Variant position: 487 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 HKMEEVSGTKGRQ-ERNDIAL KTNGDQASCENELLKFSYIRT
Mouse HKMEEVSGTKGRQ-ERNDIAL KTNGDQASCENELLKFSFIR
Rat HKMEEVSGTKGRQ-ERNDIAL KTNGDQASCENELLKFSFIR
Xenopus laevis HQMEEVTGTKGRQ-DKNDIAT KTNGDQASCEDNLLTFNFIK
Caenorhabditis elegans KQLMSKLNIPLDPIDQSE--- GTNGEKAICEDMAINVSITA
Drosophila NQLLPMLASKPKFFEKSDVGA DSNGNRGSCGTAVLNVTLQS
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.
Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
Kadowaki T.; Bevins C.; Cama A.; Ojamaa K.; Marcus-Samuels B.; Kadowaki H.; Beitz L.; McKeon C.; Taylor S.I.;
Cited for: VARIANT LEPRCH GLU-487;
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