Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999247821036729 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM030410)
  • known disease mutation at this position (HGMD CM031138)
  • known disease mutation: rs12147 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:66298444T>CN/A show variant in all transcripts   IGV
HGNC symbol BBS1
Ensembl transcript ID ENST00000318312
Genbank transcript ID NM_024649
UniProt peptide Q8NFJ9
alteration type single base exchange
alteration region CDS
DNA changes c.1553T>C
cDNA.1604T>C
g.20368T>C
AA changes L518P Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 518
frameshift no
known variant Reference ID: rs121917778
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs12147 (pathogenic for Retinal dystrophy|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0550.951
1.6370.938
(flanking)0.8370.765
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 increased20359wt: 0.7044 / mu: 0.7462 (marginal change - not scored)wt: CTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCC
mu: CTCAACAACCCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCC		 tcct|GGGG
Acc marginally increased20369wt: 0.4142 / mu: 0.4285 (marginal change - not scored)wt: CGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGA
mu: CGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACGA		 gctg|GTCT
Acc marginally increased20361wt: 0.8186 / mu: 0.8601 (marginal change - not scored)wt: CAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTG
mu: CAACAACCCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTG		 ctgg|GGCT
distance from splice site 56
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      518NTSTTRPVLGLLVCFLYNEALYSL
mutated  not conserved    518NTSTTRPVLGLPVCFLYNEALYS
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000006464  518NTSTARPVLGLHVCFLYNKALYA
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000004418  497NTAACRPVMNLAISILYDETLYK
Drerio  not conserved  ENSDARG00000075169  513NTAASRPVMNLAISFLYDESLYS
Dmelanogaster  all conserved  FBgn0035741  522NLSTFKMASNLVVLLHADRRHYT
Celegans  not conserved  Y105E8A.5  502-SSSKQNLYDMHLSIISDPELYD
Xtropicalis  all identical  ENSXETG00000026165  510NTSVNRPSMQLLISFLYDEKLYK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1782 / 1782
position (AA) of stopcodon in wt / mu AA sequence 594 / 594
position of stopcodon in wt / mu cDNA 1833 / 1833
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 52 / 52
chromosome 11
strand 1
last intron/exon boundary 1747
theoretical NMD boundary in CDS 1645
length of CDS 1782
coding sequence (CDS) position 1553
cDNA position
(for ins/del: last normal base / first normal base)		 1604
gDNA position
(for ins/del: last normal base / first normal base)		 20368
chromosomal position
(for ins/del: last normal base / first normal base)		 66298444
original gDNA sequence snippet CCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACG
altered gDNA sequence snippet CCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACG
original cDNA sequence snippet CCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACG
altered cDNA sequence snippet CCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACG
wildtype AA sequence MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP
YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS
EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA
KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK
VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD
KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA
QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST
TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL
VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA*
mutated AA sequence MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP
YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS
EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA
KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK
VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD
KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA
QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST
TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLPVC FLYNEALYSL PRAFFKVPLL
VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA*
speed 0.79 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