Variant position: 1304 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 AKVKQLQEEGKRVAMVGDGI NDSPALAMANVGIAIGTGTDV
Mouse AKVKQLQEEGKRVAMVGDGI NDSPALAMANVGIAIGTGTDV
Rat AKVKQLQEEGKRVAMVGDGI NDSPALAMASVGIAIGTGTDV
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.
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
Vonk W.I.; de Bie P.; Wichers C.G.; van den Berghe P.V.; van der Plaats R.; Berger R.; Wijmenga C.; Klomp L.W.; van de Sluis B.;
Cell. Mol. Life Sci. 69:149-163(2012)
Cited for: INTERACTION WITH ATOX1 AND COMMD1; CHARACTERIZATION OF VARIANT OHS SER-1304; CHARACTERIZATION OF VARIANTS MNKD ARG-873; ARG-1000 AND ASP-1362;
Functional copper transport explains neurologic sparing in occipital horn syndrome.
Tang J.; Robertson S.; Lem K.E.; Godwin S.C.; Kaler S.G.;
Genet. Med. 8:711-718(2006)
Cited for: VARIANT OHS SER-1304; CHARACTERIZATION OF VARIANT OHS SER-1304;
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.