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UniProtKB/Swiss-Prot Q9HC78: Variant p.Leu621Phe

Zinc finger and BTB domain-containing protein 20
Gene: ZBTB20
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Variant information Variant position: help 621
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Phenylalanine (F) at position 621 (L621F, p.Leu621Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and aromatic (F)
BLOSUM score: help 0
Variant description: help In PRIMS; strongly reduced DNA binding; reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele.
Other resources: help


Sequence information Variant position: help 621
Protein sequence length: help 741
Location on the sequence: help TGEKPHQCSICWRSFSLKDY L IKHMVTHTGVRAYQCSICNK
Residue conservation: help 
Human                         TGEKPHQCSICWRSFSLKDYLIKHMVTHTGVRAYQCSICNK

Mouse                         TGEKPHQCSICWRSFSLKDYLIKHMVTHTGVRAYQCSICNK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 741 Zinc finger and BTB domain-containing protein 20
Zinc finger 606 – 628 C2H2-type 2



Literature citations
Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu V.; Redeker B.; Stellacci E.; Jongejan A.; Fragale A.; Bradley T.E.; Anselmi M.; Ciolfi A.; Cecchetti S.; Muto V.; Bernardini L.; Azage M.; Carvalho D.R.; Espay A.J.; Male A.; Molin A.M.; Posmyk R.; Battisti C.; Casertano A.; Melis D.; van Kampen A.; Baas F.; Mannens M.M.; Bocchinfuso G.; Stella L.; Tartaglia M.; Hennekam R.C.;
Nat. Genet. 46:815-817(2014)
Cited for: INVOLVEMENT IN PRIMS; VARIANTS PRIMS GLN-590; ARG-596; ALA-602 AND PHE-621; CHARACTERIZATION OF VARIANTS PRIMS GLN-590; ARG-596; ALA-602 AND PHE-621;
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.