Sequence information
Variant position: 475 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:
KRLAAGSLFAGFLITNNISP
A SPFQTTIPLYLKLTALAVTF
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 KRLAAGSLFAGFLITNNISPA SPFQTTIPLY-----------------LKLTALAVTF
Gorilla KRLTIGSLFAGFFITNNILPT SVPQMTIPLY----------
KRLLIGSVFAGYIISHSITPT TIPQMTMPHY----------
Chimpanzee KRLTIGSLFAGFLITNNILPM STPQVTIPLY----------
Mouse KRLAFGSIFAGFVISYNIPPT SIPVLTMPWF----------
Rat KRLALGSILAGFLISLNIPPT NIQILTMPWH----------
Pig KRLLIGSIFAGFIISNNIPPM TVPNTTMPLY----------
Bovine KRLLIGSLFAGYIISNNIPPT TIPQMTMPYY----------
Rabbit KRLALGSIFAGFLISNLITPN NVPQMTMPLY----------
Sheep KRLLIGSLFAGFIISNNIPPM TIPQMTMPHY----------
Cat KRLLIGSIFAGYLISYNIPPT TIPQMTMPYY----------
Horse KRLLIGSIFAGFFISNNIYPT TVPEMTMPTY----------
Chicken MRLALGSIMAGLLISSLILPP KTPPMTMPTI----------
KRLTIGSLFAGFFITNNILPM STSQMTIPLY----------
Xenopus laevis KRLAWGSIVAGLLIASNMLPI NSPIMTMPTL----------
Zebrafish QRLAWGSIIAGLIISYTMIPL KTPILTMPIY----------
Caenorhabditis elegans LSLVLVIFSISFLWWMNFNLL NIP----SLF----------
Drosophila MGLLIMSIIGGSMLNWLIFPF PY-MICLPIY----------
Slime mold VILALCSIFIGYVTKDFFVGL GTPVWNNSFFAYPYNNLILE
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
458 – 478
Helical
Literature citations
Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.
Rieder M.J.; Taylor S.L.; Tobe V.O.; Nickerson D.A.;
Nucleic Acids Res. 26:967-973(1998)
Cited for: VARIANT THR-475;
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.