UniProtKB/Swiss-Prot P38398: Variant p.Glu1060Ala

Breast cancer type 1 susceptibility protein
Gene: BRCA1
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Variant information Variant position:

1060 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Glutamate (E) to Alanine (A) at position 1060 (E1060A, p.Glu1060Ala). 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 acidic (E) to small size and hydrophobic (A) 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
Polymorphism:

There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Pro polymorphisms may be associated with an increased risk for developing ovarian cancer. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs80357184 [ dbSNP | Ensembl ]

Sequence information Variant position:

1060 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:

SSSNINEVGSSTNEVGSSIN E IGSSDENIQAELGRNRGPKL 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                         SSSNINEVGSSTNEVGSSINEIGSSDENIQAELGRNRGPKL

Gorilla                       SSSNINEVGSSTNEVGSSINEVGSSDENIQAELGRNRGPKL

                              GSSSVNEVVSSTNEVGSSVNEVGSSGENIQAELGRNRGPKL

Rhesus macaque                SSSNINEVGSSTNEVGSSINEVGPSDENIQAELGRNRGPKL

Chimpanzee                    SSSNINEVGSSTNEVGSSINEVGSSDENIQAELGRNRGPKL

Mouse                         GS--------------GSIHEVCSTGDSFPGQLGRNRGPKV

Rat                           SS--------------GSVIEVHSTGENVQGQLDRNRGPKV

Bovine                        SSNSVNEVGSSTNEVGSSVNEVGSSGENIQAEPGRNREPKL

Caenorhabditis elegans        -----------------------------------------

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
Cross	1079 – 1079	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Alternative sequence	64 – 1863	Missing. In isoform 2.
Alternative sequence	224 – 1365	Missing. In isoform 5.
Alternative sequence	264 – 1366	Missing. In isoform 3 and isoform 6.

Literature citations
BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.
Claes K.; Poppe B.; Coene I.; De Paepe A.; Messiaen L.;
Br. J. Cancer 90:1244-1251(2004)
Cited for: VARIANTS ASN-693; ASN-1040; ALA-1060 AND MET-1665; 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;

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.