UniProtKB/Swiss-Prot Q9NZJ6: Variant p.Tyr329His

Ubiquinone biosynthesis O-methyltransferase, mitochondrial
Gene: COQ3
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Variant information Variant position:

329 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 Tyrosine (Y) to Histidine (H) at position 329 (Y329H, p.Tyr329His). 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 large size and aromatic (Y) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 rs4144164 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YNPFSGYWHWSENTSLNYAA Y AVKSRVQEHPASAEFVLKGE 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                         YNPFSGYWHWSENTSL------NYAAYAVKSRVQEHPASAEFVLKGE

Mouse                         YNPFSGYWHWSENTSL------NYAAHAVRSRAQEHQEPAE

Rat                           YNPFSGYWHWTENTSL------NYAAHAVRARAQEHLEPAE

Bovine                        YNPFSGYWHWSENTSL------NYAAHALKSSLQEQPAPAE

Slime mold                    YNPLTCEWDFTNDLNV------NYLLHAIKK----------

Baker's yeast                 YLPYQG-WVEHDCSDVG-----NYFMAIQRLN---------

Fission yeast                 YNPLKQQWTLDKPGSSGLGLSCNYFLSAQKPMSA-------

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	86 – 369	Ubiquinone biosynthesis O-methyltransferase, mitochondrial

Literature citations
Isolation of full-length cDNA clones from human fetal brain cDNA library.
Xie Y.; Mao Y.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLU-134; GLY-272 AND HIS-329; 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]; VARIANT HIS-329; 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]; VARIANTS GLY-272 AND HIS-329; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLU-134; GLY-272 AND HIS-329; Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis.
Jonassen T.; Clarke C.F.;
J. Biol. Chem. 275:12381-12387(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 11-369; CATALYTIC ACTIVITY; VARIANTS GLY-272 AND HIS-329;

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.