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;
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Lee B.H.; Kim J.H.; Lee S.Y.; Jin H.Y.; Kim K.J.; Lee J.J.; Park J.Y.; Kim G.H.; Choi J.H.; Kim K.M.; Yoo H.W.;
Liver Int. 31:831-839(2011)
Cited for: VARIANTS WD ARG-108; VAL-729; GLN-778; LEU-778; TRP-827; VAL-874; ASP-891; 899-ILE--GLN-907 DEL; GLY-919; ASP-943; SER-943; GLN-969; MET-977; LEU-992; THR-1010; ALA-1024; ILE-1029; ALA-1031; VAL-1035; PHE-1083; TYR-1091; ILE-1106; THR-1148; CYS-1151; SER-1168; SER-1186; MET-1216; ALA-1267; SER-1270; LEU-1273 AND ASP-1295; CHARACTERIZATION OF VARIANTS WD TRP-827; THR-1010; CYS-1151 AND ASP-1295;
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
Li K.; Zhang W.M.; Lin S.; Wen L.; Wang Z.F.; Xie D.; Wei M.; Qiu Z.Q.; Dai Y.; Lin M.C.; Kung H.F.; Yao F.X.;
J. Hum. Genet. 58:67-72(2013)
Cited for: VARIANTS WD ASN-44; PHE-157; GLY-606; HIS-732; PRO-732; GLY-756; GLN-778; LEU-778; PHE-795; PRO-874; VAL-874; MET-890; GLY-919; ARG-921; VAL-929; ASP-943; TYR-975; TYR-980; PRO-987; LEU-992; CYS-1151; ALA-1178; GLU-1266; SER-1270 AND LEU-1273;
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;
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