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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9GZX3: Variant p.Leu200Arg

Carbohydrate sulfotransferase 6
Gene: CHST6
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Variant information Variant position: help 200 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Leucine (L) to Arginine (R) at position 200 (L200R, p.Leu200Arg). 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: help Change from medium size and hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In MCD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 200 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 395 The length of the canonical sequence.
Location on the sequence: help NLQVLYPLLSDPALNLRIVH L VRDPRAVLRSREQTAKALAR 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.
Sequence annotation in neighborhood: help 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 1 – 395 Carbohydrate sulfotransferase 6
Topological domain 27 – 395 Lumenal



Literature citations
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
El-Ashry M.F.; El-Aziz M.M.; Wilkins S.; Cheetham M.E.; Wilkie S.E.; Hardcastle A.J.; Halford S.; Bayoumi A.Y.; Ficker L.A.; Tuft S.; Bhattacharya S.S.; Ebenezer N.D.;
Invest. Ophthalmol. Vis. Sci. 43:377-382(2002)
Cited for: VARIANTS MCD SER-31; SER-72; SER-107; ARG-200 AND VAL-206; Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.
Niel F.; Ellies P.; Dighiero P.; Soria J.; Sabbagh C.; San C.; Renard G.; Delpech M.; Valleix S.;
Invest. Ophthalmol. Vis. Sci. 44:2949-2953(2003)
Cited for: VARIANTS MCD PRO-15; THR-61; HIS-68; LEU-70; GLY-102; PRO-131; PRO-152; PRO-166; ARG-200 AND GLN-204; Novel mutations in the CHST6 gene causing macular corneal dystrophy.
Abbruzzese C.; Kuhn U.; Molina F.; Rama P.; De Luca M.;
Clin. Genet. 65:120-125(2004)
Cited for: VARIANTS MCD GLY-102; GLY-162; GLU-198 AND ARG-200; Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.
Aldave A.J.; Yellore V.S.; Thonar E.J.; Udar N.; Warren J.F.; Yoon M.K.; Cohen E.J.; Rapuano C.J.; Laibson P.R.; Margolis T.P.; Small K.;
Am. J. Ophthalmol. 137:465-473(2004)
Cited for: VARIANTS MCD LEU-51; SER-72; GLY-102; VAL-104; CYS-110; PRO-122; ARG-200 AND PRO-276; Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
El-Ashry M.F.; Abd El-Aziz M.M.; Shalaby O.; Wilkins S.; Poopalasundaram S.; Cheetham M.; Tuft S.J.; Hardcastle A.J.; Bhattacharya S.S.; Ebenezer N.D.;
Am. J. Ophthalmol. 139:192-193(2005)
Cited for: VARIANTS MCD ARG-200; PRO-276 AND ASP-358;
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.