Variant position: 1176 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 PAGPSGPRGPPGPVGPSGKD GANGIPGPIGPPGPRGRSGET
Mouse PAGPSGPRGPPGPVGPSGKD GSNGIPGPIGPPGPRGRSGET
Rat PAGPSGPRGPPGPVGPSGKD GSNGIPGPIGPPGPRGRSGET
Bovine PAGPSGPRGPPGPVGPSGKD GANGIPGPIGPPGPRGRSGET
Xenopus laevis PAGPAGPRGPPGPVGPSGKD GSNGISGPIGPPGPRGRSGET
Xenopus tropicalis PAGPGGPRGPPGPVGPSGKD GSNGLPGPIGPPGPRGRGGET
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.
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson G.C.; Mittaz-Crettol L.; Taylor J.A.; Mortier G.R.; Spranger J.; Zabel B.; Le Merrer M.; Cormier-Daire V.; Hall C.M.; Offiah A.; Wright M.J.; Savarirayan R.; Nishimura G.; Ramsden S.C.; Elles R.; Bonafe L.; Superti-Furga A.; Unger S.; Zankl A.; Briggs M.D.;
Hum. Mutat. 33:144-157(2012)
Cited for: VARIANTS VAL-1176 AND ARG-1179;
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