Variant position: 749 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1669 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 GQKGEPGVGLPGLKGLPGLP GIPGTPGEKGSIGVPGVPGEH
Mouse GQKGEPGIGLPGLKGQPGLP GIPGTPGEKGSIGGPGVPGEQ
Bovine GQKGEPGVGLPGLKGLPGIP GIPGTPGEKGNVGGPGIPGEH
Caenorhabditis elegans GAPGETGFGFPGQVGYPGPN GDAGAAGLPGPDGYPGRDGLP
Drosophila GPRGEPGISRPGPMGPPGLN GLQGEKGDRGPTGPIGFPGAD
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
173 – 1669 Collagen alpha-1(IV) chain
173 – 1440 Triple-helical region
520 – 1669 Missing. In isoform 2.
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
Gould D.B.; Phalan F.C.; Breedveld G.J.; van Mil S.E.; Smith R.S.; Schimenti J.C.; Aguglia U.; van der Knaap M.S.; Heutink P.; John S.W.M.;
Cited for: VARIANTS POREN1 SER-749 AND ARG-1236;
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