Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999225365206638 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM091087)
  • known disease mutation: rs16221 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:31202729C>GN/A show variant in all transcripts   IGV
HGNC symbol FUS
Ensembl transcript ID ENST00000568685
Genbank transcript ID N/A
UniProt peptide P35637
alteration type single base exchange
alteration region CDS
DNA changes c.1554C>G
cDNA.1618C>G
g.11299C>G
AA changes H518Q Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 518
frameshift no
known variant Reference ID: rs121909667
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs16221 (pathogenic for Amyotrophic lateral sclerosis 6, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM091087)

known disease mutation at this position, please check HGMD for details (HGMD ID CM091087)
known disease mutation at this position, please check HGMD for details (HGMD ID CM091087)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4551
2.681
(flanking)3.4551
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased11291wt: 0.7809 / mu: 0.7836 (marginal change - not scored)wt: TTTTTTTTTTTTTTTGCAGGGGTGAGCACAGACAGGATCGC
mu: TTTTTTTTTTTTTTTGCAGGGGTGAGCAGAGACAGGATCGC		 aggg|GTGA
Donor increased11295wt: 0.53 / mu: 0.98wt: GGGTGAGCACAGACA
mu: GGGTGAGCAGAGACA		 GTGA|gcac
Donor gained112980.91mu: TGAGCAGAGACAGGA AGCA|gaga
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      518FGPGKMDSRGEHRQDRRERPY*
mutated  not conserved    518FGPGKMDSRGEQRQDRRERPY
Ptroglodytes  all identical  ENSPTRG00000008038  511FGPGKMDSRGEHRQDRRERPY
Mmulatta  all identical  ENSMMUG00000019637  513FGPGKMDSRGEHRQDRRERPY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000030795  509FGPGKMDSRGEHRQDRRERPY
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000037968  533FGPGKMDSRGDHRHDRRDRPY
Dmelanogaster  not conserved  FBgn0011571  370GGYSRFNDNNGGGRGGR
Celegans  no alignment  C27H5.3  n/a
Xtropicalis  all identical  ENSXETG00000001951  530FGPGKMDSRGDHRQDRRDRPY
protein features
start (aa)end (aa)featuredetails 
371526COMPBIASArg/Gly-rich.lost
514521HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1584 / 1584
position (AA) of stopcodon in wt / mu AA sequence 528 / 528
position of stopcodon in wt / mu cDNA 1648 / 1648
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 65 / 65
chromosome 16
strand 1
last intron/exon boundary 1609
theoretical NMD boundary in CDS 1494
length of CDS 1584
coding sequence (CDS) position 1554
cDNA position
(for ins/del: last normal base / first normal base)		 1618
gDNA position
(for ins/del: last normal base / first normal base)		 11299
chromosomal position
(for ins/del: last normal base / first normal base)		 31202729
original gDNA sequence snippet TTTTTTTGCAGGGGTGAGCACAGACAGGATCGCAGGGAGAG
altered gDNA sequence snippet TTTTTTTGCAGGGGTGAGCAGAGACAGGATCGCAGGGAGAG
original cDNA sequence snippet ATGGATTCCAGGGGTGAGCACAGACAGGATCGCAGGGAGAG
altered cDNA sequence snippet ATGGATTCCAGGGGTGAGCAGAGACAGGATCGCAGGGAGAG
wildtype AA sequence MASNDYTQQA TQSYGAYPTQ PGQGYSQQSS QPYGQQSYSG YSQSTDTSGY GQSSYSSYGQ
SQNTGYGTQS TPQGYGSTGG YGSSQSSQSS YGQQSSYPGY GQQPAPSSTS GSYGSSSQSS
SYGQPQSGSY SQQPSYGGQQ QSYGQQQSYN PPQGYGQQNQ YNSSSGGGGG GGGGGNYGQD
QSSMSSGGGS GGGYGNQDQS GGGGSGGYGQ QDRGGRGRGG SGGGGGGGGG GYNRSSGGYE
PRGRGGGRGG RGGMGGSDRG GFNKFGGPRD QGSRHDSAEQ DNSDNNTIFV QGLGENVTIE
SVADYFKQIG IIKTNKKTGQ PMINLYTDRE TGKLKGEATV SFDDPPSAKA AIDWFDGKEF
SGNPIKVSFA TRRADFNRGG GNGRGGRGRG GPMGRGGYGG GGSGGGGRGG FPSGGGGGGG
QQRAGDWKCP NPTCENMNFS WRNECNQCKA PKPDGPGGGP GGSHMGGNYG DDRRGGRGGY
DRGGYRGRGG DRGGFRGGRG GGDRGGFGPG KMDSRGEHRQ DRRERPY*
mutated AA sequence MASNDYTQQA TQSYGAYPTQ PGQGYSQQSS QPYGQQSYSG YSQSTDTSGY GQSSYSSYGQ
SQNTGYGTQS TPQGYGSTGG YGSSQSSQSS YGQQSSYPGY GQQPAPSSTS GSYGSSSQSS
SYGQPQSGSY SQQPSYGGQQ QSYGQQQSYN PPQGYGQQNQ YNSSSGGGGG GGGGGNYGQD
QSSMSSGGGS GGGYGNQDQS GGGGSGGYGQ QDRGGRGRGG SGGGGGGGGG GYNRSSGGYE
PRGRGGGRGG RGGMGGSDRG GFNKFGGPRD QGSRHDSAEQ DNSDNNTIFV QGLGENVTIE
SVADYFKQIG IIKTNKKTGQ PMINLYTDRE TGKLKGEATV SFDDPPSAKA AIDWFDGKEF
SGNPIKVSFA TRRADFNRGG GNGRGGRGRG GPMGRGGYGG GGSGGGGRGG FPSGGGGGGG
QQRAGDWKCP NPTCENMNFS WRNECNQCKA PKPDGPGGGP GGSHMGGNYG DDRRGGRGGY
DRGGYRGRGG DRGGFRGGRG GGDRGGFGPG KMDSRGEQRQ DRRERPY*
speed 0.85 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