Variant position: 478 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 507 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 VTLDPPQKLPDLFSVLVCFV SCLNFLFFLVYFNIIIMWDSK
Mouse VTLDPPQKLPDLFPVLICFV SCVNFVFFLVYFNIVIMWDSK
Rat VTLDPPQKLPDLFSVLICFV SCVNFVFFLVYFNIVIMWDSK
Chicken AAVHPPQRFPDLFPVSVSSI SCLHFLFFLVYFNVIILWDSK
Caenorhabditis elegans LYGPSNQRFPHIYQLANAFF SCVHFIYFLLYLSFASFEKTK
Drosophila LTVPAPTKYPDLWPLIISVT SCGHFFLFFLWGNVQQFSSKL
Slime mold QFAPHPPHLPSLWLLLVCNF SFIHFILTFFYFIKEMTTFSP
Baker's yeast QFVAPPSKYPDLWVLLNCAV GFICFSIFWLWSYYKIFTSGS
Fission yeast LFIPPPSRYPDLWVILNVTL SFAGFFTIYLWTLGRLLHISS
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 – 507 Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
473 – 493 Helical
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
Imbach T.; Gruenewald S.; Schenk B.; Burda P.; Schollen E.; Wevers R.A.; Jaeken J.; de Klerk J.B.C.; Berger E.G.; Matthijs G.; Aebi M.; Hennet T.;
Hum. Genet. 106:538-545(2000)
Cited for: VARIANTS CDG1C VAL-333 AND PRO-478; VARIANT PHE-304;
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.