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:
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 QLAKFSPDLWGVSVCTVDGQ RHSTGDTKVPFCLQSCVKPLK
Mouse QLAKFSPDLWGVSVCTVDGQ RHSIGDTKVPFCLQSCVKPLK
Rat QLAKFSPDLWGVSVCTVDGQ RHSIGDTKVPFCLQSCVKPLK
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
55 – 669 Glutaminase kidney isoform, mitochondrial 68 kDa chain
73 – 669 Glutaminase kidney isoform, mitochondrial 65 kDa chain
286 – 286 Substrate
170 – 669 Missing. In isoform 2.
286 – 286 S -> A. Loss of enzyme activity.
289 – 289 K -> A. Loss of enzyme activity.
272 – 277
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;
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.