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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UQM7: Variant p.His466Tyr

Calcium/calmodulin-dependent protein kinase type II subunit alpha
Gene: CAMK2A
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Variant information Variant position: help 466 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Histidine (H) to Tyrosine (Y) at position 466 (H466Y, p.His466Tyr). 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: help Change from medium size and polar (H) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In MRT63; decreased oligomerization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 466 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 478 The length of the canonical sequence.
Location on the sequence: help TAQSEETRVWHRRDGKWQIV H FHRSGAPSVLPH 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TAQSEETRVWHRRDGKWQIVHFHRSGAPSV--------LPH-

Mouse                         TAQSEETRVWHRRDGKWQIVHFHRSGAPSV---

Rat                           TAQSEETRVWHRRDGKWQIVHFHRSGAPSV---

Drosophila                    THQSEETRVWHKRDNKWQNVHFHRSASAKISGA
Sequence annotation in neighborhood: help 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 – 478 Calcium/calmodulin-dependent protein kinase type II subunit alpha
Mutagenesis 466 – 478 Missing. Loss of oligomerization.
Beta strand 461 – 471



Literature citations
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.
Chia P.H.; Zhong F.L.; Niwa S.; Bonnard C.; Utami K.H.; Zeng R.; Lee H.; Eskin A.; Nelson S.F.; Xie W.H.; Al-Tawalbeh S.; El-Khateeb M.; Shboul M.; Pouladi M.A.; Al-Raqad M.; Reversade B.;
Elife 7:0-0(2018)
Cited for: INVOLVEMENT IN MRT63; SUBUNIT; VARIANT MRT63 TYR-466; CHARACTERIZATION OF VARIANT MRT63 TYR-466; MUTAGENESIS OF 466-HIS--HIS-478;
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.