Variant position: 499 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3432 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 QPIRSLYRTHVIRRFWNTLQ SINQTDQMLAHLQSFSSVPEH
Mouse QPIRSLYRTHVIRRFWNTLQ SINQTDQMLAHLQSFSSVPEH
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 – 3432 KICSTOR complex protein SZT2
181 – 3432 Missing. In isoform 4.
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
Basel-Vanagaite L.; Hershkovitz T.; Heyman E.; Raspall-Chaure M.; Kakar N.; Smirin-Yosef P.; Vila-Pueyo M.; Kornreich L.; Thiele H.; Bode H.; Lagovsky I.; Dahary D.; Haviv A.; Hubshman M.W.; Pasmanik-Chor M.; Nurnberg P.; Gothelf D.; Kubisch C.; Shohat M.; Macaya A.; Borck G.;
Am. J. Hum. Genet. 93:524-529(2013)
Cited for: INVOLVEMENT IN EIEE18; VARIANTS EIEE18 25-ARG--LEU-3432 DEL; ILE-499 AND 698-GLN--LEU-3432 DEL; TISSUE SPECIFICITY;
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.