UniProtKB/SwissProt variant VAR

Variant information

Variant position:

226

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 Tyrosine (Y) to Histidine (H) at position 226 (Y226H, p.Tyr226His).

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 (Y) to medium size and polar (H)

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:

Found in a patient with Reye-like syndrome; loss of 3-hydroxyacyl-CoA dehydrogenase activity. Does not affect dimerization.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs146036912 [ dbSNP | Ensembl ]

Sequence information

Variant position:

226

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

Protein sequence length:

314

The length of the canonical sequence.

Location on the sequence:

KHPVSCKDTPGFIVNRLLVP Y LMEAIRLYERGDASKEDIDT

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.

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	13 – 314	Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
Modified residue	206 – 206	N6-succinyllysine
Modified residue	212 – 212	N6-acetyllysine; alternate
Modified residue	212 – 212	N6-succinyllysine; alternate
Modified residue	241 – 241	N6-acetyllysine; alternate
Modified residue	241 – 241	N6-succinyllysine; alternate
Alternative sequence	236 – 236	R -> RDFQTCGDSNSGLGFSLK. In isoform 2 and isoform 3.
Helix	219 – 235

Literature citations

Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase.
Bennett M.J.; Russell L.K.; Tokunaga C.; Narayan S.B.; Tan L.; Seegmiller A.; Boriack R.L.; Strauss A.W.;
Mol. Genet. Metab. 89:74-79(2006)
Cited for: VARIANTS GLY-57 AND HIS-226; CATALYTIC ACTIVITY; FUNCTION; CHARACTERIZATION OF VARIANTS GLY-57 AND HIS-226; BIOPHYSICOCHEMICAL PROPERTIES; SUBUNIT; PATHWAY;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16836: Variant p.Tyr226His