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: ENST00000281182
Querying Taster for transcript #2: ENST00000374752
Querying Taster for transcript #3: ENST00000543332
Querying Taster for transcript #4: ENST00000537423
MT speed 0 s - this script 4.834801 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACAD8disease_causing_automatic0.999999938916336simple_aaeaffected0M152Tsingle base exchangers121908418show file
ACAD8disease_causing_automatic0.999999989977251simple_aaeaffected0M54Tsingle base exchangers121908418show file
ACAD8disease_causing_automatic0.999999989977251simple_aaeaffected0M75Tsingle base exchangers121908418show file
ACAD8disease_causing_automatic1without_aaeaffected0single base exchangers121908418show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999938916336 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM063821)
  • known disease mutation: rs5355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:134128483T>CN/A show variant in all transcripts   IGV
HGNC symbol ACAD8
Ensembl transcript ID ENST00000281182
Genbank transcript ID NM_014384
UniProt peptide Q9UKU7
alteration type single base exchange
alteration region CDS
DNA changes c.455T>C
cDNA.561T>C
g.5095T>C
AA changes M152T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 152
frameshift no
known variant Reference ID: rs121908418
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099

known disease mutation: rs5355 (pathogenic for Deficiency of isobutyryl-CoA dehydrogenase) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0491
5.0491
(flanking)6.1151
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5087wt: 0.32 / mu: 0.47wt: CACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGC
mu: CACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGC		 gctc|TGTA
Acc increased5090wt: 0.41 / mu: 0.47wt: AAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTC
mu: AAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTC		 ctgt|ACCA
Acc marginally increased5088wt: 0.4865 / mu: 0.5123 (marginal change - not scored)wt: ACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCT
mu: ACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCT		 ctct|GTAC
Donor marginally increased5096wt: 0.9969 / mu: 0.9982 (marginal change - not scored)wt: ACCATGGAGAAGTTT
mu: ACCACGGAGAAGTTT		 CATG|gaga
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      152QRHKFCPPLCTMEKFASYCLTEPG
mutated  not conserved    152QRHKFCPPLCTTEKFASYCLTEP
Ptroglodytes  all identical  ENSPTRG00000004496  152QRHKFCPPLCTMEKFASYCLTEP
Mmulatta  all identical  ENSMMUG00000007107  152QRHKFCPPLCTMEKFASYCLTEP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031969  150QRHKFCPPLCTMEKFASYCLTEP
Ggallus  all identical  ENSGALG00000001557  149LCSMEKFASYCLTEP
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042658  154LCSMQKFASYCLTEP
Dmelanogaster  no homologue    
Celegans  not conserved  F28A10.6  138LKEDLLPDMAVFKKLGSYCLTEP
Xtropicalis  all identical  ENSXETG00000008327  151LCSMDKFASYCLTEP
protein features
start (aa)end (aa)featuredetails 
139150HELIXmight get lost (downstream of altered splice site)
156159STRANDmight get lost (downstream of altered splice site)
158167NP_BINDFAD.might get lost (downstream of altered splice site)
165168STRANDmight get lost (downstream of altered splice site)
167167BINDINGSubstrate; via carbonyl oxygen.might get lost (downstream of altered splice site)
169171HELIXmight get lost (downstream of altered splice site)
175179STRANDmight get lost (downstream of altered splice site)
182193STRANDmight get lost (downstream of altered splice site)
191193NP_BINDFAD.might get lost (downstream of altered splice site)
194197TURNmight get lost (downstream of altered splice site)
199211STRANDmight get lost (downstream of altered splice site)
210210CONFLICTP -> L (in Ref. 4; AAH01964).might get lost (downstream of altered splice site)
212214HELIXmight get lost (downstream of altered splice site)
215221STRANDmight get lost (downstream of altered splice site)
227229STRANDmight get lost (downstream of altered splice site)
235237STRANDmight get lost (downstream of altered splice site)
243254STRANDmight get lost (downstream of altered splice site)
255257HELIXmight get lost (downstream of altered splice site)
