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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000360317
Querying Taster for transcript #2: ENST00000394175
Querying Taster for transcript #3: ENST00000309481
Querying Taster for transcript #4: ENST00000520542
Querying Taster for transcript #5: ENST00000418519
Querying Taster for transcript #6: ENST00000394179
MT speed 0 s - this script 6.022907 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GSDMBpolymorphism_automatic1.00797148405718e-12simple_aaeaffectedG304Rsingle base exchangers2305479show file
GSDMBpolymorphism_automatic1.00797148405718e-12simple_aaeaffectedG282Rsingle base exchangers2305479show file
GSDMBpolymorphism_automatic1.00797148405718e-12simple_aaeaffectedG291Rsingle base exchangers2305479show file
GSDMBpolymorphism_automatic1.00797148405718e-12simple_aaeaffectedG295Rsingle base exchangers2305479show file
GSDMBpolymorphism_automatic1.00797148405718e-12simple_aaeaffectedG304Rsingle base exchangers2305479show file
GSDMBpolymorphism_automatic1.00797148405718e-12simple_aaeaffectedG299Rsingle base exchangers2305479show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM174300)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:38062217C>TN/A show variant in all transcripts   IGV
HGNC symbol GSDMB
Ensembl transcript ID ENST00000360317
Genbank transcript ID N/A
UniProt peptide Q8TAX9
alteration type single base exchange
alteration region CDS
DNA changes c.910G>A
cDNA.910G>A
g.15097G>A
AA changes G304R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 304
frameshift no
known variant Reference ID: rs2305479
databasehomozygous (T/T)heterozygousallele carriers
1000G2839921275
ExAC11597957321170

known disease mutation at this position, please check HGMD for details (HGMD ID CM174300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1330
-0.7190
(flanking)-1.6090
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 increased15098wt: 0.6861 / mu: 0.6928 (marginal change - not scored)wt: ATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACC
mu: ATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGACC		 ccgg|GGAG
Acc marginally increased15097wt: 0.3109 / mu: 0.3365 (marginal change - not scored)wt: TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
mu: TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC		 tccg|GGGA
Donor increased15101wt: 0.44 / mu: 0.72wt: CGGGGAGCTACACAT
mu: CAGGGAGCTACACAT		 GGGA|gcta
Donor increased15097wt: 0.35 / mu: 0.77wt: TTTCCGGGGAGCTAC
mu: TTTCCAGGGAGCTAC		 TCCG|ggga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      304LEQRVSEVLISGELHMEDPDKPLL
mutated  not conserved    304LISRELHMEDPDKPL
Ptroglodytes  not conserved  ENSPTRG00000009106  291LISRELHMEDPDKPL
Mmulatta  all identical  ENSMMUG00000004587  231LEQKISEVLIFGELQME
Fcatus  all identical  ENSFCAG00000014987  271ALISGDL--EGPADPL
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000013495  304LSGKASRM----EAVLDDPDNCELTTQSPDLEVL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1251 / 1251
position (AA) of stopcodon in wt / mu AA sequence 417 / 417
position of stopcodon in wt / mu cDNA 1251 / 1251
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 1 / 1
chromosome 17
strand -1
last intron/exon boundary 1099
theoretical NMD boundary in CDS 1048
length of CDS 1251
coding sequence (CDS) position 910
cDNA position
(for ins/del: last normal base / first normal base)		 910
gDNA position
(for ins/del: last normal base / first normal base)		 15097
chromosomal position
(for ins/del: last normal base / first normal base)		 38062217
original gDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered gDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
original cDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered cDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
wildtype AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM NIHFRGKTKS FPEEKDGASS
CLGKSLGSED SRNMKEKLED MESVLKDLTE EKRKDVLNSL AKCLGKEDIR QDLEQRVSEV
LISGELHMED PDKPLLSSLF NAAGVLVEAR AKAILDFLDA LLELSEEQQF VAEALEKGTL
PLLKDQVKSV MEQNWDELAS SPPDMDYDPE ARILCALYVV VSILLELAEG PTSVSS*
mutated AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM NIHFRGKTKS FPEEKDGASS
CLGKSLGSED SRNMKEKLED MESVLKDLTE EKRKDVLNSL AKCLGKEDIR QDLEQRVSEV
LISRELHMED PDKPLLSSLF NAAGVLVEAR AKAILDFLDA LLELSEEQQF VAEALEKGTL
PLLKDQVKSV MEQNWDELAS SPPDMDYDPE ARILCALYVV VSILLELAEG PTSVSS*
speed 1.02 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

