Sequence information
Variant position: 98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 338 The length of the canonical sequence.
Location on the sequence:
VLDPRLLVGCAVAVLAVHGA
G NLVNTYYDFSKGIDHKKSDD
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 VLDPRLLVGCAVAVLAVHGAG NLVNTYYDFSKGID-HKKSDD
Mouse VLDPRLLLGCAVAVLAVHGAG NLVNTYYDFSKGID-HKKSD
Rat VLDPRLLLGCAVAVLAVHGAG NLVNTYYDFSKGID-HKKSD
Chicken ALDPRLLVGSAVAVLAVHGAG NLVNTYYDFSKGID-HKKSD
Xenopus tropicalis SLDLLLFVVCAVAVLAVHGAG NLVNTYYDFSKGID-HKKSD
Zebrafish SVDLLLLLVCAVAVLLVHGAG NLVNTYYDFSKGID-HKKSD
Drosophila EFSLATFFLTAFTVVTVHCAG NVVNTYFDFIKGID-KQKAD
Slime mold EFDSIMLSIILVGAVSLQALG NVVNSFYDCKNGNDTKEKSA
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
2 – 338
UbiA prenyltransferase domain-containing protein 1
Transmembrane
83 – 103
Helical
Literature citations
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
Jing Y.; Liu C.; Xu J.; Wang L.;
Mol. Vis. 15:1463-1469(2009)
Cited for: VARIANT SCCD SER-98;
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.