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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00217: Variant p.Glu63Gln

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
Gene: NDUFS8
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Variant information Variant position: help 63 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 Glutamate (E) to Glutamine (Q) at position 63 (E63Q, p.Glu63Gln). 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 medium size and acidic (E) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In MC1DN2; decrease in enzyme activity; impaired assembly of complex I. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 210 The length of the canonical sequence.
Location on the sequence: help DPEMDMKSVTDRAARTLLWT E LFRGLGMTLSYLFREPATIN 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                         DPEMDMKSVTDRAARTLLWTELFRGLGMTLSYLFREPATIN

Gorilla                       DPEMDMKSVTDRAARTLLWTELFRGLGMTLSYLFREPATIN

Chimpanzee                    DPEMDMKSVTDRAARTLLWTELFRGLGMTLSYLFREPATIN

Mouse                         ESEVDMKSATDNAARILMWTELIRGLGMTLSYLFREPATIN

Bovine                        EPSMDMKSVTDRAAQTLLWTELIRGLGMTLSYLFREPATIN

Caenorhabditis elegans        ETDGTLAGDLNYGLHNVFFTELFRGFGVMLGHVFMEPATIN

Drosophila                    ELSMEFADITDRAASTMFFGELLRGFAVTLAHIFKEPATIN
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 35 – 210 NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
Helix 63 – 76



Literature citations
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack T.B.; Haberberger B.; Frisch E.M.; Wieland T.; Iuso A.; Gorza M.; Strecker V.; Graf E.; Mayr J.A.; Herberg U.; Hennermann J.B.; Klopstock T.; Kuhn K.A.; Ahting U.; Sperl W.; Wilichowski E.; Hoffmann G.F.; Tesarova M.; Hansikova H.; Zeman J.; Plecko B.; Zeviani M.; Wittig I.; Strom T.M.; Schuelke M.; Freisinger P.; Meitinger T.; Prokisch H.;
J. Med. Genet. 49:277-283(2012)
Cited for: VARIANTS MC1DN2 GLN-63; TRP-77 AND ASP-159; CHARACTERIZATION OF VARIANTS MC1DN2 GLN-63; TRP-77 AND ASP-159; FUNCTION; CATALYTIC ACTIVITY;
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.