Variant position: 122 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 NTYYDFSKGID-HKKSDDRTL VDRILEPQDVVRFGVFLYTLG
Mouse NTYYDFSKGID-HKKSDDRTL VDRILEPQDVVRFGVFLYTL
Rat NTYYDFSKGID-HKKSDDRTL VDRILEPQDVVRFGVFLYTL
Chicken NTYYDFSKGID-HKKSDDRTL VDQILEPQDVVRFGVFLYTV
Xenopus tropicalis NTYYDFSKGID-HKKSDDRTL VDHILEPQDVVRFGVFLYTL
Zebrafish NTYYDFSKGID-HKKSDDRTL VDQILKPQDVVMFGAVLYSA
Drosophila NTYFDFIKGID-KQKADDRTL VDHILTKDEVVSLGAILYMA
Slime mold NSFYDCKNGNDTKEKSADRTM FDFGLTEGNIINLIWYLLIQ
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
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
Nickerson M.L.; Kostiha B.N.; Brandt W.; Fredericks W.; Xu K.P.; Yu F.S.; Gold B.; Chodosh J.; Goldberg M.; Lu da W.; Yamada M.; Tervo T.M.; Grutzmacher R.; Croasdale C.; Hoeltzenbein M.; Sutphin J.; Malkowicz S.B.; Wessjohann L.; Kruth H.S.; Dean M.; Weiss J.S.;
PLoS ONE 5:E10760-E10760(2010)
Cited for: VARIANTS SCCD THR-97; SER-102; ASN-112; GLY-122; GLU-122 AND HIS-188; SUBCELLULAR LOCATION;
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.