polymorphism

 Model: simple_aae, prob: 0.999999999998992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM174300)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:38062217C>TN/A show variant in all transcripts   IGV
HGNC symbol GSDMB
Ensembl transcript ID ENST00000394175
Genbank transcript ID NM_018530
UniProt peptide Q8TAX9
alteration type single base exchange
alteration region CDS
DNA changes c.844G>A
cDNA.1068G>A
g.15097G>A
AA changes G282R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs2305479
databasehomozygous (T/T)heterozygousallele carriers
1000G2839921275
ExAC11597957321170

known disease mutation at this position, please check HGMD for details (HGMD ID CM174300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1330
-0.7190
(flanking)-1.6090
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 increased15098wt: 0.6861 / mu: 0.6928 (marginal change - not scored)wt: ATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACC
mu: ATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGACC		 ccgg|GGAG
Acc marginally increased15097wt: 0.3109 / mu: 0.3365 (marginal change - not scored)wt: TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
mu: TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC		 tccg|GGGA
Donor increased15101wt: 0.44 / mu: 0.72wt: CGGGGAGCTACACAT
mu: CAGGGAGCTACACAT		 GGGA|gcta
Donor increased15097wt: 0.35 / mu: 0.77wt: TTTCCGGGGAGCTAC
mu: TTTCCAGGGAGCTAC		 TCCG|ggga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282LEQRVSEVLISGELHMEDPDKPLL
mutated  not conserved    282LEQRVSEVLISRELHMEDPDKPL
Ptroglodytes  not conserved  ENSPTRG00000009106  291LEQRVSEVLISRELHMEDPDK
Mmulatta  all identical  ENSMMUG00000004587  231LEQKISEVLIFGELQME
Fcatus  all identical  ENSFCAG00000014987  280LE-RVSEALISGDL--
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000013495  304ASRM----EAVLDDPDNCELTTQSPDLEVL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1185 / 1185
position (AA) of stopcodon in wt / mu AA sequence 395 / 395
position of stopcodon in wt / mu cDNA 1409 / 1409
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 225 / 225
chromosome 17
strand -1
last intron/exon boundary 1257
theoretical NMD boundary in CDS 982
length of CDS 1185
coding sequence (CDS) position 844
cDNA position
(for ins/del: last normal base / first normal base)		 1068
gDNA position
(for ins/del: last normal base / first normal base)		 15097
chromosomal position
(for ins/del: last normal base / first normal base)		 38062217
original gDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered gDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
original cDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered cDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
wildtype AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM RKSLGSEDSR NMKEKLEDME
SVLKDLTEEK RKDVLNSLAK CLGKEDIRQD LEQRVSEVLI SGELHMEDPD KPLLSSLFNA
AGVLVEARAK AILDFLDALL ELSEEQQFVA EALEKGTLPL LKDQVKSVME QNWDELASSP
PDMDYDPEAR ILCALYVVVS ILLELAEGPT SVSS*
mutated AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM RKSLGSEDSR NMKEKLEDME
SVLKDLTEEK RKDVLNSLAK CLGKEDIRQD LEQRVSEVLI SRELHMEDPD KPLLSSLFNA
AGVLVEARAK AILDFLDALL ELSEEQQFVA EALEKGTLPL LKDQVKSVME QNWDELASSP
PDMDYDPEAR ILCALYVVVS ILLELAEGPT SVSS*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM174300)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:38062217C>TN/A show variant in all transcripts   IGV
HGNC symbol GSDMB
Ensembl transcript ID ENST00000309481
Genbank transcript ID NM_001042471
UniProt peptide Q8TAX9
alteration type single base exchange
alteration region CDS
DNA changes c.871G>A
cDNA.942G>A
g.15097G>A
AA changes G291R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 291
frameshift no
known variant Reference ID: rs2305479
databasehomozygous (T/T)heterozygousallele carriers
1000G2839921275
ExAC11597957321170

