Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P38398: Variant p.His239Arg

Breast cancer type 1 susceptibility protein
Gene: BRCA1
Feedback?
Variant information Variant position: help 239 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 Histidine (H) to Arginine (R) at position 239 (H239R, p.His239Arg). 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 polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 239 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 DSAKKAACEFSETDVTNTEH H QPSNNDLNTTEKRAAERHPE 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                         DSAKKAACEFSETDVTNTEHHQPSNNDLNTTEKRAAERHPE

Gorilla                       DSAKKAACEFSETDVTNTEHHQPSNNDLNTTEKRATERHPE

                              NPAKKAACEFSG-DITNIEHHQSSNKDLTTTEKHATKKHPE

Rhesus macaque                DSAKKAACEFSEKDITNTEHHQSSNNDLNTTEKHATERHPE

Chimpanzee                    DSAKKAACEFSETDVTNTEHHQPSNNDLNTTEKRATERHPE

Mouse                         HSAEEAACEFSE-GIRNIEHHQCSD-DLNPTENHATERHPE

Rat                           NSAKKAACDFSE-GIRNIEHHQCSDKDLNPTENHATERHPE

Bovine                        NPAEKAACEFSEKDITNTEHHQLSIKDLITTQKHATETHPE

Caenorhabditis elegans        NDGKRCAPDFA------------------------------

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
Region 230 – 270 Disordered
Compositional bias 230 – 248 Polar residues
Alternative sequence 64 – 1863 Missing. In isoform 2.
Alternative sequence 224 – 1365 Missing. In isoform 5.



Literature citations
Differential subcellular localization, expression and biological toxicity of BRCA1 and the splice variant BRCA1-delta11b.
Wilson C.A.; Payton M.N.; Elliott G.S.; Buaas F.W.; Cajulis E.E.; Grosshans D.; Ramos L.; Reese D.M.; Slamon D.J.; Calzone F.J.;
Oncogene 14:1-16(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); SUBCELLULAR LOCATION (ISOFORM 2); VARIANTS ARG-239 AND GLY-1613; TISSUE SPECIFICITY (ISOFORMS 1 AND 3); A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.
Dong J.; Chang-Claude J.; Wu Y.; Schumacher V.; Debatin I.; Tonin P.; Royer-Pokora B.;
Hum. Genet. 103:154-161(1998)
Cited for: VARIANT BC GLY-61; VARIANTS ARG-239; TRP-841 AND ILE-1512;
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.