UniProtKB/Swiss-Prot P00414: Variant p.Gln177Arg

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

177 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 Glutamine (Q) to Arginine (R) at position 177 (Q177R, p.Gln177Arg). 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 (Q) to large size and basic (R) 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

Sequence information Variant position:

177 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:

NQMIQALLITILLGLYFTLL Q ASEYFESPFTISDGIYGSTF 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                         NQMIQA-LLITILLGLYFTLLQASEYFESPFTISDGIYGSTF

Gorilla                       NQMIQA-LLITILLGLYFTLLQASEYFEAPFTISDGIYGST

                              KHMLQA-LFITISLGVYFTLLQASEYYETSFTISDGVYGST

Chimpanzee                    NQMIQA-LLITILLGLYFTLLQASEYFESPFTISDGIYGST

Mouse                         NHMNQA-LLITIMLGLYFTILQASEYFETSFSISDGIYGST

Rat                           NHMNQA-LLITILLGLYFTILQASEYFETSFSISDGIYGST

Pig                           KHMIQA-LSITIALGVYFTLLQASEYYEAPFTISDGVYGST

Bovine                        KHMLQA-LFITITLGVYFTLLQASEYYEAPFTISDGVYGST

Rabbit                        KNMQQA-LAITILLGIYFTLLQASEYYETSFTISDGVYGST

Sheep                         YHMLQA-LFITIALGVYFTLLQASEYYEAPFTISDGVYGST

Cat                           KHMLQA-LFITISLGVYFTLLQASEYYETSFTISDGVYGST

Horse                         KNMLQG-LFITISLGVYFTLLQASEYYEASFTISDGVYGST

Chicken                       KQAIHA-LTLTILLGFYFTALQAMEYHEASFSIADSVYGST

Xenopus laevis                KEAIQS-LTLTILLGLYFTALQAMEYYEAPFTIADGVYGST

Zebrafish                     KQAIQS-LALTILLGLYFTALQAMEYYEAPFTIADGVYGST

Caenorhabditis elegans        KSCTNS-MILTCLLAAYFTGIQLMEYMEASFSIADGVFGSI

Drosophila                    SQTTQG-LFFTVLLGIYFTILQAYEYIEAPFTIADSIYGST

Slime mold                    NKVIKTRLYFTLLCAVVFLACQGYEYFFAPFSMNDGIYGSL

Baker's yeast                 NKALSG-LLITFWLIVIFVTCQYIEYTNAAFTISDGVYGSV

Fission yeast                 ENALKG-LYMTIALSFLFLGGQAYEYWNAPFTISDSVYGAS

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	156 – 183	Helical; Name=V

Literature citations
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS ILE-91; ARG-177 AND ILE-254;

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.