known disease mutation at this position, please check HGMD for details (HGMD ID CM174300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1330
-0.7190
(flanking)-1.6090
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 increased15098wt: 0.6861 / mu: 0.6928 (marginal change - not scored)wt: ATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACC
mu: ATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGACC		 ccgg|GGAG
Acc marginally increased15097wt: 0.3109 / mu: 0.3365 (marginal change - not scored)wt: TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
mu: TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC		 tccg|GGGA
Donor increased15101wt: 0.44 / mu: 0.72wt: CGGGGAGCTACACAT
mu: CAGGGAGCTACACAT		 GGGA|gcta
Donor increased15097wt: 0.35 / mu: 0.77wt: TTTCCGGGGAGCTAC
mu: TTTCCAGGGAGCTAC		 TCCG|ggga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      291LEQRVSEVLISGELHMEDPDKPLL
mutated  not conserved    291LEQRVSEVLISRELHMEDPDK
Ptroglodytes  not conserved  ENSPTRG00000009106  291LEQRVSEVLISRELHMEDPDK
Mmulatta  all identical  ENSMMUG00000004587  231LEQKISEVLIFGELQME
Fcatus  all identical  ENSFCAG00000014987  280LE-RVSEALISGDL--EGPADPL
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000013495  304LSGKASRM----EAVLDDPDNCELTTQSPDLEVL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1283 / 1283
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 17
strand -1
last intron/exon boundary 1131
theoretical NMD boundary in CDS 1009
length of CDS 1212
coding sequence (CDS) position 871
cDNA position
(for ins/del: last normal base / first normal base)		 942
gDNA position
(for ins/del: last normal base / first normal base)		 15097
chromosomal position
(for ins/del: last normal base / first normal base)		 38062217
original gDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered gDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
original cDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered cDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
wildtype AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM KKDGASSCLG KSLGSEDSRN
MKEKLEDMES VLKDLTEEKR KDVLNSLAKC LGKEDIRQDL EQRVSEVLIS GELHMEDPDK
PLLSSLFNAA GVLVEARAKA ILDFLDALLE LSEEQQFVAE ALEKGTLPLL KDQVKSVMEQ
NWDELASSPP DMDYDPEARI LCALYVVVSI LLELAEGPTS VSS*
mutated AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM KKDGASSCLG KSLGSEDSRN
MKEKLEDMES VLKDLTEEKR KDVLNSLAKC LGKEDIRQDL EQRVSEVLIS RELHMEDPDK
PLLSSLFNAA GVLVEARAKA ILDFLDALLE LSEEQQFVAE ALEKGTLPLL KDQVKSVMEQ
NWDELASSPP DMDYDPEARI LCALYVVVSI LLELAEGPTS VSS*
speed 0.99 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

polymorphism

 Model: simple_aae, prob: 0.999999999998992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM174300)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:38062217C>TN/A show variant in all transcripts   IGV
HGNC symbol GSDMB
Ensembl transcript ID ENST00000520542
Genbank transcript ID NM_001165959
UniProt peptide Q8TAX9
alteration type single base exchange
alteration region CDS
DNA changes c.883G>A
cDNA.990G>A
g.15097G>A
AA changes G295R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 295
frameshift no
known variant Reference ID: rs2305479
databasehomozygous (T/T)heterozygousallele carriers
1000G2839921275
ExAC11597957321170

