mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 5.1696817582027e-10 (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) | chr8:22021517G>AN/A show variant in all transcripts IGV | ||||||||||||||||
HGNC symbol | SFTPC | ||||||||||||||||
Ensembl transcript ID | ENST00000437090 | ||||||||||||||||
Genbank transcript ID | N/A | ||||||||||||||||
UniProt peptide | N/A | ||||||||||||||||
alteration type | single base exchange | ||||||||||||||||
alteration region | 3'UTR | ||||||||||||||||
DNA changes | cDNA.701G>A g.7092G>A | ||||||||||||||||
AA changes | N/A | ||||||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | ||||||||||||||||
frameshift | N/A | ||||||||||||||||
known variant | Reference ID: rs1124
known disease mutation at this position, please check HGMD for details (HGMD ID CM040800) | ||||||||||||||||
regulatory features | Promoter Associated, Regulatory Feature, Promoter like regulatory feature H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation DNase1, Open Chromatin, DNase1 Hypersensitive Site | ||||||||||||||||
phyloP / phastCons |
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splice sites | splice site change occurs after stopcodon (at aa 220) splice site change occurs after stopcodon (at aa 221)
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distance from splice site | 73 | ||||||||||||||||
Kozak consensus sequence altered? | N/A | ||||||||||||||||
conservation protein level for non-synonymous changes | N/A | ||||||||||||||||
protein features | N/A | ||||||||||||||||
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 | signal is predicted to be ok | ||||||||||||||||
conservation nucleotide level for all changes - no scoring up to now | N/A | ||||||||||||||||
position of start ATG in wt / mu cDNA | 32 / 32 | ||||||||||||||||
chromosome | 8 | ||||||||||||||||
strand | 1 | ||||||||||||||||
last intron/exon boundary | 467 | ||||||||||||||||
theoretical NMD boundary in CDS | 385 | ||||||||||||||||
length of CDS | 486 | ||||||||||||||||
coding sequence (CDS) position | N/A | ||||||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | 701 | ||||||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 7092 | ||||||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 22021517 | ||||||||||||||||
original gDNA sequence snippet | CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC | ||||||||||||||||
altered gDNA sequence snippet | CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC | ||||||||||||||||
original cDNA sequence snippet | CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC | ||||||||||||||||
altered cDNA sequence snippet | CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC | ||||||||||||||||
wildtype AA sequence | MDVGSKEVLM ESPPDYSAAP RGRFGIPCCP VHLKRLLIVV VVVVLIVVVI VGALLMGLHM SQKHTEMVLE MSIGAPEAQQ RLALSEHLVT TATFSIGSTG LVVYDYQQLL IAYKPAPGTC CYIMKIAPES IPSLEALTRK VHNFQHSPSL LMRKLRLREI A* | ||||||||||||||||
mutated AA sequence | N/A | ||||||||||||||||
speed | 0.94 s | ||||||||||||||||