Variant position: 574 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1464 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 GPPGPAGQDGRPGPPGPPGA RGQAGVMGFPGPKGAAGEPGK
Mouse GPPGPAGQDGRPGPAGPPGA RGQAGVMGFPGPKGTAGEPGK
Rat GPPGPAGQDGRPGPAGPPGA RGQAGVMGFPGPKGTAGEPGK
Bovine GPPGPAGQDGRPGPPGPPGA RGQAGVMGFPGPKGAAGEPGK
Chicken GPPGPAGQDGRPGPAGPPGA RGQAGVMGFPGPKGAAGEPGK
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
162 – 1218 Collagen alpha-1(I) chain
179 – 1192 Triple-helical region
556 – 556 4-hydroxyproline
565 – 565 4-hydroxyproline
571 – 571 4-hydroxyproline
583 – 583 4-hydroxyproline
592 – 592 4-hydroxyproline
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
Malfait F.; Symoens S.; De Backer J.; Hermanns-Le T.; Sakalihasan N.; Lapiere C.M.; Coucke P.; De Paepe A.;
Hum. Mutat. 28:387-395(2007)
Cited for: VARIANT EDSCL1 CYS-312; VARIANTS CYS-574 AND CYS-1093;
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