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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P56381: Variant p.Tyr12Cys

ATP synthase subunit epsilon, mitochondrial
Gene: ATP5F1E
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Variant information Variant position: help 12 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 Tyrosine (Y) to Cysteine (C) at position 12 (Y12C, p.Tyr12Cys). 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 aromatic (Y) to medium size and polar (C) 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 MC5DN3; likely pathogenic. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 12 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 51 The length of the canonical sequence.
Location on the sequence: help MVAYWRQAGLS Y IRYSQICAKAVRDALKTEFK 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                         MVAYWRQAGLSYIRYSQICAKAVRDALKTEFK

Mouse                         MVAYWRQAGLSYIRFSQICAKAVRDALKTEFK

Rat                           MVAYWRQAGLSYIRFSQICAKAVRDALKTEFK

Bovine                        MVAYWRQAGLSYIRYSQICAKAVRDALKTEFK

Caenorhabditis elegans        -MVAWRAAGLNYVRYSQIAAQVVRQCTKGGAN

Slime mold                    AGQYWRAAGITYLQYANICGTHVRNCLKEPFR

Baker's yeast                 -MSAWRKAGISYAAYLNVAAQAIRSSLKTELQ

Fission yeast                 MAFAWKK-NFSYSKYASICSQTVRQALKPEIK
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 – 51 ATP synthase subunit epsilon, mitochondrial
Modified residue 21 – 21 N6-acetyllysine; alternate
Modified residue 21 – 21 N6-succinyllysine; alternate
Modified residue 32 – 32 N6-acetyllysine; alternate
Modified residue 32 – 32 N6-succinyllysine; alternate
Helix 12 – 25



Literature citations
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
Mayr J.A.; Havlickova V.; Zimmermann F.; Magler I.; Kaplanova V.; Jesina P.; Pecinova A.; Nuskova H.; Koch J.; Sperl W.; Houstek J.;
Hum. Mol. Genet. 19:3430-3439(2010)
Cited for: VARIANT MC5DN3 CYS-12; 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: VARIANT MC5DN3 CYS-12;
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.