Variant position: 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 360 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 AAPALQKDSKKRV-FSGIQPT GIL-HLGNYLGAIESWVRLQDE
Mouse ATLAPQKESGERV-FSGIQPT GIL-HLGNYLGAIESWVNLQ
Bovine AAPVPQKDAVKRI-FSGIQPT GIP-HLGNYLGAIESWVRLQ
Caenorhabditis elegans NLRLLSTSTHPTIYFTGIQPT GIP-HLGNFFGSIEPWTELQ
Slime mold --------TKVTV-FSGMQPT SSALHLGNYLGAMGNWLKIQ
Baker's yeast KLNSEALHSNATV-FSMIQPT GCF-HLGNYLGATRVWTDLC
Fission yeast --------PHSRV-VSGIQPT GIP-HIGNYLGSLKQWVQLQ
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
19 – 360 Tryptophan--tRNA ligase, mitochondrial
42 – 42 ATP
43 – 45
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Wortmann S.B.; Timal S.; Venselaar H.; Wintjes L.T.; Kopajtich R.; Feichtinger R.G.; Onnekink C.; Muehlmeister M.; Brandt U.; Smeitink J.A.; Veltman J.A.; Sperl W.; Lefeber D.; Pruijn G.; Stojanovic V.; Freisinger P.; V Spronsen F.; Derks T.G.; Veenstra-Knol H.E.; Mayr J.A.; Roetig A.; Tarnopolsky M.; Prokisch H.; Rodenburg R.J.;
Hum. Mutat. 38:1786-1795(2017)
Cited for: INVOLVEMENT IN NEMMLAS; VARIANTS NEMMLAS VAL-45; GLN-77; LEU-178; MET-313; LEU-349 AND LYS-352;
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.