Variant position: 458 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1382 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 LWDWSKHNLTITQGKLFFHY NPKLCLSEIHKMEEVSGTKGR
Mouse LWDWSKHNLTITQGKLFFHY NPKLCLSEIHKMEEVSGTKGR
Rat LWDWNKHNLTITQGKLFFHY NPKLCLSEIHKMEEVSGTKGR
Xenopus laevis LWDWHKHNLTIIHGKLFFHH NPRLCLSQIHQMEEVTGTKGR
Caenorhabditis elegans LFD-STTDLTLDRGTVSIAN NKMLCFKYIKQLMSKLNIPLD
Drosophila LWG-PNQTVFIRKGGVFFHF NPKLCVSTINQLLPMLASKPK
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
28 – 758 Insulin receptor subunit alpha
28 – 758 Extracellular
445 – 445 N-linked (GlcNAc...) asparagine
452 – 458
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
Maassen J.A.; Tobias E.S.; Kayserilli H.; Tukel T.; Yuksel-Apak M.; D'Haens E.; Kleijer W.J.; Fery F.; van der Zon G.C.M.;
J. Clin. Endocrinol. Metab. 88:4251-4257(2003)
Cited for: VARIANT IRAN TYPE A HIS-279; VARIANTS LEPRCH GLN-120; LEU-350; ASP-458 AND TRP-1119; CHARACTERIZATION OF VARIANT IRAN TYPE A HIS-279; CHARACTERIZATION OF VARIANTS LEPRCH GLN-120 AND ASP-458;
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.