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UniProtKB/Swiss-Prot P56192: Variant p.Arg727Gln

Methionine--tRNA ligase, cytoplasmic
Gene: MARS
Variant information

Variant position:  727
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 727 (R727Q, p.Arg727Gln).
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:  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:  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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  727
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  900
The length of the canonical sequence.

Location on the sequence:   SILTISRHGNQYIQVNEPWK  R IKGSEADRQRAGTVTGLAVN
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                         SILTISRHGNQYIQVNE-PWKRIKGSEADRQRAGTVTGLAVN

Mouse                         SILTISRHGNQYIQVNE-PWKRIKGGEMDRQRAGTVTGMAV

Bovine                        SILTISRHGNQYIQVNE-PWKRIKGGEADRQRAGTVTGLAV

Xenopus laevis                CILNISRHGNQYIQVNE-PWKCIKGNQQEQKRAGTVTGVAV

Caenorhabditis elegans        TILNVSRLGNQYMQAQT-PWVLMKKDEEGKKRAGTIIGVAA

Slime mold                    IAMSISKLGNTYMQDNK-PWDLS---GKDNERCGQVLAILI

Baker's yeast                 IAMSLSARGNQFLQENKLDNTLF---SQSPEKSDAVVAVGL

Fission yeast                 LAMEISARGNQYLQDNRIDNKCY---LYERQKCADAIGYAL

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.

TypePositionsDescription
Chain 1 – 900 Methionine--tRNA ligase, cytoplasmic
Alternative sequence 547 – 900 Missing. In isoform 2.
Helix 724 – 727


Literature citations

Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Reunion island.
Hadchouel A.; Wieland T.; Griese M.; Baruffini E.; Lorenz-Depiereux B.; Enaud L.; Graf E.; Dubus J.C.; Halioui-Louhaichi S.; Coulomb A.; Delacourt C.; Eckstein G.; Zarbock R.; Schwarzmayr T.; Cartault F.; Meitinger T.; Lodi T.; de Blic J.; Strom T.M.;
Am. J. Hum. Genet. 96:826-831(2015)
Cited for: VARIANTS ILLD CYS-344; THR-393; LEU-567 AND VAL-605; VARIANTS LEU-206 AND GLN-727;

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.