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UniProtKB/Swiss-Prot P30968: Variant p.Arg139His

Gonadotropin-releasing hormone receptor
Gene: GNRHR
Variant information

Variant position:  139
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Histidine (H) at position 139 (R139H, p.Arg139His).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In HH7; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   YLKLFSMYAPAFMMVVISLD  R SLAITRPLALKSNSKVGQSM
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                         YLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSM

                              YLKLFSMYAPAFMMVVISLDRSLAITRPLAMKNNGKLGQSM

Mouse                         YLKLFSMYAPAFMMVVISLDRSLAITQPLAVQSNSKLEQSM

Rat                           YLKLFSMYAPAFMMVVISLDRSLAVTQPLAVQSKSKLERSM

Pig                           YLKLFSMYAPAFMMVVISLDRSLAITRPLAVKSNSRLGRFM

Bovine                        YLKLFSMYAPAFMMVVISLDRSLAITKPLAVKSNSKLGQFM

Sheep                         YLKLFSMYAPAFMMVVISLDRSLAITRPLAVKSNSKLGQFM

Horse                         YLKLFSMYAPAFMMVVISLDRSLAITRPLAVKSNSKLGRSM

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.

TypePositionsDescription
Chain 1 – 328 Gonadotropin-releasing hormone receptor
Topological domain 138 – 164 Cytoplasmic
Disulfide bond 114 – 196
Helix 111 – 141


Literature citations

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;

Disclaimer: 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.