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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92993: Variant p.Ser413Ala

Histone acetyltransferase KAT5
Gene: KAT5
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Variant information Variant position: help 413 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Serine (S) to Alanine (A) at position 413 (S413A, p.Ser413Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and polar (S) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In NEDFASB; decreased histone acetyltransferase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 413 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 513 The length of the canonical sequence.
Location on the sequence: help SKVEGKTGTPEKPLSDLGLL S YRSYWSQTILEILMGLKSES 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SKVEGKTGTPEKPLSDLGLLSYRSYWSQTILEILMGLKSES

Mouse                         SKVEGKTGTPEKPLSDLGLLSYRSYWSQTILEILMGLKSES

Rat                           SKVEGKTGTPEKPLSDLGLLSYRSYWSQTILEILMGLKSES
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 513 Histone acetyltransferase KAT5
Domain 227 – 504 MYST-type HAT
Region 368 – 513 Interaction with ATF2
Active site 403 – 403 Proton donor/acceptor
Binding site 407 – 407
Binding site 416 – 416
Cross 430 – 430 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross 430 – 430 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Mutagenesis 430 – 430 K -> R. Abrogates sumoylation. Abolished sumoylation by PIAS4, promoting interaction with PRKDC, leading to decreased repair of DNA double-strand breaks (DSBs) via homologous recombination (HR).
Helix 408 – 425



Literature citations
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Humbert J.; Salian S.; Makrythanasis P.; Lemire G.; Rousseau J.; Ehresmann S.; Garcia T.; Alasiri R.; Bottani A.; Hanquinet S.; Beaver E.; Heeley J.; Smith A.C.M.; Berger S.I.; Antonarakis S.E.; Yang X.J.; Cote J.; Campeau P.M.;
Am. J. Hum. Genet. 107:564-574(2020)
Cited for: INVOLVEMENT IN NEDFASB; VARIANTS NEDFASB HIS-53; SER-369 AND ALA-413; CHARACTERIZATION OF VARIANTS NEDFASB HIS-53; SER-369 AND ALA-413; FUNCTION; CATALYTIC ACTIVITY;
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.