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UniProtKB/Swiss-Prot Q9H3H1: Variant p.Arg323Gln

tRNA dimethylallyltransferase
Gene: TRIT1
Variant information

Variant position:  323
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 323 (R323Q, p.Arg323Gln).
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 large size and basic (R) to medium size and polar (Q)
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

Involvement in disease:  Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873]: An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures. {ECO:0000269|PubMed:24901367, ECO:0000269|PubMed:28185376}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In COXPD35; reduced tRNA dimethylallyltransferase activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  323
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  467
The length of the canonical sequence.

Location on the sequence:   SNQLLKKGIEALKQVTKRYA  R KQNRWVKNRFLSRPGPIVPP
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                         SNQLLKKGIEALKQVTKRYARKQNRWVKNRFLS---RPGPIVPP

Mouse                         SNQLLKKGIEALKQVTKRYARKQNRWVKNRFLS---RPGPS

Baker's yeast                 NTVKLEDCIERMKTRTRQYAKRQVKWIKKMLIP------DI

Fission yeast                 SDIVFNDCLERMKVSTRQYAKSQKKWIQSRFLPMCLAQQDL

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 48 – 467 tRNA dimethylallyltransferase
Region 313 – 331 Interaction with substrate tRNA
Region 323 – 330 Interaction with substrate tRNA
Alternative sequence 311 – 336 Missing. In isoform 4.


Literature citations

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.
Yarham J.W.; Lamichhane T.N.; Pyle A.; Mattijssen S.; Baruffini E.; Bruni F.; Donnini C.; Vassilev A.; He L.; Blakely E.L.; Griffin H.; Santibanez-Koref M.; Bindoff L.A.; Ferrero I.; Chinnery P.F.; McFarland R.; Maraia R.J.; Taylor R.W.;
PLoS Genet. 10:E1004424-E1004424(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; INVOLVEMENT IN COXPD35; VARIANT COXPD35 GLN-323; CHARACTERIZATION OF VARIANT COXPD35 GLN-323;

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.