Sequence information
Variant position: 273 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 513 The length of the canonical sequence.
Location on the sequence:
MISHIVTYYSGKKEPFGYMG
M VWAMMSIGFLGFIVWAHHMF
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 MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Chimpanzee MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Mouse IISHVVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Rat IISHVVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Pig MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Bovine MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Rabbit MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Goat MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Sheep MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Cat MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Horse MISHIVTYYSGKKEPFGYMGM VWAMMSIGFLGFIVWAHHMF
Chicken MISHVVAYYAGKKEPFGYMGM VWAMLSIGFLGFIVWAHHMF
Xenopus laevis MISHIVTYYSGKKEPFGYMGM VWAMMSIGLLGFIVWAHHMF
Zebrafish IISHVVAYYAGKKEPFGYMGM VWAMMAIGLLGFIVWAHHMF
Caenorhabditis elegans IVSQSTLYLTGKKEVFGALGM VYAILSIGLIGCVVWAHHMY
Drosophila MISHIISQESGKKETFGSLGM IYAMLAIGLLGFIVWAHHMF
Slime mold LVSIILSKYS-NKGIFGVKGM ISAMSAIGFLGFLVWAHHMY
Baker's yeast IISHVVSTYS-KKPVFGEISM VYAMASIGLLGFLVWSHHMY
Fission yeast VVSHIIPSLA-HKPIFGKEGM LWAMLSIALLGLMVWSHHLF
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 – 513
Cytochrome c oxidase subunit 1
Transmembrane
271 – 293
Helical; Name=7
Metal binding
290 – 290
Copper B
Metal binding
291 – 291
Copper B
Literature citations
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.
Gattermann N.; Retzlaff S.; Wang Y.L.; Hofhaus G.; Heinisch J.; Aul C.; Schneider W.;
Blood 90:4961-4972(1997)
Cited for: VARIANTS THR-273 AND THR-280; POSSIBLE INVOLVEMENT IN ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA;
MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase.
Broker S.; Meunier B.; Rich P.; Gattermann N.; Hofhaus G.;
Eur. J. Biochem. 258:132-138(1998)
Cited for: VARIANTS THR-273 AND THR-280; POSSIBLE INVOLVEMENT IN ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA;
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.