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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12081: Variant p.Arg137Gln

Histidine--tRNA ligase, cytoplasmic
Gene: HARS1
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Variant information Variant position: help 137 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 Arginine (R) to Glutamine (Q) at position 137 (R137Q, p.Arg137Gln). 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 (R) to medium size and polar (Q) 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 CMT2W; has a neurotoxic effect in an animal model; results in loss of function. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 137 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 509 The length of the canonical sequence.
Location on the sequence: help LKDQGGELLSLRYDLTVPFA R YLAMNKLTNIKRYHIAKVYR 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                         LKDQGGELLSLRYDLTVPFARYLAMNKLTNIKRYHIAKVYR

Mouse                         LKDQGGELLSLRYDLTVPFARYLAMNKLTNIKRYHIAKVYR

Bovine                        LKDQGGELLSLRYDLTVPFARYLAMNKLTNIKRYHIAKVYR

Zebrafish                     LKDQGGELLSLRYDLTVPFARYLAMNKITNIKRYHIAKVYR
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 2 – 509 Histidine--tRNA ligase, cytoplasmic
Binding site 157 – 157
Helix 132 – 141



Literature citations
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Vester A.; Velez-Ruiz G.; McLaughlin H.M.; Lupski J.R.; Talbot K.; Vance J.M.; Zuchner S.; Roda R.H.; Fischbeck K.H.; Biesecker L.G.; Nicholson G.; Beg A.A.; Antonellis A.;
Hum. Mutat. 34:191-199(2013)
Cited for: INVOLVEMENT IN CMT2W; VARIANTS GLU-5; ASP-205 AND ARG-376; VARIANTS CMT2W GLN-137; ALA-238 AND SER-505; CHARACTERIZATION OF VARIANT CMT2W GLN-137;
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.