Variant position: 236 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 LLLAAAGKSAQLGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Gorilla FLLAAAGKSAQLGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Chimpanzee FLLAAAGKSAQLGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Mouse LLIAATGKSAQFGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Rat LLIAATGKSAQFGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Pig LLLAAAGKSAQFGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Bovine LALAATGKSAQFGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Rabbit LILAATGKSAQFGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Sheep LILAATGKSAQFGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Cat LLLAATGKSAQFGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Horse LLLAATGKSAQFGLHPWLPS AMEGPTPVSALLHSSTMVVAG
Chicken LILAATGKSAQFGLHPWLPA AMEGPTPVSALLHSSTMVVAG
Xenopus laevis LILAATGKSAQFGLHPWLPA AMEGPTPVSALLHSSTMVVAG
Zebrafish LIIAATGKSAQFTLHPWLPS AMEGPTPVSALLHSSTMVVAG
Caenorhabditis elegans LLLTAFTKSAQFPFSSWLPK AMSAPTPVSSLVHSSTLVTAG
Drosophila VMLAAMTKSAQIPFSSWLPA AMAAPTPVSALVHSSTLVTAG
Slime mold IVIGVVGKSAQLGLHMWLPD AMEGPTPVSALLHAATMVTAG
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
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
Naini A.B.; Lu J.; Kaufmann P.; Bernstein R.A.; Mancuso M.; Bonilla E.; Hirano M.; DiMauro S.;
Arch. Neurol. 62:473-476(2005)
Cited for: VARIANT MELAS THR-236;
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
Blok M.J.; Spruijt L.; de Coo I.F.M.; Schoonderwoerd K.; Hendrickx A.; Smeets H.J.;
J. Med. Genet. 44:E74-E74(2007)
Cited for: VARIANTS MELAS THR-236 AND ASN-393;
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.