Sequence information
Variant position: 26 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 174 The length of the canonical sequence.
Location on the sequence:
FLLSVGLVMGFVGFSSKPSP
I YGGLVLIVSGVVGCVIILNF
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 FLLSVG-LVMGFVGFSSKPSPI YGGLVLIVSGVVGCVIILNF
Gorilla FLLSVG-LVMGFVGFSSKPSPI YGGLVLIVSGVVGCAIILN
Chimpanzee FLLSVS-LVMGFVGFSSKPSPI YGGLVLIVSGVVGCAIILN
Mouse FVLSSL-FLVGCLGLALKPSPI YGGLGLIVSGFVGCLMVLG
Rat FILSLL-FLTGCLGLALKPSPI YGGLGLIVSGCIGCLMVLG
Pig FILSTI-FVIGFVGFSSKPSPI YGGLGLIVSGGVGCGIVLN
Bovine FILSVI-FVMGFVGFSSKPSPI YGGLGLIVSGGVGCGIVLN
Rabbit FLLSVM-FVMGFVGFSSKPSPI YGGLGLIVSGGVGCGIVLS
Sheep FILSII-FVMGFVGFSSKPSPI YGGLGLIVSGGVGCGIVLN
Cat FILSTV-FVVSFVSFSSKPSPI YGGFGLIVAGGTGCGIVLN
Horse FILSVI-FVVSFVGFSSKPSPI YGGLVLIVSGGVGCGIIMN
Chicken IFLGIC-FMLGVLAVASNPSPY YGVVGLVVASVMGCGWLVS
Xenopus laevis SVSMMV-LVLGLVAVASNPSPF YAALGLVLAAGAGCLVIVS
Zebrafish FLMAAL--VGGMIAIASNPAPY FAAFGLVVVAGVGCGILVS
Caenorhabditis elegans FVLAVLSSIISYINIDPMKSSF FLIFSLLFS-----MPVIS
Drosophila LMLYSL-IITTSIIFLNMIHPL ALGLTLLIQTIFVCLLTGL
Slime mold IMLLGI-IIMCTLVILRSVNPI YSILNLIVIYGCYASILLT
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 – 174
NADH-ubiquinone oxidoreductase chain 6
Transmembrane
26 – 46
Helical
Literature citations
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
de Vries D.D.; Went L.N.; Bruyn G.W.; Scholte H.R.; Hofstra R.M.W.; Bolhuis P.A.; van Oost B.A.;
Am. J. Hum. Genet. 58:703-711(1996)
Cited for: VARIANT LDYT MET-26; CHARACTERIZATION OF VARIANT LDYT MET-26; FUNCTION; CATALYTIC ACTIVITY;
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.