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UniProtKB/Swiss-Prot P25705: Variant p.Tyr321Cys

ATP synthase subunit alpha, mitochondrial
Gene: ATP5F1A
Variant information

Variant position:  321
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Tyrosine (Y) to Cysteine (C) at position 321 (Y321C, p.Tyr321Cys).
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:  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:  -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:  In COXPD22.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  321
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  553
The length of the canonical sequence.

Location on the sequence:   RDNGKHALIIYDDLSKQAVA  Y RQMSLLLRRPPGREAYPGDV
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         RDNGKHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Chimpanzee                    RDNGKHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Mouse                         RDNGKHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Rat                           RDNGKHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Pig                           RDNGKHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Bovine                        RDNGKHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Xenopus laevis                RDNGTHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Caenorhabditis elegans        RDNGKHALIIFDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Drosophila                    RDKGKHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Slime mold                    RDEGKHALIVYDDLSKHAVAYRQMSLLLRRPPGREAYPGDV

Baker's yeast                 RDNGKHALIVYDDLSKQAVAYRQLSLLLRRPPGREAYPGDV

Fission yeast                 RDNGKHGLVVYDDLSKQAVAYRQMSLLLRRPPGREAYPGDV

Sequence annotation in neighborhood:  
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 subunit alpha, mitochondrial
Modified residue 305 – 305 N6-acetyllysine; alternate
Modified residue 305 – 305 N6-succinyllysine; alternate


Literature citations

Targeted exome sequencing of suspected mitochondrial disorders.
Lieber D.S.; Calvo S.E.; Shanahan K.; Slate N.G.; Liu S.; Hershman S.G.; Gold N.B.; Chapman B.A.; Thorburn D.R.; Berry G.T.; Schmahmann J.D.; Borowsky M.L.; Mueller D.M.; Sims K.B.; Mootha V.K.;
Neurology 80:1762-1770(2013)
Cited for: VARIANT COXPD22 CYS-321; INVOLVEMENT IN COXPD22;

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.