Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999798966 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM080098)
  • known disease mutation: rs6162 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:170350275A>GN/A show variant in all transcripts   IGV
HGNC symbol BBS5
Ensembl transcript ID ENST00000392663
Genbank transcript ID N/A
UniProt peptide Q8N3I7
alteration type single base exchange
alteration region CDS
DNA changes c.547A>G
cDNA.618A>G
g.14588A>G
AA changes T183A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 183
frameshift no
known variant Reference ID: rs121908582
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs6162 (pathogenic for Bardet-Biedl syndrome 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM080098)

known disease mutation at this position, please check HGMD for details (HGMD ID CM080098)
known disease mutation at this position, please check HGMD for details (HGMD ID CM080098)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1070.995
5.251
(flanking)4.5131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased14595wt: 0.76 / mu: 0.88wt: AACCTTTTTTATTACCAATGTGAGAATTGTGTGGCATGCAA
mu: AACCTTTTTTATTGCCAATGTGAGAATTGTGTGGCATGCAA		 atgt|GAGA
Acc marginally increased14586wt: 0.7697 / mu: 0.8064 (marginal change - not scored)wt: CAATTTAGGAACCTTTTTTATTACCAATGTGAGAATTGTGT
mu: CAATTTAGGAACCTTTTTTATTGCCAATGTGAGAATTGTGT		 ttat|TACC
Acc increased14592wt: 0.63 / mu: 0.72wt: AGGAACCTTTTTTATTACCAATGTGAGAATTGTGTGGCATG
mu: AGGAACCTTTTTTATTGCCAATGTGAGAATTGTGTGGCATG		 ccaa|TGTG
Acc marginally increased14597wt: 0.8618 / mu: 0.8721 (marginal change - not scored)wt: CCTTTTTTATTACCAATGTGAGAATTGTGTGGCATGCAAAT
mu: CCTTTTTTATTGCCAATGTGAGAATTGTGTGGCATGCAAAT		 gtga|GAAT
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      183SDQGNLGTFFITNVRIVWHANMND
mutated  not conserved    183FIANVRIVWHANMN
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000020506  183FITNVRIVWHANMN
Fcatus  all identical  ENSFCAG00000010291  183FITNVRIVWHANMN
Mmusculus  all identical  ENSMUSG00000063145  183FITNVRIVWHANMN
Ggallus  all identical  ENSGALG00000009846  184ITNVRVVWHANMN
Trubripes  all identical  ENSTRUG00000017898  184ITNVRIVWHANMN
Drerio  all identical  ENSDARG00000039827  184ITNVRIVWHANMN
Dmelanogaster  all identical  FBgn0037280  201LGSFVVTNIRLVWFADAN
Celegans  all identical  R01H10.6  193VFVITNIRVVWYAEMN
Xtropicalis  all identical  ENSXETG00000018935  169SDQGNLGTFFITNVRIVWHANMN
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 963 / 963
position (AA) of stopcodon in wt / mu AA sequence 321 / 321
position of stopcodon in wt / mu cDNA 1034 / 1034
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 72 / 72
chromosome 2
strand 1
last intron/exon boundary 933
theoretical NMD boundary in CDS 811
length of CDS 963
coding sequence (CDS) position 547
cDNA position
(for ins/del: last normal base / first normal base)		 618
gDNA position
(for ins/del: last normal base / first normal base)		 14588
chromosomal position
(for ins/del: last normal base / first normal base)		 170350275
original gDNA sequence snippet ATTTAGGAACCTTTTTTATTACCAATGTGAGAATTGTGTGG
altered gDNA sequence snippet ATTTAGGAACCTTTTTTATTGCCAATGTGAGAATTGTGTGG
original cDNA sequence snippet ATTTAGGAACCTTTTTTATTACCAATGTGAGAATTGTGTGG
altered cDNA sequence snippet ATTTAGGAACCTTTTTTATTGCCAATGTGAGAATTGTGTGG
wildtype AA sequence MSVLDALWED RDVRFDLSAQ QMKTRPGEVL IDCLDSIEDT KGNNGDRGRL LVTNLRILWH
SLALSRVNVS VGYNCILNIT TRTANSKLRG QTEALYILTK CNSTRFEFIF TNLVPGSPRL
FTSVMAVHRA YETSKMYRDF KLRSALIQNK QLRLLPQEHV YDKINGVWNL SSDQGNLGTF
FITNVRIVWH ANMNDSFNVS IPYLQISGGY VLGFKIDPVE KLQESVKEIN SLHKVYSASP
IFGVDYEMEE KPQPLEALTV EQIQDDVEID SDGHTDAFVA YFADGNKQQD REPVFSEELG
LAIEKLKDGF TLQGLWEVMS *
mutated AA sequence MSVLDALWED RDVRFDLSAQ QMKTRPGEVL IDCLDSIEDT KGNNGDRGRL LVTNLRILWH
SLALSRVNVS VGYNCILNIT TRTANSKLRG QTEALYILTK CNSTRFEFIF TNLVPGSPRL
FTSVMAVHRA YETSKMYRDF KLRSALIQNK QLRLLPQEHV YDKINGVWNL SSDQGNLGTF
FIANVRIVWH ANMNDSFNVS IPYLQISGGY VLGFKIDPVE KLQESVKEIN SLHKVYSASP
IFGVDYEMEE KPQPLEALTV EQIQDDVEID SDGHTDAFVA YFADGNKQQD REPVFSEELG
LAIEKLKDGF TLQGLWEVMS *
speed 0.87 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