UniProtKB/SwissProt variant VAR

Variant information

Variant position:

50

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

Type of variant:

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:

From Phenylalanine (F) to Cysteine (C) at position 50 (F50C, p.Phe50Cys).

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 large size and aromatic (F) to medium size and polar (C)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

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:

In LKENP; deleterious only under stress conditions.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs587777590 [ dbSNP | Ensembl ]

Sequence information

Variant position:

50

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

Protein sequence length:

985

The length of the canonical sequence.

Location on the sequence:

LSSEPPAAKASAVRAAFLNF F RDRHGHRLVPSASVRPRGDP

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                         LSSEPPAAKASAVRAAFLNFFRDRHGHRLVPSASVRP-RGDP

Mouse                         FSTEPGPPHGAAVRDAFLSFFRDRHGHRLVPSATVRP-RGD

Rat                           FSTEPHPPHGAAVRDAFLSFFRDRHGHRLVPSASVRP-RGD

Caenorhabditis elegans        -----FYHSHSELRKSFYEFFKSKN-HEILRSSSVIPDEND

Drosophila                    --------TAREIRKTFLDHFTVNHGHKFVRSSPVVP-FCD

Slime mold                    LINRQYGTSTKEVRETFLNYF-EKNGHKRLPSGSLLP-YND

Sequence annotation in neighborhood:

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.

Type	Positions	Description
Chain	24 – 985	Alanine--tRNA ligase, mitochondrial

Literature citations

Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C.; Diodato D.; Kevelam S.H.; Haack T.B.; Wong L.J.; Salomons G.S.; Baruffini E.; Melchionda L.; Mariotti C.; Strom T.M.; Meitinger T.; Prokisch H.; Chapman K.; Colley A.; Rocha H.; Ounap K.; Schiffmann R.; Salsano E.; Savoiardo M.; Hamilton E.M.; Abbink T.E.; Wolf N.I.; Ferrero I.; Lamperti C.; Zeviani M.; Vanderver A.; Ghezzi D.; van der Knaap M.S.;
Neurology 82:2063-2071(2014)
Cited for: INVOLVEMENT IN LKENP; VARIANTS LKENP CYS-50; LYS-405 AND ARG-965; VARIANTS VAL-77; PHE-131 DEL; CYS-199 AND MET-730; CHARACTERIZATION OF VARIANT LKENP CYS-50;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5JTZ9: Variant p.Phe50Cys