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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P38398: Variant p.Pro1637Leu

Breast cancer type 1 susceptibility protein
Gene: BRCA1
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Variant information Variant position: help 1637 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 Proline (P) to Leucine (L) at position 1637 (P1637L, p.Pro1637Leu). 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 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: help -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

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 1637 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 AHTTDTAGYNAMEESVSREK P ELTASTERVNKRMSMVVSGL 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                         AHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGL

Gorilla                       AHTTNTAGYHAMEESVSREKPELTASTERVNKRMSMVVSGL

                              VHIASTAGYNKSEDSVGIEKPEVISSTRGVNKRISMVASGL

Rhesus macaque                AHNTNTAGYNAMEESVSRENPKLTASTERVNKRMSLVVSGL

Chimpanzee                    AHTTNTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGL

Mouse                         AGADK-----AVVGIVSKIKPELTSSEERADRDISMVVSGL

Rat                           GGADT-----AVVEIVSKIKPEVTSPKERAERDISMVVSGL

Bovine                        AHIANTTRCNLREESMSKEKPEVISSTERSKKRLSMVASGL

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.
Mutagenesis 1655 – 1655 S -> A. Abolishes interaction with BRIP1.
Mutagenesis 1656 – 1656 G -> D. No effect on affinity for a BRIP1 phosphopeptide.



Literature citations
BRCA1 mutations in primary breast and ovarian carcinomas.
Futreal P.A.; Liu Q.; Shattuck-Eidens D.; Cochran C.; Harshman K.; Tavtigian S.; Bennett L.M.; Haugen-Strano A.; Swensen J.; Miki Y.; Eddington K.; McClure M.; Frye C.; Weaver-Felhaus J.; Ding W.; Gholami Z.; Soederkvist P.; Terry L.; Jhanwar S.; Berchuk A.; Iglehart J.D.; Marks J.; Ballinger D.G.; Barrett J.C.; Skolnick M.H.; Kamb A.; Wiseman R.;
Science 266:120-122(1994)
Cited for: VARIANT BC ARG-1775; VARIANTS LEU-1637 AND GLU-1708; Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.
Andersen T.I.; Eiken H.G.; Couch F.; Kaada G.; Skrede M.; Johnsen H.; Aloysius T.A.; Tveit K.M.; Tranebjaerg L.; Doerum A.; Moeller P.; Weber B.L.; Boerresen-Dale A.-L.;
Hum. Mutat. 11:166-174(1998)
Cited for: VARIANT BC GLY-64; VARIANTS ALA-772; GLU-820; ASN-1040; GLY-1443; ILE-1512; LEU-1637 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.