Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.962491256665302 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM091091)
  • known disease mutation at this position (HGMD CM104703)
  • known disease mutation: rs16225 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:31202740G>AN/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.1565G>A
cDNA.1629G>A
g.11310G>A
AA changes R522H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 522
frameshift no
known variant Reference ID: rs121909671
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16225 (pathogenic for Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM091091)

known disease mutation at this position, please check HGMD for details (HGMD ID CM091091)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104703)

known disease mutation at this position, please check HGMD for details (HGMD ID CM091091)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104703)
known disease mutation at this position, please check HGMD for details (HGMD ID CM091091)

known disease mutation at this position, please check HGMD for details (HGMD ID CM091091)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104703)
known disease mutation at this position, please check HGMD for details (HGMD ID CM091091)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104703)
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)0.1650.967
1.2390.971
(flanking)0.1030.966
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased11313wt: 0.9717 / mu: 0.9902 (marginal change - not scored)wt: TCGCAGGGAGAGGCC
mu: TCACAGGGAGAGGCC		 GCAG|ggag
Donor increased11311wt: 0.31 / mu: 0.65wt: GATCGCAGGGAGAGG
mu: GATCACAGGGAGAGG		 TCGC|aggg
Donor increased11314wt: 0.87 / mu: 0.96wt: CGCAGGGAGAGGCCG
mu: CACAGGGAGAGGCCG		 CAGG|gaga
Donor marginally increased11312wt: 0.8577 / mu: 0.8853 (marginal change - not scored)wt: ATCGCAGGGAGAGGC
mu: ATCACAGGGAGAGGC		 CGCA|ggga
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      522KMDSRGEHRQDRRERPY*
mutated  not conserved    522KMDSRGEHRQDHRERPY
Ptroglodytes  all identical  ENSPTRG00000008038  515KMDSRGEHRQDRRERPY
Mmulatta  all identical  ENSMMUG00000019637  517KMDSRGEHRQDRRERPY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000030795  513KMDSRGEHRQDRRERPY
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000037968  537KMDSRGDHRHDRRDRPY
Dmelanogaster  all identical  FBgn0011571  374RFNDNNGGGRGGR
Celegans  no alignment  C27H5.3  n/a
Xtropicalis  all identical  ENSXETG00000001951  534KMDSRGDHRQDRRDRPY
protein features
start (aa)end (aa)featuredetails 
371526COMPBIASArg/Gly-rich.lost
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 1565
cDNA position
(for ins/del: last normal base / first normal base)		 1629
gDNA position
(for ins/del: last normal base / first normal base)		 11310
chromosomal position
(for ins/del: last normal base / first normal base)		 31202740
original gDNA sequence snippet GGGTGAGCACAGACAGGATCGCAGGGAGAGGCCGTATTAAT
altered gDNA sequence snippet GGGTGAGCACAGACAGGATCACAGGGAGAGGCCGTATTAAT
original cDNA sequence snippet GGGTGAGCACAGACAGGATCGCAGGGAGAGGCCGTATTAAT
altered cDNA sequence snippet GGGTGAGCACAGACAGGATCACAGGGAGAGGCCGTATTAAT
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 KMDSRGEHRQ DHRERPY*
speed 1.30 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