Variant position: 210 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 519 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 GHLRTHSVGKPHKCGYCGRS YKQRSSLEEHKERCHNYLESM
Mouse GHLRTHSVGKPHKCGYCGRS YKQRSSLEEHKERCHNYLESM
Chicken GHLRTHSVGKPHKCGYCGRS YKQRSSLEEHKERCHNYLQTM
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 – 519 DNA-binding protein Ikaros
201 – 224 C2H2-type 4
196 – 196 Phosphoserine
54 – 283 Missing. In isoform Ik6.
141 – 283 Missing. In isoform Ik5.
197 – 283 Missing. In isoform Ik3 and isoform Ik4.
197 – 238 Missing. In isoform Ik7 and isoform Ikx.
191 – 191 H -> R. Abolishes binding to DNA and has diffuse nuclear localization.
Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene.
Goldman F.D.; Gurel Z.; Al-Zubeidi D.; Fried A.J.; Icardi M.; Song C.; Dovat S.;
Pediatr. Blood Cancer 58:591-597(2012)
Cited for: INVOLVEMENT IN CVID13; VARIANT CVID13 CYS-210; CHARACTERIZATION OF VARIANT CVID13 CYS-210; SUBCELLULAR LOCATION;
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
Kuehn H.S.; Boisson B.; Cunningham-Rundles C.; Reichenbach J.; Stray-Pedersen A.; Gelfand E.W.; Maffucci P.; Pierce K.R.; Abbott J.K.; Voelkerding K.V.; South S.T.; Augustine N.H.; Bush J.S.; Dolen W.K.; Wray B.B.; Itan Y.; Cobat A.; Sorte H.S.; Ganesan S.; Prader S.; Martins T.B.; Lawrence M.G.; Orange J.S.; Calvo K.R.; Niemela J.E.; Casanova J.L.; Fleisher T.A.; Hill H.R.; Kumanovics A.; Conley M.E.; Rosenzweig S.D.;
N. Engl. J. Med. 374:1032-1043(2016)
Cited for: VARIANTS CVID13 GLN-162; LEU-162; ARG-167 AND GLN-184; CHARACTERIZATION OF VARIANTS CVID13 GLN-162; LEU-162; ARG-167; GLN-184 AND CYS-210; MUTAGENESIS OF ASN-159 AND HIS-191;
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.