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UniProtKB/Swiss-Prot P03915: Variant p.Asn447Ser

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

Variant position:  447
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Asparagine (N) to Serine (S) at position 447 (N447S, p.Asn447Ser).
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 (N) to small size and polar (S)
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

Involvement in disease:  Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269|PubMed:12509858, ECO:0000269|PubMed:15767514, ECO:0000269|PubMed:17400793, ECO:0000269|PubMed:20818383}. 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:  Detected in a patient with mitochondrial complex I deficiency; uncertain pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  447
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:   ILLTLTGQPRFPTLTNINEN  N PTLLNPIKRLAAGSLFAGFL
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                         ILLTLTGQPR--FPTLTNINENNPTLLNPIKRLAAGSLFAGFL

Gorilla                       ILLTLTGQPR--FPTFANINENYSTLLNPIKRLTIGSLFAG

                              MFFALLGQPR--FSPMILINENNPLLINSIKRLLIGSVFAG

Chimpanzee                    ILLTLTGQPR--FPTLTNINENNPTLLNPIKRLTIGSLFAG

Mouse                         IYFVTMTKPR--FPPLISINENDPDLMNPIKRLAFGSIFAG

Rat                           IYFVTMTKPR--YSPLITINENNPNLINPIKRLALGSILAG

Pig                           IFFAFLGKPR--FPPLVLINENNPLLINSIKRLLIGSIFAG

Bovine                        IFFALLGQPR--FPTLVNINENNPLLINSIKRLLIGSLFAG

Rabbit                        IFFALLGQPR--YPALIVINENNPLLINSIKRLALGSIFAG

Sheep                         IFFALLGQPR--FPTLININENNPFLINSIKRLLIGSLFAG

Cat                           MFFVLLGQPR--FNTLNLINENNTHLINSIKRLLIGSIFAG

Horse                         IFFALLGQPR--FLPLTSINENNPFLINSIKRLLIGSIFAG

Chicken                       TLLVQTGHTR--TPSNHPINENTPPAILPIMRLALGSIMAG

                              ILLTLMGQPR--FPTLTNINENNPTLLNPIKRLTIGSLFAG

Xenopus laevis                IFFASMGHPR--SNPLSPINENNKTVINPIKRLAWGSIVAG

Zebrafish                     IYLVCLGSPR--HKTYETIDENHIPT-NTIQRLAWGSIIAG

Caenorhabditis elegans        WKSFFLSFNK-------VMNHYSSTVFMNFLSLVLVIFSIS

Drosophila                    VYYSMTGDLN--CGSLNMLNDESWIMLRGMMGLLIMSIIGG

Slime mold                    LILTFFNKPRMQYKTIAGVHEASTNMVIPLVILALCSIFIG

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


Literature citations

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo S.E.; Tucker E.J.; Compton A.G.; Kirby D.M.; Crawford G.; Burtt N.P.; Rivas M.; Guiducci C.; Bruno D.L.; Goldberger O.A.; Redman M.C.; Wiltshire E.; Wilson C.J.; Altshuler D.; Gabriel S.B.; Daly M.J.; Thorburn D.R.; Mootha V.K.;
Nat. Genet. 42:851-858(2010)
Cited for: VARIANTS MT-C1D LEU-124; ALA-253 AND ASN-393; VARIANT SER-447;

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.