Variant position: 177 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 LEHLALIYFGGLSGSFLYTG GIGFKYVALGDLIILITFGPL
Mouse LEHLALIYFGGLSGSFLYTG GIGFKYVALGDLVILITFGPL
Rat LEHLALIYFGGLSGSFLYTG GIGFKYVALGDLVILITFGPL
Chicken LEHLALVYFGGLSSSFLYTG GIGFKYVALGDVVILITFGPL
Xenopus tropicalis LEHLALIYFGGLSSSFLYTG GIGFKYVALGDLVILITFGPL
Zebrafish LEHLALIYFGGLSSSFLYTG GIGLKYVALGDVVILITFGPL
Drosophila MEHLALIYFGGLSSSFLYTG GIGFKYIALGDLVILILFGPI
Slime mold ENILPLGAFGFILNISYTAA PIGLKYIGLGDLTIFLCFGPI
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
177 – 179 GIG -> VLI. In isoform 2.
The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymes.
Nickerson M.L.; Bosley A.D.; Weiss J.S.; Kostiha B.N.; Hirota Y.; Brandt W.; Esposito D.; Kinoshita S.; Wessjohann L.; Morham S.G.; Andresson T.; Kruth H.S.; Okano T.; Dean M.;
Hum. Mutat. 34:317-329(2013)
Cited for: VARIANT GLU-177; CHARACTERIZATION OF VARIANTS SCCD SER-102; ASN-112; GLU-177 AND ARG-177; INTERACTION WITH HMGCR AND SOAT1;
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.