258261STRANDmight get lost (downstream of altered splice site)
265301HELIXmight get lost (downstream of altered splice site)
274277REGIONSubstrate binding.might get lost (downstream of altered splice site)
302302BINDINGFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
309311HELIXmight get lost (downstream of altered splice site)
312313NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
313341HELIXmight get lost (downstream of altered splice site)
347372HELIXmight get lost (downstream of altered splice site)
371375NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
373378HELIXmight get lost (downstream of altered splice site)
384393HELIXmight get lost (downstream of altered splice site)
394396TURNmight get lost (downstream of altered splice site)
397399STRANDmight get lost (downstream of altered splice site)
398398ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
399399BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
400402NP_BINDFAD.might get lost (downstream of altered splice site)
401414HELIXmight get lost (downstream of altered splice site)
410410BINDINGSubstrate.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1248 / 1248
position (AA) of stopcodon in wt / mu AA sequence 416 / 416
position of stopcodon in wt / mu cDNA 1354 / 1354
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 107 / 107
chromosome 11
strand 1
last intron/exon boundary 1302
theoretical NMD boundary in CDS 1145
length of CDS 1248
coding sequence (CDS) position 455
cDNA position
(for ins/del: last normal base / first normal base)		 561
gDNA position
(for ins/del: last normal base / first normal base)		 5095
chromosomal position
(for ins/del: last normal base / first normal base)		 134128483
original gDNA sequence snippet TTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACT
altered gDNA sequence snippet TTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTCCTACT
original cDNA sequence snippet TTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACT
altered cDNA sequence snippet TTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTCCTACT
wildtype AA sequence MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDPSMG LNEEQKEFQK VAFDFAAREM
APNMAEWDQK ELFPVDVMRK AAQLGFGGVY IQTDVGGSGL SRLDTSVIFE ALATGCTSTT
AYISIHNMCA WMIDSFGNEE QRHKFCPPLC TMEKFASYCL TEPGSGSDAA SLLTSAKKQG
DHYILNGSKA FISGAGESDI YVVMCRTGGP GPKGISCIVV EKGTPGLSFG KKEKKVGWNS
QPTRAVIFED CAVPVANRIG SEGQGFLIAV RGLNGGRINI ASCSLGAAHA SVILTRDHLN
VRKQFGEPLA SNQYLQFTLA DMATRLVAAR LMVRNAAVAL QEERKDAVAL CSMAKLFATD
ECFAICNQAL QMHGGYGYLK DYAVQQYVRD SRVHQILEGS NEVMRILISR SLLQE*
mutated AA sequence MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDPSMG LNEEQKEFQK VAFDFAAREM
APNMAEWDQK ELFPVDVMRK AAQLGFGGVY IQTDVGGSGL SRLDTSVIFE ALATGCTSTT
AYISIHNMCA WMIDSFGNEE QRHKFCPPLC TTEKFASYCL TEPGSGSDAA SLLTSAKKQG
DHYILNGSKA FISGAGESDI YVVMCRTGGP GPKGISCIVV EKGTPGLSFG KKEKKVGWNS
QPTRAVIFED CAVPVANRIG SEGQGFLIAV RGLNGGRINI ASCSLGAAHA SVILTRDHLN
VRKQFGEPLA SNQYLQFTLA DMATRLVAAR LMVRNAAVAL QEERKDAVAL CSMAKLFATD
ECFAICNQAL QMHGGYGYLK DYAVQQYVRD SRVHQILEGS NEVMRILISR SLLQE*
speed 1.20 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: 0.999999989977251 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM063821)
  • known disease mutation: rs5355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:134128483T>CN/A show variant in all transcripts   IGV
HGNC symbol ACAD8
Ensembl transcript ID ENST00000543332
Genbank transcript ID N/A
UniProt peptide Q9UKU7
alteration type single base exchange
alteration region CDS
DNA changes c.161T>C
cDNA.328T>C
g.5095T>C
AA changes M54T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 54
frameshift no
known variant Reference ID: rs121908418
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099

known disease mutation: rs5355 (pathogenic for Deficiency of isobutyryl-CoA dehydrogenase) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0491
5.0491
(flanking)6.1151
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5087wt: 0.32 / mu: 0.47wt: CACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGC
mu: CACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGC		 gctc|TGTA
Acc increased5090wt: 0.41 / mu: 0.47wt: AAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTC
mu: AAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTC		 ctgt|ACCA
