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-NQDDYQLVRKLGRGKY SEVFEAINITNNEKVVVKIL
Mouse VVEWG-NQDDYQLVRKLGRGKY SEVFEAINITNNEKVVVKI
Rat VVEWG-NQDDYQLVRKLGRGKY SEVFEAINITNNEKVVVKI
Bovine VVEWG-NQDDYQLVRKLGRGKY SEVFEAINITNNEKVVVKI
Rabbit VVEWG-NQDDYQLVRKLGRGKY SEVFEAINITNNEKVVVKI
Chicken VVEWG-NQDDYQLVRKLGRGKY SEVFEAINITNNEKVVVKI
Xenopus laevis VVEWG-NQDDYQLVRKLGRGKY SEVFEAINITNNEKVVVKI
Baker's yeast VIDWSTNTKDYEIENKVGRGKY SEVFQGVKLDSKVKIVIKM
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;
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.