UniProtKB/Swiss-Prot Q9NSE4 : Variant p.Glu708Lys
Isoleucine--tRNA ligase, mitochondrial
Gene: IARS2
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Variant information
Variant position:
708
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 Glutamate (E) to Lysine (K) at position 708 (E708K, p.Glu708Lys).
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 acidic (E) to large size and basic (K)
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:
Found in a patient with Leigh syndrome; uncertain significance.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
708
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
1012
The length of the canonical sequence.
Location on the sequence:
EPPYGADVLRWWVADSNVFT
E VAIGPSVLNAARDDISKLRN
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 EPPYGADVLRWWVADSNVFTE VAIGPSVLNAARDDISKLRN
Mouse EPPYGADILRWWIAESNVFTE VTIGPSVLSAARDDISKLRN
Chicken DPPYGADVLRWWVAESNVFTE VLIGPVVLNAARDDINKLRN
Slime mold NPPYGVDLLRTWVASSDYSKD ISIGPNILIKILDGIKKIRN
Baker's yeast -PALGVDGLRYLIAQSNFTTD IVAGPTVMKHVGEALKKVRL
Fission yeast KLPYGVDLLRLWVASCDSTND TNLGPNILTQVGESLKKWRL
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
49 – 1012
Isoleucine--tRNA ligase, mitochondrial
Modified residue
725 – 725
N6-acetyllysine
Literature citations
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Schwartzentruber J.; Buhas D.; Majewski J.; Sasarman F.; Papillon-Cavanagh S.; Thiffaut I.; Sheldon K.M.; Massicotte C.; Patry L.; Simon M.; Zare A.S.; McKernan K.J.; Michaud J.; Boles R.G.; Deal C.L.; Desilets V.; Shoubridge E.A.; Samuels M.E.;
Hum. Mutat. 35:1285-1289(2014)
Cited for: INVOLVEMENT IN CAGSSS; VARIANT CAGSSS LEU-909; VARIANT LYS-708;
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.