Variant position: 173 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 PFVEEAERLRVQHKKDHPDY KYQPRRRKSVKNGQAEAEEAT
Rhesus macaque PFVEEAERLRVQHKKDHPDY KYQPRRRKSVKNGQAEAEEAT
Chimpanzee PFVEEAERLRVQHKKDHPDY KYQPRRRKSVKNGQAEAEEAT
Mouse PFVEEAERLRVQHKKDHPDY KYQPRRRKSVKNGQAEAEEAT
Pig PFVEEAERLRVQHKKDHPDY KYQPRRRKSVKNGQAEAEEAT
Chicken PFVEEAERLRVQHKKDHPDY KYQPRRRKSVKNGQSEQEEGS
Xenopus tropicalis PFVEEAERLRIQHKKDHPDY KYQPRRRKSVKNGQSEQEDGA
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
105 – 173 HMG box
Acampomelic campomelic dysplasia with SOX9 mutation.
Thong M.-K.; Scherer G.; Kozlowski K.; Haan E.; Morris L.;
Am. J. Med. Genet. 93:421-425(2000)
Cited for: VARIANT CMD1 GLU-173;
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.