UniProtKB/Swiss-Prot P38398: Variant p.Cys61Gly

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

61 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LP/P [Disclaimer] 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 Cysteine (C) to Glycine (G) at position 61 (C61G, p.Cys61Gly). 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:

Change from medium size and polar (C) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

In BC and ovarian cancer; no interaction with BAP1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28897672 [ dbSNP | Ensembl ]

Sequence information Variant position:

61 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:

HIFCKFCMLKLLNQKKGPSQ C PLCKNDITKRSLQESTRFSQ 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                         HIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQ

Gorilla                       HIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQ

                              HIFCKFCMLKLLNQRKGPSQCPLCKNDITKRSLQESTRFSQ

Rhesus macaque                HIFCRFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQ

Chimpanzee                    HIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQ

Mouse                         HIFCKFCMLKLLNQKKGPSQCPLCKNEITKRSLQGSTRFSQ

Rat                           HIFCKFCMLKLLNQKKGPSQCPLCKNEITKRSLQGSARFSQ

Bovine                        HIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQ

Caenorhabditis elegans        HIFCRSCINACFERKR-KVQCPICRSVLDKRSCRDTYQITM

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
Mutagenesis	71 – 71	R -> G. No effect on interaction with BAP1.

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; 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; A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.
Serova O.; Montagna M.; Torchard D.; Narod S.A.; Tonin P.; Sylla B.; Lynch H.T.; Feunteun J.; Lenoir G.M.;
Am. J. Hum. Genet. 58:42-51(1996)
Cited for: VARIANT BC GLY-61; A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.
Dong J.; Chang-Claude J.; Wu Y.; Schumacher V.; Debatin I.; Tonin P.; Royer-Pokora B.;
Hum. Genet. 103:154-161(1998)
Cited for: VARIANT BC GLY-61; VARIANTS ARG-239; TRP-841 AND ILE-1512; Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
Meyer P.; Voigtlaender T.; Bartram C.R.; Klaes R.;
Hum. Mutat. 22:259-259(2003)
Cited for: VARIANTS BC GLY-61; LYS-71; GLN-866; TYR-888; ILE-1139; GLY-1210 AND PRO-1297; VARIANTS BROVCA1 TYR-835 AND PRO-1786; 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 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.