Sequence variant tables - Search sequence variants
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Total results: 16.
Exon
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DNA: Allele 1
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RE-Site
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RNA
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Protein
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Frequency
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Disease
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Reference
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DNA/RNA
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Technique
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FOXL2db-ID
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Remarks
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DNA allele 1 (Crisponi et al. 2001)
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Phenotype
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Clinical data
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Ethnic origin
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Geographic origin
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Domain
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RNA Sequence Change
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RNA Frame Change
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Protein Sequence Outcome
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| 01 |
c.501C>T
Show all records
(reported: 4 times) |
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c.501C>T |
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FOXL2_00088 |
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g.738C>T |
Unknown |
12/140 (8.6 %) POF, 4/46 (8.7 %) XX male, 2/110 (1.8 %) control chrom |
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Mix |
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Neutral |
Unchanged |
Unchanged |
| 01 |
c.522C>T |
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c.522C>T |
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normal |
De Baere et al. 2002 |
Genomic DNA |
SEQ |
FOXL2_00091 |
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g.759C>T |
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1/140 (0.7 %) POF, 1/46 (2.2 %) XX male, 0/110 control chrom |
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Mix |
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Unchanged |
Unchanged |
Unchanged |
| 01 |
c.536C>G
Show all records
(reported: 2 times) |
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p.Ala179Gly |
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FOXL2_00092 |
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g.773C>G |
Isolated POF |
5/140 (3.6 %) POF chrom, 9/200 (4.5 %) control chrom |
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SI - NZ |
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Missense |
Unchanged |
A.A. Substitution |
| 01 |
c.560G>A |
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p.Gly187Asp |
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normal |
De Baere et al. 2002 |
Genomic DNA |
SEQ |
FOXL2_00094 |
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g.797G>A |
Unknown |
1/46 (2.2 %) XX male chrom, also present in unaffected family members |
Unknown |
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Missense |
Unchanged |
A.A. Substitution |
| 01 |
c.682G>A |
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p.Ala228Thr |
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normal |
Crisponi et al. (2002) |
Genomic DNA |
SEQ |
FOXL2_00125 |
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g.919G>A |
Isolated POF |
1/71 (0.7 %) POF, 0/200 control chrom |
Unknown |
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Polyala |
Missense |
Unchanged |
A.A. Substitution |
| 01 |
c.853C>T |
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p.Pro285Ser |
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normal |
De Baere et al. 2002 |
Genomic DNA |
SEQ |
FOXL2_00097 |
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g.1090C>T |
Unknown |
1/46 (2.2 %) XX male chrom, 0/110 control chrom |
|
unknown |
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Missense |
Unchanged |
A.A. Substitution |
| 01 |
c.858T>C |
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c.858T>C |
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normal |
Crisponi et al. (2002) |
Genomic DNA |
SEQ |
FOXL2_00126 |
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g.1095T>C |
Isolated POF |
3/71 (4.2 %) POF chrom |
Unknown |
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Unchanged |
Unchanged |
Unchanged |
| 01 |
c.858T>G
Show all records
(reported: 2 times) |
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c.858T>G |
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FOXL2_00098 |
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g.1095T>G |
Unknown |
3/140 (2.1 %) POF, 3/46 (6.5 %) XX male, 0/110 control chrom |
|
mix |
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Missense |
Unchanged |
Unchanged |
| 01 |
c.903G>T |
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c.903G>T |
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normal |
De Baere et al. 2002 |
Genomic DNA |
SEQ |
FOXL2_00100 |
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g.1140G>T |
Unknown |
1/140 (0.7 %) POF, 0/110 control chrom |
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|
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Missense |
Unchanged |
Unchanged |
| 01 |
c.1071T>C |
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c.1071T>C |
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normal |
Crisponi et al. (2002) |
Genomic DNA |
SEQ |
FOXL2_00127 |
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g.1308T>C |
Isolated POF |
1/71 (0.7 %) POF |
Unknown |
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|
Unchanged |
Unchanged |
Unchanged |
| 01 |
c.1107G>T |
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c.1107G>T |
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normal |
De Baere et al. 2002 |
Genomic DNA |
SEQ |
FOXL2_00101 |
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g.1344G>T |
Unknown |
1/46 (2.2 %) XX male, 0/110 control chrom |
Unknown |
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|
Missense |
Unchanged |
Unchanged |
| 5' UTR |
c.-231G>A |
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p.unchanged |
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normal |
De Baere et al. (unpublished) |
Genomic DNA |
SEQ |
FOXL2_00122 |
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g.6G>A |
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34/208 (16.3%) POF chrom; 3/46 (6.5%) XX males chrom |
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| Putative Core Promoter |
c.-713T>C |
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p.unchanged |
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normal |
De Baere et al. Unpublished |
Genomic DNA |
SEQ |
FOXL2_00190 |
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g.-476T>C |
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0/208 POF chrom, 2/46 (4.3%) XX males
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| Putative Core Promoter |
c.-609C>T |
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p.unchanged |
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normal |
Crisponi et al. (2002) |
Genomic DNA |
SEQ |
FOXL2_00191 |
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g.-609C>T |
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1/71 (01.4%) POF, 2/96 (2.1%) control chrom
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| Putative Core Promoter |
c.-554G>C |
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p.unchanged |
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normal |
De Baere et al. 2003 |
Genomic DNA |
SEQ |
FOXL2_00102 |
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g.-317G>C |
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Variant in typical BPES patient, unaffected father and sister |
Caucasoid/Europoid |
RU |
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| Putative Core Promoter |
c.-469G>A |
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p.unchanged |
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normal |
Crisponi et al. (2002) |
Genomic DNA |
SEQ |
FOXL2_00192 |
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g.-232G>A |
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11/71 (15.5%) POF, 79/190 (41.6%) control chrom
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Total results: 16. Showing results 1 to 16.
Legend: [ full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committe for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Genomic Reference Sequence.
Exon: exon numbering. DNA allele 1: variation at DNA-level (allele 1). If present, "Full Details" will show you the the full-length entry. "Show all records" will show you similar entries. RE-site: variation creates (+) or destroys (-) restriction enzyme recognition sequence. RNA: variation at RNA-level (allele 1), (?) unknown but probably identical to DNA. Frequency: frequency of polymorphism. Protein: variation at protein level. Disease: disease phenotype, as reported in paper/by submitter, unless modified by the curator (if so, see Remarks column). Reference: publication describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. DNA/RNA: variation detected in RNA or DNA. Technique: technique used to detect the variation. For a full list of techniques, see the full legend. FOXL2db-ID: FOXL2 database IDentifier; if present, links to OMIM ID's are provided. Remarks: Listings in bold italics indicate compound heterozygous patients with both mutated alleles known. Consequently, the case is mentioned twice in this table.
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