANTS BROVCA1 TYR-835 AND PRO-1786;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P38398: Variant p.Leu1786Pro