Sequence information
Variant position: 232 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:
IFPLVYAIPLALSTEAILHS
N NTRDMESDREAGIVTLAILI
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 IFPLVYAIPLALSTEAILHSN NTRDMESDREAGIVTLAILI
Mouse IFPLIYAIPLALSTEAILHSN NTRDMESDREAGIVTLAILI
Rat IFPLVYAIPLALSTEAILHSN NTRDMESDREAGIVTLAILI
Chicken VSPLLYAVPLALSTEAILHSN NTRDMESDQQAGIVTLAIII
Xenopus tropicalis VTPLLYAVPLALSTEAILHSN NTRDMESDRQAGIVTLAILV
Zebrafish VLPLVYAVPLALNTEAILHSN NTRDMDSDKQAGIVTLAILL
Drosophila WTTMGYAIPLALNTEAILHSN NTRDADNDRRAGIVTLAILI
Slime mold SLAYFYSIPLALTIVAVLHVN NTRDIKADTEAGSITLASKL
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
Alternative sequence
180 – 338
Missing. In isoform 2.
Literature citations
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
Orr A.; Dube M.-P.; Marcadier J.; Jiang H.; Federico A.; George S.; Seamone C.; Andrews D.; Dubord P.; Holland S.; Provost S.; Mongrain V.; Evans S.; Higgins B.; Bowman S.; Guernsey D.; Samuels M.;
PLoS ONE 2:E685-E685(2007)
Cited for: VARIANTS SCCD SER-102; GLY-112; GLY-119; ILE-175 AND SER-232; VARIANT PHE-75;
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.