Variant position: 408 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 697 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 SQNRQLKSHYRVHTGHSLPE CKDCHRKFMDVSQLKKHLRTH
Mouse SQKRQLKSHYRVHTGHSLPE CSHCHRKFMDVSQLKKHLRTH
Rat SQKRQLKSHYRVHTGHSLPE CNHCHRKFMDVSQLKKHLRTH
Zebrafish SQQRQLKSHNRVHTGKGLPE CAECHHKFMDAAQLKKHLRTH
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 – 697 Zinc finger and BTB domain-containing protein 24
406 – 428 C2H2-type 5
334 – 697 Missing. In isoform 2.
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef J.C.; Wang J.; Balog J.; den Dunnen J.T.; Frants R.R.; Straasheijm K.R.; Aytekin C.; van der Burg M.; Duprez L.; Ferster A.; Gennery A.R.; Gimelli G.; Reisli I.; Schuetz C.; Schulz A.; Smeets D.F.; Sznajer Y.; Wijmenga C.; van Eggermond M.C.; van Ostaijen-Ten Dam M.M.; Lankester A.C.; van Tol M.J.; van den Elsen P.J.; Weemaes C.M.; van der Maarel S.M.;
Am. J. Hum. Genet. 88:796-804(2011)
Cited for: VARIANT ICF2 GLY-408; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE;
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.