Variant position: 135 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 466 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 AQAARRKLADQYPHLHNAEL SKTLGKLWRLLNESDKRPFIE
Mouse AQAARRKLADQYPHLHNAEL SKTLGKLWRLLNESDKRPFIE
Rat AQAARRKLADQYPHLHNAEL SKTLGKLWRLLNESDKRPFIE
Pig AQAARRKLADQYPHLHNAEL SKTLGKLWRLLNESDKRPFIE
Chicken AQAARRKLADQYPHLHNAEL SKTLGKLWRLLNESDKRPFIE
Xenopus laevis AQAARRKLADQYPHLHNAEL SKTLGKLWRLLNENDKRPFIE
Xenopus tropicalis AQAARRKLADQYPHLHNAEL SKTLGKLWRLLNENDKRPFIE
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 – 466 Transcription factor SOX-10
104 – 172 HMG box
134 – 145 Nuclear export signal
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Marcos S.; Sarfati J.; Leroy C.; Fouveaut C.; Parent P.; Metz C.; Wolczynski S.; Gerard M.; Bieth E.; Kurtz F.; Verier-Mine O.; Perrin L.; Archambeaud F.; Cabrol S.; Rodien P.; Hove H.; Prescott T.; Lacombe D.; Christin-Maitre S.; Touraine P.; Hieronimus S.; Dewailly D.; Young J.; Pugeat M.; Hardelin J.P.; Dode C.;
J. Clin. Endocrinol. Metab. 99:E2138-2143(2014)
Cited for: VARIANTS THR-108; VAL-111; GLY-135; CYS-151 AND CYS-161;
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.