Variant position: 1280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1990 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 VKEAAQRYQYALKKFPREGF GEDLKTFRELKVSLLLNLSRC
Mouse VKEAAQRYQYALKKFPREGF GEDLKTFRELKVSLLLNLSRC
Rat VKEAAQRYQYALKKFPREGF GEDLKTFRELKVSLLLNLSRC
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 – 1990 Protein TANC2
972 – 1990 Missing. In isoform 3.
1011 – 1990 Missing. In isoform 4.
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J.; Williamson K.A.; Soares D.C.; Truch J.; Kurian D.; Gillessen-Kaesbach G.; Seawright A.; Prendergast J.; Halachev M.; Wheeler A.; McTeir L.; Gill A.C.; van Heyningen V.; Davey M.G.; FitzPatrick D.R.;
Hum. Mutat. 38:942-946(2017)
Cited for: VARIANT VAL-1280;
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