Sequence information
Variant position: 121 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:
VNTYYDFSKGIDHKKSDDRT
L VDRILEPQDVVRFGVFLYTL
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 VNTYYDFSKGID-HKKSDDRTL VDRILEPQDVVRFGVFLYTL
Mouse VNTYYDFSKGID-HKKSDDRTL VDRILEPQDVVRFGVFLYT
Rat VNTYYDFSKGID-HKKSDDRTL VDRILEPQDVVRFGVFLYT
Chicken VNTYYDFSKGID-HKKSDDRTL VDQILEPQDVVRFGVFLYT
Xenopus tropicalis VNTYYDFSKGID-HKKSDDRTL VDHILEPQDVVRFGVFLYT
Zebrafish VNTYYDFSKGID-HKKSDDRTL VDQILKPQDVVMFGAVLYS
Drosophila VNTYFDFIKGID-KQKADDRTL VDHILTKDEVVSLGAILYM
Slime mold VNSFYDCKNGNDTKEKSADRTM FDFGLTEGNIINLIWYLLI
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
Literature citations
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.
Weiss J.S.; Kruth H.S.; Kuivaniemi H.; Tromp G.; Karkera J.; Mahurkar S.; Lisch W.; Dupps W.J. Jr.; White P.S.; Winters R.S.; Kim C.; Rapuano C.J.; Sutphin J.; Reidy J.; Hu F.-R.; Lu da W.; Ebenezer N.; Nickerson M.L.;
Am. J. Med. Genet. A 146:271-283(2008)
Cited for: VARIANTS SCCD SER-102; GLY-118; PHE-121; PRO-171; ILE-175; ARG-177; ARG-186 AND GLU-236;
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.