UniProtKB/Swiss-Prot P35670: Variant p.Gly1186Ser

Copper-transporting ATPase 2
Gene: ATP7B
Chromosomal location: 13q14.3
Variant information

Variant position:  1186
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Serine (S) at position 1186 (G1186S, p.Gly1186Ser).
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 glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In WD; possibly not disease-causing.
Any additional useful information about the variant.



Sequence information

Variant position:  1186
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1465
The length of the canonical sequence.

Location on the sequence:   SDAMTDHEMKGQTAILVAID  G VLCGMIAIADAVKQEAALAV
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                         SDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAV

Mouse                         SDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKPEAALAI

Rat                           SDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKPEAALAS

Sheep                         RDAMTDHETKGQTAILVAIDGVLCGMIAVADSVKQEAALAV

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.

TypePositionsDescription
Chain 1 – 1465 Copper-transporting ATPase 2
Topological domain 995 – 1322 Cytoplasmic


Literature citations

Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
Yamaguchi A.; Matsuura A.; Arashima S.; Kikuchi Y.; Kikuchi K.;
Hum. Mutat. Suppl. 1:S320-S322(1998)
Cited for: VARIANTS WD LEU-778; VAL-874; GLY-919; SER-1186; ALA-1267 AND SER-1270;

Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
Shimizu N.; Nakazono H.; Takeshita Y.; Ikeda C.; Fujii H.; Watanabe A.; Yamaguchi Y.; Hemmi H.; Shimatake H.; Aoki T.;
Pediatr. Int. 41:409-413(1999)
Cited for: VARIANTS WD LEU-778; VAL-874; GLY-919; ILE-1029; VAL-1035; SER-1186 AND ASN-1222;

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Okada T.; Shiono Y.; Hayashi H.; Satoh H.; Sawada T.; Suzuki A.; Takeda Y.; Yano M.; Michitaka K.; Onji M.; Mabuchi H.;
Hum. Mutat. 15:454-462(2000)
Cited for: VARIANTS WD ILE-769; LEU-778; TRP-778; VAL-874; GLY-919; THR-1003; PHE-1083; SER-1186; ALA-1267; SER-1270; THR-1336 AND PRO-1373; VARIANTS ALA-406; LEU-456 AND ALA-1140;

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
Vrabelova S.; Letocha O.; Borsky M.; Kozak L.;
Mol. Genet. Metab. 86:277-285(2005)
Cited for: VARIANTS WD SER-641; SER-710; ARG-737; GLY-778; GLU-918; GLN-969; MET-977; VAL-1018; SER-1033; TRP-1041; VAL-1063; LYS-1064; GLN-1069; THR-1102; ASP-1111; THR-1148; ARG-1176; SER-1186; ASN-1271; LEU-1273; PRO-1305; ASP-1341 AND CYS-1355; VARIANTS LEU-456; ARG-832 AND ALA-1140;

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
Hsi G.; Cullen L.M.; Macintyre G.; Chen M.M.; Glerum D.M.; Cox D.W.;
Hum. Mutat. 29:491-501(2008)
Cited for: CHARACTERIZATION OF VARIANTS WD HIS-532; ALA-626; HIS-642; TRP-1041; LYS-1064; PHE-1083; ASP-1106; ALA-1140; VAL-1169; THR-1183 AND SER-1186;

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.