Genomic Feature
db1092
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 3: 45776663 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Asp>Asn at position 123 (1)
- Flanking Sequence
-
ACTCAAACAAATCAGCAGACTAAACAATATGCTGTGAGTAAAAGTGTGTAAGAATGATGAACAACATGCAGGCCACAACACCAATTTACTCAATTACAAACCTTTATCTCTCCATTTATGGTAAACAAAAAAACTCAATCTTTGTCATTTTTAAATTAAGCTGTACAACTAAAACCAATGCCTAAATAATAACCCAACAAACAAGCATTGATTTGAGGTAGAGTAAATTTTATTTACAACCCAATGATCGATGGAAAAAGAAAAGAAAAAGGAAGAGATAAATACTAAGCATGCAACTAAAGCTGCCTTACAATGAGCACTACAAATGTAAATCTAGACACACTCACTTTAAAAACCTGAGTCTGTAAGGAATGCTTTACAAAATGACTCCAATGTACAAATCCATTGCTTTTACTTATGAGTGTTTCTCTTTAAAAGTTGAAATAAAAAAAGTAAAAATTAAGCCCTCTCTCCTCTGATTCGCCTTGCAAGCTGGATAT
C/T CTTGGGCATGATTGTTACTCTCTTGGCATGAATGGCGCACAAGTTGGTGTCCTCAAATAGACCGACAAGGTAGGCCTCACTTGCTTCCTGTTGAAATAAAATAAATAAGACATTAATCGTATTTAACCTCCTATATACATTCCTATAAAGTTATATTTATATTCATTACAATATAATCTCACCTGAAGAGCGCCAATAGCAGCACTCTGGAACCTCAGGTCAGTTTTGAAATCCTGTGCGATTTCTCTGACCAGACGCTGAAACGGCAACTTGCGGATGAGCAACTCTGTTGACTTCTGATAACGACGAATTTCTCTCAGAGCAACAGTTCCGGGCCTGAAATGTAAAAATTTAAACGTGTAAAACAGAAGATAGACATCTTTGTGTCTGTTAATGTCACTCAGCGCGTCTCATTCGCTCACCTGTATCTGTGAGGCTTCTTCACTCCTCCAGTAGAGGGCGCGCTTTTCCTGGCGGCTTTAGTTGCCAGCTGTTTTCTT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| h3f3adb1092/db1092 | Homozygous | ♀+/- ♂+/- | 3 figures  from 2 publications | 3 figures from 2 publications | |
| h3f3adb1092/+ | Heterozygous | ♀+/- ♂+/- | Fig. 9 from Cox et al., 2012 | 2 figures from Cox et al., 2012 | |
| h3f3adb1092 | Unknown | Unknown | |||
| h3f3adb1092/db1092; y1Tg | Complex | Fig. 1 from Cox et al., 2012 |
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Supplemental Information
- Genotyping protocol
- None
- Bryant, L., Li, D., Cox, S.G., Marchione, D., Joiner, E.F., Wilson, K., Janssen, K., Lee, P., March, M.E., Nair, D., Sherr, E., Fregeau, B., Wierenga, K.J., Wadley, A., Mancini, G.M.S., Powell-Hamilton, N., van de Kamp, J., Grebe, T., Dean, J., Ross, A., Crawford, H.P., Powis, Z., Cho, M.T., Willing, M.C., Manwaring, L., Schot, R., Nava, C., Afenjar, A., Lessel, D., Wagner, M., Klopstock, T., Winkelmann, J., Catarino, C.B., Retterer, K., Schuette, J.L., Innis, J.W., Pizzino, A., Lüttgen, S., Denecke, J., Strom, T.M., Monaghan, K.G., DDD Study, Yuan, Z.F., Dubbs, H., Bend, R., Lee, J.A., Lyons, M.J., Hoefele, J., Günthner, R., Reutter, H., Keren, B., Radtke, K., Sherbini, O., Mrokse, C., Helbig, K.L., Odent, S., Cogne, B., Mercier, S., Bezieau, S., Besnard, T., Kury, S., Redon, R., Reinson, K., Wojcik, M.H., Õunap, K., Ilves, P., Innes, A.M., Kernohan, K.D., Care4Rare Canada Consortium, Costain, G., Meyn, M.S., Chitayat, D., Zackai, E., Lehman, A., Kitson, H., CAUSES Study, Martin, M.G., Martinez-Agosto, J.A., Undiagnosed Diseases Network, Nelson, S.F., Palmer, C.G.S., Papp, J.C., Parker, N.H., Sinsheimer, J.S., Vilain, E., Wan, J., Yoon, A.J., Zheng, A., Brimble, E., Ferrero, G.B., Radio, F.C., Carli, D., Barresi, S., Brusco, A., Tartaglia, M., Thomas, J.M., Umana, L., Weiss, M.M., Gotway, G., Stuurman, K.E., Thompson, M.L., McWalter, K., Stumpel, C.T.R.M., Stevens, S.J.C., Stegmann, A.P.A., Tveten, K., Vøllo, A., Prescott, T., Fagerberg, C., Laulund, L.W., Larsen, M.J., Byler, M., Lebel, R.R., Hurst, A.C., Dean, J., Schrier Vergano, S.A., Norman, J., Mercimek-Andrews, S., Neira, J., Van Allen, M.I., Longo, N., Sellars, E., Louie, R.J., Cathey, S.S., Brokamp, E., Heron, D., Snyder, M., Vanderver, A., Simon, C., de la Cruz, X., Padilla, N., Crump, J.G., Chung, W., Garcia, B., Hakonarson, H.H., Bhoj, E.J. (2020) Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Science advances. 6(49):
- Cox, S.G., Kim, H., Garnett, A.T., Medeiros, D.M., An, W., and Crump, J.G. (2012) An essential role of variant histone h3.3 for ectomesenchyme potential of the cranial neural crest. PLoS Genetics. 8(9):e1002938
- Crump, J.G., Swartz, M.E., Eberhart, J.K., and Kimmel, C.B. (2006) Moz-dependent Hox expression controls segment-specific fate maps of skeletal precursors in the face. Development (Cambridge, England). 133(14):2661-9
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