Variant position: 55 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 CPGMDIRN----NLTRLHELEN-------------CS VIEGHLQILLMFKTRPEDFRD
Mouse CPGMDIRN----NLTRLHELEN-------------CS VIEG
Rat CPGMDIRN----NLTRLHELEN-------------CS VIEG
Xenopus laevis CYSMDIRN----NISQFSMLED-------------CT VIEG
Caenorhabditis elegans CGPIDIRNRPWDIKPQWSKLGDPNEKDLAGQRMVNCT VVEG
Drosophila CKSMDIRN----MVSHFNQLEN-------------CT VIEG
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
66 – 66 Insulin-binding
43 – 43 N-linked (GlcNAc...) asparagine
52 – 52 N-linked (GlcNAc...) asparagine
53 – 65
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.
Barbetti F.; Gejman P.V.; Taylor S.I.; Raben N.; Cama A.; Bonora E.; Pizzo P.; Moghetti P.; Muggeo M.; Roth J.;
Cited for: VARIANTS LEPRCH ALA-55 AND ARG-393;
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