Variant position: 1170 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 DQGASGPAGPSGPRGPPGPV GPSGKDGANGIPGPIGPPGPR
Mouse DQGASGPAGPSGPRGPPGPV GPSGKDGSNGIPGPIGPPGPR
Rat DQGTSGPAGPSGPRGPPGPV GPSGKDGSNGIPGPIGPPGPR
Bovine DQGASGPAGPSGPRGPPGPV GPSGKDGANGIPGPIGPPGPR
Xenopus laevis DQGATGPAGPAGPRGPPGPV GPSGKDGSNGISGPIGPPGPR
Xenopus tropicalis DQGASGPAGPGGPRGPPGPV GPSGKDGSNGLPGPIGPPGPR
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 II collagen gene variants and inherited osteonecrosis of the femoral head.
Liu Y.-F.; Chen W.-M.; Lin Y.-F.; Yang R.-C.; Lin M.-W.; Li L.-H.; Chang Y.-H.; Jou Y.-S.; Lin P.-Y.; Su J.-S.; Huang S.-F.; Hsiao K.-J.; Fann C.S.J.; Hwang H.-W.; Chen Y.-T.; Tsai S.-F.;
N. Engl. J. Med. 352:2294-2301(2005)
Cited for: VARIANTS ANFH1 SER-717 AND SER-1170;
A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.
Miyamoto Y.; Matsuda T.; Kitoh H.; Haga N.; Ohashi H.; Nishimura G.; Ikegawa S.;
Hum. Genet. 121:625-629(2007)
Cited for: VARIANT LCPD SER-1170;
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