Variant position: 236 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 QKVC------PTICKSHGCTAEGLCC HSECLGNCS-QPDDPTKCVACR
Mouse QKVC------PTICKSHGCTAEGLCC HKECLGNCS-EPDDP
Rat QKVC------PTICKSHGCTAEGLCC HKECLGNCS-EPDDP
Xenopus laevis QKVC------PSDCKGSGCLPDGQCC HPECLGSCR-KPNDP
Caenorhabditis elegans QKSCAYDRLLPTKEIGPGCDANGDRC HDQCVGGCE-RVNDA
Drosophila QTKC------PEKCRNN-CIDEHTCC SQDCLGGCVIDKNGN
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
182 – 339 Cys-rich
242 – 242 N-linked (GlcNAc...) asparagine
235 – 243
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
Kadowaki T.; Kadowaki H.; Rechler M.M.; Serrano-Rios M.; Roth J.; Gorden P.; Taylor S.I.;
J. Clin. Invest. 86:254-264(1990)
Cited for: VARIANT RMS LYS-42; VARIANT LEPRCH ARG-236; VARIANT IRAN TYPE A SER-489;
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.
Tuthill A.; Semple R.K.; Day R.; Soos M.A.; Sweeney E.; Seymour P.J.; Didi M.; O'Rahilly S.;
Clin. Endocrinol. (Oxf.) 66:21-26(2007)
Cited for: VARIANTS RMS ARG-236 AND SER-386; CHARACTERIZATION OF VARIANTS RMS ARG-236 AND SER-386;
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.