Variant position: 196 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:
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 MTQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Chimpanzee MTQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Mouse MTQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Rat MTQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Pig MSQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Bovine MSQYQTPLFVWSVMITAVLL LLSLPVLAAGITMLLTDRNLN
Rabbit MSQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Goat MSQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Sheep MSQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Cat MSQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Horse LSQYQTPLFVWSVLITAVLL LLALPVLAAGITMLLTDRNLN
Chicken LSQYQTPLFVWSVLITAILL LLSLPVLAAGITMLLTDRNLN
Xenopus laevis MSQYQTPLFVWSVLITAVLL LLSLPVLAAGITMLLTDRNLN
Zebrafish ISQYQTPLFVWAVLVTAVLL LLSLPVLAAGITMLLTDRNLN
Caenorhabditis elegans ISLEHMTLFVWTVFVTVFLL VLSLPVLAGAITMLLTDRNLN
Drosophila ISLDRMPLFVWSVVITALLL LLSLPVLAGAITMLLTDRNLN
Slime mold LSWSKVSLFVWSILITAVLL VLSLPVLAGGLTMLITDRNFE
Baker's yeast MTMHKLPLFVWSIFITAFLL LLSLPVLSAGITMLLLDRNFN
Fission yeast LSLYQMPLFAWAIMITSILL LLTLPVLAGGLFMLFSDRNLN
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 – 513 Cytochrome c oxidase subunit 1
182 – 204 Helical; Name=5
Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.
Varlamov D.A.; Kudin A.P.; Vielhaber S.; Schroeder R.; Sassen R.; Becker A.; Kunz D.; Haug K.; Rebstock J.; Heils A.; Elger C.E.; Kunz W.S.;
Hum. Mol. Genet. 11:1797-1805(2002)
Cited for: VARIANT MT-C4D ILE-196;
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.