Sequence information
Variant position: 138 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1367 The length of the canonical sequence.
Location on the sequence:
VIFEMTNLKDIGLYNLRNIT
R GAIRIEKNADLCYLSTVDWS
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 VIFEMTNLKDIGLYNLRNITR GAIRIEKNADLCYLSTVDWS
Mouse VIFEMTNLKDIGLYNLRNITR GAIRIEKNADLCYLSTIDWS
Rat VIFEMTNLKDIGLYNLRNITR GAIRIEKNADLCYLSTIDWS
Xenopus laevis VIFEMTDLKEIGLYNLRNITR GAVRIEKNSELCYVSTVDWS
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
31 – 736
Insulin-like growth factor 1 receptor alpha chain
Glycosylation
135 – 135
N-linked (GlcNAc...) asparagine
Beta strand
138 – 144
Literature citations
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
Abuzzahab M.J.; Schneider A.; Goddard A.; Grigorescu F.; Lautier C.; Keller E.; Kiess W.; Klammt J.; Kratzsch J.; Osgood D.; Pfaeffle R.; Raile K.; Seidel B.; Smith R.J.; Chernausek S.D.;
N. Engl. J. Med. 349:2211-2222(2003)
Cited for: VARIANTS IGF1RES GLN-138 AND ASN-145; CHARACTERIZATION OF VARIANTS IGF1RES GLN-138 AND ASN-145;
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.