Genomic Feature
sh397
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 23: 37476548 (GRCz11) (1) Details
- Nucleotide change
- T/G
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>G at position 1405 in RefSeq:NM_001008628 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Tyr>Stop at position 431 (1)
- Flanking Sequence
-
GTTAACTAGGCAAGTTAGGTTAATTAGGCTAGCTATAATTAGGATACCTGGATGCCTACCTAGGAAGGTGTTCCAGGGATGTCTCACAGGGAGGGGTCTCTGGAAAGACCCAGGAAACACTGGAGGGACTATGTCTCTCGTCTGACCTAAGAGCACCTTGGGATCCCCCCCGGACGAGCTGGAGGAAAAGGGAAGTCTGGGGTTCTCTCCTGAGACTACCTCCCCACAACCCGGCCCTTGAAAAGTGGATAAAAATGAATAATATCGACCTTAGCAGTTAACAACCTTAGCATTTAGCAACCTTATATATATCCATAAGAAAAATATAATAGTCTTGCTCTGATGAAACATCCCTATGCAAATTTGAAAATGTAATTTATTCAGAGATGAAGTGCATTGATGACTGATGATCTCCTATAGGTGTCCATGGCAGTGCCTGGTCCAGGGGTGGTGATTGATTACAGTAAAGCAGATGTGTGGGCTGTGGGAGCAATTGCTTA
T/G GAGCTCTTCGGTCAGCCAAACCCCTTCTACACACTGGAGAGTCGGAGTTACCAGGAAAAACAACTGCCTGCACTTCCTGCTGCTGCGCCTGATGACGTTCAGCTGGTGGTGAAGCTGCTGCTGCGCGAAAACCCTCATAAGGTACAGCATTTACCTGCAAACACCACCATGTTCATTTAGCCAATGTGTTTATAGCAGCTGTTTTACTTTGTGATATTAAGGTGATAATATTTTGCTGGGAAAATAGCAAATTGGCCTAGAAATAGTTTTATTTTCGTTTTATTTAATTGGGGATTACTTGTAGTTCTTTAACTATTTTTATTCAAAACATAGGTGTTATATAAATAGGCTCTCGACAATATTTGCGGTATAAATCTATACATTTTTCATTTATGTATTTTTATTAATTTATTTTAAACATAATTTTTTATTAAATTGTTTATCCTTTAATTTTTTATATAGTTTATTTAATTATTTATATAATCATTTTATTATTTACA - Additional Sequence
- None
Fish
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Supplemental Information
- Genotyping protocol
- None
- Brown, S.J., Boussaad, I., Jarazo, J., Fitzgerald, J.C., Antony, P., Keatinge, M., Blechman, J., Schwamborn, J.C., Krüger, R., Placzek, M., Bandmann, O. (2021) PINK1 deficiency impairs adult neurogenesis of dopaminergic neurons. Scientific Reports. 11:6617
- Soman, S.K., Bazała, M., Keatinge, M., Bandmann, O., Kuznicki, J. (2019) Restriction of mitochondrial calcium overload by mcu inactivation renders neuroprotective effect in Zebrafish models of Parkinson's disease. Biology Open. 8(10):
- Watson, L., Keatinge, M., Gegg, M., Bai, Q., Sandulescu, C., Vardi, A., Futerman, A.H., Schapira, A.H.V., Burton, E.A., Bandmann, O. (2019) Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease. Neurobiology of disease. 127:563-569
- Soman, S., Keatinge, M., Moein, M., DaCosta, M., Mortiboys, H., Skupin, A., Sugunan, S., Bazala, M., Kuznicki, J., Bandmann, O. (2017) Inhibition of the mitochondrial calcium uniporter rescues dopaminergic neurons in pink1-/- zebrafish.. The European journal of neuroscience. 45(4):528-535
- Flinn, L.J., Keatinge, M., Bretaud, S., Mortiboys, H., Matsui, H., De Felice, E., Woodroof, H.I., Brown, L., McTighe, A., Soellner, R., Allen, C.E., Heath, P.R., Milo, M., Muqit, M.M., Reichert, A.S., Köster, R.W., Ingham, P.W., and Bandmann, O. (2013) TigarB causes mitochondrial dysfunction and neuronal loss in PINK1 deficiency. Annals of neurology. 74(6):837-47
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