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:
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 LPSAMEGPTPVSALLHSSTM VVAGIFLLIRFHPLAENSPLI
Gorilla LPSAMEGPTPVSALLHSSTM VVAGVFLLIRFRHLAENNSLA
Chimpanzee LPSAMEGPTPVSALLHSSTM VVAGIFLLIRFYPLAENNPLI
Mouse LPSAMEGPTPVSALLHSSTM VVAGIFLLVRFHPLTTNNNFI
Rat LPSAMEGPTPVSALLHSSTM VVAGIFLMIRFHPLTSNNSTI
Pig LPSAMEGPTPVSALLHSSTM VVAGVFLLIRFYPLMETNKLV
Bovine LPSAMEGPTPVSALLHSSTM VVAGIFLLIRFYPLTENNKYI
Rabbit LPSAMEGPTPVSALLHSSTM VVAGVFLLIRFYPLLENNKTA
Sheep LPSAMEGPTPVSALLHSSTM VVAGIFLLIRFYPLTENNKFG
Cat LPSAMEGPTPVSALLHSSTM VVAGVFLLIRFYPLMEQNKTM
Horse LPSAMEGPTPVSALLHSSTM VVAGVFLLIRFHPLMENNKTI
Chicken LPAAMEGPTPVSALLHSSTM VVAGIFLLIRTHPFLSSNKTA
Xenopus laevis LPAAMEGPTPVSALLHSSTM VVAGIFLLIRISPMMNNNQTA
Zebrafish LPSAMEGPTPVSALLHSSTM VVAGIFLLIRLHPIMETNKLA
Caenorhabditis elegans LPKAMSAPTPVSSLVHSSTL VTAGLILLMNFNNLVMQKDFI
Drosophila LPAAMAAPTPVSALVHSSTL VTAGVYLLIRFNIILSTSWLG
Slime mold LPDAMEGPTPVSALLHAATM VTAGVFLVLRTSPLLSYSITI
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
1 – 603 NADH-ubiquinone oxidoreductase chain 5
241 – 261 Helical
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;
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.