Variant position: 139 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 YLKLFSMYAPAFMMVVISLD RSLAITRPLALKSNSKVGQSM
Mouse YLKLFSMYAPAFMMVVISLD RSLAITQPLAVQSNSKLEQSM
Rat YLKLFSMYAPAFMMVVISLD RSLAVTQPLAVQSKSKLERSM
Pig YLKLFSMYAPAFMMVVISLD RSLAITRPLAVKSNSRLGRFM
Bovine YLKLFSMYAPAFMMVVISLD RSLAITKPLAVKSNSKLGQFM
Sheep YLKLFSMYAPAFMMVVISLD RSLAITRPLAVKSNSKLGQFM
Horse YLKLFSMYAPAFMMVVISLD RSLAITRPLAVKSNSKLGRSM
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.
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
Costa E.M.F.; Bedecarrats G.Y.; Mendonca B.B.; Arnhold I.J.P.; Kaiser U.B.; Latronico A.C.;
J. Clin. Endocrinol. Metab. 86:2680-2686(2001)
Cited for: VARIANTS HH7 LYS-10; ARG-106 AND HIS-139; CHARACTERIZATION OF VARIANTS HH7 LYS-10; ARG-106 AND HIS-139;
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;
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