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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P38398: Variant p.Val1736Ala

Breast cancer type 1 susceptibility protein
Gene: BRCA1
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Variant information Variant position: help 1736 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Valine (V) to Alanine (A) at position 1736 (V1736A, p.Val1736Ala). 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 hydrophobic (V) to small size and hydrophobic (A) 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

Variant description: help In BC and FANCS; uncertain significance; Decreased localization to DNA damage sites and reduced interaction with UIMC1/RAP80. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1736 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 YFWVTQSIKERKMLNEHDFE V RGDVVNGRNHQGPKRARESQ 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                         YFWVTQSIKERKMLNEHDFEVR--GDVVNGR------NHQGPKRA-----RESQ

Gorilla                       YFWVTQSIKEGKMLNEHDFEVR--GDVVNGR------NHQG

                              YFWVTQSIKERKILDEHDFEVR--GDVVNGR------NHQG

Rhesus macaque                YFWVTQSIKERKMLNEHDFEVR--GDVVNGR------NHQG

Chimpanzee                    YFWVTQSIKERKMLNEHDFEVR--GDVVNGR------NHQG

Mouse                         YSWVVRSIQERRLLNVHEFEVK--GDVVTGR------NHQG

Rat                           YSWVIKSIQERKLLSVHEFEVK--GDVVTGS------NHQG

Bovine                        YFWVTQSIKEGKMLDEHDFEVR--GDVVNGR------NHQG

Caenorhabditis elegans        RQWLVDCITTGLLLSEADYTITSCSSTIPVKIPPSIGSEMG

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
Domain 1642 – 1736 BRCT 1
Alternative sequence 64 – 1863 Missing. In isoform 2.
Mutagenesis 1738 – 1738 G -> E. Abolishes interaction with BRIP1.
Mutagenesis 1755 – 1755 S -> A. No effect on in vitro phosphorylation by ATR.



Literature citations
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
Domchek S.M.; Tang J.; Stopfer J.; Lilli D.R.; Hamel N.; Tischkowitz M.; Monteiro A.N.; Messick T.E.; Powers J.; Yonker A.; Couch F.J.; Goldgar D.E.; Davidson H.R.; Nathanson K.L.; Foulkes W.D.; Greenberg R.A.;
Cancer Discov. 3:399-405(2013)
Cited for: VARIANT FANCS ALA-1736; CHARACTERIZATION OF VARIANT FANCS ALA-1736; SUBCELLULAR LOCATION; INTERACTION WITH UIMC1; A high-throughput functional complementation assay for classification of BRCA1 missense variants.
Bouwman P.; van der Gulden H.; van der Heijden I.; Drost R.; Klijn C.N.; Prasetyanti P.; Pieterse M.; Wientjens E.; Seibler J.; Hogervorst F.B.; Jonkers J.;
Cancer Discov. 3:1142-1155(2013)
Cited for: CHARACTERIZATION OF VARIANTS BC PHE-4; THR-18; GLN-45; GLY-61; GLY-64; TYR-67; LYS-132; HIS-142; PHE-147; PRO-165; TRP-170; TYR-186; ILE-191; MET-231; VAL-245; VAL-246; LEU-271; PHE-668; ASN-695; LEU-798; TYR-810; LYS-826; GLN-841; HIS-856; ASN-1101; ASN-1140; GLY-1140; LYS-1214; LYS-1236; SER-1267; VAL-1282; SER-1297 DEL; ARG-1301; LYS-1346; ILE-1378; VAL-1400; PRO-1407; THR-1411; GLY-1443; GLY-1448; CYS-1486; MET-1534; PRO-1589; THR-1628; PRO-1651; PHE-1651; PHE-1655; ARG-1686; GLN-1686; VAL-1688 DEL; ILE-1691; TRP-1699; GLN-1699; GLU-1706; ALA-1706; GLU-1708; CYS-1718; ALA-1720; LYS-1735; ALA-1736; GLY-1739; VAL-1739; GLN-1746; THR-1753; PRO-1764; SER-1767; VAL-1770; CYS-1782; THR-1789; ASP-1794; ASP-1804; ARG-1812; ARG-1837 AND LEU-1862; VARIANTS CYS-105; CYS-866; ALA-1060; LYS-1250 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.