Sequence information
Variant position: 1837 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:
EDNGFHAIGQMCEAPVVTRE
W VLDSVALYQCQELDTYLIPQ
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 EDNGFHAIGQMCEAPVVTREW VLDSVALYQCQELDTY-LIPQ
Gorilla EDNGFHAIGQMCEAPVVTREW VLDSVALYQCQELDTY-LIP
EDSGFHAIGQMCEAPVVTREW VLDSVALYQCQELDTY-LIP
Rhesus macaque EDNGFHAIGQMCEAPVVTREW VLDSVALYQCQELDTY-LIP
Chimpanzee EDNGFHAIGQMCEAPVVTREW VLDSVALYQCQELDTY-LIP
Mouse EDSNCPDIGQLCKARLVMWDW VLDSLSSYRCRDLDAY-LVQ
Rat EDNDCPDIGQLCKGRLVMWDW VLDSISVYRCRDLDAY-LVQ
Bovine EDAGFHVIGQMCEAPVVTREW VLDSVALYQCQELDTY-LVP
Caenorhabditis elegans ESKN---IENLYKCDVVTMEW VLDSISEYLILPTQPYKAVD
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
1756 – 1855
BRCT 2
Alternative sequence
64 – 1863
Missing. In isoform 2.
Alternative sequence
1778 – 1863
DQLEWMVQLCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY -> GCPPNCGCAARCLDRGQWLPCNWADV. In isoform 6.
Mutagenesis
1835 – 1835
R -> P. Mildly reduces affinity for a BRIP1 phosphopeptide.
Mutagenesis
1836 – 1836
E -> K. Slightly reduces affinity for a BRIP1 phosphopeptide.
Helix
1835 – 1844
Literature citations
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.