Variant position: 76 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 GEPDLKKESEEDKFPVCIRE AVSQVLKGYDWTLVPMPVRVN
Rhesus macaque GEPDLKKESEEDKFPVCIRE AVSQVLKGYDWTLVPMPVRVN
Chimpanzee GEPDLKKESEEDKFPVCIRE AVSQVLKGYDWTLVPMPVRVN
Mouse GEPDLKKESEEDKFPVCIRE AVSQVLKGYDWTLVPMPVRVN
Rat GEPDLKKESEEDKFPVCIRE AVSQVLKGYDWTLVPMPVRVN
Pig GEPDLKKESEEDKFPVCIRE AVSQVLKGYDWTLVPMPVRVN
Chicken GDPDLKKESDEDKFPVCIRE AVSQVLKGYDWTLVPMPVRVN
Xenopus tropicalis GDPELKKETEDEKFPVCIRE AVSQVLKGYDWTLVPMPVRVN
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
1 – 509 Transcription factor SOX-9
63 – 103 Dimerization (DIM)
63 – 103 PQA
64 – 64 Phosphoserine
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
Sock E.; Pagon R.A.; Keymolen K.; Lissens W.; Wegner M.; Scherer G.;
Hum. Mol. Genet. 12:1439-1447(2003)
Cited for: VARIANT CMD1 GLU-76;
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.