Home  |  Contact

UniProtKB/Swiss-Prot Q9Y5Z9: Variant p.Leu121Phe

UbiA prenyltransferase domain-containing protein 1
Gene: UBIAD1
Chromosomal location: 1p36.22
Variant information

Variant position:  121
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Phenylalanine (F) at position 121 (L121F, p.Leu121Phe).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (L) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]: A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared. {ECO:0000269|PubMed:17668063, ECO:0000269|PubMed:17962451, ECO:0000269|PubMed:18176953, ECO:0000269|PubMed:19429578, ECO:0000269|PubMed:19649163, ECO:0000269|PubMed:20489584, ECO:0000269|PubMed:20505825, ECO:0000269|PubMed:23169578, ECO:0000269|PubMed:23374346}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In SCCD.
Any additional useful information about the variant.



Sequence information

Variant position:  121
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:   VNTYYDFSKGIDHKKSDDRT  L VDRILEPQDVVRFGVFLYTL
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                         VNTYYDFSKGID-HKKSDDRTLVDRILEPQDVVRFGVFLYTL

Mouse                         VNTYYDFSKGID-HKKSDDRTLVDRILEPQDVVRFGVFLYT

Rat                           VNTYYDFSKGID-HKKSDDRTLVDRILEPQDVVRFGVFLYT

Chicken                       VNTYYDFSKGID-HKKSDDRTLVDQILEPQDVVRFGVFLYT

Xenopus tropicalis            VNTYYDFSKGID-HKKSDDRTLVDHILEPQDVVRFGVFLYT

Zebrafish                     VNTYYDFSKGID-HKKSDDRTLVDQILKPQDVVMFGAVLYS

Drosophila                    VNTYFDFIKGID-KQKADDRTLVDHILTKDEVVSLGAILYM

Slime mold                    VNSFYDCKNGNDTKEKSADRTMFDFGLTEGNIINLIWYLLI

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.

TypePositionsDescription
Chain 2 – 338 UbiA prenyltransferase domain-containing protein 1


Literature citations

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;

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.