Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000449107
Querying Taster for transcript #2: ENST00000303498
Querying Taster for transcript #3: ENST00000437172
Querying Taster for transcript #4: ENST00000383778
MT speed 0 s - this script 4.185444 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BTDdisease_causing_automatic0.999999998051853simple_aae0T534Msingle base exchangers104893688show file
BTDdisease_causing_automatic0.999999998051853simple_aae0T534Msingle base exchangers104893688show file
BTDdisease_causing_automatic0.999999998051853simple_aae0T512Msingle base exchangers104893688show file
BTDdisease_causing_automatic0.999999998051853simple_aae0T532Msingle base exchangers104893688show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998051853 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980260)
  • known disease mutation: rs1897 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:15686958C>TN/A show variant in all transcripts   IGV
HGNC symbol BTD
Ensembl transcript ID ENST00000449107
Genbank transcript ID N/A
UniProt peptide P43251
alteration type single base exchange
alteration region CDS
DNA changes c.1601C>T
cDNA.1689C>T
g.44111C>T
AA changes T534M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 534
frameshift no
known variant Reference ID: rs104893688
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC066

known disease mutation: rs1897 (pathogenic for Biotinidase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7231
4.1010.999
(flanking)-1.7050.102
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 132
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      534LRKSRLSSGLVTAALYGRLYERD*
mutated  not conserved    534LRKSRLSSGLVMAALYGR
Ptroglodytes  all identical  ENSPTRG00000014668  532LRKSRLSSGLVTAALYGRLYERD
Mmulatta  all identical  ENSMMUG00000020762  428GLSSGLVTAALYGRLYERD
Fcatus  all identical  ENSFCAG00000011306  517LSKSGLSSGLVTAALYGRLYERD
Mmusculus  all identical  ENSMUSG00000021900  518LRKRGLSSGLVTAALYGRLYER
Ggallus  all identical  ENSGALG00000011216  506LSKNRTSNGLLTAALYGRWYEKD
Trubripes  all identical  ENSTRUG00000014869  477VTACLYGRMHHLD
Drerio  all identical  ENSDARG00000006926  507GMSAGLVTAVLYGRHYEKD
Dmelanogaster  all identical  FBgn0040069  491LKETQELSNLLTFGIYG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008991  500MKNENMSSGLVTAALY
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1638 / 1638
position (AA) of stopcodon in wt / mu AA sequence 546 / 546
position of stopcodon in wt / mu cDNA 1726 / 1726
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 89 / 89
chromosome 3
strand 1
last intron/exon boundary 554
theoretical NMD boundary in CDS 415
length of CDS 1638
coding sequence (CDS) position 1601
cDNA position
(for ins/del: last normal base / first normal base)		 1689
gDNA position
(for ins/del: last normal base / first normal base)		 44111
chromosomal position
(for ins/del: last normal base / first normal base)		 15686958
original gDNA sequence snippet GCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCT
altered gDNA sequence snippet GCTGTCCTCTGGGCTGGTGATGGCGGCTCTCTATGGGCGCT
original cDNA sequence snippet GCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCT
altered cDNA sequence snippet GCTGTCCTCTGGGCTGGTGATGGCGGCTCTCTATGGGCGCT
wildtype AA sequence MPEGGGTSRR LLPMQSRFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*
mutated AA sequence MPEGGGTSRR LLPMQSRFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVMAALYGR
LYERD*
speed 0.63 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998051853 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980260)
  • known disease mutation: rs1897 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:15686958C>TN/A show variant in all transcripts   IGV
HGNC symbol BTD
Ensembl transcript ID ENST00000437172
Genbank transcript ID N/A
UniProt peptide P43251
alteration type single base exchange
alteration region CDS
DNA changes c.1601C>T
cDNA.1833C>T
g.44111C>T
AA changes T534M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 534
frameshift no
known variant Reference ID: rs104893688
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC066

known disease mutation: rs1897 (pathogenic for Biotinidase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7231
4.1010.999
(flanking)-1.7050.102
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 265
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      534LRKSRLSSGLVTAALYGRLYERD*
mutated  not conserved    534LRKSRLSSGLVMAALYGR
Ptroglodytes  all identical  ENSPTRG00000014668  532LRKSRLSSGLVTAALYGRLYERD
