Sequence information
Variant position: 240 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:
PLALSTEAILHSNNTRDMES
D REAGIVTLAILIGPTFSYIL
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 PLALSTEAILHSNNTRDMESD REAGIVTLAILIGPTFSYIL
Mouse PLALSTEAILHSNNTRDMESD REAGIVTLAILIGPTFSYVL
Rat PLALSTEAILHSNNTRDMESD REAGIVTLAILIGPTLSYIL
Chicken PLALSTEAILHSNNTRDMESD QQAGIVTLAIIIGPAFSYVL
Xenopus tropicalis PLALSTEAILHSNNTRDMESD RQAGIVTLAILVGPMFSYML
Zebrafish PLALNTEAILHSNNTRDMDSD KQAGIVTLAILLGPTLSYVI
Drosophila PLALNTEAILHSNNTRDADND RRAGIVTLAILIGRTASHVL
Slime mold PLALTIVAVLHVNNTRDIKAD TEAGSITLASKLGFKNCYYI
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
Alternative sequence
180 – 338
Missing. In isoform 2.
Literature citations
Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.
Weiss J.S.; Wiaux C.; Yellore V.; Raber I.; Eagle R.; Mequio M.; Aldave A.;
Cornea 29:777-780(2010)
Cited for: VARIANT SCCD ASN-240;
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.