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UniProtKB/Swiss-Prot P00395: Variant p.Leu196Ile

Cytochrome c oxidase subunit 1
Gene: MT-CO1
Chromosomal location: M
Variant information

Variant position:  196
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Isoleucine (I) at position 196 (L196I, p.Leu196Ile).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269|PubMed:12140182, ECO:0000269|PubMed:16284789}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MT-C4D.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   MTQYQTPLFVWSVLITAVLL  L LSLPVLAAGITMLLTDRNLN
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                         MTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

                              MSQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Chimpanzee                    MTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Mouse                         MTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Rat                           MTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Pig                           MSQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Bovine                        MSQYQTPLFVWSVMITAVLLLLSLPVLAAGITMLLTDRNLN

Rabbit                        MSQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Goat                          MSQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Sheep                         MSQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Cat                           MSQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Horse                         LSQYQTPLFVWSVLITAVLLLLALPVLAAGITMLLTDRNLN

Chicken                       LSQYQTPLFVWSVLITAILLLLSLPVLAAGITMLLTDRNLN

Xenopus laevis                MSQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLN

Zebrafish                     ISQYQTPLFVWAVLVTAVLLLLSLPVLAAGITMLLTDRNLN

Caenorhabditis elegans        ISLEHMTLFVWTVFVTVFLLVLSLPVLAGAITMLLTDRNLN

Drosophila                    ISLDRMPLFVWSVVITALLLLLSLPVLAGAITMLLTDRNLN

Slime mold                    LSWSKVSLFVWSILITAVLLVLSLPVLAGGLTMLITDRNFE

Baker's yeast                 MTMHKLPLFVWSIFITAFLLLLSLPVLSAGITMLLLDRNFN

Fission yeast                 LSLYQMPLFAWAIMITSILLLLTLPVLAGGLFMLFSDRNLN

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.

TypePositionsDescription
Chain 1 – 513 Cytochrome c oxidase subunit 1
Transmembrane 182 – 204 Helical; Name=5


Literature citations

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;

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.