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UniProtKB/Swiss-Prot P10912: Variant p.Pro495Thr

Growth hormone receptor
Gene: GHR
Variant information

Variant position:  495
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Threonine (T) at position 495 (P495T, p.Pro495Thr).
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 (T)
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

Polymorphism:  Genetic variation in GHR may act as phenotype modifier in familial hypercholesterolemia [MIM:143890] patients carrying a mutation in the LDLR gene.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  495
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:   LSNPSSLSNIDFYAQVSDIT  P AGSVVLSPGQKNKAGMSQCD
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                         LSNPSSLSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCD

                              LSNPSSLANIDFYAQVSDITPAGNVVLSPGQKNKTGNPQCD

                              LSNPSSLANIDFYAQVSDITLAGSVVLSPGQKNKAGISPCD

Rhesus macaque                LSNPSSLANIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCD

Mouse                         MSNPTSLANIDFYAQVSDITPAGGDVLSPGQKIKAGIAQGN

Rat                           MSSPVSLANIDFYAQVSDITPAGGVVLSPGQKIKAGLAQGN

Pig                           LSNPSSLANIDFYAQVSDITPAGSVVLSPGQKNKAGISQCD

Bovine                        LSNPSSLANIDFYAQVSDITPAGNVVLSPGQKNKTGNPQCD

Rabbit                        LSNPNSLANIDFYAQVSDITPAGSVVLSPGQKNKAGNSQCD

Sheep                         LSNPSSLANIDFYAQVSDITPAGNVVLSPGQKNKTGNPQCD

Chicken                       LSNQNSLTNTDFYAQVSDITPAGSVVLSPGQKSKVGRAQCE

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
Topological domain 289 – 638 Cytoplasmic
Alternative sequence 295 – 638 Missing. In isoform 3.
Alternative sequence 298 – 638 Missing. In isoform 2.


Literature citations

Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS HIS-179; HIS-229; PHE-440; THR-495; LEU-544 AND THR-579;

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.