Variant position: 1580 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 VHSQTIQIPPCPSGWSSLWI GYSFVMHTSAGAEGSGQALAS
Mouse VHSQTIQIPQCPNGWSSLWI GYSFVMHTSAGAEGSGQALAS
Bovine VHSQTIQIPQCPTGWSSLWI GYSFVMHTSAGAEGSGQALAS
Caenorhabditis elegans VHSQDTSVPQCPQGWSGMWT GYSFVMHTAAGAEGTGQSLQS
Drosophila VHSQTIEVPDCPNGWEGLWI GYSFLMHTAVGNGGGGQALQS
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.
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
de Vries L.S.; Koopman C.; Groenendaal F.; Van Schooneveld M.; Verheijen F.W.; Verbeek E.; Witkamp T.D.; van der Worp H.B.; Mancini G.;
Ann. Neurol. 65:12-18(2009)
Cited for: VARIANT BSVD1 ARG-1580;
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