Variant position: 582 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 RPGPPGPSGPRGQPGVMGFP GPKGNDGAPGKNGERGGPGGP
Mouse RPGPPGPSGPRGQPGVMGFP GPKGNDGAPGKNGERGGPGGP
Rat RPGPPGPSGPRGQPGVMGFP GPKGNDGAPGKNGERGGPGGP
Bovine RPGPPGSPGPRGQPGVMGFP GPKGNDGAPGKNGERGGPGGP
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
563 – 563 4-hydroxyproline
566 – 566 4-hydroxyproline
575 – 575 4-hydroxyproline
581 – 581 4-hydroxyproline
590 – 590 4-hydroxyproline
599 – 599 4-hydroxyproline
602 – 602 4-hydroxyproline
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
Anderson D.W.; Thakker-Varia S.; Tromp G.; Kuivaniemi H.; Stolle C.A.;
Hum. Mutat. 9:62-63(1997)
Cited for: VARIANT EDSVASC SER-582;
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