UniProtKB/Swiss-Prot Q99807: Variant p.Thr103Met

5-demethoxyubiquinone hydroxylase, mitochondrial
Gene: COQ7
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Variant information Variant position:

103 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 Threonine (T) to Methionine (M) at position 103 (T103M, p.Thr103Met). 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 (T) to medium size and hydrophobic (M) 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
Other resources:

Links to websites of interest for the variant.

Variant rs11074359 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

IQKMWDQEKDHLKKFNELMV T FRVRPTVLMPLWNVLGFALG 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                         IQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALG

Mouse                         IQKMWDQEKNHLKKFNELMIAFRVRPTVLMPLWNVAGFALG

Bovine                        IQKMWDQEKDHLKKFNELMVAFRVRPTVLMPFWNVVGFALG

Caenorhabditis elegans        IKKMWDEEKEHLDTMERLAAKHNVPHTVFSPVFSVAAYALG

Slime mold                    IREMADQEKEHQAKFNQLIYEKRVRPTILSPIWNVAGFGLG

Baker's yeast                 LKHIWDQEIHHHNTFNNLQLKRRVRPSLLTPLWKAGAFAMG

Fission yeast                 IQHMWDQEKYHLATFDNYVLKNRVRPTFLRPFWDIAGFALG

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	36 – 217	5-demethoxyubiquinone hydroxylase, mitochondrial
Repeat	48 – 129	1
Region	48 – 217	2 X approximate tandem repeats
Binding site	90 – 90
Binding site	90 – 90
Binding site	93 – 93
Helix	80 – 104

Literature citations
Orthologues of the Caenorhabditis elegans longevity gene clk-1 in mouse and human.
Asaumi S.; Kuroyanagi H.; Seki N.; Shirasawa T.;
Genomics 58:293-301(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-103; Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
Wiemann S.; Weil B.; Wellenreuther R.; Gassenhuber J.; Glassl S.; Ansorge W.; Boecher M.; Bloecker H.; Bauersachs S.; Blum H.; Lauber J.; Duesterhoeft A.; Beyer A.; Koehrer K.; Strack N.; Mewes H.-W.; Ottenwaelder B.; Obermaier B.; Tampe J.; Heubner D.; Wambutt R.; Korn B.; Klein M.; Poustka A.;
Genome Res. 11:422-435(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT MET-103; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT MET-103; Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging.
Vajo Z.; King L.M.; Jonassen T.; Wilkin D.J.; Ho N.; Munnich A.; Clarke C.F.; Francomano C.A.;
Mamm. Genome 10:1000-1004(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 39-217 (ISOFORMS 1/2); VARIANT MET-103; Structural and functional conservation of the Caenorhabditis elegans timing gene clk-1.
Ewbank J.J.; Barnes T.M.; Lakowski B.; Lussier M.; Bussey H.; Hekimi S.;
Science 275:980-983(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-130 (ISOFORMS 1/2); VARIANT MET-103; Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
Wang Y.; Smith C.; Parboosingh J.S.; Khan A.; Innes M.; Hekimi S.;
J. Cell. Mol. Med. 21:2329-2343(2017)
Cited for: VARIANTS COQ10D8 PRO-111 AND GLU-141; CHARACTERIZATION OF VARIANTS COQ10D8 PRO-111 AND GLU-141; VARIANT MET-103; MUTAGENESIS OF GLU-178; FUNCTION;

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