Variant position: 237 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 LLAAAGKSAQLGLHPWLPSA MEGPTPVSALLHSSTMVVAGI
Gorilla LLAAAGKSAQLGLHPWLPSA MEGPTPVSALLHSSTMVVAGV
Chimpanzee LLAAAGKSAQLGLHPWLPSA MEGPTPVSALLHSSTMVVAGI
Mouse LIAATGKSAQFGLHPWLPSA MEGPTPVSALLHSSTMVVAGI
Rat LIAATGKSAQFGLHPWLPSA MEGPTPVSALLHSSTMVVAGI
Pig LLAAAGKSAQFGLHPWLPSA MEGPTPVSALLHSSTMVVAGV
Bovine ALAATGKSAQFGLHPWLPSA MEGPTPVSALLHSSTMVVAGI
Rabbit ILAATGKSAQFGLHPWLPSA MEGPTPVSALLHSSTMVVAGV
Sheep ILAATGKSAQFGLHPWLPSA MEGPTPVSALLHSSTMVVAGI
Cat LLAATGKSAQFGLHPWLPSA MEGPTPVSALLHSSTMVVAGV
Horse LLAATGKSAQFGLHPWLPSA MEGPTPVSALLHSSTMVVAGV
Chicken ILAATGKSAQFGLHPWLPAA MEGPTPVSALLHSSTMVVAGI
Xenopus laevis ILAATGKSAQFGLHPWLPAA MEGPTPVSALLHSSTMVVAGI
Zebrafish IIAATGKSAQFTLHPWLPSA MEGPTPVSALLHSSTMVVAGI
Caenorhabditis elegans LLTAFTKSAQFPFSSWLPKA MSAPTPVSSLVHSSTLVTAGL
Drosophila MLAAMTKSAQIPFSSWLPAA MAAPTPVSALVHSSTLVTAGV
Slime mold VIGVVGKSAQLGLHMWLPDA MEGPTPVSALLHAATMVTAGV
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
Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
Liolitsa D.; Rahman S.; Benton S.; Carr L.J.; Hanna M.G.;
Ann. Neurol. 53:128-132(2003)
Cited for: VARIANTS MELAS GLY-145 AND LEU-237;
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.