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UniProtKB/Swiss-Prot Q9BX63: Variant p.Pro1034Leu

Fanconi anemia group J protein
Gene: BRIP1
Variant information

Variant position:  1034
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Proline (P) to Leucine (L) at position 1034 (P1034L, p.Pro1034Leu).
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 a patient with ovarian cancer; unknown pathological significance.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1034
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1249
The length of the canonical sequence.

Location on the sequence:   GKIPKATPELGSSENSASSP  P RFKTEKMESKTVLPFTDKCE
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                         GKIPKATPELGSSENSASSPPRFKTEKMESKTVLPFTDKCE

Mouse                         SKVKNCTPVLKSSKNRAPGSSTFNK------TALPLTGNCV

Chicken                       FKPLTSTPLPVATNCVSTASSKQRKNVNSASELIGGVNQCQ

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.

TypePositionsDescription
Chain 1 – 1249 Fanconi anemia group J protein
Region 888 – 1063 Interaction with BRCA1
Modified residue 1032 – 1032 Phosphoserine
Alternative sequence 995 – 1249 Missing. In isoform 2.


Literature citations

No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families.
Karppinen S.-M.; Vuosku J.; Heikkinen K.; Allinen M.; Winqvist R.;
Eur. J. Cancer 39:366-371(2003)
Cited for: VARIANTS PRO-919 AND LEU-1034;

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.