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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30049: Variant p.Val106Gly

ATP synthase subunit delta, mitochondrial
Gene: ATP5F1D
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Variant information Variant position: help 106 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 Valine (V) to Glycine (G) at position 106 (V106G, p.Val106Gly). 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 hydrophobic (V) to glycine (G) 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 MC5DN5; no effect on protein abundance; decreased mitochondrial proton-transporting ATP synthase complex assembly; decreased aerobic respiration in patient cells homozygous for the mutation; partial loss of function confirmed by complementation assays. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 168 The length of the canonical sequence.
Location on the sequence: help VVHAEDGTTSKYFVSSGSIA V NADSSVQLLAEEAVTLDMLD 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.
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 23 – 168 ATP synthase subunit delta, mitochondrial
Beta strand 101 – 106



Literature citations
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Olahova M.; Yoon W.H.; Thompson K.; Jangam S.; Fernandez L.; Davidson J.M.; Kyle J.E.; Grove M.E.; Fisk D.G.; Kohler J.N.; Holmes M.; Dries A.M.; Huang Y.; Zhao C.; Contrepois K.; Zappala Z.; Fresard L.; Waggott D.; Zink E.M.; Kim Y.M.; Heyman H.M.; Stratton K.G.; Webb-Robertson B.M.; Snyder M.; Merker J.D.; Montgomery S.B.; Fisher P.G.; Feichtinger R.G.; Mayr J.A.; Hall J.; Barbosa I.A.; Simpson M.A.; Deshpande C.; Waters K.M.; Koeller D.M.; Metz T.O.; Morris A.A.; Schelley S.; Cowan T.; Friederich M.W.; McFarland R.; Van Hove J.L.K.; Enns G.M.; Yamamoto S.; Ashley E.A.; Wangler M.F.; Taylor R.W.; Bellen H.J.; Bernstein J.A.; Wheeler M.T.;
Am. J. Hum. Genet. 102:494-504(2018)
Cited for: FUNCTION; INVOLVEMENT IN MC5DN5; VARIANTS MC5DN5 LEU-82 AND GLY-106; CHARACTERIZATION OF VARIANTS MC5DN5 LEU-82 AND GLY-106;
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.