Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999991328611 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM055502)
  • known disease mutation: rs2659 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:33217182G>AN/A show variant in all transcripts   IGV
HGNC symbol BBS9
Ensembl transcript ID ENST00000242067
Genbank transcript ID NM_198428
UniProt peptide Q3SYG4
alteration type single base exchange
alteration region CDS
DNA changes c.421G>A
cDNA.942G>A
g.48327G>A
AA changes G141R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 141
frameshift no
known variant Reference ID: rs137852857
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs2659 (pathogenic for Bardet-Biedl syndrome 9) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM055502)

known disease mutation at this position, please check HGMD for details (HGMD ID CM055502)
known disease mutation at this position, please check HGMD for details (HGMD ID CM055502)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.260.969
6.1131
(flanking)6.1131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      141NLQRTACNMTYGSFGGVKGRDLIC
mutated  not conserved    141NLQRTACNMTYRSFGGVKGRDLI
Ptroglodytes  all identical  ENSPTRG00000019069  141NLQRTACNMTYGSFGGVKGRDLI
Mmulatta  all identical  ENSMMUG00000002886  141NLQRTACNMTYGSFGGIKGNLLL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035919  141HLQRTACNMTYGPFGGVKGRDLI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034622  141KFQRVSFGLCQGHFGQVKGREFF
Celegans  not conserved  C48B6.8  132SFSTSAWNMCVIPIE--ESTPQI
Xtropicalis  all identical  ENSXETG00000021125  141NLQRTSCNMTYGPFGGVKEGRDLI
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2664 / 2664
position (AA) of stopcodon in wt / mu AA sequence 888 / 888
position of stopcodon in wt / mu cDNA 3185 / 3185
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 522 / 522
chromosome 7
strand 1
last intron/exon boundary 3154
theoretical NMD boundary in CDS 2582
length of CDS 2664
coding sequence (CDS) position 421
cDNA position
(for ins/del: last normal base / first normal base)		 942
gDNA position
(for ins/del: last normal base / first normal base)		 48327
chromosomal position
(for ins/del: last normal base / first normal base)		 33217182
original gDNA sequence snippet CAGCCTGCAATATGACCTATGGATCATTTGGTGGTGTAAAA
altered gDNA sequence snippet CAGCCTGCAATATGACCTATAGATCATTTGGTGGTGTAAAA
original cDNA sequence snippet CAGCCTGCAATATGACCTATGGATCATTTGGTGGTGTAAAA
altered cDNA sequence snippet CAGCCTGCAATATGACCTATAGATCATTTGGTGGTGTAAAA
wildtype AA sequence MSLFKARDWW STILGDKEEF DQGCLCLANV DNSGNGQDKI IVGSFMGYLR IFSPHPAKTG
DGAQAEDLLL EVDLRDPVLQ VEVGKFVSGT EMLHLAVLHS RKLCVYSVSG TLGNVEHGNQ
CQMKLMYEHN LQRTACNMTY GSFGGVKGRD LICIQSMDGM LMVFEQESYA FGRFLPGFLL
PGPLAYSSRT DSFLTVSSCQ QVESYKYQVL AFATDADKRQ ETEQQKLGSG KRLVVDWTLN
IGEQALDICI VSFNQSASSV FVLGERNFFC LKDNGQIRFM KKLDWSPSCF LPYCSVSEGT
INTLIGNHNN MLHIYQDVTL KWATQLPHIP VAVRVGCLHD LKGVIVTLSD DGHLQCSYLG
TDPSLFQAPN VQSRELNYDE LDVEMKELQK IIKDVNKSQG VWPMTEREDD LNVSVVVSPN
FDSVSQATDV EVGTDLVPSV TVKVTLQNRV ILQKAKLSVY VQPPLELTCD QFTFEFMTPD
LTRTVSFSVY LKRSYTPSEL EGNAVVSYSR PTDRNPDGIP RVIQCKFRLP LKLICLPGQP
SKTASHKITI DTNKSPVSLL SLFPGFASQS DDDQVNVMGF HFLGGARITV LASKTSQRYR
IQSEQFEDLW LITNELILRL QEYFEKQGVK DFACSFSGSI PLQEYFELID HHFELRINGE
KLEELLSERA VQFRAIQRRL LARFKDKTPA PLQHLDTLLD GTYKQVIALA DAVEENQGNL
FQSFTRLKSA THLVILLIAL WQKLSADQVA ILEAAFLPLQ EDTQELGWEE TVDAAISHLL
KTCLSKSSKE QALNLNSQLN IPKDTSQLKK HITLLCDRLS KGGRLCLSTD AAAPQTMVMP
GGCTTIPESD LEERSVEQDS TELFTNHRHL TAETPRPEVS PLQGVSE*
mutated AA sequence MSLFKARDWW STILGDKEEF DQGCLCLANV DNSGNGQDKI IVGSFMGYLR IFSPHPAKTG
DGAQAEDLLL EVDLRDPVLQ VEVGKFVSGT EMLHLAVLHS RKLCVYSVSG TLGNVEHGNQ
CQMKLMYEHN LQRTACNMTY RSFGGVKGRD LICIQSMDGM LMVFEQESYA FGRFLPGFLL
PGPLAYSSRT DSFLTVSSCQ QVESYKYQVL AFATDADKRQ ETEQQKLGSG KRLVVDWTLN
IGEQALDICI VSFNQSASSV FVLGERNFFC LKDNGQIRFM KKLDWSPSCF LPYCSVSEGT
INTLIGNHNN MLHIYQDVTL KWATQLPHIP VAVRVGCLHD LKGVIVTLSD DGHLQCSYLG
TDPSLFQAPN VQSRELNYDE LDVEMKELQK IIKDVNKSQG VWPMTEREDD LNVSVVVSPN
FDSVSQATDV EVGTDLVPSV TVKVTLQNRV ILQKAKLSVY VQPPLELTCD QFTFEFMTPD
LTRTVSFSVY LKRSYTPSEL EGNAVVSYSR PTDRNPDGIP RVIQCKFRLP LKLICLPGQP
SKTASHKITI DTNKSPVSLL SLFPGFASQS DDDQVNVMGF HFLGGARITV LASKTSQRYR
IQSEQFEDLW LITNELILRL QEYFEKQGVK DFACSFSGSI PLQEYFELID HHFELRINGE
KLEELLSERA VQFRAIQRRL LARFKDKTPA PLQHLDTLLD GTYKQVIALA DAVEENQGNL
FQSFTRLKSA THLVILLIAL WQKLSADQVA ILEAAFLPLQ EDTQELGWEE TVDAAISHLL
KTCLSKSSKE QALNLNSQLN IPKDTSQLKK HITLLCDRLS KGGRLCLSTD AAAPQTMVMP
GGCTTIPESD LEERSVEQDS TELFTNHRHL TAETPRPEVS PLQGVSE*
speed 1.23 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