UniProtKB/SwissProt variant VAR

DNA-binding protein Ikaros
Gene: IKZF1
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Variant information Variant position:

184 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Glutamine (Q) at position 184 (R184Q, p.Arg184Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In CVID13; abolishes binding to DNA; has diffuse nuclear localization. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs869312885 [ dbSNP | Ensembl ]

Sequence information Variant position:

184 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:

IKLHSGEKPFKCHLCNYACR R RDALTGHLRTHSVGKPHKCG 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                         IKLHSGEKPFKCHLCNYACRRRDALTGHLRTHSVGKPHKCG

Mouse                         IKLHSGEKPFKCHLCNYACRRRDALTGHLRTHSVGKPHKCG

Chicken                       IKLHSGEKPFKCHLCNYACRRRDALTGHLRTHSVGKPHKCG

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
Chain	1 – 519	DNA-binding protein Ikaros
Zinc finger	173 – 195	C2H2-type 3
Region	180 – 195	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization
Site	188 – 188	Required for both pericentromeric heterochromatin localization and DNA binding
Modified residue	168 – 168	Phosphoserine
Modified residue	196 – 196	Phosphoserine
Alternative sequence	54 – 283	Missing. In isoform Ik6.
Alternative sequence	141 – 283	Missing. In isoform Ik5.
Mutagenesis	191 – 191	H -> R. Abolishes binding to DNA and has diffuse nuclear localization.

Literature citations
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;

Disclaimer: 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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13422: Variant p.Arg184Gln