Home  |  Contact

UniProtKB/Swiss-Prot P26440: Variant p.Arg53Pro

Isovaleryl-CoA dehydrogenase, mitochondrial
Gene: IVD
Variant information

Variant position:  53
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 Arginine (R) to Proline (P) at position 53 (R53P, p.Arg53Pro).
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 (P)
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 IVA.
Any additional useful information about the variant.

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



Sequence information

Variant position:  53
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  426
The length of the canonical sequence.

Location on the sequence:   HSLLPVDDAINGLSEEQRQL  R QTMAKFLQEHLAPKAQEIDR
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                         HSLLPV--DDAINGL--SEEQRQLRQTMAKFLQEHLAPKAQEIDR

Mouse                         HSILPV--DDDINGL--NEEQKQLRHTISKFLQENLAPKAQ

Rat                           HSMLPV--DDDINGL--NEEQKQLRHTISKFVQENLAPKAQ

Bovine                        NSLLPV--DDAVNGL--NEEQKQLRQTVAKFLQEHLAPQAQ

Caenorhabditis elegans        SSLLPATTSSTVKHMIYDEPHFAMQNSLAKLIKEKINPNVA

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 33 – 426 Isovaleryl-CoA dehydrogenase, mitochondrial
Modified residue 58 – 58 N6-acetyllysine; alternate
Modified residue 58 – 58 N6-succinyllysine; alternate
Modified residue 67 – 67 N6-acetyllysine; alternate
Modified residue 67 – 67 N6-succinyllysine; alternate
Alternative sequence 52 – 81 Missing. In isoform 2.
Helix 47 – 63


Literature citations

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.
Mohsen A.-W.A.; Anderson B.D.; Volchenboum S.L.; Battaile K.P.; Tiffany K.A.; Roberts D.L.; Kim J.-J.P.; Vockley J.;
Biochemistry 37:10325-10335(1998)
Cited for: VARIANTS IVA PRO-53; ASN-72; VAL-314; ARG-360; ALA-374; CYS-395 AND LEU-414;

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.