mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 8.12255490164704e-13 (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 | ENST00000522109 | |||||||||||||||||||||
Genbank transcript ID | N/A | |||||||||||||||||||||
UniProt peptide | N/A | |||||||||||||||||||||
alteration type | single base exchange | |||||||||||||||||||||
alteration region | 3'UTR | |||||||||||||||||||||
DNA changes | cDNA.917G>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 | alteration within used splice site, likely to disturb normal splicing splice site change occurs after stopcodon (at aa 295) splice site change occurs after stopcodon (at aa 296) splice site change occurs after stopcodon (at aa 298)
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distance from splice site | 5 | |||||||||||||||||||||
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 | 25 / 25 | |||||||||||||||||||||
chromosome | 8 | |||||||||||||||||||||
strand | 1 | |||||||||||||||||||||
last intron/exon boundary | 349 | |||||||||||||||||||||
theoretical NMD boundary in CDS | 274 | |||||||||||||||||||||
length of CDS | 453 | |||||||||||||||||||||
coding sequence (CDS) position | N/A | |||||||||||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | 917 | |||||||||||||||||||||
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 | CTTCCTGGGCATGGCCGTGAGCACC | |||||||||||||||||||||
altered cDNA sequence snippet | CTTCCTGGGCATGGCCGTGAACACC | |||||||||||||||||||||
wildtype AA sequence | MDVGSKEVLM ESPPDYSAAP RGRFGIPCCP VHLKRLLIVV VVVVLIVVVI VGALLMGLHM SQKHTEMVLE MSIGAPEAQQ RLALSEHLVT TATFSIGSTG LVVYDYQQLL IAYKPAPGTC CYIMKIAPES IPSLEALTRK VHNFQVCVCG * | |||||||||||||||||||||
mutated AA sequence | N/A | |||||||||||||||||||||
speed | 0.94 s | |||||||||||||||||||||