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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P41250: Variant p.His472Arg

Glycine--tRNA ligase
Gene: GARS1
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Variant information Variant position: help 472 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 Histidine (H) to Arginine (R) at position 472 (H472R, p.His472Arg). 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 medium size and polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 HMND5; shows a large reduction in aminoacylation activity; does not complement the defect of the wild-type gene in yeast. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 472 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 739 The length of the canonical sequence.
Location on the sequence: help SYGWIEIVGCADRSCYDLSC H ARATKVPLVAEKPLKEPKTV 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                         SYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTV

Mouse                         SYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTV

Rat                           SYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTV

Caenorhabditis elegans        SYGWIECVGNADRACYDLQQHYKATNVKLVAEKKLPEPVDV

Drosophila                    SYGWVECVGCADRSAYDLGQHTAATGVRLVAEKRLPAPKTV

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 37 – 739 Glycine--tRNA ligase
Modified residue 453 – 453 Phosphotyrosine
Helix 467 – 476



Literature citations
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
Antonellis A.; Lee-Lin S.Q.; Wasterlain A.; Leo P.; Quezado M.; Goldfarb L.G.; Myung K.; Burgess S.; Fischbeck K.H.; Green E.D.;
J. Neurosci. 26:10397-10406(2006)
Cited for: SUBCELLULAR LOCATION; VARIANTS CMT2D GLY-125 AND ARG-294; CHARACTERIZATION OF VARIANTS CMT2D GLY-125 AND ARG-294; VARIANTS HMND5 PRO-183; ARG-472 AND ARG-580; CHARACTERIZATION OF VARIANTS HMND5 PRO-183; ARG-472 AND ARG-580; Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
Griffin L.B.; Sakaguchi R.; McGuigan D.; Gonzalez M.A.; Searby C.; Zuchner S.; Hou Y.M.; Antonellis A.;
Hum. Mutat. 35:1363-1371(2014)
Cited for: SUBCELLULAR LOCATION (ISOFORM 2); VARIANTS CMT2D VAL-111; ASN-200; PHE-265; ARG-294; LEU-298; PHE-334; ARG-472; ASN-554; ARG-580 AND ALA-652; VARIANT LEU-635; CHARACTERIZATION OF VARIANTS CMT2D VAL-111; GLY-125; PRO-183; ASN-200; PHE-265; ARG-294; LEU-298; PHE-334; ARG-472; ASN-554; ARG-580 AND ALA-652; CHARACTERIZATION OF VARIANT LEU-635; Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Schabhuettl M.; Wieland T.; Senderek J.; Baets J.; Timmerman V.; De Jonghe P.; Reilly M.M.; Stieglbauer K.; Laich E.; Windhager R.; Erwa W.; Trajanoski S.; Strom T.M.; Auer-Grumbach M.;
J. Neurol. 261:970-982(2014)
Cited for: VARIANT HMND5 ARG-472;
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.