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UniProtKB/Swiss-Prot Q96I59: Variant p.Val213Phe

Probable asparagine--tRNA ligase, mitochondrial
Gene: NARS2
Variant information

Variant position:  213
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 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                         ELFQLEPSGKLKV------PEENFFNVPAFLTVSGQLHLEVMSGAFT

Mouse                         ELFQVEPSSKIKG------PKESFFDVPAFLTVSGQLHLEV

Slime mold                    EQFQIKSSLDTKE--------SMFFGQPSFLTVSGQLEAEI

Baker's yeast                 ELFQVSTNTSPTA--------SSYFGKPTYLTVSTQLHLEI

Fission yeast                 EVFTLTPQETHKNKSFERDDQKHFFDRPAFLTVSTQLHLEA

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.

TypePositionsDescription
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.