Sequence information
Variant position: 64 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:
CKFCMLKLLNQKKGPSQCPL
C KNDITKRSLQESTRFSQLVE
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 CKFCMLKLLNQKKGPSQCPLC KNDITKRSLQESTRFSQLVE
Gorilla CKFCMLKLLNQKKGPSQCPLC KNDITKRSLQESTRFSQLVE
Rhesus macaque CRFCMLKLLNQKKGPSQCPLC KNDITKRSLQESTRFSQLVE
Chimpanzee CKFCMLKLLNQKKGPSQCPLC KNDITKRSLQESTRFSQLVE
Mouse CKFCMLKLLNQKKGPSQCPLC KNEITKRSLQGSTRFSQLAE
Rat CKFCMLKLLNQKKGPSQCPLC KNEITKRSLQGSARFSQLVE
Bovine CKFCMLKLLNQKKGPSQCPLC KNDITKRSLQESTRFSQLVE
Caenorhabditis elegans CRSCINACFERKR-KVQCPIC RSVLDKRSCRDTYQITMAVQ
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
Zinc finger
24 – 65
RING-type
Alternative sequence
64 – 1863
Missing. In isoform 2.
Mutagenesis
71 – 71
R -> G. No effect on interaction with BAP1.
Beta strand
62 – 64
Literature citations
BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression.
Jensen D.E.; Proctor M.; Marquis S.T.; Gardner H.P.; Ha S.I.; Chodosh L.A.; Ishov A.M.; Tommerup N.; Vissing H.; Sekido Y.; Minna J.; Borodovsky A.; Schultz D.C.; Wilkinson K.D.; Maul G.G.; Barlev N.; Berger S.; Prendergast G.C.; Rauscher F.J. III;
Oncogene 16:1097-1112(1998)
Cited for: INTERACTION WITH BAP1; SUBCELLULAR LOCATION; VARIANTS GLY-61 AND GLY-64; MUTAGENESIS OF ARG-71;
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
Castilla L.H.; Couch F.J.; Erdos M.R.; Hoskins K.F.; Calzone K.; Garber J.E.; Boyd J.; Lubin M.B.; Deshano M.L.; Brody L.C.; Collins F.S.; Weber B.L.;
Nat. Genet. 8:387-391(1994)
Cited for: VARIANT BC GLY-64; VARIANTS ALA-772; ASN-1040 AND GLY-1443;
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.
Andersen T.I.; Eiken H.G.; Couch F.; Kaada G.; Skrede M.; Johnsen H.; Aloysius T.A.; Tveit K.M.; Tranebjaerg L.; Doerum A.; Moeller P.; Weber B.L.; Boerresen-Dale A.-L.;
Hum. Mutat. 11:166-174(1998)
Cited for: VARIANT BC GLY-64; VARIANTS ALA-772; GLU-820; ASN-1040; GLY-1443; ILE-1512; LEU-1637 AND ILE-1652;
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.