UniProtKB/Swiss-Prot P38398: Variant p.His239Arg

Breast cancer type 1 susceptibility protein
Gene: BRCA1
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Variant information Variant position:

239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

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:

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:

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:

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:

Links to websites of interest for the variant.

Variant rs80357396 [ dbSNP | Ensembl ]

Sequence information Variant position:

239 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:

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:

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:

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
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.