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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95363: Variant p.Tyr144Cys

Phenylalanine--tRNA ligase, mitochondrial
Gene: FARS2
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Variant information Variant position: help 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Tyrosine (Y) to Cysteine (C) at position 144 (Y144C, p.Tyr144Cys). 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: help Change from large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In COXPD14; results in decreased affinity for tRNA causing a decrease in the catalytic efficiency for tRNA charging; does not affect ATP or Phe binding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 451 The length of the canonical sequence.
Location on the sequence: help QNFDSLLIPADHPSRKKGDN Y YLNRTHMLRAHTSAHQWDLL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         QNFDSLLIPADHPSRKKGDNYYLNRTHMLRAHTSAHQ----WDLL

Mouse                         QNFDSLLIPADHPSRKKGDNYYLNRAHMLRAHTSAHQ----

Rat                           QNFDSLLIPADHPSRKKGDNYYLNRGHMLRAHTSAHQ----

Drosophila                    QNFDNLLIPADHVSRQKSDCYYINQQHLLRAHTTAHQ----

Slime mold                    ENFDELLFPVDHVGRSPNDTYYFSKDQLLRTHTSAHQ----

Baker's yeast                 ENFDSLGFPKDHPGRSKSDTYYINETHLLRTHTSAHELECF

Fission yeast                 TNFDSLGFPKTHVSRSKSDTYYMNNKTCLRTHTSAHQPEEF


Literature citations
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Elo J.M.; Yadavalli S.S.; Euro L.; Isohanni P.; Gotz A.; Carroll C.J.; Valanne L.; Alkuraya F.S.; Uusimaa J.; Paetau A.; Caruso E.M.; Pihko H.; Ibba M.; Tyynismaa H.; Suomalainen A.;
Hum. Mol. Genet. 21:4521-4529(2012)
Cited for: VARIANTS COXPD14 THR-329 AND VAL-391; CHARACTERIZATION OF VARIANTS COXPD14 CYS-144; THR-329 AND VAL-391; FUNCTION; CATALYTIC ACTIVITY; KINETIC PARAMETERS; Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
Shamseldin H.E.; Alshammari M.; Al-Sheddi T.; Salih M.A.; Alkhalidi H.; Kentab A.; Repetto G.M.; Hashem M.; Alkuraya F.S.;
J. Med. Genet. 49:234-241(2012)
Cited for: VARIANT COXPD14 CYS-144;
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.