Mmulatta  all identical  ENSMMUG00000020762  428GLSSGLVTAALYGRLYERD
Fcatus  all identical  ENSFCAG00000011306  517LSKSGLSSGLVTAALYGRLYERD
Mmusculus  all identical  ENSMUSG00000021900  518LRKRGLSSGLVTAALYGRLYER
Ggallus  all identical  ENSGALG00000011216  506LSKNRTSNGLLTAALYGRWYEKD
Trubripes  all identical  ENSTRUG00000014869  477VTACLYGRMHHLD
Drerio  all identical  ENSDARG00000006926  507GMSAGLVTAVLYGRHYEKD
Dmelanogaster  all identical  FBgn0040069  491LKETQELSNLLTFGIYG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008991  500MKNENMSSGLVTAALY
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1638 / 1638
position (AA) of stopcodon in wt / mu AA sequence 546 / 546
position of stopcodon in wt / mu cDNA 1870 / 1870
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 233 / 233
chromosome 3
strand 1
last intron/exon boundary 698
theoretical NMD boundary in CDS 415
length of CDS 1638
coding sequence (CDS) position 1601
cDNA position
(for ins/del: last normal base / first normal base)		 1833
gDNA position
(for ins/del: last normal base / first normal base)		 44111
chromosomal position
(for ins/del: last normal base / first normal base)		 15686958
original gDNA sequence snippet GCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCT
altered gDNA sequence snippet GCTGTCCTCTGGGCTGGTGATGGCGGCTCTCTATGGGCGCT
original cDNA sequence snippet GCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCT
altered cDNA sequence snippet GCTGTCCTCTGGGCTGGTGATGGCGGCTCTCTATGGGCGCT
wildtype AA sequence MARKETQLII KMNHLARFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*
mutated AA sequence MARKETQLII KMNHLARFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVMAALYGR
LYERD*
speed 0.64 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998051853 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980260)
  • known disease mutation: rs1897 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:15686958C>TN/A show variant in all transcripts   IGV
HGNC symbol BTD
Ensembl transcript ID ENST00000383778
Genbank transcript ID N/A
UniProt peptide P43251
alteration type single base exchange
alteration region CDS
DNA changes c.1535C>T
cDNA.1893C>T
g.44111C>T
AA changes T512M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 512
frameshift no
known variant Reference ID: rs104893688
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC066

known disease mutation: rs1897 (pathogenic for Biotinidase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7231
4.1010.999
(flanking)-1.7050.102
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 246
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      512LRKSRLSSGLVTAALYGRLYERD*
mutated  not conserved    512LRKSRLSSGLVMAALYGRLYERD
Ptroglodytes  all identical  ENSPTRG00000014668  532LRKSRLSSGLVTAALYGRLYERD
Mmulatta  all identical  ENSMMUG00000020762  428GLSSGLVTAALYGRLYERD
Fcatus  all identical  ENSFCAG00000011306  517LSKSGLSSGLVTAALYGRLYERD
Mmusculus  all identical  ENSMUSG00000021900  518LRKRGLSSGLVTAALYGRLYER
Ggallus  all identical  ENSGALG00000011216  506LSKNRTSNGLLTAALYGRWYEKD
Trubripes  all identical  ENSTRUG00000014869  477VTACLYGRMHHLD
Drerio  all identical  ENSDARG00000006926  507GMSAGLVTAVLYGRHYEKD
Dmelanogaster  all identical  FBgn0040069  491LKETQELSNLLTFGIYG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008991  500MKNENMSSGLVTAALY
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1572 / 1572
position (AA) of stopcodon in wt / mu AA sequence 524 / 524
position of stopcodon in wt / mu cDNA 1930 / 1930
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 359 / 359
chromosome 3
strand 1
last intron/exon boundary 758
theoretical NMD boundary in CDS 349
length of CDS 1572
coding sequence (CDS) position 1535
cDNA position
(for ins/del: last normal base / first normal base)		 1893
gDNA position
(for ins/del: last normal base / first normal base)		 44111
chromosomal position
(for ins/del: last normal base / first normal base)		 15686958
original gDNA sequence snippet GCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCT
altered gDNA sequence snippet GCTGTCCTCTGGGCTGGTGATGGCGGCTCTCTATGGGCGCT
original cDNA sequence snippet GCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCT
altered cDNA sequence snippet GCTGTCCTCTGGGCTGGTGATGGCGGCTCTCTATGGGCGCT
wildtype AA sequence MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA AVYEHPSILS LNPLALISRQ
EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF TRTSIYPFLD FMPSPQVVRW
NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH SSDPRCPKDG RYQFNTNVVF
SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF GIFTCFDILF FDPAIRVLRD
YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN VHHPVLGMTG SGIHTPLESF
WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK FLKILSGDPY CEKDAQEVHC
DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL
GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL
TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY ERD*
mutated AA sequence MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA AVYEHPSILS LNPLALISRQ
EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF TRTSIYPFLD FMPSPQVVRW
NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH SSDPRCPKDG RYQFNTNVVF
SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF GIFTCFDILF FDPAIRVLRD
YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN VHHPVLGMTG SGIHTPLESF
WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK FLKILSGDPY CEKDAQEVHC
DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL
GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL
TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VMAALYGRLY ERD*
speed 0.58 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998051853 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980260)
  • known disease mutation: rs1897 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:15686958C>TN/A show variant in all transcripts   IGV
HGNC symbol BTD
Ensembl transcript ID ENST00000303498
Genbank transcript ID NM_000060
UniProt peptide P43251
alteration type single base exchange
alteration region CDS
DNA changes c.1595C>T
cDNA.1704C>T
g.44111C>T
AA changes T532M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 532
frameshift no
known variant Reference ID: rs104893688
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC066

known disease mutation: rs1897 (pathogenic for Biotinidase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980260)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7231
4.1010.999
(flanking)-1.7050.102
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 372
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      532LRKSRLSSGLVTAALYGRLYERD*
mutated  not conserved    532LRKSRLSSGLVMAALYGRLY
Ptroglodytes  all identical  ENSPTRG00000014668  532LRKSRLSSGLVTAALYGRLY
Mmulatta  all identical  ENSMMUG00000020762  428GLSSGLVTAALYGRLYERD
Fcatus  all identical  ENSFCAG00000011306  517LSKSGLSSGLVTAALYGRLYERD
Mmusculus  all identical  ENSMUSG00000021900  518LRKRGLSSGLVTAALYGRLYER
Ggallus  all identical  ENSGALG00000011216  506LSKNRTSNGLLTAALYGRWYEKD
Trubripes  all identical  ENSTRUG00000014869  477VTACLYGRMHHLD
Drerio  all identical  ENSDARG00000006926  507GMSAGLVTAVLYGRHYEKD
Dmelanogaster  all identical  FBgn0040069  491LKETQELSNLLTFGIYG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008991  500MKNENMSSGLVTAALY
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1632 / 1632
position (AA) of stopcodon in wt / mu AA sequence 544 / 544
position of stopcodon in wt / mu cDNA 1741 / 1741
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 110 / 110
chromosome 3
strand 1
last intron/exon boundary 569
theoretical NMD boundary in CDS 409
length of CDS 1632
coding sequence (CDS) position 1595
cDNA position
(for ins/del: last normal base / first normal base)		 1704
gDNA position
(for ins/del: last normal base / first normal base)		 44111
chromosomal position
(for ins/del: last normal base / first normal base)		 15686958
original gDNA sequence snippet GCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCT
altered gDNA sequence snippet GCTGTCCTCTGGGCTGGTGATGGCGGCTCTCTATGGGCGCT
original cDNA sequence snippet GCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCT
altered cDNA sequence snippet GCTGTCCTCTGGGCTGGTGATGGCGGCTCTCTATGGGCGCT
wildtype AA sequence MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA
AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF
GIFTCFDILF FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK
FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN
GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG
IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY
ERD*
mutated AA sequence MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA
AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF
GIFTCFDILF FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK
FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN
GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG
IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VMAALYGRLY
ERD*
speed 0.95 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
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Problems