Sequence information
Variant position: 256 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 367 The length of the canonical sequence.
Location on the sequence:
EKLGGAEVAVTCMVFQTQPV
S SQPQPEGANEAVPTPVVDPD
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 EK-LGGAEVAVTCMVFQTQPVS SQPQPEGANEAVP-----TPVVDPD
Chimpanzee EK-LGGAEVAVTCTVFQTQPVT SQPQPEGANETVP-----T
Mouse HN-LGGEEVSVACKLFQTQP-- ---QPANANAVGP-----V
Rat HR-LGGEEVSVACKLFQTQP-- ---QPANANPAGP-----A
Bovine QKALGGEDVRVTCTLFQTQPVI PQPQPDGAEAEAP-----S
Sheep QKALGGEDVTVTCTLFQTQPVI PQPQPEGAEAGAPSAVPDA
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
19 – 300
Alpha-2-HS-glycoprotein chain A
Region
255 – 298
Disordered
Glycosylation
270 – 270
O-linked (GalNAc...) threonine
Disulfide bond
32 – 358
Interchain (between A and B chains)
Literature citations
Human alpha 2-HS-glycoprotein: the A and B chains with a connecting sequence are encoded by a single mRNA transcript.
Lee C.-C.; Bowman B.H.; Yang F.;
Proc. Natl. Acad. Sci. U.S.A. 84:4403-4407(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS THR-248 AND THR-256;
Structure of the gene encoding human alpha 2-HS glycoprotein (AHSG).
Osawa M.; Umetsu K.; Sato M.; Ohki T.; Yukawa N.; Suzuki T.; Takeichi S.;
Gene 196:121-125(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS THR-248 AND THR-256;
Haplotype analysis of the human alpha2-HS glycoprotein (fetuin) gene.
Osawa M.; Yuasa I.; Kitano T.; Henke J.; Kaneko M.; Udono T.; Saitou N.; Umetsu K.;
Ann. Hum. Genet. 65:27-34(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-248; THR-256; ASN-276 AND CYS-317;
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 THR-248 AND THR-256;
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 THR-248 AND THR-256;
Molecular evidence for human alpha 2-HS glycoprotein (AHSG) polymorphism.
Osawa M.; Umetsu K.; Ohki T.; Nagasawa T.; Suzuki T.; Takeichi S.;
Hum. Genet. 99:18-21(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 34-367; VARIANTS THR-248 AND THR-256; POLYMORPHISM;
Functional prediction of the coding sequences of 79 new genes deduced by analysis of cDNA clones from human fetal liver.
Zhang C.; Yu Y.; Zhang S.; Wei H.; Zhang Y.; Zhou G.; Bi J.; Liu M.; He F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 150-367; VARIANTS THR-248 AND THR-256;
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.