UniProtKB/SwissProt variant VAR

N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
Gene: AGA
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Variant information Variant position:

149
Type of variant:

LB/B
Residue change:

From Threonine (T) to Serine (S) at position 149 (T149S, p.Thr149Ser).
Physico-chemical properties:

Change from medium size and polar (T) to small size and polar (S)
BLOSUM score:

1
Other resources:

Variant rs2228119 [ dbSNP | Ensembl ]

Sequence information Variant position:

149
Protein sequence length:

346
Location on the sequence:

GESATTFAQSMGFINEDLST T ASQALHSDWLARNCQPNYWR
Residue conservation:

Human                         GESATTFAQSMGFINEDLSTTASQALHSDWLARNCQPNYWR

Mouse                         GDSATKFAESMGFTNEDLSTKTSRDLHSDWLSRNCQPNYWR

Rat                           GDSATKFAVSMGFTSEDLSTNTSRALHSDWLSRNCQPNYWR

Caenorhabditis elegans        GESATQFAKTLGFKEEDLSTEETKSWISKWKTEKCQPNFWK

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	24 – 205	Glycosylasparaginase alpha chain
Helix	149 – 160

Literature citations
Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase.
Fisher K.J.; Tollersrud O.-K.; Aronson N.N. Jr.;
FEBS Lett. 269:440-444(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; CATALYTIC ACTIVITY; VARIANT SER-149; GLYCOSYLATION; Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
Ikonen E.; Baumann M.; Groen K.; Syvaenen A.-C.; Enomaa N.; Halila R.; Aula P.; Peltonen L.;
EMBO J. 10:51-58(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 206-235; ACTIVATION BY CLEAVAGE; CATALYTIC ACTIVITY; VARIANTS AGU GLN-161 AND SER-163; VARIANT SER-149; CHARACTERIZATION OF VARIANT AGU SER-163; FUNCTION; Genomic structure of human lysosomal glycosylasparaginase.
Park H.; Fisher K.J.; Aronson N.N. Jr.;
FEBS Lett. 288:168-172(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT SER-149; Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163-->Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
Fisher K.J.; Aronson N.N. Jr.;
J. Biol. Chem. 266:12105-12113(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; AUTOCATALYTIC CLEAVAGE; CATALYTIC ACTIVITY; VARIANTS AGU GLN-161 AND SER-163; VARIANT SER-149; FUNCTION; 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]; VARIANT SER-149; Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).
Halleck A.; Ebert L.; Mkoundinya M.; Schick M.; Eisenstein S.; Neubert P.; Kstrang K.; Schatten R.; Shen B.; Henze S.; Mar W.; Korn B.; Zuo D.; Hu Y.; LaBaer J.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT SER-149; 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 SER-149; 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]; VARIANT SER-149;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20933: Variant p.Thr149Ser