Variant position: 269 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:
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 LYNDSPVKDEVVVNDRWGQN CSCHHGGYYNCEDKFKPQSLP
Mouse LYNDSPVKDEVIVNDRWGQN CSCHHGGYYNCQDKYKPQSLP
Rat LYNESPVKDQVVVNDRWGQN CSCRHGGYYNCEDKYRPHSLP
Bovine LYNDSPVKDEVVVNDRWGQN CSCHHGGYYNCKDKFQPETLP
Caenorhabditis elegans LYNSSPVKDQVVVNDRWGTG TMGKHGGFMTYSDHYDPGKLL
Drosophila LYNDSPVRDTVVTNDRWGFG TACMHGDFYNCADRFNPGVLQ
Slime mold LYTNSSVKDTVIVNDRWGSE CRDKNGGFYTGADHFNPYKLQ
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
32 – 466 Tissue alpha-L-fucosidase
268 – 268 N-linked (GlcNAc...) asparagine
Human alpha-L-fucosidase: complete coding sequence from cDNA clones.
Occhiodoro T.; Beckmann K.R.; Morris C.P.; Hopwood J.J.;
Biochem. Biophys. Res. Commun. 164:439-445(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-466; VARIANT SER-269;
Molecular biology of the alpha-6L-fucosidase gene and fucosidosis.
O'Brien J.S.; Willems P.J.; Fukushima H.; de Wet J.R.; Darby J.K.; Dicioccio R.A.; Fowler M.L.; Shows T.B.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 75-426; VARIANT SER-269;
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;
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.