Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51970: Variant p.Arg47Cys

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8
Gene: NDUFA8
Feedback?
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 Arginine (R) to Cysteine (C) at position 47 (R47C, p.Arg47Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 MC1DN37; reduced enzymatic activity of the respiratory chain complex I; reduced NDUFA8 protein levels; decrease in respiratory supercomplexes comprising complex I (CI/CIII 2/CIV and CI/CIII 2) as well as an increase in unintegrated complex III dimers. 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 172 The length of the canonical sequence.
Location on the sequence: help AAAHHYGAQCDKPNKEFMLC R WEEKDPRRCLEEGKLVNKCA 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                         AAAHHYGAQCDKPNKEFMLCRWEE-KDPRRCLEEGKLVNKCA

Gorilla                       AAAHHYGAQCDKPNKEFMLCRWEE-KDPRRCLEEGKLVNKC

Chimpanzee                    AAAHHYGAQCDKPNKEFMLCRWEE-KDPRRCLEEGKLVNKC

Mouse                         AAAHHYGAQCDKTNKEFMLCRWEE-KDPRRCLKEGKLVNGC

Bovine                        AAAHHYGAQCDKPNKEFMLCRWEE-KDPRRCLEEGKLVNQC

Slime mold                    AQRDGVWAVCGEVFEAYEKCRMEKGSDPELCLRESTAVVGC
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 2 – 172 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8
Domain 33 – 74 CHCH 1
Disulfide bond 36 – 66
Disulfide bond 46 – 56



Literature citations
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
Yatsuka Y.; Kishita Y.; Formosa L.E.; Shimura M.; Nozaki F.; Fujii T.; Nitta K.R.; Ohtake A.; Murayama K.; Ryan M.T.; Okazaki Y.;
Clin. Genet. 98:155-165(2020)
Cited for: INVOLVEMENT IN MC1DN37; VARIANT MC1DN37 CYS-47; CHARACTERIZATION OF VARIANT MC1DN37 CYS-47; FUNCTION;
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.