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UniProtKB/Swiss-Prot P11310: Variant p.Arg206Leu

Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
Gene: ACADM
Variant information

Variant position:  206
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 Leucine (L) at position 206 (R206L, p.Arg206Leu).
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 hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In ACADMD.
Any additional useful information about the variant.

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



Sequence information

Variant position:  206
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  421
The length of the canonical sequence.

Location on the sequence:   NGQKMWITNGGKANWYFLLA  R SDPDPKAPANKAFTGFIVEA
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                         NGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEA

Chimpanzee                    NGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEA

Mouse                         NGQKMWITNGGKANWYFLLARSNPDPKVPASKAFTGFIVEA

Rat                           NGQKMWITNGGKANWYFVLTRSNPDPKVPASKAFTGFIVEA

Pig                           NGQKMWITNGGKANWYFLLARSDPDPKAPASKAFTGFIVEA

Bovine                        NGQKMWITNGGKANWYFLLARSDPDPKAPASKAFTGFIVEA

Caenorhabditis elegans        NGSKAWITGGGHAKWFFVLARSDPNPKTPAGKAFTAFIVDG

Drosophila                    NGQKMWITNGGVANWYFVLARTNPDPKCPPSKAFTGFIVER

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 26 – 421 Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
Binding site 216 – 216 Substrate
Modified residue 212 – 212 N6-acetyllysine; alternate
Modified residue 212 – 212 N6-succinyllysine; alternate
Modified residue 217 – 217 N6-acetyllysine; alternate
Modified residue 217 – 217 N6-succinyllysine; alternate
Mutagenesis 191 – 191 W -> A. Loss of electron transfer to ETF.
Mutagenesis 191 – 191 W -> F. Reduces rate of electron transfer to ETF about six-fold.
Beta strand 198 – 206


Literature citations

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Yang B.-Z.; Ding J.-H.; Zhou C.; Dimachkie M.M.; Sweetman L.; Dasouki M.J.; Wilkinson J.; Roe C.R.;
Mol. Genet. Metab. 69:259-262(2000)
Cited for: VARIANTS ACADMD LEU-206 AND GLU-329;

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.