UniProtKB/SwissProt variant VAR

Variant information

Variant position:

50

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Tyrosine (Y) to Serine (S) at position 50 (Y50S, p.Tyr50Ser).

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 aromatic (Y) to small size and polar (S)

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

BLOSUM score:

-2

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

Involvement in disease:

Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062]: An autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and variable dysmorphic features. {ECO:0000269|PubMed:27048600}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In OCNDS.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs869312849 [ dbSNP | Ensembl ]

Sequence information

Variant position:

50

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

391

The length of the canonical sequence.

Location on the sequence:

VVEWGNQDDYQLVRKLGRGK Y SEVFEAINITNNEKVVVKIL

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                         VVEWG-NQDDYQLVRKLGRGKYSEVFEAINITNNEKVVVKIL

Mouse                         VVEWG-NQDDYQLVRKLGRGKYSEVFEAINITNNEKVVVKI

Rat                           VVEWG-NQDDYQLVRKLGRGKYSEVFEAINITNNEKVVVKI

Bovine                        VVEWG-NQDDYQLVRKLGRGKYSEVFEAINITNNEKVVVKI

Rabbit                        VVEWG-NQDDYQLVRKLGRGKYSEVFEAINITNNEKVVVKI

Chicken                       VVEWG-NQDDYQLVRKLGRGKYSEVFEAINITNNEKVVVKI

Xenopus laevis                VVEWG-NQDDYQLVRKLGRGKYSEVFEAINITNNEKVVVKI

Baker's yeast                 VIDWSTNTKDYEIENKVGRGKYSEVFQGVKLDSKVKIVIKM

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 – 391	Casein kinase II subunit alpha
Domain	39 – 324	Protein kinase
Nucleotide binding	45 – 53	ATP
Binding site	68 – 68	ATP
Alternative sequence	1 – 136	Missing. In isoform 2.
Beta strand	49 – 58

Literature citations

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Okur V.; Cho M.T.; Henderson L.; Retterer K.; Schneider M.; Sattler S.; Niyazov D.; Azage M.; Smith S.; Picker J.; Lincoln S.; Tarnopolsky M.; Brady L.; Bjornsson H.T.; Applegate C.; Dameron A.; Willaert R.; Baskin B.; Juusola J.; Chung W.K.;
Hum. Genet. 135:699-705(2016)
Cited for: INVOLVEMENT IN OCNDS; VARIANTS OCNDS GLN-47; SER-50; GLY-175 AND ARG-198;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68400: Variant p.Tyr50Ser