UniProtKB/Swiss-Prot Q96I59 : Variant p.Val213Phe
Probable asparagine--tRNA ligase, mitochondrial
Gene: NARS2
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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:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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 Valine (V) to Phenylalanine (F) at position 213 (V213F, p.Val213Phe).
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 medium size and hydrophobic (V) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-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:
In DFNB94; probable loss-of-function variant; unable to rescue mitochondrial respiratory chain defects in NARS2 null fibroblasts; does not affect homodimerization; does not affect localization to mitochondrion.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
213
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
477
The length of the canonical sequence.
Location on the sequence:
ELFQLEPSGKLKVPEENFFN
V PAFLTVSGQLHLEVMSGAFT
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 ELFQLEPSGKLKVPE------ENFFNV PAFLTVSGQLHLEVMSGAFT
Mouse ELFQVEPSSKIKGPK------ESFFDV PAFLTVSGQLHLEV
Slime mold EQFQIKSSLDTKESM--------FFGQ PSFLTVSGQLEAEI
Baker's yeast ELFQVSTNTSPTASS--------YFGK PTYLTVSTQLHLEI
Fission yeast EVFTLTPQETHKNKSFERDDQKHFFDR PAFLTVSTQLHLEA
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
15 – 477
Probable asparagine--tRNA ligase, mitochondrial
Alternative sequence
1 – 227
Missing. In isoform 2.
Literature citations
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Simon M.; Richard E.M.; Wang X.; Shahzad M.; Huang V.H.; Qaiser T.A.; Potluri P.; Mahl S.E.; Davila A.; Nazli S.; Hancock S.; Yu M.; Gargus J.; Chang R.; Al-Sheqaih N.; Newman W.G.; Abdenur J.; Starr A.; Hegde R.; Dorn T.; Busch A.; Park E.; Wu J.; Schwenzer H.; Flierl A.; Florentz C.; Sissler M.; Khan S.N.; Li R.; Guan M.X.; Friedman T.B.; Wu D.K.; Procaccio V.; Riazuddin S.; Wallace D.C.; Ahmed Z.M.; Huang T.; Riazuddin S.;
PLoS Genet. 11:E1005097-E1005097(2015)
Cited for: SUBCELLULAR LOCATION; SUBUNIT; INVOLVEMENT IN COXPD24; INVOLVEMENT IN DFNB94; VARIANTS COXPD24 323-TYR--LEU-477 DEL AND SER-381; VARIANT DFNB94 PHE-213; CHARACTERIZATION OF VARIANT DFNB94 PHE-213; CHARACTERIZATION OF VARIANT COXPD24 SER-381;
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.