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UniProtKB/Swiss-Prot P08574: Variant p.Leu215Phe

Cytochrome c1, heme protein, mitochondrial
Gene: CYC1
Chromosomal location: 8q24.3
Variant information

Variant position:  215
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 Phenylalanine (F) at position 215 (L215F, p.Leu215Phe).
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:  Change from medium size and hydrophobic (L) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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 III deficiency, nuclear 6 (MC3DN6) [MIM:615453]: An autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal. {ECO:0000269|PubMed:23910460}. 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 MC3DN6.
Any additional useful information about the variant.

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



Sequence information

Variant position:  215
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  325
The length of the canonical sequence.

Location on the sequence:   PDLSYIVRARHGGEDYVFSL  L TGYCEPPTGVSLREGLYFNP
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                         PDLSYIVRARHGGEDYVFSLLTGYC-EPPTGVSLREGLYFNP

Mouse                         PDLSYIVRARHGGEDYVFSLLTGYC-EPPTGVSLREGLYFN

Bovine                        PDLSYIVRARHGGEDYVFSLLTGYC-EPPTGVSLREGLYFN

Slime mold                    PDLSLVIKARGAHEDYVFSLLTGYC-EPPAGVRVVGGQYFN

Baker's yeast                 PDLSLIVKARHGGCDYIFSLLTGYPDEPPAGVALPPGSNYN

Fission yeast                 PDLSCVVRGRHGGQDYIYSLLTGYT-EPPAGVEVPDGMNFN

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 85 – 325 Cytochrome c1, heme protein, mitochondrial
Helix 208 – 216


Literature citations

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Gaignard P.; Menezes M.; Schiff M.; Bayot A.; Rak M.; Ogier de Baulny H.; Su C.H.; Gilleron M.; Lombes A.; Abida H.; Tzagoloff A.; Riley L.; Cooper S.T.; Mina K.; Sivadorai P.; Davis M.R.; Allcock R.J.; Kresoje N.; Laing N.G.; Thorburn D.R.; Slama A.; Christodoulou J.; Rustin P.;
Am. J. Hum. Genet. 93:384-389(2013)
Cited for: VARIANTS MC3DN6 CYS-96 AND PHE-215;

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.