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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15031: Variant p.Thr522Asn

Leucine--tRNA ligase, mitochondrial
Gene: LARS2
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Variant information Variant position: help 522 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 Threonine (T) to Asparagine (N) at position 522 (T522N, p.Thr522Asn). 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 Similar physico-chemical property. Both residues are medium size and polar. 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 PRLTS4 and HLASA; reduced activity; 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 522 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 VNCSCPRCKGAAKRETDTMD T FVDSAWYYFRYTDPHNPHSP 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                         VNCSCPRCKGAAKRETDTMDTFVDSAWYYFRYTDPHNPHSP

Mouse                         VNCSCPRCKGSAKRETDTMDTFVDSAWYYFRYTDPHNTQSP

Slime mold                    KNVKCPCCGSQATRETDTMDTFVDSSWYFLRFLDSKNSQSI

Baker's yeast                 VNVACPSCGSPAKRETDTMDTFIDSSWYYFRFLDPKNTSKP

Fission yeast                 MKTTCPKCHGPATRETDTMDTFVDSSWYYFRFLDSKNSELP



Literature citations
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
Pierce S.B.; Gersak K.; Michaelson-Cohen R.; Walsh T.; Lee M.K.; Malach D.; Klevit R.E.; King M.C.; Levy-Lahad E.;
Am. J. Hum. Genet. 92:614-620(2013)
Cited for: VARIANTS PRLTS4 ASN-522 AND MET-629; CHARACTERIZATION OF VARIANTS PRLTS4 ASN-522 AND MET-629; 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.