Sequence information
Variant position: 1699 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:
LITEETTHVVMKTDAEFVCE
R TLKYFLGIAGGKWVVSYFWV
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 LITEETTH-VVMKTDAEFVCER TLKYFLGIAGGKWVVSYFWV
Gorilla LITEETTH-VVMKTDAEFVCER TLKYFLGIAGGKWVVSYFW
Rhesus macaque LISEETTH-VVMKTDAEFVCER TLKYFLGIAGGKWVVSYFW
Chimpanzee LITEETTH-VVMKTDAEFVCER TLKYFLGIAGGKWVVSYFW
Mouse AITEETTH-VIIKTDAEFVCER TLKYFLGIAGGKWIVSYSW
Rat VITEETTH-VIIKTDAEFVCER TLKYFLGIAGGKWIVSYSW
Bovine LITEETTH-VIMKTDPEFVCER TLKYFLGIAGGKWVVSYFW
Caenorhabditis elegans -VNEHTTHLVMMNSEGRSISQK STAYLYAIARKCVIVGRQW
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
Domain
1642 – 1736
BRCT 1
Alternative sequence
64 – 1863
Missing. In isoform 2.
Mutagenesis
1700 – 1700
T -> A. Strongly reduces affinity for a BRIP1 phosphopeptide.
Mutagenesis
1702 – 1702
K -> M. Abolishes interaction with BRIP1.
Literature citations
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
Coquelle N.; Green R.; Glover J.N.;
Biochemistry 50:4579-4589(2011)
Cited for: X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 1646-1859 IN COMPLEX WITH PHOSPHORYLATED BRIP1 PEPTIDE; INTERACTION WITH BRIP1; MUTAGENESIS OF GLY-1656; THR-1700; ARG-1835 AND GLU-1836; CHARACTERIZATION OF VARIANTS BC GLN-1699 AND TRP-1699;
One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden.
Malander S.; Ridderheim M.; Masbaeck A.; Loman N.; Kristoffersson U.; Olsson H.; Nilbert M.; Borg A.;
Eur. J. Cancer 40:422-428(2004)
Cited for: VARIANTS OVARIAN CANCER GLY-61; THR-1411; ARG-1697 AND TRP-1699;
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
Easton D.F.; Deffenbaugh A.M.; Pruss D.; Frye C.; Wenstrup R.J.; Allen-Brady K.; Tavtigian S.V.; Monteiro A.N.A.; Iversen E.S.; Couch F.J.; Goldgar D.E.;
Am. J. Hum. Genet. 81:873-883(2007)
Cited for: VARIANTS THR-18; MET-1495; GLY-1623; ILE-1685; ALA-1685; ARG-1689; TRP-1699; GLU-1706; GLU-1708; ARG-1715; ARG-1738; PRO-1764; SER-1766 AND VAL-1788;
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;
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
Sawyer S.L.; Tian L.; Kaehkoenen M.; Schwartzentruber J.; Kircher M.; Majewski J.; Dyment D.A.; Innes A.M.; Boycott K.M.; Moreau L.A.; Moilanen J.S.; Greenberg R.A.;
Cancer Discov. 5:135-142(2015)
Cited for: VARIANT FANCS TRP-1699; SUBCELLULAR LOCATION;
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