UniProtKB/Swiss-Prot P51993: Variant p.Glu247Lys

4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6
Gene: FUT6
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Variant information Variant position:

247 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 Glutamate (E) to Lysine (K) at position 247 (E247K, p.Glu247Lys). 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 acidic (E) to large size and basic (K) 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:

Expression of alpha(1,3)-fucosyltransferase in plasma can vary among different populations. 9% of individuals on the isle of Java (Indonesia) do not express this enzyme. Ninety-five percent of plasma alpha(1,3)-fucosyltransferase-deficient individuals have Lewis negative phenotype on red cells, suggesting strong linkage disequilibrium between these two traits. Variations in FUT6 are responsible for plasma alpha(1,3)-fucosyltransferase deficiency [MIM:613852]. Additional information on the polymorphism described.
Variant description:

Found in individuals with plasma alpha(1,3)-fucosyltransferase deficiency and no clinically relevant phenotype; complete enzyme inactivation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs17855739 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PLPQGTMMETLSRYKFYLAF E NSLHPDYITEKLWRNALEAW 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                         PLPQGTMMETLSRYKFYLAFENSLHPDYITEKLWRNALEAW

Gorilla                       SLPQGTMMETLSRYKFYLAFENSLHPDYITEKLWRNALEAW

Chimpanzee                    PLPQGTMMETLSRYKFYLAFENSLHPDYITEKLWRNALEAW

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 – 359	4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6
Topological domain	35 – 359	Lumenal

Literature citations
Molecular basis for plasma alpha(1,3)-fucosyltransferase gene deficiency (FUT6).
Mollicone R.; Reguigne I.; Fletcher A.; Aziz A.; Rustam M.; Weston B.W.; Kelly R.J.; Lowe J.B.; Oriol R.;
J. Biol. Chem. 269:12662-12671(1994)
Cited for: POLYMORPHISM; VARIANT LYS-247; CHARACTERIZATION OF VARIANT LYS-247; Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) alleles.
Elmgren A.; Borjeson C.; Mollicone R.; Oriol R.; Fletcher A.; Larson G.;
Hum. Mutat. 16:473-481(2000)
Cited for: VARIANTS SER-124; VAL-244; LYS-247 AND GLY-303; CHARACTERIZATION OF VARIANTS SER-124; VAL-244; LYS-247 AND GLY-303; Analysis of protein-coding genetic variation in 60,706 humans.
Lek M.; Karczewski K.J.; Minikel E.V.; Samocha K.E.; Banks E.; Fennell T.; O'Donnell-Luria A.H.; Ware J.S.; Hill A.J.; Cummings B.B.; Tukiainen T.; Birnbaum D.P.; Kosmicki J.A.; Duncan L.E.; Estrada K.; Zhao F.; Zou J.; Pierce-Hoffman E.; Berghout J.; Cooper D.N.; Deflaux N.; DePristo M.; Do R.; Flannick J.; Fromer M.; Gauthier L.; Goldstein J.; Gupta N.; Howrigan D.; Kiezun A.; Kurki M.I.; Moonshine A.L.; Natarajan P.; Orozco L.; Peloso G.M.; Poplin R.; Rivas M.A.; Ruano-Rubio V.; Rose S.A.; Ruderfer D.M.; Shakir K.; Stenson P.D.; Stevens C.; Thomas B.P.; Tiao G.; Tusie-Luna M.T.; Weisburd B.; Won H.H.; Yu D.; Altshuler D.M.; Ardissino D.; Boehnke M.; Danesh J.; Donnelly S.; Elosua R.; Florez J.C.; Gabriel S.B.; Getz G.; Glatt S.J.; Hultman C.M.; Kathiresan S.; Laakso M.; McCarroll S.; McCarthy M.I.; McGovern D.; McPherson R.; Neale B.M.; Palotie A.; Purcell S.M.; Saleheen D.; Scharf J.M.; Sklar P.; Sullivan P.F.; Tuomilehto J.; Tsuang M.T.; Watkins H.C.; Wilson J.G.; Daly M.J.; MacArthur D.G.;
Nature 536:285-291(2016)
Cited for: VARIANTS SER-124; LYS-247 AND GLY-303;

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.