Variant position: 56 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 PGMDIRN----NLTRLHELEN-------------CSV IEGHLQILLMFKTRPEDFRDL--------------
Mouse PGMDIRN----NLTRLHELEN-------------CSV IEGH
Rat PGMDIRN----NLTRLHELEN-------------CSV IEGH
Xenopus laevis YSMDIRN----NISQFSMLED-------------CTV IEGH
Caenorhabditis elegans GPIDIRNRPWDIKPQWSKLGDPNEKDLAGQRMVNCTV VEGS
Drosophila KSMDIRN----MVSHFNQLEN-------------CTV IEGF
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
66 – 66 Insulin-binding
43 – 43 N-linked (GlcNAc...) asparagine
52 – 52 N-linked (GlcNAc...) asparagine
53 – 65
Two novel mutations identified in familial cases with Donohue syndrome.
Falik Zaccai T.C.; Kalfon L.; Klar A.; Elisha M.B.; Hurvitz H.; Weingarten G.; Chechik E.; Fleisher Sheffer V.; Haj Yahya R.; Meidan G.; Gross-Kieselstein E.; Bauman D.; Hershkovitz S.; Yaron Y.; Orr-Urtreger A.; Wertheimer E.;
Mol. Genet. Genomic Med. 2:64-72(2014)
Cited for: VARIANTS LEPRCH THR-56 AND TYR-286; CHARACTERIZATION OF VARIANTS LEPRCH THR-56 AND TYR-286;
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.