UniProtKB/Swiss-Prot P19526: Variant p.Tyr241His

Galactoside alpha-(1,2)-fucosyltransferase 1
Gene: FUT1
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Variant information Variant position:

241 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 Tyrosine (Y) to Histidine (H) at position 241 (Y241H, p.Tyr241His). 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 large size and aromatic (Y) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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:

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:

Found in individuals with para-Bombay phenotype; allele H3. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs765114567 [ dbSNP | Ensembl ]

Sequence information Variant position:

241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

365 The length of the canonical sequence.
Location on the sequence:

RGDYLQVMPQRWKGVVGDSA Y LRQAMDWFRARHEAPVFVVT 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                         RGDYLQVMPQRWKGVVGDSAYLRQAMDWFRARHEAPVFVVT

Gorilla                       RGDYLQVMPQRWKGVVGDSAYLRQAMDWFRARHEAPVFVVT

Chimpanzee                    RGDYLQVMPQRWKGVVGDSAYLRQAMDWFRARHEAPVFVVT

Mouse                         RGDYLEVMPNRWKGVVGDRAYLQQAMDWFRARHKDPIFVVT

Rat                           RGDYLEVMPNRWKGVVGDRAYLQKAMDWFRARHKDPIFVVT

Pig                           RGDYLRVMPKRWKGVVGDGAYLQQAMDWFRARYEAPVFVVT

Bovine                        RGDYLQVMPLHWKGVVGDRAYLQQAMDWFRARHKAPIFVVT

Rabbit                        RGDYLQVMPQRWKGVVGDRAYLQQAMDWFRARHEAPIFVVT

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 – 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.