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[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND PROTEIN SEQUENCE OF 1-16.
TISSUE=Leukocyte;
DOI=10.1111/j.1432-1033.1995.tb20703.x; PubMed=7635144 [NCBI, ExPASy, EBI, Israel, Japan]
Tan J.,
D'Agostaro A.F.,
Bendiak B.,
Reck F.,
Sarkar M.,
Squire J.A.,
Leong P.,
Schachter H.;
"The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2-N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein.";
Eur. J. Biochem. 231:317-328(1995).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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VARIANTS CDG2A ARG-262 AND PHE-290.
PubMed=8808595 [NCBI, ExPASy, EBI, Israel, Japan]
Tan J.,
Dunn J.,
Jaeken J.,
Schachter H.;
"Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.";
Am. J. Hum. Genet. 59:810-817(1996).
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[4]
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VARIANT CDG2A ASP-318.
DOI=10.1136/jmg.37.11.875; PubMed=11228641 [NCBI, ExPASy, EBI, Israel, Japan]
Cormier-Daire V.,
Amiel J.,
Vuillaumier-Barrot S.,
Tan J.,
Durand G.,
Munnich A.,
Le Merrer M.,
Seta N.;
"Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.";
J. Med. Genet. 37:875-877(2000).
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 447 AA [This is the length of the unprocessed precursor] |
Molecular weight: 51550 Da [This is the MW of the unprocessed precursor] |
CRC64: 533B76D08BD8A572 [This is a checksum on the sequence] |
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10 20 30 40 50 60
MRFRIYKRKV LILTLVVAAC GFVLWSSNGR QRKNEALAPP LLDAEPARGA GGRGGDHPSV
70 80 90 100 110 120
AVGIRRVSNV SAASLVPAVP QPEADNLTLR YRSLVYQLNF DQTLRNVDKA GTWAPRELVL
130 140 150 160 170 180
VVQVHNRPEY LRLLLDSLRK AQGIDNVLVI FSHDFWSTEI NQLIAGVNFC PVLQVFFPFS
190 200 210 220 230 240
IQLYPNEFPG SDPRDCPRDL PKNAALKLGC INAEYPDSFG HYREAKFSQT KHHWWWKLHF
250 260 270 280 290 300
VWERVKILRD YAGLILFLEE DHYLAPDFYH VFKKMWKLKQ QECPECDVLS LGTYSASRSF
310 320 330 340 350 360
YGMADKVDVK TWKSTEHNMG LALTRNAYQK LIECTDTFCT YDDYNWDWTL QYLTVSCLPK
370 380 390 400 410 420
FWKVLVPQIP RIFHAGDCGM HHKKTCRPST QSAQIESLLN NNKQYMFPET LTISEKFTVV
430 440
AISPPRKNGG WGDIRDHELC KSYRRLQ
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Q10469 in FASTA format |
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ExPASy Home page
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