Sequence information
Variant position: 253 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 603 The length of the canonical sequence.
Location on the sequence:
LPSAMEGPTPVSALLHSSTM
V VAGIFLLIRFHPLAENSPLI
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 LPSAMEGPTPVSALLHSSTMV VAGIFLLIRFHPLAENSPLI
Gorilla LPSAMEGPTPVSALLHSSTMV VAGVFLLIRFRHLAENNSLA
LPSAMEGPTPVSALLHSSTMV VAGVFLLIRFHPLMEHNQTI
Chimpanzee LPSAMEGPTPVSALLHSSTMV VAGIFLLIRFYPLAENNPLI
Mouse LPSAMEGPTPVSALLHSSTMV VAGIFLLVRFHPLTTNNNFI
Rat LPSAMEGPTPVSALLHSSTMV VAGIFLMIRFHPLTSNNSTI
Pig LPSAMEGPTPVSALLHSSTMV VAGVFLLIRFYPLMETNKLV
Bovine LPSAMEGPTPVSALLHSSTMV VAGIFLLIRFYPLTENNKYI
Rabbit LPSAMEGPTPVSALLHSSTMV VAGVFLLIRFYPLLENNKTA
Sheep LPSAMEGPTPVSALLHSSTMV VAGIFLLIRFYPLTENNKFG
Cat LPSAMEGPTPVSALLHSSTMV VAGVFLLIRFYPLMEQNKTM
Horse LPSAMEGPTPVSALLHSSTMV VAGVFLLIRFHPLMENNKTI
Chicken LPAAMEGPTPVSALLHSSTMV VAGIFLLIRTHPFLSSNKTA
LPSAMEGPTPVSALLHSSTMV VAGVFLLIRFHPLAENNPLI
Xenopus laevis LPAAMEGPTPVSALLHSSTMV VAGIFLLIRISPMMNNNQTA
Zebrafish LPSAMEGPTPVSALLHSSTMV VAGIFLLIRLHPIMETNKLA
Caenorhabditis elegans LPKAMSAPTPVSSLVHSSTLV TAGLILLMNFNNLVMQKDFI
Drosophila LPAAMAAPTPVSALVHSSTLV TAGVYLLIRFNIILSTSWLG
Slime mold LPDAMEGPTPVSALLHAATMV TAGVFLVLRTSPLLSYSITI
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
Chain
1 – 603
NADH-ubiquinone oxidoreductase chain 5
Transmembrane
241 – 261
Helical
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)
Cited for: VARIANTS ALA-253 AND SER-447;
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.