Variant position: 567 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 SDGKPGPPGSQGESGRPGPP GPSGPRGQPGVMGFPGPKGND
Mouse NDGKPGPPGSQGESGRPGPP GPSGPRGQPGVMGFPGPKGND
Rat NDGKPGPPGSQGESGRPGPP GPSGPRGQPGVMGFPGPKGND
Bovine SNGKPGPPGSQGETGRPGPP GSPGPRGQPGVMGFPGPKGND
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
551 – 551 4-hydroxyproline
554 – 554 4-hydroxyproline
563 – 563 4-hydroxyproline
566 – 566 4-hydroxyproline
575 – 575 4-hydroxyproline
581 – 581 4-hydroxyproline
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.
Mackay K.; Raghunath M.; Superti-Furga A.; Steinmann B.; Dalgleish R.;
Clin. Genet. 49:286-295(1996)
Cited for: VARIANTS EDSVASC GLU-567; CYS-762 AND ASP-1170;
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