UniProtKB/Swiss-Prot P30084: Variant p.Thr75Ile

Enoyl-CoA hydratase, mitochondrial
Gene: ECHS1
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Variant information Variant position:

75 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 Threonine (T) to Isoleucine (I) at position 75 (T75I, p.Thr75Ile). 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 medium size and polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Other resources:

Links to websites of interest for the variant.

Variant rs1049951 [ dbSNP | Ensembl ]

Sequence information Variant position:

75 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

290 The length of the canonical sequence.
Location on the sequence:

PKALNALCDGLIDELNQALK T FEEDPAVGAIVLTGGDKAFA 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                         PKALNALCDGLIDELNQALKTFEEDPAVGAIVLTGGDKAFA

Mouse                         PKALNALCNGLIEELNQALETFEQDPAVGAIVLTGGDKAFA

Rat                           PKALNALCNGLIEELNQALETFEEDPAVGAIVLTGGEKAFA

Bovine                        PKALNALCNGLIVELNQALQAFEEDPAVGAIVLTGGEKVFA

Caenorhabditis elegans        PKALNALCAQLMTELADALEVLDTDKSVGAIVITGSERAFA

Slime mold                    PKSLNALSDGLISEINSAVKLFQEDKDVGSIIITGSEKAFA

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	28 – 290	Enoyl-CoA hydratase, mitochondrial
Helix	63 – 78

Literature citations
Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase.
Kanazawa M.; Ohtake A.; Abe H.; Yamamoto S.; Satoh Y.; Takayanagi M.; Niimi H.; Mori M.; Hashimoto T.;
Enzyme Protein 47:9-13(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ALA-11 AND ILE-75; Human mitochondrial enoyl-CoA hydratase gene (ECHS1): structural organization and assignment to chromosome 10q26.2-q26.3.
Janssen U.; Davis E.M.; le Beau M.M.; Stoffel W.;
Genomics 40:470-475(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-11 AND ILE-75; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ILE-75; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ILE-75; Human ERp29: isolation, primary structural characterisation and two-dimensional gel mapping.
Hubbard M.J.; McHugh N.J.;
Electrophoresis 21:3785-3796(2000)
Cited for: PROTEIN SEQUENCE OF 57-63; 75-92 AND 158-178; VARIANT ILE-75; IDENTIFICATION BY MASS SPECTROMETRY;

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.