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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15031: Variant p.Ala430Val

Leucine--tRNA ligase, mitochondrial
Gene: LARS2
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Variant information Variant position: help 430 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 Alanine (A) to Valine (V) at position 430 (A430V, p.Ala430Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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 HLASA; decreased leucine-tRNA ligase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 430 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 903 The length of the canonical sequence.
Location on the sequence: help SSAEFTGMTRQDAFLALTQK A RGKRVGGDVTSDKLKDWLIS 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                         SSAEFTGMTRQDAFLALTQKARGKRVGGDVTSDKLKDWLIS

Mouse                         GSAEFTGMTRQDAFVALTRKARGMRVGGHVTSNKLKDWLIS

Slime mold                    NSGQDTGIE----FKEFIKRLEDQQLIKRQTNYRIHDWLIS

Baker's yeast                 ECGEHSGVLTVVARKSIMGMLNSEGLSKSVVRYKIRDWLIS

Fission yeast                 -SSNLMDIKQKMLQQKIVSYLEEKKLAKRVKNYRLKDWLIS


Literature citations
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Riley L.G.; Rudinger-Thirion J.; Schmitz-Abe K.; Thorburn D.R.; Davis R.L.; Teo J.; Arbuckle S.; Cooper S.T.; Campagna D.R.; Frugier M.; Markianos K.; Sue C.M.; Fleming M.D.; Christodoulou J.;
JIMD Rep. 28:49-57(2016)
Cited for: INVOLVEMENT IN HLASA; VARIANTS HLASA VAL-430 AND ASN-522; CHARACTERIZATION OF VARIANT HLASA VAL-430 AND ASN-522; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES;
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.