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UniProtKB/Swiss-Prot Q15031: Variant p.Ala430Val

Probable leucine--tRNA ligase, mitochondrial
Gene: LARS2
Variant information

Variant position:  430
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 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:  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:  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

Involvement in disease:  Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) [MIM:617021]: A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease. {ECO:0000269|PubMed:26537577}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In HLASA; decreased leucine-tRNA ligase activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  430
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  903
The length of the canonical sequence.

Location on the sequence:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SSAEFTGMTRQDAFLALTQKARGKRVGGDVTSDKLKDWLIS

Mouse                         GSAEFTGMTRQDAFVALTRKARGMRVGGHVTSNKLKDWLIS

Slime mold                    NSGQDTGIEF----KEFIKRLEDQQLIKRQTNYRIHDWLIS

Baker's yeast                 ECGEHSGVLTVVARKSIMGMLNSEGLSKSVVRYKIRDWLIS

Fission yeast                 --SNLMDIKQKMLQQKIVSYLEEKKLAKRVKNYRLKDWLIS



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;

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.