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UniProtKB/Swiss-Prot Q9Y6T7: Variant p.Gly789Ser

Diacylglycerol kinase beta
Gene: DGKB
Variant information

Variant position:  789
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Glycine (G) to Serine (S) at position 789 (G789S, p.Gly789Ser).
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:  Change from glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

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



Sequence information

Variant position:  789
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  804
The length of the canonical sequence.

Location on the sequence:   TIKITHKNQAPMLMGPPPKT  G LFCSLVKRTRNRSKE
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                         TIKITHKNQAPMLMGPPPKTGLFCSLVKRTRNRSKE

Mouse                         TIKITHKNQAPMLMGPPPKTGLFCSLIKRTRNRSKE

Rat                           TIKITHKNQAPMLMGPPPKTGLFCSLIKRTRNRSKE

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 – 804 Diacylglycerol kinase beta
Region 771 – 804 Required for association with membranes and function in neurite spine formation
Modified residue 793 – 793 Phosphoserine
Alternative sequence 774 – 804 Missing. In isoform 2.


Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

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.