Variant position: 350 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 PCLG-PCPKVCHLLEGEKTID SVTSAQELRGCTVINGS--LIIN
Mouse PCLG-PCPKVCQILEGEKTID SVTSAQELRGCTVINGS--L
Rat PCLG-PCPKVCQILEGEKTID SVTSAQELRGCTVINGS--L
Xenopus laevis PCAG-PCPKVCTIFQNVKTID SVTSAQELRGCTVINGS--L
Caenorhabditis elegans KCVG-KCEIVCEI---NHVID TFPKAQAIRLCNIIDGN--L
Drosophila PCPGGKCDKECS----SGLID SLERAREFHGCTIITGTEPL
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
364 – 364 N-linked (GlcNAc...) asparagine
339 – 360
Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.
Krook A.; Kumar S.; Laing I.; Boulton A.J.; Wass J.A.; O'Rahilly S.;
Cited for: VARIANT RMS SYNDROME LEU-350; VARIANTS IRAN TYPE A LEU-1205 AND GLN-1378; VARIANT MET-1012;
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
Maassen J.A.; Tobias E.S.; Kayserilli H.; Tukel T.; Yuksel-Apak M.; D'Haens E.; Kleijer W.J.; Fery F.; van der Zon G.C.M.;
J. Clin. Endocrinol. Metab. 88:4251-4257(2003)
Cited for: VARIANT IRAN TYPE A HIS-279; VARIANTS LEPRCH GLN-120; LEU-350; ASP-458 AND TRP-1119; CHARACTERIZATION OF VARIANT IRAN TYPE A HIS-279; CHARACTERIZATION OF VARIANTS LEPRCH GLN-120 AND ASP-458;
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.