UniProtKB/Swiss-Prot P10912: Variant p.Arg229His

Growth hormone receptor
Gene: GHR
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Variant information Variant position:

229 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 229 (R229H, p.Arg229His). 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:

Found in a patient with idiopathic short stature; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs6177 [ dbSNP | Ensembl ]

Sequence information Variant position:

229 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:

PILTTSVPVYSLKVDKEYEV R VRSKQRNSGNYGEFSEVLYV 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                         PILTTSVPVYSLKVDKEYEVRVRSKQRNSGNYGEFSEVLYV

                              PLMVTSVPMYSLRLDKEYEVRVRTRQRNTEKYGKFSEVLLI

                              PVSATSVPVYSLRLDKEYEVRVRSRQRNSEKYGEFSEALYV

Rhesus macaque                PILSTSVPVYSLKVDKEYEVLVRSKRRNSRNYGEFSEVLYV

Mouse                         PIWLTYCPVYSLRMDKEHEVRVRSRQRSFEKYSEFSEVLRV

Rat                           PIWSTSVPLYSLRLDKEHEVRVRSRQRSFEKYSEFSEVLRV

Pig                           PVLSTSVPVYSLRLDKEYEVRVRSRQRNSEKYGEFSEVLYV

Bovine                        PLMVTSVPMYSLRLDKEYEVRVRTRQRNTEKYGKFSEVLLI

Rabbit                        PVLSTSVPVYSLRLDKEYEVRVRSRQRSSEKYGEFSEVLYV

Sheep                         PLLVTSVPMYSLRLDKEYEVRVRTRQRNTEKYGKFSEVLLI

Chicken                       PRLSTVVPLYSLKMGRDYEIRVRSRQRTSEKFGEFSEILYV

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.

Type	Positions	Description
Chain	19 – 638	Growth hormone receptor
Chain	19 – 256	Growth hormone-binding protein
Topological domain	19 – 264	Extracellular
Domain	151 – 254	Fibronectin type-III
Beta strand	226 – 234

Literature citations
Mutations of the growth hormone receptor in children with idiopathic short stature.
Goddard A.D.; Covello R.; Luoh S.-M.; Clackson T.; Attie K.M.; Gesundheit N.; Rundle A.C.; Wells J.A.; Carlsson L.M.S.;
N. Engl. J. Med. 333:1093-1098(1995)
Cited for: VARIANTS GHIP LYS-62 AND CYS-179; VARIANTS HIS-229 AND ASP-242; 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.