Acc marginally increased5088wt: 0.4865 / mu: 0.5123 (marginal change - not scored)wt: ACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCT
mu: ACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCT		 ctct|GTAC
Donor marginally increased5096wt: 0.9969 / mu: 0.9982 (marginal change - not scored)wt: ACCATGGAGAAGTTT
mu: ACCACGGAGAAGTTT		 CATG|gaga
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      54QRHKFCPPLCTMEKFASYCLTEPG
mutated  not conserved    54QRHKFCPPLCTTEKFASY
Ptroglodytes  all identical  ENSPTRG00000004496  152QRHKFCPPLCTMEKFASYCLTEP
Mmulatta  all identical  ENSMMUG00000007107  152QRHKFCPPLCTMEKFASYCLTEP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031969  150QRHKFCPPLCTMEKFASYCLTEP
Ggallus  all identical  ENSGALG00000001557  149QRHRFCPSLCSMEKFASYCLTEP
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042658  154QRERFCPDLCSMQKFASYCLTEP
Dmelanogaster  no homologue    
Celegans  not conserved  F28A10.6  138LKEDLLPDMAVFKKLGSYCLTEP
Xtropicalis  all identical  ENSXETG00000008327  151QRHQFCPSLCSMDKFASYCLTEP
protein features
start (aa)end (aa)featuredetails 
4359HELIXlost
6063TURNmight get lost (downstream of altered splice site)
6470HELIXmight get lost (downstream of altered splice site)
7583HELIXmight get lost (downstream of altered splice site)
9395HELIXmight get lost (downstream of altered splice site)
102113HELIXmight get lost (downstream of altered splice site)
117136HELIXmight get lost (downstream of altered splice site)
139150HELIXmight get lost (downstream of altered splice site)
156159STRANDmight get lost (downstream of altered splice site)
158167NP_BINDFAD.might get lost (downstream of altered splice site)
165168STRANDmight get lost (downstream of altered splice site)
167167BINDINGSubstrate; via carbonyl oxygen.might get lost (downstream of altered splice site)
169171HELIXmight get lost (downstream of altered splice site)
175179STRANDmight get lost (downstream of altered splice site)
182193STRANDmight get lost (downstream of altered splice site)
191193NP_BINDFAD.might get lost (downstream of altered splice site)
194197TURNmight get lost (downstream of altered splice site)
199211STRANDmight get lost (downstream of altered splice site)
210210CONFLICTP -> L (in Ref. 4; AAH01964).might get lost (downstream of altered splice site)
212214HELIXmight get lost (downstream of altered splice site)
215221STRANDmight get lost (downstream of altered splice site)
227229STRANDmight get lost (downstream of altered splice site)
235237STRANDmight get lost (downstream of altered splice site)
243254STRANDmight get lost (downstream of altered splice site)
255257HELIXmight get lost (downstream of altered splice site)
258261STRANDmight get lost (downstream of altered splice site)
265301HELIXmight get lost (downstream of altered splice site)
274277REGIONSubstrate binding.might get lost (downstream of altered splice site)
302302BINDINGFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
309311HELIXmight get lost (downstream of altered splice site)
312313NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
313341HELIXmight get lost (downstream of altered splice site)
347372HELIXmight get lost (downstream of altered splice site)
371375NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
373378HELIXmight get lost (downstream of altered splice site)
384393HELIXmight get lost (downstream of altered splice site)
394396TURNmight get lost (downstream of altered splice site)
397399STRANDmight get lost (downstream of altered splice site)
398398ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
399399BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
400402NP_BINDFAD.might get lost (downstream of altered splice site)
401414HELIXmight get lost (downstream of altered splice site)
410410BINDINGSubstrate.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 681 / 681
position (AA) of stopcodon in wt / mu AA sequence 227 / 227
position of stopcodon in wt / mu cDNA 848 / 848
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 168 / 168
chromosome 11
strand 1
last intron/exon boundary 1097
theoretical NMD boundary in CDS 879
length of CDS 681
coding sequence (CDS) position 161
cDNA position
(for ins/del: last normal base / first normal base)		 328
gDNA position
