Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q3ZCQ8: Variant p.Arg113Cys

Mitochondrial import inner membrane translocase subunit TIM50
Gene: TIMM50
Feedback?
Variant information Variant position: help 113 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 Cysteine (C) at position 113 (R113C, p.Arg113Cys). 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 (C) 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 MGCA9; likely pathogenic; severely decreased protein abundance in homozygous patient cells; results in reduced protein import into mitochondrial matrix. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 113 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 353 The length of the canonical sequence.
Location on the sequence: help ENGAKIPDEFDNDPILVQQL R RTYKYFKDYRQMIIEPTSPC 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                         ENGAKIPD-----EFDNDPILVQQLRRTYKYFK---DYRQMIIEP-TSPC

Mouse                         ENGTKIPD-----EFDSDPILVQQLRRTYKYFK---DYRQM

Bovine                        ENGAKIPD-----EFDNDPILVQQLRRTYKYFK---DYRQM

Zebrafish                     EQGNKIPD-----EFDNDVPVIQQLRRTFKYFK---DYRQM

Caenorhabditis elegans        EFGNVISD-----EFSG--SFLAPFYRIANSFK---LWRDY

Slime mold                    EERYRLNSVESKFYHSIAEPFREFFDNIFENLRTKYEFFDM

Baker's yeast                 QESEELKK-----DIDNGYTLSLMYKRFKARFN---SMFTY

Fission yeast                 DEKELEKQ-----YPAAGYSPSDWWNRVKARTN---NFFSY
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 45 – 353 Mitochondrial import inner membrane translocase subunit TIM50
Topological domain 87 – 353 Mitochondrial intermembrane
Alternative sequence 12 – 124 Missing. In isoform 3.



Literature citations
Reduced protein import via TIM23 sort drives disease pathology in TIMM50-associated mitochondrial disease.
Crameri J.J.; Palmer C.S.; Stait T.; Jackson T.D.; Lynch M.; Sinclair A.; Frajman L.E.; Compton A.G.; Coman D.; Thorburn D.R.; Frazier A.E.; Stojanovski D.;
Mol. Cell. Biol. 44:226-244(2024)
Cited for: VARIANT MGCA9 CYS-113; CHARACTERIZATION OF VARIANT MGCA9 CYS-113; FUNCTION; SUBUNIT;
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.