UniProtKB/Swiss-Prot P46934: Variant p.Asn698Ser

E3 ubiquitin-protein ligase NEDD4
Gene: NEDD4
Feedback?

Variant information Variant position:

698 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 Asparagine (N) to Serine (S) at position 698 (N698S, p.Asn698Ser). 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 (N) to small size and polar (S) 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 rs2303579 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1319 The length of the canonical sequence.
Location on the sequence:

NRESSENWEIIREDEATMYS N QAFPSPPPSSNLDVPTHLAE 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                         NRESSENWEIIREDEAT---MYSNQ--AFPSPPPS---------SNLDVPTHLAE

Mouse                         NRESPENWEIVREDENT---EYSGQ--AVQS-PPS------

Rat                           NHESPENWEIVREDENT---IYSGQ--AVQS-PPS------

Drosophila                    RSADSISHNSIEDNNNAAGLAYTPKTAATSSAPPNTPTNNN

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 – 1319	E3 ubiquitin-protein ligase NEDD4
Region	578 – 981	Mediates interaction with TNIK

Literature citations
Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T.; Miyajima N.; Tanaka A.; Sazuka T.; Seki N.; Sato S.; Tabata S.; Ishikawa K.; Kawarabayasi Y.; Kotani H.; Nomura N.;
DNA Res. 2:37-43(1995)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4); VARIANTS GLN-679 AND SER-698; 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 4); VARIANTS GLN-679 AND SER-698; Identification of a human cell proliferation inducing gene.
Kim J.W.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4); VARIANTS GLN-679 AND SER-698; Analysis of the DNA sequence and duplication history of human chromosome 15.
Zody M.C.; Garber M.; Sharpe T.; Young S.K.; Rowen L.; O'Neill K.; Whittaker C.A.; Kamal M.; Chang J.L.; Cuomo C.A.; Dewar K.; FitzGerald M.G.; Kodira C.D.; Madan A.; Qin S.; Yang X.; Abbasi N.; Abouelleil A.; Arachchi H.M.; Baradarani L.; Birditt B.; Bloom S.; Bloom T.; Borowsky M.L.; Burke J.; Butler J.; Cook A.; DeArellano K.; DeCaprio D.; Dorris L. III; Dors M.; Eichler E.E.; Engels R.; Fahey J.; Fleetwood P.; Friedman C.; Gearin G.; Hall J.L.; Hensley G.; Johnson E.; Jones C.; Kamat A.; Kaur A.; Locke D.P.; Madan A.; Munson G.; Jaffe D.B.; Lui A.; Macdonald P.; Mauceli E.; Naylor J.W.; Nesbitt R.; Nicol R.; O'Leary S.B.; Ratcliffe A.; Rounsley S.; She X.; Sneddon K.M.B.; Stewart S.; Sougnez C.; Stone S.M.; Topham K.; Vincent D.; Wang S.; Zimmer A.R.; Birren B.W.; Hood L.; Lander E.S.; Nusbaum C.;
Nature 440:671-675(2006)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS GLN-679 AND SER-698; 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] (ISOFORMS 1; 2 AND 4); VARIANTS GLN-679 AND SER-698;

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.