Variant position: 207 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 FDEKAGGAQLGVMQGPMGPM GPRGPPGPAGAPGPQGFQGNP
Mouse YDEKAGGAQMGVMQGPMGPM GPRGPPGPAGAPGPQGFQGNP
Rat FDEKAGGAQMGVMQGPMGPM GPRGPPGPAGAPGPQGFQGNP
Bovine FDEKAGGAQMGVMQGPMGPM GPRGPPGPAGAPGPQGFQGNP
Xenopus laevis FDEKAGGAQMGVMQGPMGPM GPRGPPGPTGAPGPQGFQGNP
Xenopus tropicalis FDEKAGGAQMGVMQGPMGPM GPRGPPGPTGAPGPQGFQGNP
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
190 – 190 5-hydroxylysine
190 – 190 O-linked (Gal...) hydroxylysine
1 – 1219 Missing. In isoform 3.
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
Jurgens J.; Sobreira N.; Modaff P.; Reiser C.A.; Seo S.H.; Seong M.W.; Park S.S.; Kim O.H.; Cho T.J.; Pauli R.M.;
Hum. Mutat. 36:1004-1008(2015)
Cited for: INVOLVEMENT IN SEDSTN; VARIANT SEDSTN ARG-207;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.