mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 0.999999999645458 (explain) | ||||||||||||
Summary |
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hyperlink | ||||||||||||
analysed issue | analysis result | |||||||||||||
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name of alteration | no title | |||||||||||||
alteration (phys. location) | chr17:34588288A>TN/A show variant in all transcripts IGV | |||||||||||||
HGNC symbol | TBC1D3H | |||||||||||||
Ensembl transcript ID | ENST00000400684 | |||||||||||||
Genbank transcript ID | N/A | |||||||||||||
UniProt peptide | P0C7X1 | |||||||||||||
alteration type | single base exchange | |||||||||||||
alteration region | intron | |||||||||||||
DNA changes | g.219774T>A | |||||||||||||
AA changes | N/A | |||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
frameshift | N/A | |||||||||||||
known variant | Reference ID: rs370874761
Allele 'T' was neither found in ExAC nor 1000G. | |||||||||||||
regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation | |||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 6320 | |||||||||||||
Kozak consensus sequence altered? | N/A | |||||||||||||
conservation protein level for non-synonymous changes | N/A | |||||||||||||
protein features |
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length of protein | N/A | |||||||||||||
AA sequence altered | N/A | |||||||||||||
position of stopcodon in wt / mu CDS | N/A | |||||||||||||
position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
poly(A) signal | N/A | |||||||||||||
conservation nucleotide level for all changes - no scoring up to now | N/A | |||||||||||||
position of start ATG in wt / mu cDNA | 579 / 579 | |||||||||||||
chromosome | 17 | |||||||||||||
strand | -1 | |||||||||||||
last intron/exon boundary | 1420 | |||||||||||||
theoretical NMD boundary in CDS | 791 | |||||||||||||
length of CDS | 1410 | |||||||||||||
coding sequence (CDS) position | N/A | |||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | N/A | |||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 219774 | |||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 34588288 | |||||||||||||
original gDNA sequence snippet | CGAAAGAGCAAGTGGGTGGATATGCTGGGAGACTGGGAGAA | |||||||||||||
altered gDNA sequence snippet | CGAAAGAGCAAGTGGGTGGAAATGCTGGGAGACTGGGAGAA | |||||||||||||
original cDNA sequence snippet | N/A | |||||||||||||
altered cDNA sequence snippet | N/A | |||||||||||||
wildtype AA sequence | MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE HVVATSQPKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPAWFPRP IWSASPPRAP RSSTPCPGGA VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL ESSQFPPGF* | |||||||||||||
mutated AA sequence | N/A | |||||||||||||
speed | 0.90 s | |||||||||||||