UniProtKB/Swiss-Prot P04066: Variant p.Gln286Arg

Tissue alpha-L-fucosidase
Gene: FUCA1
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Variant information Variant position:

286 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 Glutamine (Q) to Arginine (R) at position 286 (Q286R, p.Gln286Arg). 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 polar (Q) to large size and basic (R) 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 of FUCA1; FUCA1*1; also known as Fu1; has Arg-281 and FUCA1*2; also known as Fu2; has Gln-281. Additional information on the polymorphism described.
Variant description:

In allele FUCA1*2. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs13551 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GQNCSCHHGGYYNCEDKFKP Q SLPDHKWEMCTSIDKFSWGY 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                         GQNCSCHHGGYYNCEDKFKPQSLPDHKWEMCTSIDKFSWGY

                              GQNCSCHHGGYYNCQDKYKPESLPDLKWEMCTSIDKVSWGY

Mouse                         GQNCSCHHGGYYNCQDKYKPQSLPDHKWEMCTSMDRASWGY

Rat                           GQNCSCRHGGYYNCEDKYRPHSLPDHKWEMCTSVDKASWGY

Bovine                        GQNCSCHHGGYYNCKDKFQPETLPDHKWEMCTSIDQRSWGY

Caenorhabditis elegans        GTGTMGKHGGFMTYSDHYDPGKLLEKKWENCMTLDKHSWGN

Drosophila                    GFGTACMHGDFYNCADRFNPGVLQAHKWENAFTLDRTSWGQ

Slime mold                    GSECRDKNGGFYTGADHFNPYKLQSHKWENCATIG-YSYGY

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	32 – 466	Tissue alpha-L-fucosidase
Site	296 – 296	May be important for catalysis
Glycosylation	268 – 268	N-linked (GlcNAc...) asparagine

Literature citations
Fucosidosis: four new mutations and a new polymorphism.
Seo H.-C.; Willems P.J.; Kretz K.A.; Martin B.M.; O'Brien J.S.;
Hum. Mol. Genet. 2:423-429(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT FUCA1D ASP-65; VARIANT ARG-286; 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]; VARIANT ARG-286; Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.
Yang M.; Allen H.; Dicioccio R.A.;
Biochim. Biophys. Acta 1182:245-249(1993)
Cited for: VARIANT ARG-286; Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.
Cragg H.; Winchester B.; Seo H.-C.; O'Brien J.S.; Swallow D.;
J. Med. Genet. 31:659-660(1994)
Cited for: VARIANT ARG-286; A novel FUCA1 mutation causing fucosidosis in a Chinese boy.
Ip P.; Goh W.; Chan K.W.; Cheung P.T.;
J. Inherit. Metab. Dis. 25:415-416(2002)
Cited for: VARIANTS SER-269 AND ARG-286;

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.