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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y584: Variant p.Val33Leu

Mitochondrial import inner membrane translocase subunit Tim22
Gene: TIMM22
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Variant information Variant position: help 33 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 Leucine (L) at position 33 (V33L, p.Val33Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 COXPD43; affects assembly or stability of the translocase. Any additional useful information about the variant.


Sequence information Variant position: help 33 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 194 The length of the canonical sequence.
Location on the sequence: help PETAGSAEAPLQYSLLLQYL V GDKRQPRLLEPGSLGGIPSP 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                         PETAGSAE----------APLQYSLLLQYLVGDKR-QPRLLEPGSLGGIP--S-P

Mouse                         PEAAGSAE----------APLQYSLLLQYLVGDKR-QPRLL

Rat                           PEAAGSAE----------APLQYSLLLQHLVGDKR-QPRLL

Bovine                        PEAAASAE----------APLQYSLLLQYLVGDKR-QPRLL

Xenopus laevis                P-----GD----------GTLQYSLIMQHLVGDKR-RPVEL

Xenopus tropicalis            P---GTGE----------GTLQYSLIMEHLVGDKR-RPKEV

Caenorhabditis elegans        PFRPKKERVVVEEKPFEYTPSAYVQMIDQMIGIKT-RPWNP

Drosophila                    VTAPKMFG----------DPDLDRMAMEYVGNMQRYRENII

Slime mold                    -------M----------ANISDEELKKILSDNAH-KFMFA

Baker's yeast                 P------------------------------AQKK-PYNEL

Fission yeast                 PNADGN----------------------------------L
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 – 194 Mitochondrial import inner membrane translocase subunit Tim22



Literature citations
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.
Pacheu-Grau D.; Callegari S.; Emperador S.; Thompson K.; Aich A.; Topol S.E.; Spencer E.G.; McFarland R.; Ruiz-Pesini E.; Torkamani A.; Taylor R.W.; Montoya J.; Rehling P.;
Hum. Mol. Genet. 27:4135-4144(2018)
Cited for: INVOLVEMENT IN COXPD43; VARIANTS COXPD43 25-TYR--ARG-194 DEL AND LEU-33; CHARACTERIZATION OF VARIANT COXPD43 LEU-33;
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.