Variant position: 466 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 478 The length of the canonical sequence.
Location on the sequence:
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 TAQSEETRVWHRRDGKWQIV HFHRSGAPSV--------LPH-
Mouse TAQSEETRVWHRRDGKWQIV HFHRSGAPSV---
Rat TAQSEETRVWHRRDGKWQIV HFHRSGAPSV---
Drosophila THQSEETRVWHKRDNKWQNV HFHRSASAKISGA
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
1 – 478 Calcium/calmodulin-dependent protein kinase type II subunit alpha
466 – 478 Missing. Loss of oligomerization.
461 – 471
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.;
Cited for: INVOLVEMENT IN MRT63; SUBUNIT; VARIANT MRT63 TYR-466; CHARACTERIZATION OF VARIANT MRT63 TYR-466; MUTAGENESIS OF 466-HIS--HIS-478;
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