Sequence information
Variant position: 1256 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:
NCPDMLFELMRMCWQYNPKM
R PSFLEIISSIKEEMEPGFRE
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 NCPDMLFELMRMCWQYNPKMR PSFLEIISSIKEEMEPGFRE
Mouse NCPDMLFELMRMCWQYNPKMR PSFLEIIGSIKDEMEPSFQE
Rat NCPDMLFELMRMCWQYNPKMR PSFLEIIGSIKDEMEPSFQE
Xenopus laevis NCPDMLFELMRMCWQFNPKMR PSFLEIISSIKDELDPGFKE
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
741 – 1367
Insulin-like growth factor 1 receptor beta chain
Topological domain
960 – 1367
Cytoplasmic
Domain
999 – 1274
Protein kinase
Literature citations
Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.
Juanes M.; Guercio G.; Marino R.; Berensztein E.; Warman D.M.; Ciaccio M.; Gil S.; Bailez M.; Rivarola M.A.; Belgorosky A.;
Clin. Endocrinol. (Oxf.) 82:704-711(2015)
Cited for: VARIANTS IGF1RES TYR-359; CYS-865; SER-1256 AND CYS-1337; CHARACTERIZATION OF VARIANTS IGF1RES TYR-359; CYS-865; SER-1256 AND CYS-1337;
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.