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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43167: Variant p.Cys408Gly

Zinc finger and BTB domain-containing protein 24
Gene: ZBTB24
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Variant information Variant position: help 408
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Glycine (G) at position 408 (C408G, p.Cys408Gly).
Physico-chemical properties: help Change from medium size and polar (C) to glycine (G)
BLOSUM score: help -3
Variant description: help In ICF2.
Other resources: help


Sequence information Variant position: help 408
Protein sequence length: help 697
Location on the sequence: help SQNRQLKSHYRVHTGHSLPE C KDCHRKFMDVSQLKKHLRTH
Residue conservation: help 
Human                         SQNRQLKSHYRVHTGHSLPECKDCHRKFMDVSQLKKHLRTH

Mouse                         SQKRQLKSHYRVHTGHSLPECSHCHRKFMDVSQLKKHLRTH

Rat                           SQKRQLKSHYRVHTGHSLPECNHCHRKFMDVSQLKKHLRTH

Zebrafish                     SQQRQLKSHNRVHTGKGLPECAECHHKFMDAAQLKKHLRTH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 697 Zinc finger and BTB domain-containing protein 24
Zinc finger 406 – 428 C2H2-type 5
Alternative sequence 334 – 697 Missing. In isoform 2.



Literature citations
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;
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.