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Sequence variations in FANCA gene and genotype frequencies in familial breast cancer cases and controls.
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Sequence variations in FANCA gene and genotype frequencies in familial breast cancer cases and controls.

Journal: Molecular Oncology

Article Title: Polymorphic variations in the FANCA gene in high‐risk non‐BRCA1/2 breast cancer individuals from the French Canadian population

doi: 10.1016/j.molonc.2012.08.002

Figure Lengend Snippet: Sequence variations in FANCA gene and genotype frequencies in familial breast cancer cases and controls.

Article Snippet: Therefore, the Thr561Met and Cys625Ser amino acid changes are predicted to be damaging for protein function by all three programs and most of the changes leading to a potential deleterious effect identified by at least one of the programs used, are located in important domains or binding sites such as the BRCA1 binding site region (aa 1–589) or the Leucine zipper domain (aa 1069–1090). table ft1 table-wrap mode="anchored" t5 caption a7 SNPa SNP IDb Amino acid change Macaca mulatta Gallus gallus Mus musculus Canis lupus familiaris Loxodonta africana Monodelphis domestica Xenopus ropicalis 4 c.17 T/A Val6Asp N/A N/A Ala Thr Ala Ser N/A 5 c.343 G/A Gly115Arg N/A Lys Lys Gln Arg Gln N/A 8 c.695 G/A Arg232Lys N/A Gly Glu Gln Arg Gly N/A 10 c.796A/G Thr266Ala N/A Cys Ala Ala N/A Cys N/A 24 c.1235C/T Ala412Val N/A Ser Ala Thr Ala Ala N/A 25 c.1501 G/A Gly501Ser N/A Thr Ser Ser Glu Val Pro 28 c.1679C/T Thr561Met N/A Thr Thr Thr Thr Thr Thr 34 c.1874 G/C Cys625Ser N/A Cys Cys Cys Cys Cys N/A 35 c.1927C/G Pro643Ala N/A N/A Ala Ala Pro Thr N/A 37 c.2151 G/T Met717Ile N/A N/A Ala Gln Glu Lys N/A 44 c.2426 G/A Gly809Asp N/A N/A Ser Val Ala N/A N/A 45 c.2574C/G Ser858Arg N/A N/A Asn Ser Gly Asn N/A 46 c.2859C/G Asp953Glu N/A N/A Asp Asp Asp Tyr N/A 54 c.3069 G/T Glu1023Asp Glu Glu Glu Glu Glu Glu N/A 57 c.3263C/T Ser1088Phe Ser N/A Ser Ser Thr Ser N/A 64 c.3427C/G Leu1143Val Leu Leu Leu Ser Leu Leu Val 81 c.3982A/G Thr1328Ala Thr N/A Thr Ile Ile Ile Leu 83 c.4055C/A Ala1352Asp Ala N/A Ala Ala Ala Ala Asp Open in a separate window N/A: no corresponding residue found in this species. a According to . b According to the nomenclature of the Human Genome Variation Society.

Techniques: Sequencing

Non‐synonymous sequence variants detected in human FANCA protein and residues found in orthologues.

Journal: Molecular Oncology

Article Title: Polymorphic variations in the FANCA gene in high‐risk non‐BRCA1/2 breast cancer individuals from the French Canadian population

doi: 10.1016/j.molonc.2012.08.002

Figure Lengend Snippet: Non‐synonymous sequence variants detected in human FANCA protein and residues found in orthologues.

