UniProtKB/Swiss-Prot P00414: Variant p.Phe251Leu

Cytochrome c oxidase subunit 3
Gene: MT-CO3
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Variant information Variant position:

251 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 Phenylalanine (F) to Leucine (L) at position 251 (F251L, p.Phe251Leu). 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 large size and aromatic (F) to medium size and hydrophobic (L) 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
Variant description:

Found in two patients with a diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1556423753 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

261 The length of the canonical sequence.
Location on the sequence:

HHFGFEAAAWYWHFVDVVWL F LYVSIYWWGS 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                         HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS-

Gorilla                       HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

                              HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

Chimpanzee                    HHFGFQAAAWYWHFVDVVWLFLYVSIYWWGS

Mouse                         HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

Rat                           HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

Pig                           HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

Bovine                        HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

Rabbit                        HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

Sheep                         HHFGFEAAAWYWHFVDVVWLFLYMSIYWWGS

Cat                           HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

Horse                         HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

Chicken                       HHFGFEAAAWYWHFVDIIWLFLYMSMYWWGS

Xenopus laevis                HHFGFEAA-WYWHFVDVVWLFLYVSIYWWGS

Zebrafish                     HHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS

Caenorhabditis elegans        HHLGLEFAILYWHFVDVVWLFLFVFVYWWSY

Drosophila                    HHFGFEAAAWYWHFVDVVWLFLYITIYWWGG

Slime mold                    KSTGFACTLFYWHFVDIVWIFLYIVIYWWGS

Baker's yeast                 HHVGYETTIIYTHVLDVIWLFLYVVFYWWGV

Fission yeast                 HHNGFECGIYYWHFCDVVWLFLYLTIYIWGS

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 – 261	Cytochrome c oxidase subunit 3
Transmembrane	233 – 256	Helical; Name=VII

Literature citations
A MELAS syndrome family harboring two mutations in mitochondrial genome.
Choi B.O.; Hwang J.H.; Kim J.; Cho E.M.; Cho S.Y.; Hwang S.J.; Lee H.W.; Kim S.J.; Chung K.W.;
Exp. Mol. Med. 40:354-360(2008)
Cited for: VARIANT LEU-251; A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.
Manfredi G.; Schon E.A.; Moraes C.T.; Bonilla E.; Berry G.T.; Sladky J.T.; Dimauro S.;
Neuromuscul. Disord. 5:391-398(1995)
Cited for: VARIANT LEU-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.