UniProtKB/Swiss-Prot P38398: Variant p.Lys1183Arg

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

1183 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 Lysine (K) to Arginine (R) at position 1183 (K1183R, p.Lys1183Arg). 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 large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 rs16942 [ dbSNP | Ensembl ]

Sequence information Variant position:

1183 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:

TSFAENDIKESSAVFSKSVQ K GELSRSPSPFTHTHLAQGYR 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                         TSFAENDIKESSAVFSKSVQKGELSRSPSPFTHTHLAQGYR

Gorilla                       TSFAKNDIKESSAVFSKNVQRGELSRSPSPFTHTHLAQGYR

                              VSFAESDIKEKSAVFSKSVQSGEFSRSPSPSDHTRLAQGYQ

Rhesus macaque                TSFAANDIKESSAVFSKSIQRGELSRSPSPFTHTHLAQGYQ

Chimpanzee                    TSFAENDIKESSAVFSKSVQRGELSRSPSPFTHTHLAQGYR

Mouse                         TSFGEGDIMERSAVFNGSILRRESSRSPSPVTHASKSQSLH

Rat                           ASFGEGGITEKSAIFNGSVLRRESSRSPSPVTHASKSRSLH

Bovine                        SHFAESDIKERSAVFSESVQKGEFRGSPGPFTHTHLAQGHQ

Caenorhabditis elegans        VSFASSQDLENIKIMTAS---ESLETPPEPI----------

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	1181 – 1216	Disordered
Compositional bias	1181 – 1196	Polar residues
Modified residue	1189 – 1189	Phosphoserine
Modified residue	1191 – 1191	Phosphoserine
Alternative sequence	64 – 1863	Missing. In isoform 2.
Alternative sequence	224 – 1365	Missing. In isoform 5.
Alternative sequence	264 – 1366	Missing. In isoform 3 and isoform 6.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-275; ARG-356; ASN-693; LEU-871; GLY-1038; ASN-1040; GLY-1140; ARG-1183; GLY-1613 AND ALA-1620; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 6 AND 7); VARIANTS LEU-871; GLY-1038; ARG-1183; GLY-1613 AND ILE-1652; Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.
Friedman L.S.; Ostermeyer E.A.; Szabo C.I.; Dowd P.; Lynch E.D.; Rowell S.E.; King M.-C.;
Nat. Genet. 8:399-404(1994)
Cited for: VARIANT BC GLY-61; VARIANTS ARG-356; GLY-1038; ASN-1040; ARG-1183 AND GLY-1613; Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.
Li S.S.-L.; Tseng H.-M.; Yang T.-P.; Liu C.-H.; Teng S.-J.; Huang H.-W.; Chen L.-M.; Kao H.-W.; Chen J.H.; Tseng J.-N.; Chen A.; Hou M.-F.; Huang T.-J.; Chang H.-T.; Mok K.-T.; Tsai J.-H.;
Hum. Genet. 104:201-204(1999)
Cited for: VARIANT BC SER-346; VARIANTS LEU-871; GLY-1038; ARG-1183 AND GLY-1613; Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.
Valarmathi M.T.; Sawhney M.; Deo S.S.V.; Shukla N.K.; Das S.N.;
Hum. Mutat. 23:205-205(2004)
Cited for: VARIANTS BC/BROVCA1 LYS-10; LYS-23; ILE-1187; HIS-1200 AND TYR-1217; VARIANTS BC ILE-1204 AND ASN-1207; VARIANTS BROVCA1 LEU-1226 AND GLY-1243; VARIANT ARG-1183; BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.
Seo J.H.; Cho D.-Y.; Ahn S.-H.; Yoon K.-S.; Kang C.-S.; Cho H.M.; Lee H.S.; Choe J.J.; Choi C.W.; Kim B.S.; Shin S.W.; Kim Y.H.; Kim J.S.; Son G.-S.; Lee J.-B.; Koo B.H.;
Hum. Mutat. 24:350-350(2004)
Cited for: VARIANTS HIS-856; LEU-871; GLY-1038; ARG-1183; THR-1628; GLN-1690 AND GLY-1713;

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.