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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15046: Variant p.Pro505Ser

Lysine--tRNA ligase
Gene: KARS1
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Variant information Variant position: help 505 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 Proline (P) to Serine (S) at position 505 (P505S, p.Pro505Ser). 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 hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In DEAPLE; decreases tRNA-lysine aminoacylation; slightly induces protein aggregation; no effect on cytoplasmic location; no effect on oligomerization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 505 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 597 The length of the canonical sequence.
Location on the sequence: help RFELFVMKKEICNAYTELND P MRQRQLFEEQAKAKAAGDDE 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.
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 2 – 597 Lysine--tRNA ligase
Binding site 497 – 497
Binding site 501 – 501
Helix 505 – 520



Literature citations
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
Zhou X.L.; He L.X.; Yu L.J.; Wang Y.; Wang X.J.; Wang E.D.; Yang T.;
Hum. Mutat. 38:1740-1750(2017)
Cited for: INVOLVEMENT IN DEAPLE; VARIANTS DEAPLE HIS-477 AND SER-505; CHARACTERIZATION OF VARIANTS DEAPLE HIS-477 AND SER-505; MUTAGENESIS OF ASP-346; SUBCELLULAR LOCATION; FUNCTION; COMPONENT OF A SUBUNIT COMPLEX; SUBUNIT; 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.