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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P63104: Variant p.Lys49Asn

14-3-3 protein zeta/delta
Gene: YWHAZ
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Variant information Variant position: help 49 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 Lysine (K) to Asparagine (N) at position 49 (K49N, p.Lys49Asn). 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 large size and basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 POPCHAS; likely pathogenic; variant knockin in Drosophila results in significant memory defects and abnormal brain structures indicating impaired YWHAZ protein function. Any additional useful information about the variant.


Sequence information Variant position: help 49 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 245 The length of the canonical sequence.
Location on the sequence: help VTEQGAELSNEERNLLSVAY K NVVGARRSSWRVVSSIEQKT 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                         VTEQGAELSNEERNLLSVAYKNVVGARRSSWRVVSSIEQKT

Mouse                         VTEQGAELSNEERNLLSVAYKNVVGARRSSWRVVSSIEQKT

Rat                           VTEQGAELSNEERNLLSVAYKNVVGARRSSWRVVSSIEQKT

Bovine                        VTEQGAELSNEERNLLSVAYKNVVGARRSSWRVVSSIEQKT

Sheep                         VTEQGAELSNEERNLLSVAYKNVVGARRSSWRVVSSIEQKT

Chicken                       VTEQGAELSNEERNLLSVAYKNVVGARRSSWRVVSSIEQKT

Xenopus laevis                VTEEGGELSNEERNLLSVAYKNVVGARRSSWRVVSSIEQKT

Xenopus tropicalis            VTEEGGELSNEERNLLSVAYKNVVGARRSSWRVVSSIEQKT

Drosophila                    VTETGVELSNEERNLLSVAYKNVVGARRSSWRVISSIEQKT
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 – 245 14-3-3 protein zeta/delta
Site 56 – 56 Interaction with phosphoserine on interacting protein
Modified residue 58 – 58 Phosphoserine; by PKA and PKB/AKT1
Modified residue 68 – 68 N6-acetyllysine
Alternative sequence 1 – 98 MDKNELVQKAKLAEQAERYDDMAACMKSVTEQGAELSNEERNLLSVAYKNVVGARRSSWRVVSSIEQKTEGAEKKQQMAREYREKIETELRDICNDVL -> MSQPCRKLWRHNYETSSCIEFLK. In isoform 2.
Mutagenesis 49 – 49 K -> E. Loss of interaction with NOXA1.
Mutagenesis 58 – 58 S -> A. Loss of sphingosine-activated PKA phosphorylation. Promotes homodimerization and heterodimerization with YWHAE. Enhanced transcriptional activity of P53.
Mutagenesis 58 – 58 S -> E. Loss of homodimerization. Reduced dimerization with YWHAE. Significantly reduced interaction with P53. No enhancement of P53 transcriptional activity.
Helix 38 – 67



Literature citations
YWHAZ variation causes intellectual disability and global developmental delay with brain malformation.
Wan R.P.; Liu Z.G.; Huang X.F.; Kwan P.; Li Y.P.; Qu X.C.; Ye X.G.; Chen F.Y.; Zhang D.W.; He M.F.; Wang J.; Mao Y.L.; Qiao J.D.;
Hum. Mol. Genet. 32:462-472(2023)
Cited for: VARIANT POPCHAS ASN-49; CHARACTERIZATION OF VARIANT POPCHAS ASN-49; INVOLVEMENT IN POPCHAS;
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.