UniProtKB/SwissProt variant VAR

Variant information

Variant position:

511

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

Type of variant:

LB/B

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 Tryptophan (W) to Arginine (R) at position 511 (W511R, p.Trp511Arg).

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 aromatic (W) to large size and basic (R)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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

Other resources:

Links to websites of interest for the variant.

Variant rs11539471 [ dbSNP | Ensembl ]

Sequence information

Variant position:

511

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

Protein sequence length:

736

The length of the canonical sequence.

Location on the sequence:

AVLTDTTSLNQAALYRLSGD W NPLHIDPNFASLAGFDKPIL

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                         AVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPIL

Mouse                         AVLRDATSLNQAALYRLSGDWNPLHIDPDFASVAGFEKPIL

Rat                           AVLRDTTSLNQAALYRLSGDSNPLHIDPSFASIAGFEKPIL

Drosophila                    ATVQYTTSEDQAALYRLSGDKNPLHIDPQMALLAGFKTPIL

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.

Type	Positions	Description
Chain	1 – 736	Peroxisomal multifunctional enzyme type 2
Chain	312 – 736	Enoyl-CoA hydratase 2
Domain	484 – 600	MaoC-like
Region	322 – 622	Enoyl-CoA hydratase 2
Region	510 – 515	(3R)-3-hydroxydecanoyl-CoA binding
Mutagenesis	505 – 505	Y -> A. Completely inactive.
Mutagenesis	510 – 510	D -> A. No hydratase activity.
Mutagenesis	515 – 515	H -> A. Completely inactive.
Mutagenesis	517 – 517	D -> A. No effect.

Literature citations

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
van Grunsven E.G.; Mooijer P.A.; Aubourg P.; Wanders R.J.;
Hum. Mol. Genet. 8:1509-1516(1999)
Cited for: VARIANT DBPD TYR-457; VARIANT ARG-511;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51659: Variant p.Trp511Arg