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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16678: Variant p.Glu229Lys

Cytochrome P450 1B1
Gene: CYP1B1
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Variant information Variant position: help 229 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 Glutamate (E) to Lysine (K) at position 229 (E229K, p.Glu229Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In GLC3A; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 229 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 543 The length of the canonical sequence.
Location on the sequence: help CFGCRYSHDDPEFRELLSHN E EFGRTVGAGSLVDVMPWLQY 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CFGCRYSHDDPEFRELLSHNEEFGRTVGAGSLVDVMPWLQY

Mouse                         CFGCRYNHDDAEFLELLSHNEEFGRTVGAGSLVDVLPWLQL

Rat                           CFGCRYNHDDAEFLELLSHNEEFGRTVGAGSLVDVMPWLQL
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 – 543 Cytochrome P450 1B1
Helix 228 – 235



Literature citations
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.
Panicker S.G.; Reddy A.B.M.; Mandal A.K.; Ahmed N.; Nagarajaram H.A.; Hasnain S.E.; Balasubramanian D.;
Invest. Ophthalmol. Vis. Sci. 43:1358-1366(2002)
Cited for: VARIANTS GLC3A GLU-61; LEU-193; LYS-229 AND HIS-368; VARIANTS GLY-48; SER-184 AND VAL-432; Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.
Colomb E.; Kaplan J.; Garchon H.-J.;
Hum. Mutat. 22:496-496(2003)
Cited for: VARIANTS GLC3A LYS-229; ARG-232; LYS-387; SER-390; SER-399 AND TYR-423; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453; CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
Melki R.; Colomb E.; Lefort N.; Brezin A.P.; Garchon H.-J.;
J. Med. Genet. 41:647-651(2004)
Cited for: VARIANTS GLC3A ASN-81; LYS-229; ARG-232; 269-SER--PHE-271 DEL; LYS-387; HIS-390; TYR-423 AND GLY-443; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453; Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.
Reddy A.B.M.; Kaur K.; Mandal A.K.; Panicker S.G.; Thomas R.; Hasnain S.E.; Balasubramanian D.; Chakrabarti S.;
Mol. Vis. 10:696-702(2004)
Cited for: VARIANTS GLC3A PRO-77; PRO-115; ARG-132; PRO-144; LEU-193; LYS-229; ARG-239; HIS-368; HIS-390; CYS-390; LEU-437 AND ASP-466; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453; Primary role of CYP1B1 in Indian juvenile-onset POAG patients.
Acharya M.; Mookherjee S.; Bhattacharjee A.; Bandyopadhyay A.K.; Daulat Thakur S.K.; Bhaduri G.; Sen A.; Ray K.;
Mol. Vis. 12:399-404(2006)
Cited for: VARIANTS GLC3A CYS-57; LYS-229; HIS-368; LEU-515; THR-523 AND GLY-530; VARIANTS GLY-48; SER-119; VAL-432; SER-453 AND ALA-518; Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.
Chavarria-Soley G.; Michels-Rautenstrauss K.; Pasutto F.; Flikier D.; Flikier P.; Cirak S.; Bejjani B.; Winters D.L.; Lewis R.A.; Mardin C.; Reis A.; Rautenstrauss B.;
Mol. Vis. 12:523-531(2006)
Cited for: VARIANTS GLC3A GLU-61; ASN-81; LYS-229; LEU-343 DEL; HIS-368; LYS-387 AND TRP-469; Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
Lopez-Garrido M.-P.; Sanchez-Sanchez F.; Lopez-Martinez F.; Aroca-Aguilar J.-D.; Blanco-Marchite C.; Coca-Prados M.; Escribano J.;
Mol. Vis. 12:748-755(2006)
Cited for: VARIANTS GLC3A TRP-28; GLU-61; ASN-81; TRP-145; LYS-229; PHE-409 AND GLY-443; VARIANTS LEU-52; HIS-144; PRO-189 AND SER-330; Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
Chavarria-Soley G.; Sticht H.; Aklillu E.; Ingelman-Sundberg M.; Pasutto F.; Reis A.; Rautenstrauss B.;
Hum. Mutat. 29:1147-1153(2008)
Cited for: CHARACTERIZATION OF VARIANTS GLC3A GLU-61; ASN-81; SER-203; LYS-229 AND LEU-343 DEL;
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.