UniProtKB/Swiss-Prot Q16678: Variant p.Gly61Glu

Cytochrome P450 1B1
Gene: CYP1B1
Feedback?

Variant information Variant position:

61 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 Glycine (G) to Glutamate (E) at position 61 (G61E, p.Gly61Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

In GLC3A; allele CYP1B1*12; reduces enzymatic activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28936700 [ dbSNP | Ensembl ]

Sequence information Variant position:

61 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

543 The length of the canonical sequence.
Location on the sequence:

RQRRRQLRSAPPGPFAWPLI G NAAAVGQAAHLSFARLARRY 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                         RQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARRY

Mouse                         RQWQRKPWSSPPGPFPWPLIGNAAAVGQASHLYFARLARRY

Rat                           RQWRRKPWSSPPGPFPWPLIGNAASVGRASHLYFARLARRY

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	1 – 543	Cytochrome P450 1B1

Literature citations
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
Bejjani B.A.; Lewis R.A.; Tomey K.F.; Anderson K.L.; Dueker D.K.; Jabak M.; Astle W.F.; Otterud B.; Leppert M.; Lupski J.R.;
Am. J. Hum. Genet. 62:325-333(1998)
Cited for: VARIANTS GLC3A GLU-61; ASN-374 AND TRP-469; Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.
Stoilov I.; Akarsu A.N.; Alozie I.; Child A.; Barsoum-Homsy M.; Turacli M.E.; Or M.; Lewis R.A.; Ozdemir N.; Brice G.; Aktan S.G.; Chevrette L.; Coca-Prados M.; Sarfarazi M.;
Am. J. Hum. Genet. 62:573-584(1998)
Cited for: VARIANT GLC3A TRP-365; VARIANTS CYS-57; GLU-61; TRP-365; LEU-379; LYS-387; HIS-390; VAL-432; LEU-437 AND TRP-469; Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Bejjani B.A.; Stockton D.W.; Lewis R.A.; Tomey K.F.; Dueker D.K.; Jabak M.; Astle W.F.; Lupski J.R.;
Hum. Mol. Genet. 9:367-374(2000)
Cited for: VARIANTS GLC3A GLU-61; PRO-77; 269-SER--PHE-271 DEL; HIS-368; ASN-374; SER-390 AND TRP-469; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453; 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; Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.
Alfadhli S.; Behbehani A.; Elshafey A.; Abdelmoaty S.; Al-Awadi S.;
Am. J. Ophthalmol. 141:512-516(2006)
Cited for: VARIANTS GLC3A GLU-61; HIS-368 AND THR-388; VARIANT GLY-422; 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.