Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96CU9: Variant p.Arg352Trp

FAD-dependent oxidoreductase domain-containing protein 1
Gene: FOXRED1
Feedback?
Variant information Variant position: help 352 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 Tryptophan (W) at position 352 (R352W, p.Arg352Trp). 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 large size and aromatic (W) 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 MC1DN19; hypomorphic variant in vitro. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 352 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 486 The length of the canonical sequence.
Location on the sequence: help PQGPGLETPLVADTSGAYFR R EGLGSNYLGGRSPTEQEEPD 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                         PQGPGLETPLVADTSGAYFRREGLGSNYLGGRSPTEQEEPD

Mouse                         PQGPGLETPLVADISGVYFRREGLGSNYLGGCSPTEEEEPD

Bovine                        PQGPGLEAPLVADPSGAYFRREGLGNNYVGSCSPTEEEEPD

Xenopus laevis                PNGPGLDCPLLIDNSGAYFRREGLGGNYIAGKSPAEEEEPD
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 – 486 FAD-dependent oxidoreductase domain-containing protein 1
Mutagenesis 349 – 349 Y -> AF. No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1.
Mutagenesis 359 – 359 Y -> A. Not able to restore complex I assembly when expressed in cells lacking FOXRED1.
Mutagenesis 359 – 359 Y -> F. No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1.



Literature citations
Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.
Formosa L.E.; Mimaki M.; Frazier A.E.; McKenzie M.; Stait T.L.; Thorburn D.R.; Stroud D.A.; Ryan M.T.;
Hum. Mol. Genet. 24:2952-2965(2015)
Cited for: FUNCTION; SUBCELLULAR LOCATION; SUBUNIT; CHARACTERIZATION OF VARIANTS MC1DN19 TRP-352 AND SER-430; MUTAGENESIS OF TYR-327; TYR-349; TYR-359; TYR-410 AND TYR-411; FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
Fassone E.; Duncan A.J.; Taanman J.W.; Pagnamenta A.T.; Sadowski M.I.; Holand T.; Qasim W.; Rutland P.; Calvo S.E.; Mootha V.K.; Bitner-Glindzicz M.; Rahman S.;
Hum. Mol. Genet. 19:4837-4847(2010)
Cited for: VARIANT MC1DN19 TRP-352; FUNCTION; SUBCELLULAR LOCATION;
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.