Variant position: 778 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:
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 RSPVTFFDTPPMLFVFIALG RWLEHLAKSKTSEALAKLMSL
Mouse KSPVTFFDTPPMLFVFIALG RWLEHVAKSKTSEALAKLMSL
Rat KSPVTFFDTPPMLFVFIALG RWLEHVAKSKTSEALAKLMSL
Sheep RSPVTFFDTPPMLFVFIALG RWLEHVVKSKTSEALARLMSL
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
1 – 1465 Copper-transporting ATPase 2
765 – 785 Helical
624 – 785 Missing. In isoform 2.
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
Forbes J.R.; Cox D.W.;
Am. J. Hum. Genet. 63:1663-1674(1998)
Cited for: CHARACTERIZATION OF VARIANTS WD ASN-765; VAL-769; LEU-778; GLN-778; SER-943; MET-977 AND LEU-992; CHARACTERIZATION OF VARIANTS VAL-776 AND ALA-995;
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
Chuang L.-M.; Wu H.-P.; Jang M.-H.; Wang T.-R.; Sue W.-C.; Lin B.J.; Cox D.W.; Tai T.-Y.;
J. Med. Genet. 33:521-523(1996)
Cited for: VARIANTS WD GLN-778 AND LEU-778;
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
Kim E.K.; Yoo O.J.; Song K.Y.; Yoo H.W.; Choi S.Y.; Cho S.W.; Hahn S.H.;
Hum. Mutat. 11:275-278(1998)
Cited for: VARIANTS WD LEU-778; VAL-874 AND PHE-1083; VARIANTS ARG-832; ILE-864; MET-1109 AND ALA-1140;
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;
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
Kusuda Y.; Hamaguchi K.; Mori T.; Shin R.; Seike M.; Sakata T.;
J. Hum. Genet. 45:86-91(2000)
Cited for: VARIANTS WD LEU-778; VAL-874 AND VAL-1297 DEL; VARIANTS LEU-290; ALA-406; LEU-456; ARG-832; ALA-1140 AND GLU-1407;
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
Genet. Med. 4:43S-48S(2002)
Cited for: VARIANTS WD HIS-768; LEU-778; VAL-874; PHE-1083; SER-1168; ILE-1255; ALA-1267 AND SER-1270;
Two families with Wilson disease in which siblings showed different phenotypes.
Takeshita Y.; Shimizu N.; Yamaguchi Y.; Nakazono H.; Saitou M.; Fujikawa Y.; Aoki T.;
J. Hum. Genet. 47:543-547(2002)
Cited for: VARIANTS WD LEU-778; VAL-874 AND GLY-919;
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu Y.-H.; Kodama H.; Du S.-L.; Gu Q.-J.; Sun H.-J.; Ushijima H.;
Clin. Genet. 64:479-484(2003)
Cited for: VARIANTS WD VAL-85; GLY-765; LEU-778; MET-890; GLY-919; MET-935; TYR-975; LEU-992; ARG-1098; THR-1148; LYS-1173 AND ASN-1248; VARIANTS ASP-14; ALA-406; LEU-456; ARG-832; ALA-1140; ASN-1143 AND SER-1245;
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
Liu X.-Q.; Zhang Y.-F.; Liu T.-T.; Hsiao K.-J.; Zhang J.-M.; Gu X.-F.; Bao K.-R.; Yu L.-H.; Wang M.-X.;
World J. Gastroenterol. 10:590-593(2004)
Cited for: VARIANTS WD LEU-778; ASP-943; ILE-1106 AND MET-1216; VARIANT ALA-1140;
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