Variant position: 171 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:
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 Y----LSPLKLEHLALIYFGGLSG SFLYTGGIGFKYVALGDLIIL
Mouse Y----LSALKLEHLALIYFGGLSG SFLYTGGIGFKYVALGD
Rat Y----LSTLKLEHLALIYFGGLSG SFLYTGGIGFKYVALGD
Chicken A----VSTLKLEHLALVYFGGLSS SFLYTGGIGFKYVALGD
Xenopus tropicalis F----ISKLKLEHLALIYFGGLSS SFLYTGGIGFKYVALGD
Zebrafish F----LSSLKLEHLALIYFGGLSS SFLYTGGIGLKYVALGD
Drosophila V----LSPAKMEHLALIYFGGLSS SFLYTGGIGFKYIALGD
Slime mold FRMDNIKCIVENILPLGAFGFILN ISYTAAPIGLKYIGLGD
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
2 – 338 UbiA prenyltransferase domain-containing protein 1
160 – 180 Helical
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;
Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.
Mehta J.S.; Vithana E.N.; Venkataraman D.; Venkatraman A.; Yong V.H.; Aung T.; Tan D.T.;
Br. J. Ophthalmol. 93:926-931(2009)
Cited for: VARIANT SCCD PRO-171;
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.