Variant position: 937 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 SPGNYSVRIRATSLAGNGSW TEPTYFYVTDYLDVPS-NIAKI
Mouse SPGNYSVRVRATSLAGNGSW TEPTYFYVTDYLDVPS-NIAK
Rat SPGNYSVRVRATSLAGNGSW TEPTYFYVTDYLDVPS-NIAK
Xenopus laevis TPGNYSVKIRATSLAGNGSW TEQAYFQVPDH---PHSNIVK
Caenorhabditis elegans ADGRYFVSVTATSVHGAGPE AESSDPIVVMT---PGFFTVE
Drosophila NEGLYSFRVRANSIAGYGDF TEVEHIKVEPP---PS--YAK
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
763 – 1382 Insulin receptor subunit beta
763 – 956 Extracellular
853 – 947 Fibronectin type-III 3
920 – 920 N-linked (GlcNAc...) asparagine
933 – 933 N-linked (GlcNAc...) asparagine
Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.
Kadowaki H.; Takahashi Y.; Ando A.; Momomura K.; Kaburagi Y.; Quin J.D.; MacCuish A.C.; Koda N.; Fukushima Y.; Taylor S.I.; Akanuma Y.; Yazaki Y.; Kadowaki T.;
Biochem. Biophys. Res. Commun. 237:516-520(1997)
Cited for: CHARACTERIZATION OF VARIANT LEPRCH MET-937;
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
Hosoe J.; Kadowaki H.; Miya F.; Aizu K.; Kawamura T.; Miyata I.; Satomura K.; Ito T.; Hara K.; Tanaka M.; Ishiura H.; Tsuji S.; Suzuki K.; Takakura M.; Boroevich K.A.; Tsunoda T.; Yamauchi T.; Shojima N.; Kadowaki T.;
Cited for: VARIANTS RMS CYS-256; LEU-635; ILE-835; VAL-842; LEU-874; SER-878 AND 999-TYR--SER-1382 DEL; VARIANTS IRAN TYPE A ASP-489 AND MET-1054; VARIANTS LEPRCH PHE-657; ARG-659 AND CYS-818; CHARACTERIZATION OF VARIANTS LEPRCH PHE-657; ARG-659; CYS-818; THR-925; TRP-926 AND MET-937; CHARACTERIZATION OF VARIANTS RMS LEU-635; ILE-835; VAL-842; LEU-874 AND SER-878;
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