Variant position: 113 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 VYGLESLKDLFPNLTVIRGS RLFFNYALVIFEMVHLKELGL
Mouse VYGLESLKDLFPNLTVIRGS RLFFNYALVIFEMVHLKELGL
Rat VYGLESLKDLFPNLTVIRGS RLFFNYALVIFEMVHLKELGL
Xenopus laevis VYGLESLKDLFPNLTVIRGT RLFFNYALVIFEMVHXKEIGL
Caenorhabditis elegans TEGLVDLRKIFPNLRVIGGR SLIQHYALIIYRNPDL-EIGL
Drosophila VTGLHSLSKIFPNLSVIRGN KLFDGYALVVYSNFDLMDLGL
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
28 – 174 Leu-rich
105 – 105 N-linked (GlcNAc...) asparagine
Activation of glucose transport by a natural mutation in the human insulin receptor.
Longo N.; Langley S.D.; Griffin L.D.; Elsas L.J.;
Proc. Natl. Acad. Sci. U.S.A. 90:60-64(1993)
Cited for: VARIANT LEPRCH PRO-113;
Genotype-phenotype correlation in inherited severe insulin resistance.
Longo N.; Wang Y.; Smith S.A.; Langley S.D.; DiMeglio L.A.; Giannella-Neto D.;
Hum. Mol. Genet. 11:1465-1475(2002)
Cited for: CHARACTERIZATION OF VARIANTS LEPRCH PRO-113; VAL-119; ASN-308 DEL; THR-925 AND TRP-926; VARIANTS RMS THR-997; THR-1143; TRP-1158 AND TRP-1201;
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.