UniProtKB/SwissProt variant VAR

Variant information

Variant position:

167

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 Histidine (H) to Arginine (R) at position 167 (H167R, p.His167Arg).

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 medium size and polar (H) to large size and basic (R)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 rs869312884 [ dbSNP | Ensembl ]

Sequence information

Variant position:

167

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:

CNQCGASFTQKGNLLRHIKL H SGEKPFKCHLCNYACRRRDA

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                         CNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNYACRRRDA

Mouse                         CNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNYACRRRDA

Chicken                       CNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNYACRRRDA

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	145 – 167	C2H2-type 2
Site	159 – 159	Required for both pericentromeric heterochromatin localization and complete DNA binding
Site	162 – 162	Required for both pericentromeric heterochromatin localization and complete DNA binding
Modified residue	168 – 168	Phosphoserine
Alternative sequence	54 – 283	Missing. In isoform Ik6.
Alternative sequence	141 – 283	Missing. In isoform Ik5.
Mutagenesis	159 – 159	N -> A. Abolishes binding to DNA and has diffuse nuclear localization.
Helix	157 – 168

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13422: Variant p.His167Arg