Variant position: 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 328 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 AGELLCKVLSYLKLFSMYAP AFMMVVISLDRSLAITRPLAL
Mouse AGEFLCKVLSYLKLFSMYAP AFMMVVISLDRSLAITQPLAV
Rat AGEFLCKVLSYLKLFSMYAP AFMMVVISLDRSLAVTQPLAV
Pig AGEFLCKVLSYLKLFSMYAP AFMMVVISLDRSLAITRPLAV
Bovine AGELLCKVLSYLKLFSMYAP AFMMVVISLDRSLAITKPLAV
Sheep AGELLCKVLSYLKLFSMYAP AFMMVVISLDRSLAITRPLAV
Horse AGELLCKVLSYLKLFSMYAP AFMMVVISLDRSLAITRPLAV
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.
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
Caron P.; Chauvin S.; Christin-Maitre S.; Bennet A.; Lahlou N.; Counis R.; Bouchard P.; Kottler M.-L.;
J. Clin. Endocrinol. Metab. 84:990-996(1999)
Cited for: VARIANTS HH7 ASP-129 AND GLN-262; CHARACTERIZATION OF VARIANT HH7 ASP-129;
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 HH7 SER-18; SER-37; ASP-90; ARG-106; ASP-129; HIS-139; SER-146; GLN-262 AND ARG-266;
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.