Variant position: 78 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 82 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 SVRTVMRVPLIIVNSIAIVL LLLFG
Mouse SVRTVMRVPLIIVNSITIVL LLLFG
Rat SVRTVMRVPLIIVNSITIVL LLLFG
Bovine SVRTVMRVPLIIVNSIAIVL LLLFG
Xenopus laevis SVRTVMRVPLIIVNSVTIVL LLLFG
Zebrafish SVRTVMRVPLIAVNSVCIVL LLLFG
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
1 – 82 Immediate early response 3-interacting protein 1
62 – 82 Helical
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.
Poulton C.J.; Schot R.; Kia S.K.; Jones M.; Verheijen F.W.; Venselaar H.; de Wit M.C.; de Graaff E.; Bertoli-Avella A.M.; Mancini G.M.;
Am. J. Hum. Genet. 89:265-276(2011)
Cited for: VARIANTS MEDS GLY-21 AND PRO-78;
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
Abdel-Salam G.M.; Schaffer A.E.; Zaki M.S.; Dixon-Salazar T.; Mostafa I.S.; Afifi H.H.; Gleeson J.G.;
Am. J. Med. Genet. A 158A:2788-2796(2012)
Cited for: VARIANT MEDS PRO-78;
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.