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UniProtKB/Swiss-Prot Q9UPZ9: Variant p.Lys220Glu

Serine/threonine-protein kinase ICK
Gene: ICK
Chromosomal location: 6p11.2-p12.3
Variant information

Variant position:  220
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 Lysine (K) to Glutamate (E) at position 220 (K220E, p.Lys220Glu).
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 (K) to medium size and acidic (E)
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

Involvement in disease:  Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924]: A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life. {ECO:0000269|PubMed:29539279}. 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 EJM10; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system.
Any additional useful information about the variant.



Sequence information

Variant position:  220
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  632
The length of the canonical sequence.

Location on the sequence:   FPGASEIDTIFKICQVLGTP  K KTDWPEGYQLSSAMNFRWPQ
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                         FPGASEIDTIFKICQVLGTPKKTDWPEGYQLSSAMNFRWPQ

Mouse                         FPGASEIDTIFKICQVLGTPKKTDWPEGYQLSSAMNFLWPQ

Rat                           FPGASEIDTIFKICQVLGTPKKTDWPEGYQLSSAMNFIWPQ

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.

TypePositionsDescription
Chain 1 – 632 Serine/threonine-protein kinase ICK
Domain 4 – 284 Protein kinase


Literature citations

Variant intestinal-cell kinase in juvenile myoclonic epilepsy.
Bailey J.N.; de Nijs L.; Bai D.; Suzuki T.; Miyamoto H.; Tanaka M.; Patterson C.; Lin Y.C.; Medina M.T.; Alonso M.E.; Serratosa J.M.; Duron R.M.; Nguyen V.H.; Wight J.E.; Martinez-Juarez I.E.; Ochoa A.; Jara-Prado A.; Guilhoto L.; Molina Y.; Yacubian E.M.; Lopez-Ruiz M.; Inoue Y.; Kaneko S.; Hirose S.; Osawa M.; Oguni H.; Fujimoto S.; Grisar T.M.; Stern J.M.; Yamakawa K.; Lakaye B.; Delgado-Escueta A.V.;
N. Engl. J. Med. 378:1018-1028(2018)
Cited for: INVOLVEMENT IN EJM10; VARIANTS EJM10 LEU-102; GLU-220; THR-305; 369-PRO--LEU-373 DEL; THR-615 AND ARG-632 DEL; CHARACTERIZATION OF VARIANT ECO GLN-272; VARIANT ILE-320; CHARACTERIZATION OF VARIANTS EJM10 GLU-220; THR-305; THR-615 AND ARG-632 DEL;

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.