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UniProtKB/Swiss-Prot Q04656: Variant p.Asp1044Gly

Copper-transporting ATPase 1
Gene: ATP7A
Variant information

Variant position:  1044
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 Aspartate (D) to Glycine (G) at position 1044 (D1044G, p.Asp1044Gly).
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 acidic (D) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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 MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity.
Any additional useful information about the variant.



Sequence information

Variant position:  1044
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1500
The length of the canonical sequence.

Location on the sequence:   ILIKGGEPLEMAHKVKVVVF  D KTGTITHGTPVVNQVKVLTE
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                         ILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLTE

Mouse                         ILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLVE

Rat                           ILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLVE

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 – 1500 Copper-transporting ATPase 1
Topological domain 1012 – 1356 Cytoplasmic
Active site 1044 – 1044 4-aspartylphosphate intermediate
Alternative sequence 82 – 1499 Missing. In isoform 6.
Mutagenesis 1044 – 1044 D -> E. Impairs tyrosinase activity involved in melanin synthesis.


Literature citations

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Moeller L.B.; Bukrinsky J.T.; Moelgaard A.; Paulsen M.; Lund C.; Tuemer Z.; Larsen S.; Horn N.;
Hum. Mutat. 26:84-93(2005)
Cited for: VARIANTS MNK HIS-844; ARG-853; VAL-860; ARG-876; GLU-876; ARG-924; ARG-1000; VAL-1007; ASP-1015; GLY-1044; PRO-1100; GLU-1282; GLU-1300; VAL-1302; LYS-1304; ALA-1305; ARG-1315; VAL-1325; ARG-1369 AND PHE-1397;

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjoerringe T.; Amstrup Pedersen P.; Salling Thorborg S.; Nissen P.; Gourdon P.; Birk Moeller L.;
Sci. Rep. 7:757-757(2017)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS MNK VAL-628; ARG-633; TYR-653; ARG-666; ARG-727; ASP-728; PRO-761; ASN-802; HIS-844; VAL-860; ARG-876; GLU-876; ARG-1000; ARG-1005; VAL-1007; ASP-1015; ASN-1037; GLY-1044; ARG-1255; GLU-1282; GLU-1300; GLY-1301; GLU-1302; VAL-1302; LYS-1304; ALA-1305; GLY-1305; ASP-1308; ARG-1315; VAL-1325; VAL-1362; ARG-1369; PRO-1373; THR-1393 AND PHE-1397; CHARACTERIZATION OF VARIANT OHS ARG-924;

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.