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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25705: Variant p.Arg207His

ATP synthase F(1) complex subunit alpha, mitochondrial
Gene: ATP5F1A
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Variant information Variant position: help 207 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 Histidine (H) at position 207 (R207H, p.Arg207His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 MC5DN4A; likely pathogenic. Any additional useful information about the variant.


Sequence information Variant position: help 207 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 553 The length of the canonical sequence.
Location on the sequence: help EPMQTGIKAVDSLVPIGRGQ R ELIIGDRQTGKTSIAIDTII 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                         EPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTSIAIDTII

Chimpanzee                    EPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTSIAIDTII

Mouse                         EPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTSIAIDTII

Rat                           EPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTSIAIDTII

Pig                           EPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTSIAIDTII

Bovine                        EPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTSIAIDTII

Xenopus laevis                EPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTSIAIDTII

Caenorhabditis elegans        EPMVTGVKAVDSLVPIGRGQRELIIGDRQTGKTAIAIDTII

Drosophila                    EPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTALAIDTII

Slime mold                    ESMLTGVKIVDALLPIGRGQRELIIGDRQTGKSAIAVDAIL

Baker's yeast                 EPVQTGLKAVDALVPIGRGQRELIIGDRQTGKTAVALDTIL

Fission yeast                 EPMQTGLKAIDSMVPIGRGQRELIIGDRQTGKTAIALDTIL
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 44 – 553 ATP synthase F(1) complex subunit alpha, mitochondrial
Binding site 215 – 215
Binding site 217 – 217
Binding site 218 – 218
Binding site 219 – 219
Binding site 219 – 219
Binding site 220 – 220
Modified residue 204 – 204 Omega-N-methylarginine



Literature citations
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines M.A.; Cuillerier A.; Chakraborty P.; Naas T.; Duque Lasio M.L.; Michaud J.; Pileggi C.; Harper M.E.; Burelle Y.; Toler T.L.; Sondheimer N.; Crawford H.P.; Millan F.; Geraghty M.T.;
Eur. J. Hum. Genet. 29:1719-1724(2021)
Cited for: VARIANT MC5DN4A HIS-207; INVOLVEMENT IN MC5DN4A;
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M.; Kopajtich R.; Steinbruecker K.; Bris C.; Gueguen N.; Feichtinger R.G.; Achleitner M.T.; Duzkale N.; Perivier M.; Koch J.; Engelhardt H.; Freisinger P.; Wagner M.; Brunet T.; Berutti R.; Smirnov D.; Navaratnarajah T.; Rodenburg R.J.T.; Pais L.S.; Austin-Tse C.; O'Leary M.; Boesch S.; Jech R.; Bakhtiari S.; Jin S.C.; Wilbert F.; Kruer M.C.; Wortmann S.B.; Eckenweiler M.; Mayr J.A.; Distelmaier F.; Steinfeld R.; Winkelmann J.; Prokisch H.;
Ann. Neurol. 91:225-237(2022)
Cited for: VARIANTS MC5DN4A GLN-182; HIS-207 AND PHE-346; INVOLVEMENT IN MC5DN4A;
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.