Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y5Z9: Variant p.Ala97Thr

UbiA prenyltransferase domain-containing protein 1
Gene: UBIAD1
Feedback?
Variant information Variant position: help 97
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Threonine (T) at position 97 (A97T, p.Ala97Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Variant description: help In SCCD.


Sequence information Variant position: help 97
Protein sequence length: help 338
Location on the sequence: help GVLDPRLLVGCAVAVLAVHG A GNLVNTYYDFSKGIDHKKSD
Residue conservation: help 
Human                         GVLDPRL--LVGCAVAVLAVHGAGNLVNTYYDFSKGIDHK-KSD

Mouse                         GVLDPRL--LLGCAVAVLAVHGAGNLVNTYYDFSKGIDHK-

Rat                           GVLDPRL--LLGCAVAVLAVHGAGNLVNTYYDFSKGIDHK-

Chicken                       GALDPRL--LVGSAVAVLAVHGAGNLVNTYYDFSKGIDHK-

Xenopus tropicalis            GSLDLLL--FVVCAVAVLAVHGAGNLVNTYYDFSKGIDHK-

Zebrafish                     GSVDLLL--LLVCAVAVLLVHGAGNLVNTYYDFSKGIDHK-

Drosophila                    WAEEFSLATFFLTAFTVVTVHCAGNVVNTYFDFIKGIDKQ-

Slime mold                    REFDSIM--LSIILVGAVSLQALGNVVNSFYDCKNGNDTKE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 338 UbiA prenyltransferase domain-containing protein 1
Transmembrane 83 – 103 Helical



Literature citations
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;
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.