UniProtKB/Swiss-Prot P00156: Variant p.Asn255His

Cytochrome b
Gene: MT-CYB
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Variant information Variant position:

255 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Asparagine (N) to Histidine (H) at position 255 (N255H, p.Asn255His). 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 polar. 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
Variant description:

Found in a patient with fatal post-partum cardiomyopathy; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

255 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:

FLLSLMTLTLFSPDLLGDPD N YTLANPLNTPPHIKPEWYFL 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                         FLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFL

Gorilla                       FLLTLMTLTLFSPDLLGDPDNYTLANPLSTPPHIKPEWYFL

                              LLLILMSLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFL

Rhesus macaque                LLFILATLTLLSPNLLNDPDNYIPADPLNTPPHIKPEWYFL

Chimpanzee                    FLLILMTLTLFSPGLLGDPDNYTLANPLNTPPHIKPEWYFL

Mouse                         MFLILMTLVLFFPDMLGDPDNYMPANPLNTPPHIKPEWYFL

Rat                           LLLFLMTLVLFFPDLLGDPDNYTPANPLNTPPHIKPEWYFL

Pig                           MMLILLILVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFL

Bovine                        LILALMLLVLFAPDLLGDPDNYTPANPLNTPPHIKPEWYFL

Rabbit                        AILLLLILVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFL

Goat                          LILVLMLLVLFTPDLLGDPDNYTPANPLNTPPHIKPEWYFL

Sheep                         LILILMLLVLFTPDLLGDPDNYTPANPLNTPPHIKPEWYFL

Cat                           LVLTLMLLVLFSPDLLGDPDNYIPANPLNTPPHIKPEWYFL

Horse                         LILLLLTLVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFL

Chicken                       MLTPFLTLALFSPNLLGDPENFTPANPLVTPPHIKPEWYFL

Xenopus laevis                MLTALTLLAMFSPNLLGDPDNFTPANPLITPPHIKPEWYFL

Zebrafish                     MLFSLSLLALFSPNLLGDPENFTPANPLVTPPHIKPEWYFL

Caenorhabditis elegans        WLLFIV-LSLIYPFNLGDAEMFIEADPMMSPVHIVPEWYFL

Drosophila                    MIFILISLVLISPNLLGDPDNFIPANPLVTPAHIQPEWYFL

Slime mold                    FLVLFFTFVFFAPNYLGHPDNYLMADSNVTPAHIVPEWYLL

Baker's yeast                 FMLILALFVFYSPNTLGHPDNYIPGNPLVTPASIVPEWYLL

Fission yeast                 FLIGINYMAFYNPYGFMEPDCALPADPLKTPMSIVPEWYLL

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 – 380	Cytochrome b
Beta strand	255 – 258

Literature citations
Novel mutations in mitochondrial cytochrome b in fatal post partum cardiomyopathy.
Marin-Garcia J.; Ananthakrishnan R.; Gonzalvo A.; Goldenthal M.J.;
J. Inherit. Metab. Dis. 18:77-78(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-7 AND HIS-255;

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.