Variant position: 7188 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 7388 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 MVRVGGGWMALDEFLVKNDP CRARGRTNIELREKFILPEGA
Mouse MVRVGGGWMALDEFLVKNDP CRARGRTNIELREKFILPEGA
Rat MVRVGGGWMALDEFLVKNDP CRARGRTNIELREKFILPEGA
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.
MACF1 mutations encoding highly conserved zinc-binding residues of the GAR domain cause defects in neuronal migration and axon guidance.
Dobyns W.B.; Aldinger K.A.; Ishak G.E.; Mirzaa G.M.; Timms A.E.; Grout M.E.; Dremmen M.H.G.; Schot R.; Vandervore L.; van Slegtenhorst M.A.; Wilke M.; Kasteleijn E.; Lee A.S.; Barry B.J.; Chao K.R.; Szczaluba K.; Kobori J.; Hanson-Kahn A.; Bernstein J.A.; Carr L.; D'Arco F.; Miyana K.; Okazaki T.; Saito Y.; Sasaki M.; Das S.; Wheeler M.M.; Bamshad M.J.; Nickerson D.A.; Engle E.C.; Verheijen F.W.; Doherty D.; Mancini G.M.S.;
Am. J. Hum. Genet. 103:1009-1021(2018)
Cited for: INVOLVEMENT IN LIS9; VARIANTS LIS9 ARG-6664; PHE-7135; TYR-7186; GLY-7188 AND PHE-7188;
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