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UniProtKB/Swiss-Prot P03915: Variant p.Glu145Gly

NADH-ubiquinone oxidoreductase chain 5
Gene: MT-ND5
Chromosomal location: M
Variant information

Variant position:  145
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Glutamate (E) to Glycine (G) at position 145 (E145G, p.Glu145Gly).
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 acidic (E) to glycine (G)
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

Involvement in disease:  Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. {ECO:0000269|PubMed:12509858, ECO:0000269|PubMed:15767514, ECO:0000269|PubMed:17400793, ECO:0000269|PubMed:9299505}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MELAS.
Any additional useful information about the variant.

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



Sequence information

Variant position:  145
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  603
The length of the canonical sequence.

Location on the sequence:   LITMLILVTANNLFQLFIGW  E GVGIMSFLLISWWYARADAN
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                         LITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADAN

Gorilla                       LITMLILVTANNLFQLFIGWEGVGIMSFLLIGWWYARTDAN

                              LITMMVLVTANNMFQLFIGWEGVGIMSFLLIGWWYGRTDAN

Chimpanzee                    LITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARTDAN

Mouse                         LITMLILTSANNMFQLFIGWEGVGIMSFLLIGWWYGRTDAN

Rat                           LITMLILTSANNLFQLFIGWEGVGIMSFLLIGWWYGRADAN

Pig                           LITMMILVTANNLFQLFIGWEGVGIMSFLLIGWWHGRTDAN

Bovine                        LITMLILVTANNLFQLFIGWEGVGIMSFLLIGWWYGRADAN

Rabbit                        LITMLILVTANNMFQLFIGWEGVGIMSFLLIGWWHGRTDAN

Sheep                         LITMLILVTANNLFQLFIGWEGVGIMSFLLIGWWYGRTDAN

Cat                           LITMMILVTANNLFQLFIGWEGVGIMSFLLIGWWYGRADAN

Horse                         LITMMILVTANNLFQLFIGWEGVGIMSFLLIGWWYGRTDAN

Chicken                       LIAMLTLTIANNMFLLFVGWEGVGIMSFLLIGWWQGRAEAN

                              LITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARTDAN

Xenopus laevis                LVAMVILVTANNFFQFFIGWEGVGIMSFLLIGWWYARAEPN

Zebrafish                     LMSMIILVTANNLFQLFIGWEGVGIMSFLLIGWWFGRTEAN

Caenorhabditis elegans        VGSMFSLNFSNSIFTMLLSWDLLGISSFFLV-LFYNNWDSC

Drosophila                    VLSMMLLIISPNLISILLGWDGLGLVSYCLV-IYFQNIKSY

Slime mold                    TFFMMLLVTADNFVQLFFGWEGVGIMSYLLINFWYTRLQAN

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 – 603 NADH-ubiquinone oxidoreductase chain 5
Transmembrane 144 – 160 Helical


Literature citations

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
Liolitsa D.; Rahman S.; Benton S.; Carr L.J.; Hanna M.G.;
Ann. Neurol. 53:128-132(2003)
Cited for: VARIANTS MT-C1D GLY-145 AND LEU-237;

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.