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UniProtKB/Swiss-Prot Q8TB37: Variant p.Gly56Arg

Iron-sulfur protein NUBPL
Variant information

Variant position:  56
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Glycine (G) to Arginine (R) at position 56 (G56R, p.Gly56Arg).
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 glycine (G) to large size and basic (R)
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:  Rare variant found in a patient with mitochondrial complex I deficiency; unknown pathological significance; found in association with a nucleotide transition causing exon skipping; does not affect protein stability, processing and import in the mitochondrion; can restore complex I activity when overexpressed in patient fibroblasts.
Any additional useful information about the variant.

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

Sequence information

Variant position:  56
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  319
The length of the canonical sequence.

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.




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.

Chain 39 – 319 Iron-sulfur protein NUBPL

Literature citations

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo S.E.; Tucker E.J.; Compton A.G.; Kirby D.M.; Crawford G.; Burtt N.P.; Rivas M.; Guiducci C.; Bruno D.L.; Goldberger O.A.; Redman M.C.; Wiltshire E.; Wilson C.J.; Altshuler D.; Gabriel S.B.; Daly M.J.; Thorburn D.R.; Mootha V.K.;
Nat. Genet. 42:851-858(2010)

Next generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Tucker E.J.; Mimaki M.; Compton A.G.; McKenzie M.; Ryan M.T.; Thorburn D.R.;
Hum. Mutat. 33:411-418(2012)

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Kevelam S.H.; Rodenburg R.J.; Wolf N.I.; Ferreira P.; Lunsing R.J.; Nijtmans L.G.; Mitchell A.; Arroyo H.A.; Rating D.; Vanderver A.; van Berkel C.G.; Abbink T.E.; Heutink P.; van der Knaap M.S.;
Neurology 80:1577-1583(2013)
Cited for: VARIANTS MC1DN21 TYR-105 AND PHE-193; VARIANT ARG-56;

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.