Variant position: 169 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 SEKRPFVEEAERLRVQHKKD HPDYKYQPRRRKSVKNGQAEA
Rhesus macaque SEKRPFVEEAERLRVQHKKD HPDYKYQPRRRKSVKNGQAEA
Chimpanzee SEKRPFVEEAERLRVQHKKD HPDYKYQPRRRKSVKNGQAEA
Mouse SEKRPFVEEAERLRVQHKKD HPDYKYQPRRRKSVKNGQAEA
Rat SEKRPFVEEAERLRVQHKKD HPDYKYQPRRRKSVKNGQAEA
Pig SEKRPFVEEAERLRVQHKKD HPDYKYQPRRRKSVKNGQAEA
Chicken SEKRPFVEEAERLRVQHKKD HPDYKYQPRRRKSVKNGQSEQ
Xenopus tropicalis GEKRPFVEEAERLRIQHKKD HPDYKYQPRRRKSVKNGQSEQ
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
160 – 273 Disordered
160 – 187 Basic and acidic residues
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
Matsushita M.; Kitoh H.; Kaneko H.; Mishima K.; Kadono I.; Ishiguro N.; Nishimura G.;
Am. J. Med. Genet. A 161A:2528-2534(2013)
Cited for: VARIANT CMD1 GLN-169; CHARACTERIZATION OF VARIANT CMD1 GLN-169; CHARACTERIZATION OF VARIANT PRO-169; FUNCTION;
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.