Variant position: 439 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 T-LEIGNYSFYALDNQNLRQL WDWSKHNLTITQGKLFFHYNP
Mouse T-LEIGNYSFYALDNQNLRQL WDWSKHNLTITQGKLFFHYN
Rat T-LEIGNYSFYALDNQNLRQL WDWNKHNLTITQGKLFFHYN
Xenopus laevis V-LEAGNYSFYALDNPSLRQL WDWHKHNLTIIHGKLFFHHN
Caenorhabditis elegans S-LFRNLYAITVFENPNLKKL FD-STTDLTLDRGTVSIANN
Drosophila PPMDADKYALYVLDNRDLDEL WG-PNQTVFIRKGGVFFHFN
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
424 – 424 N-linked (GlcNAc...) asparagine
445 – 445 N-linked (GlcNAc...) asparagine
437 – 439
A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding.
van der Vorm E.R.; Kuipers A.; Kielkopf-Renner S.; Krans H.M.J.; Moller W.; Maassen J.A.;
J. Biol. Chem. 269:14297-14302(1994)
Cited for: VARIANT LEPRCH SER-439;
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