UniProtKB/Swiss-Prot P67870: Variant p.Arg86Cys

Casein kinase II subunit beta
Gene: CSNK2B
Feedback?

Variant information Variant position:

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

US 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 Cysteine (C) at position 86 (R86C, p.Arg86Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 POBINDS; uncertain significance; associated in cis with 5-E--R-215 del. Any additional useful information about the variant.

Sequence information Variant position:

86 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

215 The length of the canonical sequence.
Location on the sequence:

PNQSDLIEQAAEMLYGLIHA R YILTNRGIAQMLEKYQQGDF 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                         PNQSD---------------------------LIEQAAEMLYGLIHARYILTNRGIAQMLEKYQQGDF

Mouse                         PNQSD---------------------------LIEQAAEML

Rat                           PNQSD---------------------------LIEQAAEML

Pig                           PNQSD---------------------------LIEQAAEML

Bovine                        PNQSD---------------------------LIEQAAEML

Rabbit                        PNQSD---------------------------LIEQAAEML

Chicken                       PNQSD---------------------------LIEQAAEML

Xenopus laevis                PNQSD---------------------------LIEQAAEML

Zebrafish                     PNQSD---------------------------LIEQAAEML

Caenorhabditis elegans        ATNTD---------------------------LVEQAAEML

Drosophila                    PLQSD---------------------------MTEQAAEML

Baker's yeast                 VVEEDEVDQEMQSNDGHDEGKRRNKSPVVNKSIIEHAAEQL

Fission yeast                 ---------------------------------VEASARHL

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	2 – 215	Casein kinase II subunit beta
Modified residue	69 – 69	Phosphoserine
Helix	67 – 87

Literature citations
Germline de novo variants in CSNK2B in Chinese patients with epilepsy.
Li J.; Gao K.; Cai S.; Liu Y.; Wang Y.; Huang S.; Zha J.; Hu W.; Yu S.; Yang Z.; Xie H.; Yan H.; Wang J.; Wu Y.; Jiang Y.;
Sci. Rep. 9:17909-17909(2019)
Cited for: INVOLVEMENT IN POBINDS; VARIANTS POBINDS 5-GLU--ARG-215 DEL; CYS-86; PRO-111; GLY-137; PHE-137 AND ARG-187;

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.