UniProtKB/Swiss-Prot P03897: Variant p.Gln26Lys

NADH-ubiquinone oxidoreductase chain 3
Gene: MT-ND3
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Variant information Variant position:

26 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 Glutamine (Q) to Lysine (K) at position 26 (Q26K, p.Gln26Lys). 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 (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 LS; uncertain significance; decrease in enzyme activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs587780529 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ILMINTLLALLLMIITFWLP Q LNGYMEKSTPYECGFDPMSP 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                         ILMINTLLALLLMIITFWLPQLN-GYMEKSTPYECGFDPMSP

Gorilla                       ILMTNTLLALLLMIITFWLPQLN-SYMEKTNPYECGFDPVS

                              TLMTNVTLASLLVLIAFWLPQLN-IYTDKTSPYECGFDPMG

Chimpanzee                    ILMTNTLLALLLMIITFWLPQLN-SYMEKSTPYECGFDPMS

Mouse                         VIFINILLSLTLILVAFWLPQMN-LYSEKANPYECGFDPTS

Rat                           IITINITLSFILISIAFWLPQMN-LYSEKANPYECGFDPTS

Pig                           TLLTNVTLASLLVLIAFWLPQLN-AYSEKTSPYECGFDPMG

Bovine                        ALLTNFTLATLLVIIAFWLPQLN-VYSEKTSPYECGFDPMG

Rabbit                        VLLINTTISLVLVTIAFWLPQLN-IYSEKSSPYECGFDPMG

Sheep                         TLLTNFTLATLLVTIAFWLPQLN-VYSEKTSPYECGFDPMG

Cat                           ALLTNTLLSTLLVLIAFWLPQLN-IYAEKASPYECGFDPMG

Horse                         TLLTNTLLASLLVLIAFWLPQLN-IYAEKTSPYECGFDPMG

Chicken                       MLSLSFLLSAALTTMNFWLAQMA-PDTEKLSPYECGFDPLG

Xenopus laevis                ILMIAMTLSTILAILSFWLPQMT-PDMEKLSPYECGFDPLG

Zebrafish                     ILIIMTTLSLVLALVSFWLPQMN-SDTEKLSPYECGFDPLG

Caenorhabditis elegans        VLVFTLVLLFAFYLINFLLSIKD-MGKNKISAFECGFVSVG

Drosophila                    IALLILLITTIVMFLASILSKKALIDREKSSPFECGFDPKS

Slime mold                    LLAISTGLSVILFFLGYFLMFKV-AYEDKLMGYECGFDPFG

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 – 115	NADH-ubiquinone oxidoreductase chain 3

Literature citations
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.
Miller D.K.; Menezes M.J.; Simons C.; Riley L.G.; Cooper S.T.; Grimmond S.M.; Thorburn D.R.; Christodoulou J.; Taft R.J.;
PLoS ONE 9:e104879-e104879(2014)
Cited for: VARIANT LS LYS-26; CHARACTERIZATION OF VARIANT LS LYS-26; FUNCTION; CATALYTIC ACTIVITY;

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.