Variant position: 726 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1466 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 GKGAAGPPGPPGAAGTPGLQ GMPGERGGLGSPGPKGDKGEP
Mouse GKGPAGPPGPPGASGSPGLQ GMPGERGGPGSPGPKGEKGEP
Rat GKGPAGPPGPPGTSGPPGLQ GMPGERGGPGSPGPKGEKGEP
Bovine GKGAAGPPGPPGSAGTPGLQ GMPGERGGPGGPGPKGDKGEP
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
154 – 1221 Collagen alpha-1(III) chain
168 – 1196 Triple-helical region
713 – 713 4-hydroxyproline
716 – 716 4-hydroxyproline
722 – 722 4-hydroxyproline
728 – 728 4-hydroxyproline
737 – 737 4-hydroxyproline
746 – 746 4-hydroxyproline
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-726;
A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
Bateman J.F.; Chiodo A.A.; Weng Y.M.; Chan D.; Haan E.;
Hum. Mutat. Suppl. 1:S257-S259(1998)
Cited for: VARIANT EDSVASC ARG-726;
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