Variant position: 114 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 WTQEWKECPDYVSAGENSCY FNSSFTSIWIPYCIKLTSNGG
Rhesus macaque QTQEWKECPDYVSAGENSCY FNSSFTSVWIPYCIKLTSNGD
Mouse WTQEWKECPDYVSAGKNSCY FNSSYTSIWIPYCIKLTTNGD
Rat WTPEWKECPDYVSAGANSCY FNSSYTSIWIPYCIKLTTNGD
Pig WTQEWKECPDYVSAGENSCY FNSSYTSIWIPYCIKLTSNGG
Bovine -IQEWKECPDYVSAGENSCY FNSSYTSVWTPYCIKLTSNGG
Rabbit WTQEWKECPDYVSAGENSCY FNSSYTSIWIPYCIKLTNNGG
Sheep -IQEWKECPDYVSAGENSCY FNSSYTSVWTPYCIKLTSNGG
Chicken -DEDWKECPDYITAGENSCY FNTSYTSIWIPYCVKLANKDE
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
115 – 115 N-linked (GlcNAc...) asparagine
111 – 114
Laron dwarfism and mutations of the growth hormone-receptor gene.
Amselem S.; Duquesnoy P.; Attree O.; Novelli G.; Bousnina S.; Postel-Vinay M.-C.; Goossens M.;
N. Engl. J. Med. 321:989-995(1989)
Cited for: VARIANT LARS SER-114;
Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.
Edery M.; Rozakis-Adcock M.; Goujon L.; Finidori J.; Levi-Meyrueis C.; Paly J.; Djiane J.; Postel-Vinay M.-C.; Kelly P.A.;
J. Clin. Invest. 91:838-844(1993)
Cited for: CHARACTERIZATION OF VARIANT LARS SER-114;
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.