Variant position: 112 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 PVRVNGSSKNKPHVKRPMNA FMVWAQAARRKLADQYPHLHN
Rhesus macaque PVRVNGSSKNKPHVKRPMNA FMVWAQAARRKLADQYPHLHN
Chimpanzee PVRVNGSSKNKPHVKRPMNA FMVWAQAARRKLGDQYPHLHN
Mouse PVRVNGSSKNKPHVKRPMNA FMVWAQAARRKLADQYPHLHN
Rat PVRVNGSSKNKPHVKRPMNA FMVWAQAARRKLADQYPHLHN
Pig PVRVNGSSKNKPHVKRPMNA FMVWAQAARRKLADQYPHLHN
Chicken PVRVNGSSKNKPHVKRPMNA FMVWAQAARRKLADQYPHLHN
Xenopus tropicalis PVRVNGSSKSKPHVKRPMNA FMVWAQAARRKLADQYPHLHN
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.
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
Goji K.; Nishijima E.; Tsugawa C.; Nishio H.; Pokharel R.K.; Matsuo M.;
Hum. Mutat. Suppl. 1:S114-S116(1998)
Cited for: VARIANT CMD1 SER-112;
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