Variant position: 865 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:
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 ENSIFLKWPEPENPNGLILM YEIKYGSQVEDQRECVSRQEY
Mouse ENSIFLKWPEPENPNGLILM YEIKYGSQVEDQRECVSRQEY
Rat ENSIFLKWPEPENPNGLILM YEIKYGSQVEDQRECVSRQEY
Xenopus laevis DGVIFLGWPEPLRPNGLILM YEIEYKHQGEVHRECVSRQDY
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
741 – 1367 Insulin-like growth factor 1 receptor beta chain
741 – 935 Extracellular
834 – 927 Fibronectin type-III 4
862 – 873
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;
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.