Variant position: 337 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 575 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 VRVHGDPAVWWVSQFVKYLI RPQPWLEKEIEEATKKLGFKH-
Chimpanzee VRVHGDPAVWWVSQFVKYLI RPQPWLEKEIEEATKKLGFKH
Mouse LRVHGDPAVWWVSQFVKYLI RPQPWLEKEIEEATKKLGFKH
Rat VRVHGDPAVWWVSQFVKYLI RPQPWLEKEIEEATKKLGFKH
Pig VRVHGDPAVWWVSQFVKYLI RPQPWLEKEIEEATKKLGFKH
Bovine VRVHGDPAVWWVSQFVKYLI RPQPWLEKEIEEATKKLGFKH
Xenopus tropicalis IRLHGDPAVWWVSQFVKYLI RPQPWLEKEIEESTKKLGFKH
Caenorhabditis elegans TSLHSHPPAFFVGTFISYLM RFNSATQEKLDKALKSIPLDK
Drosophila KRLHGDPIVWWVGQFLKYLL RPQPTTRDFLTSGMRNLGWER
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
1 – 575 Alpha-(1,6)-fucosyltransferase
31 – 575 Lumenal
206 – 493 GT23
15 – 420 Missing. In isoform 4.
330 – 575 Missing. In isoform 2.
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Ng B.G.; Xu G.; Chandy N.; Steyermark J.; Shinde D.N.; Radtke K.; Raymond K.; Lebrilla C.B.; AlAsmari A.; Suchy S.F.; Powis Z.; Faqeih E.A.; Berry S.A.; Kronn D.F.; Freeze H.H.;
Am. J. Hum. Genet. 102:188-195(2018)
Cited for: INVOLVEMENT IN CDGF1; VARIANTS CDGF1 239-ARG--LYS-575 DEL; 315-ARG--LYS-557 DEL AND GLY-337; FUNCTION; CHARACTERIZATION OF VARIANTS CDGF1 239-ARG--LYS-575 DEL; 315-ARG--LYS-557? DEL AND GLY-337;
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.