UniProtKB/Swiss-Prot P02765: Variant p.Met248Thr

Alpha-2-HS-glycoprotein
Gene: AHSG
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Variant information Variant position:

248 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 Methionine (M) to Threonine (T) at position 248 (M248T, p.Met248Thr). 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 hydrophobic (M) 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 rs4917 [ dbSNP | Ensembl ]

Sequence information Variant position:

248 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:

GFCKATLSEKLGGAEVAVTC M VFQTQPVSSQPQPEGANEAV 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                         GFCKATLSEK-LGGAEVAVTCMVFQTQPVSSQPQPEGANEAV

Chimpanzee                    GFCKATLSEK-LGGAEVAVTCTVFQTQPVTSQPQPEGANET

Mouse                         GFCKANLMHN-LGGEEVSVACKLFQT-----QPQPANANAV

Rat                           GFCKATLIHR-LGGEEVSVACKLFQT-----QPQPANANPA

Bovine                        GFCKGSVIQKALGGEDVRVTCTLFQTQPVIPQPQPDGAEAE

Sheep                         GFCKGSVIQKALGGEDVTVTCTLFQTQPVIPQPQPEGAEAG

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
Domain	144 – 255	Cystatin fetuin-A-type 2
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.