Variant position: 113 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 509 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 VRVNGSSKNKPHVKRPMNAF MVWAQAARRKLADQYPHLHNA
Rhesus macaque VRVNGSSKNKPHVKRPMNAF MVWAQAARRKLADQYPHLHNA
Chimpanzee VRVNGSSKNKPHVKRPMNAF MVWAQAARRKLGDQYPHLHNA
Mouse VRVNGSSKNKPHVKRPMNAF MVWAQAARRKLADQYPHLHNA
Pig VRVNGSSKNKPHVKRPMNAF MVWAQAARRKLADQYPHLHNA
Chicken VRVNGSSKNKPHVKRPMNAF MVWAQAARRKLADQYPHLHNA
Xenopus tropicalis VRVNGSSKSKPHVKRPMNAF MVWAQAARRKLADQYPHLHNA
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.
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
Staffler A.; Hammel M.; Wahlbuhl M.; Bidlingmaier C.; Flemmer A.W.; Pagel P.; Nicolai T.; Wegner M.; Holzinger A.;
Hum. Mutat. 31:E1436-E1444(2010)
Cited for: VARIANTS CMD1 VAL-113 AND GLN-165; CHARACTERIZATION OF VARIANTS CMD1 VAL-113 AND GLN-165;
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.