mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999999924153233 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | |||||||||||||||
Summary |
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hyperlink | |||||||||||||||
analysed issue | analysis result | ||||||||||||||||
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name of alteration | no title | ||||||||||||||||
alteration (phys. location) | chr2:130900188A>GN/A show variant in all transcripts IGV | ||||||||||||||||
HGNC symbol | CCDC74B | ||||||||||||||||
Ensembl transcript ID | ENST00000409488 | ||||||||||||||||
Genbank transcript ID | N/A | ||||||||||||||||
UniProt peptide | Q96LY2 | ||||||||||||||||
alteration type | single base exchange | ||||||||||||||||
alteration region | intron | ||||||||||||||||
DNA changes | g.2520T>C | ||||||||||||||||
AA changes | N/A | ||||||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | ||||||||||||||||
frameshift | N/A | ||||||||||||||||
known variant | Reference ID: rs28743163
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regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation | ||||||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 432 | ||||||||||||||||
Kozak consensus sequence altered? | N/A | ||||||||||||||||
conservation protein level for non-synonymous changes | N/A | ||||||||||||||||
protein features | no protein features affected | ||||||||||||||||
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 | 76 / 76 | ||||||||||||||||
chromosome | 2 | ||||||||||||||||
strand | -1 | ||||||||||||||||
last intron/exon boundary | 776 | ||||||||||||||||
theoretical NMD boundary in CDS | 650 | ||||||||||||||||
length of CDS | 738 | ||||||||||||||||
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) | 2520 | ||||||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 130900188 | ||||||||||||||||
original gDNA sequence snippet | GAGCCAGCCTGGGAACATCGTAGCTGGGGCAGTGCCTAGGG | ||||||||||||||||
altered gDNA sequence snippet | GAGCCAGCCTGGGAACATCGCAGCTGGGGCAGTGCCTAGGG | ||||||||||||||||
original cDNA sequence snippet | N/A | ||||||||||||||||
altered cDNA sequence snippet | N/A | ||||||||||||||||
wildtype AA sequence | MSGAGVAAGT RPPSSPTPGS RRRRQRPSVG VQSLRPQSPQ LRQSDPQKRN LDLEKSLQFL QQQHSEMLAK LHEEIEHLKR ENKDLRYKLI MNQTSQKKDS LSTSSFQSVK SISNSANSQG KARPQPGSFN KQDSKADVPQ KADLEEEPLL HNSKLDKVPG VQGQASPPHL GSAKCSSASC GIPTSCRPKS CSTSSPSWKG ARGPRQSRRK LAFPGTKKPR ISPRSPPRAS PRNAHLWRSV PSCPH* | ||||||||||||||||
mutated AA sequence | N/A | ||||||||||||||||
speed | 0.38 s | ||||||||||||||||