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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49591: Variant p.Arg390Cys

Serine--tRNA ligase, cytoplasmic
Gene: SARS1
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Variant information Variant position: help 390 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 Arginine (R) to Cysteine (C) at position 390 (R390C, p.Arg390Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 NEDMAS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 390 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 514 The length of the canonical sequence.
Location on the sequence: help NHAASKKLDLEAWFPGSGAF R ELVSCSNCTDYQARRLRIRY 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                         NHAASKKLDLEAWFPGSGAFRELVSCSNCTDYQARRLRIRY

Mouse                         NHAASKKLDLEAWFPGSGAFRELVSCSNCTDYQARRLRIRY

Rat                           NHAASKKLDLEAWFPGSGAFRELVSCSNCTDYQARRLRIRY

Bovine                        NHAASKKLDLEAWFPGSGAFRELVSCSNCTDYQARRLRIRY

Rabbit                        NHAASKKLDLEAWFPGSGAFRELVSCSNCTDYQARRLRIRY

Zebrafish                     NHAASKKLDLEAWFPGSQAFRELVSCSNCTDYQARRLRIRY

Caenorhabditis elegans        NNAAAKKFDLEAWFPGSGAYRELVSCSNCLDYQSRRLKVRY

Slime mold                    NNAASKKYDLEGWFPGYNQYRELVSCSNCTDYQSRDLEIRC

Baker's yeast                 NNAAAKKYDLEAWFPYQKEYKELVSCSNCTDYQSRNLEIRC

Fission yeast                 NNAAAKKYDLEAWFPFQGEYKELVSCSNCTDYQSRNLEIRC
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 1 – 514 Serine--tRNA ligase, cytoplasmic
Mutagenesis 378 – 378 D -> R. Retains nuclear location and abolishes enzyme activity; when associated with V-383.
Mutagenesis 383 – 383 F -> V. Abolishes nuclear location. Decreases enzyme activity. Retains nuclear location and abolishes enzyme activity; when associated with R-378.
Beta strand 388 – 397



Literature citations
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Boegershausen N.; Krawczyk H.E.; Jamra R.A.; Lin S.J.; Yigit G.; Huening I.; Polo A.M.; Vona B.; Huang K.; Schmidt J.; Altmueller J.; Luppe J.; Platzer K.; Doergeloh B.B.; Busche A.; Biskup S.; Mendes M.I.; Smith D.E.C.; Salomons G.S.; Zibat A.; Bueltmann E.; Nuernberg P.; Spielmann M.; Lemke J.R.; Li Y.; Zenker M.; Varshney G.K.; Hillen H.S.; Kratz C.P.; Wollnik B.;
Hum. Mutat. 43:1454-1471(2022)
Cited for: VARIANTS NEDMAS CYS-302 AND CYS-390;
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.