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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P38398: Variant p.Glu1038Gly

Breast cancer type 1 susceptibility protein
Gene: BRCA1
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Variant information Variant position: help 1038 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamate (E) to Glycine (G) at position 1038 (E1038G, p.Glu1038Gly). 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: help Change from medium size and acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Polymorphism: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 1038 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1863 The length of the canonical sequence.
Location on the sequence: help NIPSTVSTISRNNIRENVFK E ASSSNINEVGSSTNEVGSSI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         N-IPSTVSTISRNNIRENVFKEASSSNINEVGSSTNEVGSSI

Gorilla                       N-IPSTVSTISRNNIRENVFKEASSSNINEVGSSTNEVGSS

                              RVIQSTVSTISQNNIRECASKEVGSSSVNEVVSSTNEVGSS

Rhesus macaque                NIIPSTVSTISHNNIRENAFKEASSSNINEVGSSTNEVGSS

Chimpanzee                    N-IPSTVSTISRNNIRENVFKEASSSNINEVGSSTNEVGSS

Mouse                         NILQSTVHTVSLNN-RGNACQEAGS--------------GS

Rat                           TAVQSTIHTISLNN-RGDACLEASS--------------GS

Bovine                        SIIQSAVSTISQNNIQESTFKEVSSNSVNEVGSSTNEVGSS

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

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1863 Breast cancer type 1 susceptibility protein
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
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-275; ARG-356; ASN-693; LEU-871; GLY-1038; ASN-1040; GLY-1140; ARG-1183; GLY-1613 AND ALA-1620; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 6 AND 7); VARIANTS LEU-871; GLY-1038; ARG-1183; GLY-1613 AND ILE-1652; Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.
Friedman L.S.; Ostermeyer E.A.; Szabo C.I.; Dowd P.; Lynch E.D.; Rowell S.E.; King M.-C.;
Nat. Genet. 8:399-404(1994)
Cited for: VARIANT BC GLY-61; VARIANTS ARG-356; GLY-1038; ASN-1040; ARG-1183 AND GLY-1613; Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.
Li S.S.-L.; Tseng H.-M.; Yang T.-P.; Liu C.-H.; Teng S.-J.; Huang H.-W.; Chen L.-M.; Kao H.-W.; Chen J.H.; Tseng J.-N.; Chen A.; Hou M.-F.; Huang T.-J.; Chang H.-T.; Mok K.-T.; Tsai J.-H.;
Hum. Genet. 104:201-204(1999)
Cited for: VARIANT BC SER-346; VARIANTS LEU-871; GLY-1038; ARG-1183 AND GLY-1613; BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.
Seo J.H.; Cho D.-Y.; Ahn S.-H.; Yoon K.-S.; Kang C.-S.; Cho H.M.; Lee H.S.; Choe J.J.; Choi C.W.; Kim B.S.; Shin S.W.; Kim Y.H.; Kim J.S.; Son G.-S.; Lee J.-B.; Koo B.H.;
Hum. Mutat. 24:350-350(2004)
Cited for: VARIANTS HIS-856; LEU-871; GLY-1038; ARG-1183; THR-1628; GLN-1690 AND GLY-1713;
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.