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UniProtKB/Swiss-Prot Q96HY7: Variant p.Ile607Met

Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
Gene: DHTKD1
Variant information

Variant position:  607
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Isoleucine (I) to Methionine (M) at position 607 (I607M, p.Ile607Met).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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.



Sequence information

Variant position:  607
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  919
The length of the canonical sequence.

Location on the sequence:   FNVRLSGQDVGRGTFSQRHA  I VVCQETDDTYIPLNHMDPNQ
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                         FNVRLSGQDVGRGTFSQRHAIVVCQETDDTYIPLNHMDPNQ

Mouse                         FNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHMDPNQ

Rat                           FNVRLSGQDVGRGTFSQRHAMVVCQNTDDVYIPLNHMDPNQ

Xenopus laevis                FNIRISGQDVGRGTFSQRHAMLVCQETNDTYIPLNHMTPDQ

Zebrafish                     FNIRISGQDVGRGTFSQRHAMVVCQETNDMFIPLNHISSEQ

Caenorhabditis elegans        NDVRISGQDVGRGTFCHRHAMMVDQSTDHIHIPLNELVEEQ

Drosophila                    HNVRISGEDVGRGTFSHRHAMLVDQQTNEMFIPLNSMEGGN

Slime mold                    YNVRISGQDVGRGTFSQRHFNLTEQNSDRIYQPLNNM--GA



Literature citations

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]; VARIANTS LEU-20; ASP-272; LEU-308 AND MET-607;

Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Kikuno R.; Nakayama M.; Hirosawa M.; Ohara O.;
DNA Res. 7:273-281(2000)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-886; VARIANTS LEU-20; ASP-272 AND MET-607;

The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 380-919; VARIANT MET-607;

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.