Variant position: 47 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:
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 ESHVVEWG-NQDDYQLVRKLG RGKYSEVFEAINITNNEKVVV
Mouse ESHVVEWG-NQDDYQLVRKLG RGKYSEVFEAINITNNEKVV
Rat ESHVVEWG-NQDDYQLVRKLG RGKYSEVFEAINITNNEKVV
Bovine ESHVVEWG-NQDDYQLVRKLG RGKYSEVFEAINITNNEKVV
Rabbit ESHVVEWG-NQDDYQLVRKLG RGKYSEVFEAINITNNEKVV
Chicken ESHVVEWG-NQDDYQLVRKLG RGKYSEVFEAINITNNEKVV
Xenopus laevis ESHVVEWG-NQDDYQLVRKLG RGKYSEVFEAINITNNEKVV
Baker's yeast ENTVIDWSTNTKDYEIENKVG RGKYSEVFQGVKLDSKVKIV
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 – 391 Casein kinase II subunit alpha
39 – 324 Protein kinase
45 – 53 ATP
1 – 136 Missing. In isoform 2.
39 – 47
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;
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.