Home  |  Contact

UniProtKB/Swiss-Prot P61981: Variant p.Asp129Glu

14-3-3 protein gamma
Gene: YWHAG
Variant information

Variant position:  129
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Aspartate (D) to Glutamate (E) at position 129 (D129E, p.Asp129Glu).
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:  Similar physico-chemical property. Both residues are medium size and acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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:  In DEE56.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  129
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  247
The length of the canonical sequence.

Location on the sequence:   IKNCSETQYESKVFYLKMKG  D YYRYLAEVATGEKRATVVES
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         IKNCSETQYESKVFYLKMKGDYYRYLAEVATGEKRATVVES

Mouse                         IKNCSETQYESKVFYLKMKGDYYRYLAEVATGEKRATVVES

Rat                           IKNCSETQYESKVFYLKMKGDYYRYLAEVATGEKRATVVES

Bovine                        IKNCSETQIESKVFYLKMKGDYYRYLAEVATGEKRATVVES

Chicken                       IKNCSETQYESKVFYLKMKGDYYRYLAEVATGEKRATVVES

Sequence annotation in neighborhood:  
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 – 247 14-3-3 protein gamma
Chain 2 – 247 14-3-3 protein gamma, N-terminally processed
Site 132 – 132 Interaction with phosphoserine on interacting protein
Modified residue 133 – 133 Phosphotyrosine
Modified residue 145 – 145 Phosphothreonine
Helix 117 – 137


Literature citations

De novo mutations in YWHAG cause early-onset epilepsy.
Guella I.; McKenzie M.B.; Evans D.M.; Buerki S.E.; Toyota E.B.; Van Allen M.I.; Suri M.; Elmslie F.; Simon M.E.H.; van Gassen K.L.I.; Heron D.; Keren B.; Nava C.; Connolly M.B.; Demos M.; Farrer M.J.;
Am. J. Hum. Genet. 101:300-310(2017)
Cited for: INVOLVEMENT IN DEE56; VARIANTS DEE56 ALA-15; GLU-129 AND CYS-132; VARIANTS GLN-50 AND SER-133;

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.