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UniProtKB/Swiss-Prot P09622: Variant p.Ile393Thr

Dihydrolipoyl dehydrogenase, mitochondrial
Gene: DLD
Variant information

Variant position:  393
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 Isoleucine (I) to Threonine (T) at position 393 (I393T, p.Ile393Thr).
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 (I) to medium size and polar (T)
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 DLDD.
Any additional useful information about the variant.

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



Sequence information

Variant position:  393
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  509
The length of the canonical sequence.

Location on the sequence:   CVEGMAGGAVHIDYNCVPSV  I YTHPEVAWVGKSEEQLKEEG
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                         CVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEG

                              CVEGMAGGAVPIDYNCVPSVIYTHPEVAWVGKSEEQLKEEG

Mouse                         CVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEG

Rat                           CVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEG

Pig                           CVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEG

Caenorhabditis elegans        CVEGIAGGPVHIDYNCVPSVVYTHPEVAWVGKAEEQLKQEG

Slime mold                    IIEQIHNGGGHVNYGAIPSIIYTHPEVAWVGKTEEELQKEG

Baker's yeast                 AVEMLKTGHGHVNYNNIPSVMYSHPEVAWVGKTEEQLKEAG

Fission yeast                 AVEYIAKGQGHVNYNCIPAVMYTHPEVAWVGITEQKAKESG

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 36 – 509 Dihydrolipoyl dehydrogenase, mitochondrial
Modified residue 410 – 410 N6-acetyllysine; alternate
Modified residue 410 – 410 N6-succinyllysine; alternate
Mutagenesis 383 – 383 H -> A. Reduces dihydrolipoyl dehydrogenase activity.
Mutagenesis 383 – 383 H -> L. Reduces dihydrolipoyl dehydrogenase activity.
Beta strand 391 – 393


Literature citations

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
Grafakou O.; Oexle K.; van den Heuvel L.; Smeets R.; Trijbels F.; Goebel H.H.; Bosshard N.; Superti-Furga A.; Steinmann B.; Smeitink J.;
Eur. J. Pediatr. 162:714-718(2003)
Cited for: VARIANT DLDD THR-393;

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.