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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03897: Variant p.Ser34Pro

NADH-ubiquinone oxidoreductase chain 3
Gene: MT-ND3
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Variant information Variant position: help 34 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 34 (S34P, p.Ser34Pro). 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 34 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 ALLLMIITFWLPQLNGYMEK S TPYECGFDPMSPARVPFSMK 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                         ALLLMIITFWLPQLN-GYMEKSTPYECGFDPMSPARVPFSMK

Gorilla                       ALLLMIITFWLPQLN-SYMEKTNPYECGFDPVSPARIPFSM

                              ASLLVLIAFWLPQLN-IYTDKTSPYECGFDPMGSARLPFSM

Chimpanzee                    ALLLMIITFWLPQLN-SYMEKSTPYECGFDPMSPARVPFSM

Mouse                         SLTLILVAFWLPQMN-LYSEKANPYECGFDPTSSARLPFSM

Rat                           SFILISIAFWLPQMN-LYSEKANPYECGFDPTSSARLPFSM

Pig                           ASLLVLIAFWLPQLN-AYSEKTSPYECGFDPMGSARLPFSM

Bovine                        ATLLVIIAFWLPQLN-VYSEKTSPYECGFDPMGSARLPFSM

Rabbit                        SLVLVTIAFWLPQLN-IYSEKSSPYECGFDPMGSARLPFSM

Sheep                         ATLLVTIAFWLPQLN-VYSEKTSPYECGFDPMGSARLPFSM

Cat                           STLLVLIAFWLPQLN-IYAEKASPYECGFDPMGSARLPFSM

Horse                         ASLLVLIAFWLPQLN-IYAEKTSPYECGFDPMGSARLPFSM

Chicken                       SAALTTMNFWLAQMA-PDTEKLSPYECGFDPLGSARLPFSI

Xenopus laevis                STILAILSFWLPQMT-PDMEKLSPYECGFDPLGSMRLPFSM

Zebrafish                     SLVLALVSFWLPQMN-SDTEKLSPYECGFDPLGSARLPFSL

Caenorhabditis elegans        LFAFYLINFLLSIKD-MGKNKISAFECGFVSVGKIQNSFSI

Drosophila                    TTIVMFLASILSKKALIDREKSSPFECGFDPKSSSRLPFSL

Slime mold                    SVILFFLGYFLMFKV-AYEDKLMGYECGFDPFGNARGEFDI
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
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
McFarland R.; Kirby D.M.; Fowler K.J.; Ohtake A.; Ryan M.T.; Amor D.J.; Fletcher J.M.; Dixon J.W.; Collins F.A.; Turnbull D.M.; Taylor R.W.; Thorburn D.R.;
Ann. Neurol. 55:58-64(2004)
Cited for: VARIANT MC1DM1 PRO-34; 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.