Sequence information
Variant position: 268 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 354 The length of the canonical sequence.
Location on the sequence:
RRPQSQAYIPKDEGDFYYLG
G FFGGSVQEVQRLTRACHQAM
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 RRPQSQAYIPKDEGDFYYLGG FFGGSVQEVQRLTRACHQAM
Mouse RRPQSQAYIPWDRGDFYYGGA FFGGSVLEVYHLTKACHEAM
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
1 – 354
Histo-blood group ABO system transferase
Chain
54 – 354
Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form
Topological domain
54 – 354
Lumenal
Literature citations
Aberrant intracellular trafficking of a variant B glycosyltransferase.
Seltsam A.; Gruger D.; Just B.; Figueiredo C.; Gupta C.D.; Deluca D.S.; Blasczyk R.;
Transfusion 48:1898-1905(2008)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; POLYMORPHISM; VARIANTS ARG-230; SER-235; MET-266 AND ALA-268;
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; POLYMORPHISM; VARIANTS ARG-35; PHE-36; HIS-63; SER-74; LEU-156; HIS-161; GLY-176; CYS-199; ILE-216; SER-235; MET-266; ALA-268 AND MET-277;
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]; POLYMORPHISM; VARIANTS GLY-176; SER-235; MET-266 AND ALA-268;
The nature of diversity and diversification at the ABO locus.
Seltsam A.; Hallensleben M.; Kollmann A.; Blasczyk R.;
Blood 102:3035-3042(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 11-354; POLYMORPHISM; VARIANTS SER-74; LEU-156; MET-163; GLY-176; TRP-198; SER-235; MET-266; ALA-268; ARG-268; ARG-288 AND MET-346;
Molecular genetic analysis of variant phenotypes of the ABO blood group system.
Ogasawara K.; Yabe R.; Uchikawa M.; Saitou N.; Bannai M.; Nakata K.; Takenaka M.; Fujisawa K.; Ishikawa Y.; Juji T.; Tokunaga K.;
Blood 88:2732-2737(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 81-354; POLYMORPHISM; VARIANTS LEU-156; GLY-176; ARG-214; ILE-216; ASP-223; SER-235; MET-266; ALA-268; MET-277; ASN-291; GLY-352 AND TRP-352;
Evolution of the O alleles of the human ABO blood group gene.
Roubinet F.; Despiau S.; Calafell F.; Jin F.; Bertanpetit J.; Saitou N.; Blancher A.;
Transfusion 44:707-715(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 11-354; POLYMORPHISM; VARIANTS GLY-176; SER-235; MET-266 AND ALA-268;
Animal histo-blood group ABO genes.
Kominato Y.; McNeill P.D.; Yamamoto M.; Russell M.; Hakomori S.; Yamamoto F.;
Biochem. Biophys. Res. Commun. 189:154-164(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 146-334; POLYMORPHISM; VARIANTS MET-266 AND ALA-268;
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.