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:
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 IKNCSETQYESKVFYLKMKG DYYRYLAEVATGEKRATVVES
Mouse IKNCSETQYESKVFYLKMKG DYYRYLAEVATGEKRATVVES
Rat IKNCSETQYESKVFYLKMKG DYYRYLAEVATGEKRATVVES
Bovine IKNCSETQIESKVFYLKMKG DYYRYLAEVATGEKRATVVES
Chicken IKNCSETQYESKVFYLKMKG DYYRYLAEVATGEKRATVVES
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.
Type Positions Description
1 – 247 14-3-3 protein gamma
2 – 247 14-3-3 protein gamma, N-terminally processed
132 – 132 Interaction with phosphoserine on interacting protein
133 – 133 Phosphotyrosine
145 – 145 Phosphothreonine
117 – 137
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;
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.