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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03897: Variant p.Ala47Thr

NADH-ubiquinone oxidoreductase chain 3
Gene: MT-ND3
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Variant information Variant position: help 47 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Alanine (A) to Threonine (T) at position 47 (A47T, p.Ala47Thr). 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: help Change from small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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
Variant description: help In LS and MC1DM1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 47 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 115 The length of the canonical sequence.
Location on the sequence: help LNGYMEKSTPYECGFDPMSP A RVPFSMKFFLVAITFLLFDL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LN-GYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDL

Gorilla                       LN-SYMEKTNPYECGFDPVSPARIPFSMKFFLVAITFLLFD

                              LN-IYTDKTSPYECGFDPMGSARLPFSMKFFLVAITFLLFD

Chimpanzee                    LN-SYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFD

Mouse                         MN-LYSEKANPYECGFDPTSSARLPFSMKFFLVAITFLLFD

Rat                           MN-LYSEKANPYECGFDPTSSARLPFSMKFFLVAITFLLFD

Pig                           LN-AYSEKTSPYECGFDPMGSARLPFSMKFFLVAITFLLFD

Bovine                        LN-VYSEKTSPYECGFDPMGSARLPFSMKFFLVAITFLLFD

Rabbit                        LN-IYSEKSSPYECGFDPMGSARLPFSMKFFLVAITFLLFD

Sheep                         LN-VYSEKTSPYECGFDPMGSARLPFSMKFFLVAITFLLFD

Cat                           LN-IYAEKASPYECGFDPMGSARLPFSMKFFLVAITFLLFD

Horse                         LN-IYAEKTSPYECGFDPMGSARLPFSMKFFLVAITFLLFD

Chicken                       MA-PDTEKLSPYECGFDPLGSARLPFSIRFFLVAILFLLFD

Xenopus laevis                MT-PDMEKLSPYECGFDPLGSMRLPFSMRFFLIAILFLLFD

Zebrafish                     MN-SDTEKLSPYECGFDPLGSARLPFSLRFFLVAVLFPLFD

Caenorhabditis elegans        KD-MGKNKISAFECGFVSVGKIQNSFSIHFFIMMLMFVIFD

Drosophila                    KALIDREKSSPFECGFDPKSSSRLPFSLRFFLITIIFLIFD

Slime mold                    KV-AYEDKLMGYECGFDPFGNARGEFDIRFYLVAILFLIFD
Sequence annotation in neighborhood: help 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 – 115 NADH-ubiquinone oxidoreductase chain 3



Literature citations
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
Sarzi E.; Brown M.D.; Lebon S.; Chretien D.; Munnich A.; Rotig A.; Procaccio V.;
Am. J. Med. Genet. A 143:33-41(2007)
Cited for: VARIANT LS THR-47; 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 MC1DM1 PRO-34; PRO-45 AND THR-47;
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.