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UniProtKB/Swiss-Prot O94925: Variant p.Arg272Lys

Glutaminase kidney isoform, mitochondrial
Gene: GLS
Variant information

Variant position:  272
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 Arginine (R) to Lysine (K) at position 272 (R272K, p.Arg272Lys).
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 large size and basic.
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 DEE71.
Any additional useful information about the variant.

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



Sequence information

Variant position:  272
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  669
The length of the canonical sequence.

Location on the sequence:   QLAKFSPDLWGVSVCTVDGQ  R HSTGDTKVPFCLQSCVKPLK
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                         QLAKFSPDLWGVSVCTVDGQRHSTGDTKVPFCLQSCVKPLK

Mouse                         QLAKFSPDLWGVSVCTVDGQRHSIGDTKVPFCLQSCVKPLK

Rat                           QLAKFSPDLWGVSVCTVDGQRHSIGDTKVPFCLQSCVKPLK

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 55 – 669 Glutaminase kidney isoform, mitochondrial 68 kDa chain
Chain 73 – 669 Glutaminase kidney isoform, mitochondrial 65 kDa chain
Binding site 286 – 286 Substrate
Alternative sequence 170 – 669 Missing. In isoform 2.
Mutagenesis 286 – 286 S -> A. Loss of enzyme activity.
Mutagenesis 289 – 289 K -> A. Loss of enzyme activity.
Beta strand 272 – 277


Literature citations

Identification of a loss-of-function mutation in the context of glutaminase deficiency and neonatal epileptic encephalopathy.
Rumping L.; Buettner B.; Maier O.; Rehmann H.; Lequin M.; Schlump J.U.; Schmitt B.; Schiebergen-Bronkhorst B.; Prinsen H.C.M.T.; Losa M.; Fingerhut R.; Lemke J.R.; Zwartkruis F.J.T.; Houwen R.H.J.; Jans J.J.M.; Verhoeven-Duif N.M.; van Hasselt P.M.; Jamra R.;
JAMA Neurol. 0:0-0(2018)
Cited for: FUNCTION; INVOLVEMENT IN DEE71; VARIANTS DEE71 81-GLN--LEU-669 DEL AND LYS-272;

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.