Article Snippet: Therefore, the Thr561Met and Cys625Ser amino acid changes are predicted to be damaging for protein function by all three programs and most of the changes leading to a potential deleterious effect identified by at least one of the programs used, are located in important domains or binding sites such as the BRCA1 binding site region (aa 1–589) or the Leucine zipper domain (aa 1069–1090). table ft1 table-wrap mode="anchored" t5 caption a7 SNPa SNP IDb Amino acid change Macaca mulatta Gallus gallus Mus musculus Canis lupus familiaris Loxodonta africana Monodelphis domestica Xenopus ropicalis 4 c.17 T/A Val6Asp N/A N/A Ala Thr Ala Ser N/A 5 c.343 G/A Gly115Arg N/A Lys Lys Gln Arg Gln N/A 8 c.695 G/A Arg232Lys N/A Gly Glu Gln Arg Gly N/A 10 c.796A/G Thr266Ala N/A Cys Ala Ala N/A Cys N/A 24 c.1235C/T Ala412Val N/A Ser Ala Thr Ala Ala N/A 25 c.1501 G/A Gly501Ser N/A Thr Ser Ser Glu Val Pro 28 c.1679C/T Thr561Met N/A Thr Thr Thr Thr Thr Thr 34 c.1874 G/C Cys625Ser N/A Cys Cys Cys Cys Cys N/A 35 c.1927C/G Pro643Ala N/A N/A Ala Ala Pro Thr N/A 37 c.2151 G/T Met717Ile N/A N/A Ala Gln Glu Lys N/A 44 c.2426 G/A Gly809Asp N/A N/A Ser Val Ala N/A N/A 45 c.2574C/G Ser858Arg N/A N/A Asn Ser Gly Asn N/A 46 c.2859C/G Asp953Glu N/A N/A Asp Asp Asp Tyr N/A 54 c.3069 G/T Glu1023Asp Glu Glu Glu Glu Glu Glu N/A 57 c.3263C/T Ser1088Phe Ser N/A Ser Ser Thr Ser N/A 64 c.3427C/G Leu1143Val Leu Leu Leu Ser Leu Leu Val 81 c.3982A/G Thr1328Ala Thr N/A Thr Ile Ile Ile Leu 83 c.4055C/A Ala1352Asp Ala N/A Ala Ala Ala Ala Asp Open in a separate window N/A: no corresponding residue found in this species. a According to . b According to the nomenclature of the Human Genome Variation Society.

Techniques: Sequencing

Non‐synonymous amino acid changes identified in FANCA protein and prediction of the substitution on protein function using SIFT, PolyPhen and Align GVGD softwares.

Journal: Molecular Oncology

Article Title: Polymorphic variations in the FANCA gene in high‐risk non‐BRCA1/2 breast cancer individuals from the French Canadian population

doi: 10.1016/j.molonc.2012.08.002

Figure Lengend Snippet: Non‐synonymous amino acid changes identified in FANCA protein and prediction of the substitution on protein function using SIFT, PolyPhen and Align GVGD softwares.

Article Snippet: Therefore, the Thr561Met and Cys625Ser amino acid changes are predicted to be damaging for protein function by all three programs and most of the changes leading to a potential deleterious effect identified by at least one of the programs used, are located in important domains or binding sites such as the BRCA1 binding site region (aa 1–589) or the Leucine zipper domain (aa 1069–1090). table ft1 table-wrap mode="anchored" t5 caption a7 SNPa SNP IDb Amino acid change Macaca mulatta Gallus gallus Mus musculus Canis lupus familiaris Loxodonta africana Monodelphis domestica Xenopus ropicalis 4 c.17 T/A Val6Asp N/A N/A Ala Thr Ala Ser N/A 5 c.343 G/A Gly115Arg N/A Lys Lys Gln Arg Gln N/A 8 c.695 G/A Arg232Lys N/A Gly Glu Gln Arg Gly N/A 10 c.796A/G Thr266Ala N/A Cys Ala Ala N/A Cys N/A 24 c.1235C/T Ala412Val N/A Ser Ala Thr Ala Ala N/A 25 c.1501 G/A Gly501Ser N/A Thr Ser Ser Glu Val Pro 28 c.1679C/T Thr561Met N/A Thr Thr Thr Thr Thr Thr 34 c.1874 G/C Cys625Ser N/A Cys Cys Cys Cys Cys N/A 35 c.1927C/G Pro643Ala N/A N/A Ala Ala Pro Thr N/A 37 c.2151 G/T Met717Ile N/A N/A Ala Gln Glu Lys N/A 44 c.2426 G/A Gly809Asp N/A N/A Ser Val Ala N/A N/A 45 c.2574C/G Ser858Arg N/A N/A Asn Ser Gly Asn N/A 46 c.2859C/G Asp953Glu N/A N/A Asp Asp Asp Tyr N/A 54 c.3069 G/T Glu1023Asp Glu Glu Glu Glu Glu Glu N/A 57 c.3263C/T Ser1088Phe Ser N/A Ser Ser Thr Ser N/A 64 c.3427C/G Leu1143Val Leu Leu Leu Ser Leu Leu Val 81 c.3982A/G Thr1328Ala Thr N/A Thr Ile Ile Ile Leu 83 c.4055C/A Ala1352Asp Ala N/A Ala Ala Ala Ala Asp Open in a separate window N/A: no corresponding residue found in this species. a According to . b According to the nomenclature of the Human Genome Variation Society.

Techniques: Binding Assay