Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999970870102042 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM091089)
  • known disease mutation: rs16223 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:31202731G>AN/A show variant in all transcripts   IGV
HGNC symbol FUS
Ensembl transcript ID ENST00000254108
Genbank transcript ID NM_001170634
UniProt peptide P35637
alteration type single base exchange
alteration region CDS
DNA changes c.1553G>A
cDNA.1658G>A
g.11301G>A
AA changes R518K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 518
frameshift no
known variant Reference ID: rs121909669
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16223 (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 CM091089)

known disease mutation at this position, please check HGMD for details (HGMD ID CM091089)
known disease mutation at this position, please check HGMD for details (HGMD ID CM091089)
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
4.1681
(flanking)2.0511
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 increased11304wt: 0.8530 / mu: 0.8921 (marginal change - not scored)wt: CAGACAGGATCGCAG
mu: CAAACAGGATCGCAG		 GACA|ggat
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      518GPGKMDSRGEHRQDRRERPY*
mutated  all conserved    518GPGKMDSRGEHKQDRRERPY
Ptroglodytes  all identical  ENSPTRG00000008038  512GPGKMDSRGEHRQDRRERPY
Mmulatta  all identical  ENSMMUG00000019637  514GPGKMDSRGEHRQDRRERPY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000030795  510GPGKMDSRGEHRQDRRERPY
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000037968  534GPGKMDSRGDHRHDRRDRPY
Dmelanogaster  all identical  FBgn0011571  371GYSRFNDNNGGGRGGR
Celegans  no alignment  C27H5.3  n/a
Xtropicalis  all identical  ENSXETG00000001951  531GPGKMDSRGDHRQDRRDRPY
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 1581 / 1581
position (AA) of stopcodon in wt / mu AA sequence 527 / 527
position of stopcodon in wt / mu cDNA 1686 / 1686
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 106 / 106
chromosome 16
strand 1
last intron/exon boundary 1647
theoretical NMD boundary in CDS 1491
length of CDS 1581
coding sequence (CDS) position 1553
cDNA position
(for ins/del: last normal base / first normal base)		 1658
gDNA position
(for ins/del: last normal base / first normal base)		 11301
chromosomal position
(for ins/del: last normal base / first normal base)		 31202731
original gDNA sequence snippet TTTTTGCAGGGGTGAGCACAGACAGGATCGCAGGGAGAGGC
altered gDNA sequence snippet TTTTTGCAGGGGTGAGCACAAACAGGATCGCAGGGAGAGGC
original cDNA sequence snippet GGATTCCAGGGGTGAGCACAGACAGGATCGCAGGGAGAGGC
altered cDNA sequence snippet GGATTCCAGGGGTGAGCACAAACAGGATCGCAGGGAGAGGC
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 QGSRHDSEQD NSDNNTIFVQ GLGENVTIES
VADYFKQIGI IKTNKKTGQP MINLYTDRET GKLKGEATVS FDDPPSAKAA IDWFDGKEFS
GNPIKVSFAT RRADFNRGGG NGRGGRGRGG PMGRGGYGGG GSGGGGRGGF PSGGGGGGGQ
QRAGDWKCPN PTCENMNFSW RNECNQCKAP KPDGPGGGPG GSHMGGNYGD DRRGGRGGYD
RGGYRGRGGD RGGFRGGRGG GDRGGFGPGK MDSRGEHRQD RRERPY*
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 QGSRHDSEQD NSDNNTIFVQ GLGENVTIES
VADYFKQIGI IKTNKKTGQP MINLYTDRET GKLKGEATVS FDDPPSAKAA IDWFDGKEFS
GNPIKVSFAT RRADFNRGGG NGRGGRGRGG PMGRGGYGGG GSGGGGRGGF PSGGGGGGGQ
QRAGDWKCPN PTCENMNFSW RNECNQCKAP KPDGPGGGPG GSHMGGNYGD DRRGGRGGYD
RGGYRGRGGD RGGFRGGRGG GDRGGFGPGK MDSRGEHKQD RRERPY*
speed 0.53 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