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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P56524: Variant p.Val754Ile

Histone deacetylase 4
Gene: HDAC4
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Variant information Variant position: help 754
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 754 (V754I, p.Val754Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 754
Protein sequence length: help 1084
Location on the sequence: help DSKKLLGSLASVFVRLPCGG V GVDSDTIWNEVHSAGAARLA
Residue conservation: help 
Human                         DSKKLLGSLASVFVRLPCGGVGVDSDTIWNEVHSAGAARLA

Mouse                         DS-----SLTSVFVRLPCGGVGVDSDTIWNEVHSSGAARLA

Rat                           DS-----SLTSVFVRLPCGGVGVDSDTIWNEVHSSGAARLA

Chicken                       DSKKLLGSLTSMFVRLPCGGVGVDSDTIWNEVHSSGAARLA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1084 Histone deacetylase 4
Region 655 – 1084 Histone deacetylase
Binding site 751 – 751
Beta strand 754 – 756



Literature citations
20 ans apres: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Piton A.; Poquet H.; Redin C.; Masurel A.; Lauer J.; Muller J.; Thevenon J.; Herenger Y.; Chancenotte S.; Bonnet M.; Pinoit J.M.; Huet F.; Thauvin-Robinet C.; Jaeger A.S.; Le Gras S.; Jost B.; Gerard B.; Peoc'h K.; Launay J.M.; Faivre L.; Mandel J.L.;
Eur. J. Hum. Genet. 22:776-783(2014)
Cited for: VARIANT ILE-754;
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.