Variant position: 994 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:
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 YNRSISRTETIIRFAFQASI TVLCIACPCSLGLATPTAVMV
Mouse YNRSISRTETIIRFAFQASI TVLCIACPCSLGLATPTAVMV
Rat YNRSISRTETIIRFAFQASI TVLCIACPCSLGLATPTAVMV
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 – 1500 Copper-transporting ATPase 1
990 – 1011 Helical
975 – 975 N-linked (GlcNAc...) asparagine
42 – 1038 Missing. In isoform 3.
82 – 1499 Missing. In isoform 6.
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Kennerson M.L.; Nicholson G.A.; Kaler S.G.; Kowalski B.; Mercer J.F.B.; Tang J.; Llanos R.M.; Chu S.; Takata R.I.; Speck-Martins C.E.; Baets J.; Almeida-Souza L.; Fischer D.; Timmerman V.; Taylor P.E.; Scherer S.S.; Ferguson T.A.; Bird T.D.; De Jonghe P.; Feely S.M.E.; Shy M.E.; Garbern J.Y.;
Am. J. Hum. Genet. 86:343-352(2010)
Cited for: VARIANTS DSMAX3 ILE-994 AND SER-1386; CHARACTERIZATION OF VARIANTS DSMAX3 ILE-994 AND SER-1386;
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.