Variant position: 125 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1051 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 RMNITVKNDPGHHIIEDM---------WL GVTV-ASQGPAGRVLVCAHRYT
Mouse RMDISEKSDPDHHIIEDM---------WL GVTV-ASQGPAG
Bovine RMDIKEKSNPN-HIIEDM---------WL GVTV-ASQGPAG
Drosophila PYVLDSRGNVDAPYSEYTFDSERKDFQWL GGSMDGGTKDTD
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
33 – 1051 Integrin alpha-3
33 – 872 Integrin alpha-3 heavy chain
33 – 991 Extracellular
110 – 171 FG-GAP 2
107 – 107 N-linked (GlcNAc...) asparagine
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
Colombo E.A.; Spaccini L.; Volpi L.; Negri G.; Cittaro D.; Lazarevic D.; Zirpoli S.; Farolfi A.; Gervasini C.; Cubellis M.V.; Larizza L.;
Orphanet J. Rare Dis. 11:136-136(2016)
Cited for: VARIANTS ILNEB ARG-125 AND GLN-274;
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