UniProtKB/Swiss-Prot P54577: Variant p.Pro213Leu

Tyrosine--tRNA ligase, cytoplasmic
Gene: YARS1
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Variant information Variant position:

213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Proline (P) to Leucine (L) at position 213 (P213L, p.Pro213Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

In IMNEPD2; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1553123702 [ dbSNP | Ensembl ]

Sequence information Variant position:

213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

528 The length of the canonical sequence.
Location on the sequence:

TFAEKYLPALGYSKRVHLMN P MVPGLTGSKMSSSEEESKID 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                         TFAEKYLPALGYSKRVHLMNPMVPGLT-GSKMSSS-EEESKID

Mouse                         TFAEKYLPALGYSKRVHLMNPMVPGLT-GSKMSSS-EEESK

Rat                           TFAEKYLPTLGYSKRVHLMNPMVPGLT-GSKMSSS-EEESK

Bovine                        TFAEKYLPALGYSKRIHLMNPMVPGLT-GSKMSSS-EEESK

Chicken                       TFAEKYLPSLGYAKRIHLMNPMVPGLT-GSKMSSS-EEDSK

Xenopus laevis                TFAEKYLPALGYAKRIHLMNPMVPGLT-GAKMSSS-EEESK

Xenopus tropicalis            TFAEKYLPALGYAKRIHLMNPMVPGLT-GAKMSSS-EEESK

Zebrafish                     TLAEKYLPSLGYTKRSHLMNPMVPGLT-GSKMSSS-EEESK

Baker's yeast                 VLAEENLPSLGYKKRAHLMNPMVPGLAQGGKMSAS-DPNSK

Fission yeast                 VMAEEVLPVLGYKKRGHLMNPMVPSLA-GGKMSSSAAANAK

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	1 – 528	Tyrosine--tRNA ligase, cytoplasmic
Chain	2 – 528	Tyrosine--tRNA ligase, cytoplasmic, N-terminally processed
Modified residue	197 – 197	N6-acetyllysine
Modified residue	205 – 205	Phosphoserine
Modified residue	206 – 206	N6-acetyllysine

Literature citations
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.
Nowaczyk M.J.; Huang L.; Tarnopolsky M.; Schwartzentruber J.; Majewski J.; Bulman D.E.; Hartley T.; Boycott K.M.;
Am. J. Med. Genet. A 173:126-134(2017)
Cited for: VARIANTS IMNEPD2 LEU-213 AND ARG-525; INVOLVEMENT IN IMNEPD2;

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.