Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM970307)
  • known disease mutation: rs18345 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:4805227C>AN/A show variant in all transcripts   IGV
HGNC symbol C17orf107
Ensembl transcript ID ENST00000381365
Genbank transcript ID NM_001145536
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.2199C>A
g.2515C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121909514
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18345 (pathogenic for Myasthenic syndrome, congenital, 4a, slow-channel|Congenital myasthenic syndrome 4C) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970307)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970307)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970307)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1451
3.5411
(flanking)1.9441
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 657)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased2514wt: 0.38 / mu: 0.68wt: CCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTT
mu: CCTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTT		 ccac|CGGA
Donor marginally increased2515wt: 0.9914 / mu: 0.9979 (marginal change - not scored)wt: CCCACCGGAAAATAA
mu: CCCACAGGAAAATAA		 CACC|ggaa
Donor marginally increased2516wt: 0.9629 / mu: 0.9801 (marginal change - not scored)wt: CCACCGGAAAATAAG
mu: CCACAGGAAAATAAG		 ACCG|gaaa
distance from splice site 1001
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 228 / 228
chromosome 17
strand 1
last intron/exon boundary 504
theoretical NMD boundary in CDS 226
length of CDS 573
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 2199
gDNA position
(for ins/del: last normal base / first normal base)		 2515
chromosomal position
(for ins/del: last normal base / first normal base)		 4805227
original gDNA sequence snippet CTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTC
altered gDNA sequence snippet CTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTTC
original cDNA sequence snippet CTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTC
altered cDNA sequence snippet CTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTTC
wildtype AA sequence MKGTPSSLDT LMWIYHFHSS TEVALQPPLL SSLELSVAAA HEYLEQRFRE LKSLEPPEPK
MQGMLPAPKP TLGLVLREAT ASLVSFGTTL LEISALWLQQ EARRLDGSAG PAPDGRDPGA
ALSRVAQAAG QGVRQAGAAV GASARLLVQG AWLCLCGRGL QGSASFLRQS QQQLGLGIPG
EPVSSGHGVS *
mutated AA sequence N/A
speed 0.14 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project