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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86WU2: Variant p.Thr463Met

Probable D-lactate dehydrogenase, mitochondrial
Gene: LDHD
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Variant information Variant position: help 463 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 Threonine (T) to Methionine (M) at position 463 (T463M, p.Thr463Met). 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 medium size and polar (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In DLACD; probable enzymatic loss-of-function; contrary to the wild-type protein, unable to restore basal D-lactate levels when tested in knockout zebrafish model. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 463 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 507 The length of the canonical sequence.
Location on the sequence: help RVKAFAEQLGRRALALHGTC T GEHGIGMGKRQLLQEEVGAV 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                         RVKAFAEQLGRRALALHGTCTGEHGIGMGKRQLLQEEVGAV

Mouse                         RVKAFAENLGRRALALGGTCTGEHGIGLGKRQLLQEEVGPV

Zebrafish                     RVHSFTERLARRALAMDGTCTGEHGIGLGKRALLREEVGPL

Slime mold                    SLQNFVDFRSNQ---------------IKKSNLVNNPISSQ
Sequence annotation in neighborhood: help 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 53 – 507 Probable D-lactate dehydrogenase, mitochondrial
Modified residue 445 – 445 N6-acetyllysine
Modified residue 472 – 472 N6-acetyllysine



Literature citations
Identification of human D lactate dehydrogenase deficiency.
Monroe G.R.; van Eerde A.M.; Tessadori F.; Duran K.J.; Savelberg S.M.C.; van Alfen J.C.; Terhal P.A.; van der Crabben S.N.; Lichtenbelt K.D.; Fuchs S.A.; Gerrits J.; van Roosmalen M.J.; van Gassen K.L.; van Aalderen M.; Koot B.G.; Oostendorp M.; Duran M.; Visser G.; de Koning T.J.; Cali F.; Bosco P.; Geleijns K.; de Sain-van der Velden M.G.M.; Knoers N.V.; Bakkers J.; Verhoeven-Duif N.M.; van Haaften G.; Jans J.J.;
Nat. Commun. 10:1477-1477(2019)
Cited for: INVOLVEMENT IN DLACD; VARIANTS DLACD CYS-374 AND MET-463; FUNCTION;
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.