Variant position: 386 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 S--LIINIRG--GNNLAAELEANL GLIEEISGYLKIRRSYALVSL
Mouse S--LIINIRG--GNNLAAELEANL GLIEEISGFLKIRRSYA
Rat S--LIINIRG--GNNLAAELEANL GLIEEISGFLKIRRSYA
Xenopus laevis S--LIINLRG--GNNIATELEANL GLIEEISGYLKIRRSYA
Caenorhabditis elegans N--LTIEIRGKQDSGMASELKDIF ANIHTITGYLLVRQSSP
Drosophila TEPLTISIKRESGAHVMDELKYGL AAVHKIQSSLMVHLTYG
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
400 – 400 Phosphoserine
401 – 401 Phosphotyrosine
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;
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