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UniProtKB/Swiss-Prot P10912: Variant p.Pro149Gln

Growth hormone receptor
Gene: GHR
Variant information

Variant position:  149
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 Proline (P) to Glutamine (Q) at position 149 (P149Q, p.Pro149Gln).
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 medium size and hydrophobic (P) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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 LARS; disrupts GH binding.
Any additional useful information about the variant.

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



Sequence information

Variant position:  149
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  638
The length of the canonical sequence.

Location on the sequence:   LTSNGGTVDEKCFSVDEIVQ  P DPPIALNWTLLNVSLTGIHA
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                         LTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVSLTGIHA

                              LTSNGGIVDHKCFSVEDIVQPDPPVGLNWTLLNISLTEIHA

                              LTSNGGTVDQKCFSVEEIVQPDPPIGLNWTLLNISLTGIHA

Rhesus macaque                LTSNGDTVDGKCFSVDEIVQPDPPIALNWTLLNVSLTGIHA

Mouse                         LTTNGDLLDQKCFTVDEIVQPDPPIGLNWTLLNISLTGIRG

Rat                           LTTNGDLLDEKCFTVDEIVQPDPPIGLNWTLLNISLPGIRG

Pig                           LTSNGGTVDQKCFSVEEIVQPDPPIGLNWTLLNISLTGIHA

Bovine                        LTSNGGIVDHKCFSVEDIVQPDPPVGLNWTLLNISLTEIHA

Rabbit                        LTNNGGMVDQKCFSVEEIVQPDPPIGLNWTLLNVSLTGIHA

Sheep                         LTSNGGIVDHKCFSVEDIVQPDPPVGLNWTLLNISLTEIHA

Chicken                       LANKDEVFDEKCFSVDEIVLPDPPVHLNWTLLNTSQTGIHG

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 19 – 638 Growth hormone receptor
Chain 19 – 256 Growth hormone-binding protein
Topological domain 19 – 264 Extracellular
Glycosylation 156 – 156 N-linked (GlcNAc...) asparagine
Glycosylation 161 – 161 N-linked (GlcNAc...) asparagine


Literature citations

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.
Amselem S.; Duquesnoy P.; Duriez B.; Dastot F.; Sobrier M.-L.; Valleix S.; Goossens M.;
Hum. Mol. Genet. 2:355-359(1993)
Cited for: VARIANTS LARS LYS-89; GLN-149; ASP-162; CYS-179 AND GLY-229;

A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analogue.
Walker J.L.; Crock P.A.; Behncken S.N.; Rowlinson S.W.; Nicholson L.M.; Boulton T.J.C.; Waters M.J.;
J. Clin. Endocrinol. Metab. 83:2554-2561(1998)
Cited for: VARIANT LARS GLN-149; CHARACTERIZATION OF VARIANT LARS GLN-149;

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.