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UniProtKB/Swiss-Prot Q96I59: Variant p.Val213Phe

Asparaginyl-tRNA synthetase
Gene: NARS2
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Variant information Variant position: help 213
Type of variant: help US
Residue change: help From Valine (V) to Phenylalanine (F) at position 213 (V213F, p.Val213Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to large size and aromatic (F)
BLOSUM score: help -1
Variant description: help In DFNB94; uncertain significance; unable to rescue mitochondrial respiratory chain defects in NARS2 null fibroblasts; does not affect homodimerization; does not affect localization to mitochondrion.
Other resources: help


Sequence information Variant position: help 213
Protein sequence length: help 477
Location on the sequence: help ELFQLEPSGKLKVPEENFFN V PAFLTVSGQLHLEVMSGAFT
Residue conservation: help 
Human                         ELFQLEPSGKLKV------PEENFFNVPAFLTVSGQLHLEVMSGAFT

Mouse                         ELFQVEPSSKIKG------PKESFFDVPAFLTVSGQLHLEV

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

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

Fission yeast                 EVFTLTPQETHKNKSFERDDQKHFFDRPAFLTVSTQLHLEA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 15 – 477 Asparaginyl-tRNA synthetase
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.