UniProtKB/SwissProt variant VAR

Cytochrome c oxidase subunit 2
Gene: MT-CO2
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Variant information Variant position:

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

LP/P [Disclaimer] 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 Methionine (M) to Lysine (K) at position 29 (M29K, p.Met29Lys). 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 (M) to large size and basic (K) 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:

In MT-C4D; affect the stability of the COX complex. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs199474827 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LQDATSPIMEELITFHDHAL M IIFLICFLVLYALFLTLTTK 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                         LQDATSPIMEELITFHDHALMI-I-FLICFLVLYALFLTL-----TTK

Gorilla                       LQDATSPIMEELITFHDHALMI-I-FLICFLVLYALFLTL-

                              LQDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML-

Rhesus macaque                LQDATSPVMEELITFHDHAFMA-M-SLISFLVLYALLSTL-

Chimpanzee                    LQDATSPIMEELIIFHDHALMI-I-FLICFLVLYALFLTL-

Mouse                         LQDATSPIMEELMNFHDHTLMI-V-FLISSLVLYIISLML-

Rat                           LQDATSPIMEELTNFHDHTLMI-V-FLISSLVLYIISLML-

Pig                           FQDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML-

Bovine                        FQDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML-

Rabbit                        FQDASSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML-

Goat                          FQDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML-

Sheep                         FQDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML-

Cat                           FQDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML-

Horse                         FQDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISSML-

Chicken                       FQDASSPIMEELVEFHDHALMV-A-LAICSLVLYLLTLML-

Xenopus laevis                FQDAASPIMEELLHFHDHTLMA-V-FLISTLVLYIITIMM-

Zebrafish                     FQDAASPVMEELLCFHDHALMI-V-FLISTLVLYIIIAMV-

Caenorhabditis elegans        FQHSLFASYMDWFHSFNCSLLLGVLVFVTLLFGYLIFGTF-

Drosophila                    LQDSASPLMEQLIFFHDHALLI-L-VMITVLVGYLMFMLF-

Baker's yeast                 FQDSATPNQEGILELHDNIMFY-L-LVILGLVSWMLYTIV-

Fission yeast                 FQDGASPSYLGVTHLNDYLMFY-LTFIFIGVIYAICKAVIE

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 – 227	Cytochrome c oxidase subunit 2
Transmembrane	15 – 45	Helical; Name=I

Literature citations
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
Rahman S.; Taanman J.-W.; Cooper J.M.; Nelson I.; Hargreaves I.; Meunier B.; Hanna M.G.; Garcia J.J.; Capaldi R.A.; Lake B.D.; Leonard J.V.; Schapira A.H.V.;
Am. J. Hum. Genet. 65:1030-1039(1999)
Cited for: VARIANT MT-C4D LYS-29; CHARACTERIZATION OF VARIANT MT-C4D LYS-29;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00403: Variant p.Met29Lys