UniProtKB/SwissProt variant VAR

Variant information

Variant position:

256

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 Serine (S) to Threonine (T) at position 256 (S256T, p.Ser256Thr).

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 small size and polar (S) to medium size and polar (T)

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

Polymorphism:

There are two common alleles, AHSG*1 and AHSG*2. AHSG*1 has Thr-248/Thr-256; AHSG*2 has Met-248/Ser-256.

Additional information on the polymorphism described.

Variant description:

In allele AHSG*1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs4918 [ dbSNP | Ensembl ]

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-LGGAEVAVTCMVFQTQPVSSQPQPEGANEAVP-----TPVVDPD

Chimpanzee                    EK-LGGAEVAVTCTVFQTQPVTSQPQPEGANETVP-----T

Mouse                         HN-LGGEEVSVACKLFQTQP-----QPANANAVGP-----V

Rat                           HR-LGGEEVSVACKLFQTQP-----QPANANPAGP-----A

Bovine                        QKALGGEDVRVTCTLFQTQPVIPQPQPDGAEAEAP-----S

Sheep                         QKALGGEDVTVTCTLFQTQPVIPQPQPEGAEAGAPSAVPDA

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02765: Variant p.Ser256Thr