Variant position: 354 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1487 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 RTGPAGAAGARGNDGQPGPA GPPGPVGPAGGPGFPGAPGAK
Mouse RTGPAGAAGARGNDGQPGPA GPPGPVGPAGGPGFPGAPGAK
Rat RTGPAGAAGARGNDGQPGPA GPPGPVGPAGGPGFLGAPGAK
Bovine RTGPAGAAGARGNDGQPGPA GPPGPVGPAGGPGFPGAPGAK
Xenopus laevis RPGSSGAAGARGNDGLPGPA GPPGPVGPAGAPGFPGAPGSK
Xenopus tropicalis RPGASGAAGARGNDGLPGPA GPPGPVGPAGAPGFPGAPGSK
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
182 – 1241 Collagen alpha-1(II) chain
97 – 1237 Disordered
201 – 1214 Triple-helical region
351 – 365 Pro residues
374 – 374 5-hydroxylysine
374 – 374 O-linked (Gal...) hydroxylysine
1 – 1219 Missing. In isoform 3.
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
Vikkula M.; Ritvaniemi P.; Vuorio A.F.; Kaitila I.; Ala-Kokko L.; Peltonen L.;
Cited for: VARIANT SPONDYLOMETAPHYSEAL DYSPLASIA ARG-354;
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