UniProtKB/Swiss-Prot Q9Y5Z9: Variant p.Asn102Ser

UbiA prenyltransferase domain-containing protein 1
Gene: UBIAD1
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Variant information Variant position:

102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Asparagine (N) to Serine (S) at position 102 (N102S, p.Asn102Ser). 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 polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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
Variant description:

In SCCD; reduced menaquinone-4 (MK-4) synthesis; does not affect coenzyme Q10 synthesis. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs118203945 [ dbSNP | Ensembl ]

Sequence information Variant position:

102 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:

RLLVGCAVAVLAVHGAGNLV N TYYDFSKGIDHKKSDDRTLV 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                         RL--LVGCAVAVLAVHGAGNLVNTYYDFSKGIDHK-KSDDRTLV

Mouse                         RL--LLGCAVAVLAVHGAGNLVNTYYDFSKGIDHK-KSDDR

Rat                           RL--LLGCAVAVLAVHGAGNLVNTYYDFSKGIDHK-KSDDR

Chicken                       RL--LVGSAVAVLAVHGAGNLVNTYYDFSKGIDHK-KSDDR

Xenopus tropicalis            LL--FVVCAVAVLAVHGAGNLVNTYYDFSKGIDHK-KSDDR

Zebrafish                     LL--LLVCAVAVLLVHGAGNLVNTYYDFSKGIDHK-KSDDR

Drosophila                    SLATFFLTAFTVVTVHCAGNVVNTYFDFIKGIDKQ-KADDR

Slime mold                    IM--LSIILVGAVSLQALGNVVNSFYDCKNGNDTKEKSADR

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
Transmembrane	83 – 103	Helical

Literature citations
Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis.
Mugoni V.; Postel R.; Catanzaro V.; De Luca E.; Turco E.; Digilio G.; Silengo L.; Murphy M.P.; Medana C.; Stainier D.Y.; Bakkers J.; Santoro M.M.;
Cell 152:504-518(2013)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS SCCD SER-102 AND GLY-112; Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.
Weiss J.S.; Kruth H.S.; Kuivaniemi H.; Tromp G.; White P.S.; Winters R.S.; Lisch W.; Henn W.; Denninger E.; Krause M.; Wasson P.; Ebenezer N.; Mahurkar S.; Nickerson M.L.;
Invest. Ophthalmol. Vis. Sci. 48:5007-5012(2007)
Cited for: VARIANTS SCCD SER-102 AND ARG-177; Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
Orr A.; Dube M.-P.; Marcadier J.; Jiang H.; Federico A.; George S.; Seamone C.; Andrews D.; Dubord P.; Holland S.; Provost S.; Mongrain V.; Evans S.; Higgins B.; Bowman S.; Guernsey D.; Samuels M.;
PLoS ONE 2:E685-E685(2007)
Cited for: VARIANTS SCCD SER-102; GLY-112; GLY-119; ILE-175 AND SER-232; VARIANT PHE-75; 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; 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; 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;

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.