known disease mutation at this position, please check HGMD for details (HGMD ID CM174300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1330
-0.7190
(flanking)-1.6090
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 increased15098wt: 0.6861 / mu: 0.6928 (marginal change - not scored)wt: ATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACC
mu: ATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGACC		 ccgg|GGAG
Acc marginally increased15097wt: 0.3109 / mu: 0.3365 (marginal change - not scored)wt: TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
mu: TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC		 tccg|GGGA
Donor increased15101wt: 0.44 / mu: 0.72wt: CGGGGAGCTACACAT
mu: CAGGGAGCTACACAT		 GGGA|gcta
Donor increased15097wt: 0.35 / mu: 0.77wt: TTTCCGGGGAGCTAC
mu: TTTCCAGGGAGCTAC		 TCCG|ggga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      295LEQRVSEVLISGELHMEDPDKPLL
mutated  not conserved    295LEQRVSEVLISRELHME
Ptroglodytes  not conserved  ENSPTRG00000009106  291LEQRVSEVLISRELHME
Mmulatta  all identical  ENSMMUG00000004587  231LEQKISEVLIFGELQME
Fcatus  all identical  ENSFCAG00000014987  280LE-RVSEALISGDL--
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000013495  304ASRM----EAVLDDPDNCELTTQSPDLEVL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1224 / 1224
position (AA) of stopcodon in wt / mu AA sequence 408 / 408
position of stopcodon in wt / mu cDNA 1331 / 1331
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 108 / 108
chromosome 17
strand -1
last intron/exon boundary 1179
theoretical NMD boundary in CDS 1021
length of CDS 1224
coding sequence (CDS) position 883
cDNA position
(for ins/del: last normal base / first normal base)		 990
gDNA position
(for ins/del: last normal base / first normal base)		 15097
chromosomal position
(for ins/del: last normal base / first normal base)		 38062217
original gDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered gDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
original cDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered cDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
wildtype AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM NIHFRGKTKS FPEGKSLGSE
DSRNMKEKLE DMESVLKDLT EEKRKDVLNS LAKCLGKEDI RQDLEQRVSE VLISGELHME
DPDKPLLSSL FNAAGVLVEA RAKAILDFLD ALLELSEEQQ FVAEALEKGT LPLLKDQVKS
VMEQNWDELA SSPPDMDYDP EARILCALYV VVSILLELAE GPTSVSS*
mutated AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM NIHFRGKTKS FPEGKSLGSE
DSRNMKEKLE DMESVLKDLT EEKRKDVLNS LAKCLGKEDI RQDLEQRVSE VLISRELHME
DPDKPLLSSL FNAAGVLVEA RAKAILDFLD ALLELSEEQQ FVAEALEKGT LPLLKDQVKS
VMEQNWDELA SSPPDMDYDP EARILCALYV VVSILLELAE GPTSVSS*
speed 0.99 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

polymorphism

 Model: simple_aae, prob: 0.999999999998992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM174300)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:38062217C>TN/A show variant in all transcripts   IGV
HGNC symbol GSDMB
Ensembl transcript ID ENST00000418519
Genbank transcript ID NM_001165958
UniProt peptide Q8TAX9
alteration type single base exchange
alteration region CDS
DNA changes c.910G>A
cDNA.1041G>A
g.15097G>A
AA changes G304R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 304
frameshift no
known variant Reference ID: rs2305479
databasehomozygous (T/T)heterozygousallele carriers
1000G2839921275
ExAC11597957321170

known disease mutation at this position, please check HGMD for details (HGMD ID CM174300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1330
-0.7190
(flanking)-1.6090
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 increased15098wt: 0.6861 / mu: 0.6928 (marginal change - not scored)wt: ATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACC
mu: ATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGACC		 ccgg|GGAG
Acc marginally increased15097wt: 0.3109 / mu: 0.3365 (marginal change - not scored)wt: TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
mu: TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC		 tccg|GGGA
Donor increased15101wt: 0.44 / mu: 0.72wt: CGGGGAGCTACACAT
mu: CAGGGAGCTACACAT		 GGGA|gcta
Donor increased15097wt: 0.35 / mu: 0.77wt: TTTCCGGGGAGCTAC
mu: TTTCCAGGGAGCTAC		 TCCG|ggga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      304LEQRVSEVLISGELHMEDPDKPLL
mutated  not conserved    304LISRELHMEDPDKPL
Ptroglodytes  not conserved  ENSPTRG00000009106  291LISRELHMEDPDKPL
Mmulatta  all identical  ENSMMUG00000004587  231LEQKISEVLIFGELQME
Fcatus  all identical  ENSFCAG00000014987  271ALISGDL--EGPADPL
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000013495  304LSGKASRM----EAVLDDPDNCELTTQSPDLEVL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1251 / 1251
position (AA) of stopcodon in wt / mu AA sequence 417 / 417
position of stopcodon in wt / mu cDNA 1382 / 1382
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 132 / 132
chromosome 17
strand -1
last intron/exon boundary 1230
theoretical NMD boundary in CDS 1048
length of CDS 1251
coding sequence (CDS) position 910
cDNA position
(for ins/del: last normal base / first normal base)		 1041
gDNA position
(for ins/del: last normal base / first normal base)		 15097
chromosomal position
(for ins/del: last normal base / first normal base)		 38062217
original gDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered gDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
original cDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered cDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
wildtype AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM NIHFRGKTKS FPEEKDGASS
CLGKSLGSED SRNMKEKLED MESVLKDLTE EKRKDVLNSL AKCLGKEDIR QDLEQRVSEV
LISGELHMED PDKPLLSSLF NAAGVLVEAR AKAILDFLDA LLELSEEQQF VAEALEKGTL
PLLKDQVKSV MEQNWDELAS SPPDMDYDPE ARILCALYVV VSILLELAEG PTSVSS*
mutated AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM NIHFRGKTKS FPEEKDGASS
CLGKSLGSED SRNMKEKLED MESVLKDLTE EKRKDVLNSL AKCLGKEDIR QDLEQRVSEV
LISRELHMED PDKPLLSSLF NAAGVLVEAR AKAILDFLDA LLELSEEQQF VAEALEKGTL
PLLKDQVKSV MEQNWDELAS SPPDMDYDPE ARILCALYVV VSILLELAEG PTSVSS*
speed 1.06 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

