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.
Location on the 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.
Human QLSGAGSETLKQRRTQIMSR GLPKQKP------IEGVKQVIVVASGK
Mouse QLLGAESEALKQRRTQIMSR GLPKQKP------IEGVREVI
Slime mold QLESGKRNYFSNNKIQ-LHG GSGHRQPQVTKVAIEGIKNII
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.
Type Positions Description
39 – 319 Iron-sulfur protein NUBPL
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)
Cited for: INVOLVEMENT IN MC1DN21; VARIANT ARG-56;
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)
Cited for: CHARACTERIZATION OF VARIANT ARG-56;
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.;
Cited for: VARIANTS MC1DN21 TYR-105 AND PHE-193; VARIANT ARG-56;
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.