Variant position: 629 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 DPEIIGPRDIIHTIESLGFE ASLVKKDRSASHLDHKREIRQ
Mouse DPEIIGPRDIIHTIGSLGFE ASLVKKDRSANHLDHKREIKQ
Rat DPEIIGPRDIIHTIGNLGFE ASLVKKDRSANHLDHKREIKQ
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
1 – 653 Cytoplasmic
565 – 631 HMA 6
42 – 1038 Missing. In isoform 3.
82 – 1499 Missing. In isoform 6.
628 – 633
Identification of point mutations in 41 unrelated patients affected with Menkes disease.
Tuemer Z.; Lund C.; Tolshave J.; Vural B.; Toennesen T.; Horn N.;
Am. J. Hum. Genet. 60:63-71(1997)
Cited for: VARIANTS MNK PRO-629; ARG-727; PRO-1006 AND ASP-1019;
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