UniProtKB/Swiss-Prot P03905: Variant p.Met294Thr

NADH-ubiquinone oxidoreductase chain 4
Gene: MT-ND4
Chromosomal location: M
Variant information

Variant position:  294
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Methionine (M) to Threonine (T) at position 294 (M294T, p.Met294Thr).
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 hydrophobic (M) to medium size and polar (T)
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



Sequence information

Variant position:  294
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  459
The length of the canonical sequence.

Location on the sequence:   SICLRQTDLKSLIAYSSISH  M ALVVTAILIQTPWSFTGAVI
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                         SICLRQTDLKSLIAYSSISHMALVVTAILIQTP-WSFTGAVI

Gorilla                       SISLRQTDLKSLIAYSSISHMALVVAAILIQTP-WSFTGAV

Chimpanzee                    SICLRQTDLKSLIAYPSVSHMALVVTAILIQTP-WSFTGAI

Mouse                         SICLRQTDLKSLIAYSSVSHMALVIASIMIQTP-WSFMGAT

Rat                           SICLRQTDLKSLIAYSSVSHMALVITAIMIQTP-WSFMGAT

Pig                           SICLRQTDLKSLIAYSSVSHMALVIVAIMIQTP-WSFMGAT

Bovine                        SICLRQTDLKSLIAYSSVSHMALVIVAILIQTP-WSYMGAT

Rabbit                        SICLRQTDLKSLIAYSSVSHMALVIVAILIQTP-WSFMGAT

Sheep                         SICLRQTDLKSLIAYSSVSHMALVIVAILIQTP-WSYMGAT

Cat                           SICLRQTDLKSLIAYSSVSHMALVIVAVLIQTP-WSYMGAT

Dog                           SICLRQTDLKSLIAYSSVSHMALVIVAVLIQTP-WSYMGAT

Horse                         SICLRQTDLKSLIAYSSVSHMALVIVAVLIQTP-WSYMGAT

Chicken                       SICLRQTDLKSLIAYSSVSHMGLVIAASMIQTQ-WSFSGAM

Xenopus laevis                SICLRQTDLKSMIAYSSVSHMGLVISAGNNQTPMKALTGAM

Zebrafish                     LVCLRQTDLKSLIAYSSVGHMGLVAGGILIQTP-WGFTGAI

Caenorhabditis elegans        FCCVFQSDSKALAAYSSVTHMSFLLLSLVFITM-SSKISSV

Drosophila                    LVCLRQTDLKALIAYSSVAHMGIVLSGLLTMTY-WGLCGSY

Slime mold                    IATLTQLDVKRIVAYSSISHMNVIVLGLFSGVL-QGIEGGI

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.

TypePositionsDescription
Chain 1 – 459 NADH-ubiquinone oxidoreductase chain 4
Transmembrane 284 – 303 Helical;


Literature citations

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS PRO-79; PRO-109; THR-132 AND THR-294;

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.