Variant position: 1176 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 HPGPIGPPGPRGNRGERGSE GSPGHPGQPGPPGPPGAPGPC
Mouse HPGPIGPPGPRGNRGERGSE GSPGHPGQPGPPGPPGAPGPC
Rat HPGPIGPPGPRGNRGERGSE GSPGHPGQPGPPGPPGAPGPC
Bovine HPGPIGPPGPRGNRGERGSE GSPGHPGQPGPPGPPGAPGPC
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.
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
Nuytinck L.; De Paepe A.; Renard J.P.; Adriaens F.; Leroy J.;
Hum. Mutat. 3:268-274(1994)
Cited for: VARIANT EDSVASC VAL-1176;
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