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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03897: Variant p.Ser45Pro

NADH-ubiquinone oxidoreductase chain 3
Gene: MT-ND3
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Variant information Variant position: help 45 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 Serine (S) to Proline (P) at position 45 (S45P, p.Ser45Pro). 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 polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In MC1DM1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 45 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 PQLNGYMEKSTPYECGFDPM S PARVPFSMKFFLVAITFLLF 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                         PQLN-GYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLF

Gorilla                       PQLN-SYMEKTNPYECGFDPVSPARIPFSMKFFLVAITFLL

                              PQLN-IYTDKTSPYECGFDPMGSARLPFSMKFFLVAITFLL

Chimpanzee                    PQLN-SYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLL

Mouse                         PQMN-LYSEKANPYECGFDPTSSARLPFSMKFFLVAITFLL

Rat                           PQMN-LYSEKANPYECGFDPTSSARLPFSMKFFLVAITFLL

Pig                           PQLN-AYSEKTSPYECGFDPMGSARLPFSMKFFLVAITFLL

Bovine                        PQLN-VYSEKTSPYECGFDPMGSARLPFSMKFFLVAITFLL

Rabbit                        PQLN-IYSEKSSPYECGFDPMGSARLPFSMKFFLVAITFLL

Sheep                         PQLN-VYSEKTSPYECGFDPMGSARLPFSMKFFLVAITFLL

Cat                           PQLN-IYAEKASPYECGFDPMGSARLPFSMKFFLVAITFLL

Horse                         PQLN-IYAEKTSPYECGFDPMGSARLPFSMKFFLVAITFLL

Chicken                       AQMA-PDTEKLSPYECGFDPLGSARLPFSIRFFLVAILFLL

Xenopus laevis                PQMT-PDMEKLSPYECGFDPLGSMRLPFSMRFFLIAILFLL

Zebrafish                     PQMN-SDTEKLSPYECGFDPLGSARLPFSLRFFLVAVLFPL

Caenorhabditis elegans        SIKD-MGKNKISAFECGFVSVGKIQNSFSIHFFIMMLMFVI

Drosophila                    SKKALIDREKSSPFECGFDPKSSSRLPFSLRFFLITIIFLI

Slime mold                    MFKV-AYEDKLMGYECGFDPFGNARGEFDIRFYLVAILFLI
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
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
Taylor R.W.; Singh-Kler R.; Hayes C.M.; Smith P.E.; Turnbull D.M.;
Ann. Neurol. 50:104-107(2001)
Cited for: VARIANT MC1DM1 PRO-45; 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.