UniProtKB/Swiss-Prot P00414: Variant p.His3Arg

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

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

LB/B 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 Histidine (H) to Arginine (R) at position 3 (H3R, p.His3Arg). 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 polar (H) to large size and basic (R) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1556423637 [ dbSNP | Ensembl ]

Sequence information Variant position:

3 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:

MT H QSHAYHMVKPSPWPLTGALS 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                         MTHQSHAYHMVKPSPWPLTGALS

Gorilla                       MIHQSHAYHMVKPSPWPLTGALS

                              MTHQTHAYHMVNPSPWPLTGALS

Chimpanzee                    MTHQSHAYHMVKPSPWPLTGALS

Mouse                         MTHQTHAYHMVNPSPWPLTGAFS

Rat                           MTHQTHAYHMVNPSPWPLTGALS

Pig                           MTHQTHAYHMVNPSPWPLTGALS

Bovine                        MTHQTHAYHMVNPSPWPLTGALS

Rabbit                        MTHQTHAYHMVNPSPWPLTGALS

Sheep                         MTHQTHAYHMVNPSPWPLTGALS

Cat                           MTHQTHAYHMVNPSPWPLTGALS

Horse                         MTHQTHAYHMVNPSPWPLTGALS

Chicken                       MAHQAHSYHMVDPSPWPIFGAAA

Xenopus laevis                MAHQAHAYHMVDPSPWPLTGAVA

Zebrafish                     MAHQAHAYHMVDPSPWPLTGAVA

Caenorhabditis elegans        ---MFHNFHILSLSSYAYNLFFA

Drosophila                    STHSNHPFHLVDYSPWPLTGAIG

Slime mold                    KHMKRHPFHIVRGTVAPLAVTLP

Baker's yeast                 SRHQQHPFHMVMPSPWPIVVSFA

Fission yeast                 TKFQGHPYHIVSASPWPFFLSVV

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
Topological domain	1 – 15	Mitochondrial matrix

Literature citations
Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.
Rieder M.J.; Taylor S.L.; Tobe V.O.; Nickerson D.A.;
Nucleic Acids Res. 26:967-973(1998)
Cited for: VARIANTS ARG-3 AND SER-35;

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.