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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19526: Variant p.Asp148Tyr

Galactoside alpha-(1,2)-fucosyltransferase 1
Gene: FUT1
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Variant information Variant position: help 148 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Aspartate (D) to Tyrosine (Y) at position 148 (D148Y, p.Asp148Tyr). 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: help Change from medium size and acidic (D) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help Genetic variations in FUT1 define the H blood group and are responsible for the Bombay and para-Bombay phenotypes [MIM:616754]. Erythrocytes from individuals with the Bombay and para-Bombay blood group phenotypes are deficient in H antigens. Additional information on the polymorphism described.
Variant description: help Found in individuals with para-Bombay phenotype; allele H4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 148 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 365 The length of the canonical sequence.
Location on the sequence: help LPVLAPEVDSRTPWRELQLH D WMSEEYADLRDPFLKLSGFP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         LPVLAPEVDSRTPWRELQLHDWMSEEYADLRDPFLKLSGFP

Gorilla                       LPVLAPEVDSRTPWRELQLHDWMSEEYADLGDPFLKLSGFP

Chimpanzee                    LPVLAPEADSRTPWRELQLHDWMSEEYADLRDPFLKLSGFP

Mouse                         LPVLDPEVDSLTPWQHLVLHDWMSEEYSHLEDPFLKLSGFP

Rat                           LPVLDPEVDSLTPWQHLVLHDWMSEEYSHLEDPFLKLSGFP

Pig                           LPVLAPEVDRHAPWRELELHDWMSEDYAHLKEPWLKLTGFP

Bovine                        LPVLAPEVDRHAPWQELELHDWMSEEYAHLKEPWLKLTGFP

Rabbit                        LPVLAPEVNRRTSWKQLLLHDWMSEEYSRLEDPFLKFTGFP

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 365 Galactoside alpha-(1,2)-fucosyltransferase 1
Topological domain 26 – 365 Lumenal



Literature citations
Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals which inactivate H enzyme.
Kaneko M.; Nishihara S.; Shinya N.; Kudo T.; Iwasaki H.; Seno T.; Okubo Y.; Narimatsu H.;
Blood 90:839-849(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; INVOLVEMENT IN BOMBAY AND PARA-BOMBAY PHENOTYPES; VARIANTS TYR-148; HIS-154; HIS-241 AND LYS-348;
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.