Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UGM6: Variant p.Lys313Met

Tryptophan--tRNA ligase, mitochondrial
Gene: WARS2
Feedback?
Variant information Variant position: help 313 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Lysine (K) to Methionine (M) at position 313 (K313M, p.Lys313Met). 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: help Change from large size and basic (K) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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: help In NEMMLAS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 313 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 360 The length of the canonical sequence.
Location on the sequence: help RSAGMNTARYKLAVADAVIE K FAPIKREIEKLKLDKDHLEK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RSAGMNTAR-YKLAVADAVIEKFAPIKREIEKLKLDKDHLEK

Mouse                         SSAGLDTAR-YKLLVADAVIEKFAPIRKEIEKLKMDKDHLR

Bovine                        RSAGMDTAR-YKLVVADAVIEKFAPIKSEIEKLKMNKDHLE

Caenorhabditis elegans        DFSNWTTLD-LKMNLAEAVDKRLAPIRQKFEELQNTGE-VD

Slime mold                    EFKDKSNAI-FKEFLSNSIIKNISPIREKINYYQSNPKLVR

Baker's yeast                 DVSRFNNYRDFKDYVSEVIIEELKGPRTEFEKYINEPTYLH

Fission yeast                 ANASCSNAE-FKEKVSSAIIRCLQPISTSFNEWRQNRELLR
Sequence annotation in neighborhood: help 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 19 – 360 Tryptophan--tRNA ligase, mitochondrial
Alternative sequence 221 – 360 Missing. In isoform 2.
Helix 299 – 324



Literature citations
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
Theisen B.E.; Rumyantseva A.; Cohen J.S.; Alcaraz W.A.; Shinde D.N.; Tang S.; Srivastava S.; Pevsner J.; Trifunovic A.; Fatemi A.;
Am. J. Med. Genet. A 173:2505-2510(2017)
Cited for: INVOLVEMENT IN NEMMLAS; VARIANTS NEMMLAS LEU-100 DEL AND MET-313; 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; Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Maffezzini C.; Laine I.; Dallabona C.; Clemente P.; Calvo-Garrido J.; Wibom R.; Naess K.; Barbaro M.; Falk A.; Donnini C.; Freyer C.; Wredenberg A.; Wedell A.;
Mol. Genet. Genomic Med. 7:e654-e654(2019)
Cited for: VARIANTS NEMMLAS GLY-278 AND MET-313; A relatively common hypomorphic variant in WARS2 causes monogenic disease.
Ilinca A.; Kafantari E.; Puschmann A.;
Parkinsonism Relat. Disord. 94:129-131(2022)
Cited for: VARIANTS NEMMLAS GLY-278 AND MET-313;
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.