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UniProtKB/Swiss-Prot P00156: Variant p.Gly251Asp

Cytochrome b
Gene: MT-CYB
Variant information

Variant position:  251
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 Glycine (G) to Aspartate (D) at position 251 (G251D, p.Gly251Asp).
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 glycine (G) to medium size and acidic (D)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  Cardiomyopathy, infantile histiocytoid (CMIH) [MIM:500000]: A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. {ECO:0000269|PubMed:10960495}. 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 CMIH.
Any additional useful information about the variant.

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



Sequence information

Variant position:  251
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  380
The length of the canonical sequence.

Location on the sequence:   GLLLFLLSLMTLTLFSPDLL  G DPDNYTLANPLNTPPHIKPE
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                         GLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPE

Gorilla                       GLFLFLLTLMTLTLFSPDLLGDPDNYTLANPLSTPPHIKPE

                              GALLLLLILMSLVLFSPDLLGDPDNYTPANPLNTPPHIKPE

Rhesus macaque                GLVLLLFILATLTLLSPNLLNDPDNYIPADPLNTPPHIKPE

Chimpanzee                    GLFLFLLILMTLTLFSPGLLGDPDNYTLANPLNTPPHIKPE

Mouse                         GILIMFLILMTLVLFFPDMLGDPDNYMPANPLNTPPHIKPE

Rat                           GVFMLLLFLMTLVLFFPDLLGDPDNYTPANPLNTPPHIKPE

Pig                           GALFMMLILLILVLFSPDLLGDPDNYTPANPLNTPPHIKPE

Bovine                        GALLLILALMLLVLFAPDLLGDPDNYTPANPLNTPPHIKPE

Rabbit                        GFLVAILLLLILVLFSPDLLGDPDNYTPANPLNTPPHIKPE

Goat                          GAMLLILVLMLLVLFTPDLLGDPDNYTPANPLNTPPHIKPE

Sheep                         GAILLILILMLLVLFTPDLLGDPDNYTPANPLNTPPHIKPE

Cat                           GLLVLVLTLMLLVLFSPDLLGDPDNYIPANPLNTPPHIKPE

Horse                         GLLLLILLLLTLVLFSPDLLGDPDNYTPANPLSTPPHIKPE

Chicken                       GLTLMLTPFLTLALFSPNLLGDPENFTPANPLVTPPHIKPE

Xenopus laevis                GFLIMLTALTLLAMFSPNLLGDPDNFTPANPLITPPHIKPE

Zebrafish                     GFVIMLFSLSLLALFSPNLLGDPENFTPANPLVTPPHIKPE

Caenorhabditis elegans        NIVIWLL-FIVLSLIYPFNLGDAEMFIEADPMMSPVHIVPE

Drosophila                    GFIVMIFILISLVLISPNLLGDPDNFIPANPLVTPAHIQPE

Slime mold                    SFMIFLVLFFTFVFFAPNYLGHPDNYLMADSNVTPAHIVPE

Baker's yeast                 TVFLFMLILALFVFYSPNTLGHPDNYIPGNPLVTPASIVPE

Fission yeast                 TIFIFLIGINYMAFYNPYGFMEPDCALPADPLKTPMSIVPE

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 – 380 Cytochrome b
Beta strand 249 – 251


Literature citations

A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.
Andreu A.L.; Checcarelli N.; Iwata S.; Shanske S.; DiMauro S.;
Pediatr. Res. 48:311-314(2000)
Cited for: VARIANT CMIH ASP-251;

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.