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UniProtKB/Swiss-Prot Q96HY7: Variant p.Arg308Leu

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

Variant position:  308
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 Arginine (R) to Leucine (L) at position 308 (R308L, p.Arg308Leu).
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 (L)
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

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



Sequence information

Variant position:  308
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:   SHLEAVNPVAVGKTRGRQQS  R QDGDYSPDNSAQPGDRVICL
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                         SHLEAVNPVAVGKTRGRQQSRQDGDYSPDN-SAQPGDRVICL

Mouse                         SHLEAVNPVAVGKTRGRQQSREDGDYSPNG-SAQPGDKVIC

Rat                           SHLEAINPVAVGKTRGRQQSQEDGDYSPNG-SAQPGDKVIC

Xenopus laevis                SHLEAINPVAVGKTRARQQSLSDGDYSTES-SAQPGDKVVC

Zebrafish                     SHLEAINPVTQGKTRGRQQVKQDGDYSTDP-HSRPGDKVIC

Caenorhabditis elegans        SHLEAVNPVAMGKARARAWSMNKGDYSPDERSARAGDSVLN

Drosophila                    SHLEAANPVAMGKTRSKQQARGEGAFG-DG-SQPFGEHVLN

Slime mold                    SHLEAVDPVAAGKTRAKQF------YEKNE----GGSESLC



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;

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.