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:
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 PILTTSVPVYSLKVDKEYEV RVRSKQRNSGNYGEFSEVLYV
Rhesus macaque PILSTSVPVYSLKVDKEYEV LVRSKRRNSRNYGEFSEVLYV
Mouse PIWLTYCPVYSLRMDKEHEV RVRSRQRSFEKYSEFSEVLRV
Rat PIWSTSVPLYSLRLDKEHEV RVRSRQRSFEKYSEFSEVLRV
Pig PVLSTSVPVYSLRLDKEYEV RVRSRQRNSEKYGEFSEVLYV
Bovine PLMVTSVPMYSLRLDKEYEV RVRTRQRNTEKYGKFSEVLLI
Rabbit PVLSTSVPVYSLRLDKEYEV RVRSRQRSSEKYGEFSEVLYV
Sheep PLLVTSVPMYSLRLDKEYEV RVRTRQRNTEKYGKFSEVLLI
Chicken PRLSTVVPLYSLKMGRDYEI RVRSRQRTSEKFGEFSEILYV
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
19 – 638 Growth hormone receptor
19 – 256 Growth hormone-binding protein
19 – 264 Extracellular
151 – 254 Fibronectin type-III
226 – 234
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;
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.