polymorphism

 Model: simple_aae, prob: 0.999999999998992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM174300)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:38062217C>TN/A show variant in all transcripts   IGV
HGNC symbol GSDMB
Ensembl transcript ID ENST00000394179
Genbank transcript ID N/A
UniProt peptide Q8TAX9
alteration type single base exchange
alteration region CDS
DNA changes c.895G>A
cDNA.1026G>A
g.15097G>A
AA changes G299R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs2305479
databasehomozygous (T/T)heterozygousallele carriers
1000G2839921275
ExAC11597957321170

known disease mutation at this position, please check HGMD for details (HGMD ID CM174300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1330
-0.7190
(flanking)-1.6090
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 increased15098wt: 0.6861 / mu: 0.6928 (marginal change - not scored)wt: ATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACC
mu: ATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGACC		 ccgg|GGAG
Acc marginally increased15097wt: 0.3109 / mu: 0.3365 (marginal change - not scored)wt: TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
mu: TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC		 tccg|GGGA
Donor increased15101wt: 0.44 / mu: 0.72wt: CGGGGAGCTACACAT
mu: CAGGGAGCTACACAT		 GGGA|gcta
Donor increased15097wt: 0.35 / mu: 0.77wt: TTTCCGGGGAGCTAC
mu: TTTCCAGGGAGCTAC		 TCCG|ggga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299LEQRVSEVLISGELHMEDPDKPLL
mutated  not conserved    299LEQRVSEVLISRELHMEDPDKPL
Ptroglodytes  not conserved  ENSPTRG00000009106  291LEQRVSEVLISRELHMEDPDKPL
Mmulatta  all identical  ENSMMUG00000004587  231LEQKISEVLIFGELQMEDPVNPL
Fcatus  all identical  ENSFCAG00000014987  280LE-RVSEALISGDL--EGPADPL
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000013495  304LSGKASRM----EAVLDDPDNCELTTQSPDLEVL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1236 / 1236
position (AA) of stopcodon in wt / mu AA sequence 412 / 412
position of stopcodon in wt / mu cDNA 1367 / 1367
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 132 / 132
chromosome 17
strand -1
last intron/exon boundary 1215
theoretical NMD boundary in CDS 1033
length of CDS 1236
coding sequence (CDS) position 895
cDNA position
(for ins/del: last normal base / first normal base)		 1026
gDNA position
(for ins/del: last normal base / first normal base)		 15097
chromosomal position
(for ins/del: last normal base / first normal base)		 38062217
original gDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered gDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
original cDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered cDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
wildtype AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM SAGLDIHFRG KTKSFPEGKS
LGSEDSRNMK EKLEDMESVL KDLTEEKRKD VLNSLAKCLG KEDIRQDLEQ RVSEVLISGE
LHMEDPDKPL LSSLFNAAGV LVEARAKAIL DFLDALLELS EEQQFVAEAL EKGTLPLLKD
QVKSVMEQNW DELASSPPDM DYDPEARILC ALYVVVSILL ELAEGPTSVS S*
mutated AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM SAGLDIHFRG KTKSFPEGKS
LGSEDSRNMK EKLEDMESVL KDLTEEKRKD VLNSLAKCLG KEDIRQDLEQ RVSEVLISRE
LHMEDPDKPL LSSLFNAAGV LVEARAKAIL DFLDALLELS EEQQFVAEAL EKGTLPLLKD
QVKSVMEQNW DELASSPPDM DYDPEARILC ALYVVVSILL ELAEGPTSVS S*
speed 0.98 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

Problems