UniProtKB/Swiss-Prot Q9GKK8: Variant p.Lys731Glu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 731 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 Lysine (K) to Glutamate (E) at position 731 (K731E, p.Lys731Glu). 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 large size and basic (K) to medium size and acidic (E) 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

Sequence information

Variant position: 731 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: NCSNTSELKEFVNPSLPREE K EEKLETVKVSNNAEDPKDLM 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.
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 homolog
Region	650 – 739	Disordered
Compositional bias	723 – 739	Basic and acidic residues
Modified residue	725 – 725	Phosphoserine
Cross	734 – 734	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross	739 – 739	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)

Literature citations

Positive selection on the human BRCA1 gene may have resulted from pressure for prolonged care for infants.
Takeda R.; Hink R.L.; Jogodka C.; Walter N.A.R.; Messier W.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS GLU-309; GLY-590; GLU-731 AND GLU-1100; Evolutionary sequence comparisons using high-density oligonucleotide arrays.
Hacia J.G.; Makalowski W.; Edgemon K.; Erdos M.R.; Robbins C.M.; Fodor S.P.A.; Brody L.C.; Collins F.S.;
Nat. Genet. 18:155-158(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 225-1365; VARIANTS GLU-731 AND GLU-1100;