UniProtKB/Swiss-Prot P29474: Variant p.Asp298Glu

Nitric oxide synthase 3
Gene: NOS3
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Variant information Variant position:

298 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 Aspartate (D) to Glutamate (E) at position 298 (D298E, p.Asp298Glu). 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:

Similar physico-chemical property. Both residues are medium size and acidic. 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 rs1799983 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1203 The length of the canonical sequence.
Location on the sequence:

GWTPGNGRFDVLPLLLQAPD D PPELFLLPPELVLEVPLEHP 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                         GWTPGNGRFDVLPLLLQAPDDPPELFLLPPELVLEVPLEHP

                              GWTPGNGRFDVLPLLLQAPDEPPELFALPPELVLEVPLEHP

Mouse                         GWTPGNGRFDVLPLLLQAPDEPPELFTLPPEMVLEVPLEHP

Rat                           GWTPGNGRFDVLPLLLQAPDEPPELFTLPPELVLEVPLEHP

Pig                           GWTPGNGRFDVLPLLLQAPDEPPELFALPPELVLEVPLEHP

Bovine                        GWTPGNGRFDVLPLLLQAPDEAPELFVLPPELVLEVPLEHP

Sheep                         GWSPGNGRFDVLPLLLQAPDEAPELFVLPPELVLEVPLEHP

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	2 – 1203	Nitric oxide synthase 3
Region	98 – 486	Interaction with NOSIP
Beta strand	296 – 298

Literature citations
Cloning and expression of a cDNA encoding human endothelium-derived relaxing factor/nitric oxide synthase.
Janssens S.P.; Shimouchi A.; Quertermous T.; Bloch D.B.; Bloch K.D.;
J. Biol. Chem. 267:14519-14522(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLU-298; CATALYTIC ACTIVITY; FUNCTION; Molecular cloning and characterization of human endothelial nitric oxide synthase.
Marsden P.A.; Schappert K.T.; Chen H.S.; Flowers M.; Sundell C.L.; Wilcox J.N.; Lamas S.; Michel T.;
FEBS Lett. 307:287-293(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLU-298; Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene.
Marsden P.A.; Heng H.H.Q.; Scherer S.W.; Stewart R.J.; Hall A.V.; Shi X.-M.; Tsui L.-C.; Schappert K.T.;
J. Biol. Chem. 268:17478-17488(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLU-298; Cloning and structural characterization of the human endothelial nitric-oxide-synthase gene.
Miyahara K.; Kawamoto T.; Sase K.; Yui Y.; Toda K.; Yang L.X.; Hattori R.; Aoyama T.; Yamamoto Y.; Doi Y.; Ogoshi S.; Hashimoto K.; Kawai C.; Sasayama S.; Shizuta Y.;
Eur. J. Biochem. 223:719-726(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLU-298; Alternative splicing in intron 13 of the human eNOS gene: a potential mechanism for regulating eNOS activity.
Lorenz M.; Hewing B.; Hui J.; Zepp A.; Baumann G.; Bindereif A.; Stangl V.; Stangl K.;
FASEB J. 21:1556-1564(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ENOS13B AND ENOS13C); ALTERNATIVE SPLICING; FUNCTION (ISOFORM ENOS13C); VARIANT GLU-298; Submission
Liao J.K.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLU-298; The role of phosphatidylinositol-3-oh kinase in platelet-derived nitric oxide release and platelet disaggregation.
Zhang Y.; Freedman J.E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLU-298; 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 GLU-298; Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT GLU-298; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-112; GLU-298; MET-827; MET-885 AND LEU-982; Submission
NHLBI resequencing and genotyping service (RS&G);
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLU-298; The DNA sequence of human chromosome 7.
Hillier L.W.; Fulton R.S.; Fulton L.A.; Graves T.A.; Pepin K.H.; Wagner-McPherson C.; Layman D.; Maas J.; Jaeger S.; Walker R.; Wylie K.; Sekhon M.; Becker M.C.; O'Laughlin M.D.; Schaller M.E.; Fewell G.A.; Delehaunty K.D.; Miner T.L.; Nash W.E.; Cordes M.; Du H.; Sun H.; Edwards J.; Bradshaw-Cordum H.; Ali J.; Andrews S.; Isak A.; Vanbrunt A.; Nguyen C.; Du F.; Lamar B.; Courtney L.; Kalicki J.; Ozersky P.; Bielicki L.; Scott K.; Holmes A.; Harkins R.; Harris A.; Strong C.M.; Hou S.; Tomlinson C.; Dauphin-Kohlberg S.; Kozlowicz-Reilly A.; Leonard S.; Rohlfing T.; Rock S.M.; Tin-Wollam A.-M.; Abbott A.; Minx P.; Maupin R.; Strowmatt C.; Latreille P.; Miller N.; Johnson D.; Murray J.; Woessner J.P.; Wendl M.C.; Yang S.-P.; Schultz B.R.; Wallis J.W.; Spieth J.; Bieri T.A.; Nelson J.O.; Berkowicz N.; Wohldmann P.E.; Cook L.L.; Hickenbotham M.T.; Eldred J.; Williams D.; Bedell J.A.; Mardis E.R.; Clifton S.W.; Chissoe S.L.; Marra M.A.; Raymond C.; Haugen E.; Gillett W.; Zhou Y.; James R.; Phelps K.; Iadanoto S.; Bubb K.; Simms E.; Levy R.; Clendenning J.; Kaul R.; Kent W.J.; Furey T.S.; Baertsch R.A.; Brent M.R.; Keibler E.; Flicek P.; Bork P.; Suyama M.; Bailey J.A.; Portnoy M.E.; Torrents D.; Chinwalla A.T.; Gish W.R.; Eddy S.R.; McPherson J.D.; Olson M.V.; Eichler E.E.; Green E.D.; Waterston R.H.; Wilson R.K.;
Nature 424:157-164(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLU-298; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLU-298; 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] (ISOFORM 1); VARIANT GLU-298; A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese.
Yoshimura M.; Yasue H.; Nakayama M.; Shimasaki Y.; Sumida H.; Sugiyama S.; Kugiyama K.; Ogawa H.; Ogawa Y.; Saito Y.; Miyamoto Y.; Nakao K.;
Hum. Genet. 103:65-69(1998)
Cited for: VARIANT GLU-298; POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO CORONARY SPASM; In-vivo effects of Glu298Asp endothelial nitric oxide synthase polymorphism.
Sofowora G.; Dishy V.; Xie H.G.; Imamura H.; Nishimi Y.; Morales C.R.; Morrow J.D.; Kim R.B.; Stein C.M.; Wood A.J.;
Pharmacogenetics 11:809-814(2001)
Cited for: VARIANT GLU-298; POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO CORONARY SPASM;

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.