(for ins/del: last normal base / first normal base)		 5095
chromosomal position
(for ins/del: last normal base / first normal base)		 134128483
original gDNA sequence snippet TTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACT
altered gDNA sequence snippet TTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTCCTACT
original cDNA sequence snippet TTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACT
altered cDNA sequence snippet TTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTCCTACT
wildtype AA sequence MKSRKNFKKW PLTLLPERWL QIWQSGTRSM CAWMIDSFGN EEQRHKFCPP LCTMEKFASY
CLTEPGSGSD AASLLTSAKK QGDHYILNGS KAFISGAGES DIYVVMCRTG GPGPKGISCI
VVEKGTPGLS FGKKEKKVGW NSQPTRAVIF EDCAVPVANR IGSEGQGFLI AVRGLNGGRI
NIASCSLGAA HASVILTRDH LNVRKQFGEP LASNQKKQET LKLWIT*
mutated AA sequence MKSRKNFKKW PLTLLPERWL QIWQSGTRSM CAWMIDSFGN EEQRHKFCPP LCTTEKFASY
CLTEPGSGSD AASLLTSAKK QGDHYILNGS KAFISGAGES DIYVVMCRTG GPGPKGISCI
VVEKGTPGLS FGKKEKKVGW NSQPTRAVIF EDCAVPVANR IGSEGQGFLI AVRGLNGGRI
NIASCSLGAA HASVILTRDH LNVRKQFGEP LASNQKKQET LKLWIT*
speed 0.40 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: 0.999999989977251 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM063821)
  • known disease mutation: rs5355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:134128483T>CN/A show variant in all transcripts   IGV
HGNC symbol ACAD8
Ensembl transcript ID ENST00000537423
Genbank transcript ID N/A
UniProt peptide Q9UKU7
alteration type single base exchange
alteration region CDS
DNA changes c.224T>C
cDNA.407T>C
g.5095T>C
AA changes M75T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 75
frameshift no
known variant Reference ID: rs121908418
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099

known disease mutation: rs5355 (pathogenic for Deficiency of isobutyryl-CoA dehydrogenase) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0491
5.0491
(flanking)6.1151
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5087wt: 0.32 / mu: 0.47wt: CACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGC
mu: CACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGC		 gctc|TGTA
Acc increased5090wt: 0.41 / mu: 0.47wt: AAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTC
mu: AAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTC		 ctgt|ACCA
Acc marginally increased5088wt: 0.4865 / mu: 0.5123 (marginal change - not scored)wt: ACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCT
mu: ACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCT		 ctct|GTAC
Donor marginally increased5096wt: 0.9969 / mu: 0.9982 (marginal change - not scored)wt: ACCATGGAGAAGTTT
mu: ACCACGGAGAAGTTT		 CATG|gaga
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      75QRHKFCPPLCTMEKFASYCLTEPG
mutated  not conserved    75QRHKFCPPLCTTEKFASYCLTEP
Ptroglodytes  all identical  ENSPTRG00000004496  152QRHKFCPPLCTMEKFASYCLTEP
Mmulatta  all identical  ENSMMUG00000007107  152QRHKFCPPLCTMEKFASYCLTEP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031969  150QRHKFCPPLCTMEKFASYCLTEP
Ggallus  all identical  ENSGALG00000001557  149QRHRFCPSLCSMEKFASYCLTEP
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042658  154QRERFCPDLCSMQKFASYCLTEP
Dmelanogaster  no homologue    
Celegans  not conserved  F28A10.6  138LKEDLLPDMAVFKKLGSYCLTEP
Xtropicalis  all identical  ENSXETG00000008327  151QRHQFCPSLCSMDKFASYCLTEP
protein features
start (aa)end (aa)featuredetails 
7583HELIXlost
9395HELIXmight get lost (downstream of altered splice site)
102113HELIXmight get lost (downstream of altered splice site)
117136HELIXmight get lost (downstream of altered splice site)
139150HELIXmight get lost (downstream of altered splice site)
156159STRANDmight get lost (downstream of altered splice site)
158167NP_BINDFAD.might get lost (downstream of altered splice site)
165168STRANDmight get lost (downstream of altered splice site)
167167BINDINGSubstrate; via carbonyl oxygen.might get lost (downstream of altered splice site)
169171HELIXmight get lost (downstream of altered splice site)
175179STRANDmight get lost (downstream of altered splice site)
182193STRANDmight get lost (downstream of altered splice site)
191193NP_BINDFAD.might get lost (downstream of altered splice site)
194197TURNmight get lost (downstream of altered splice site)
199211STRANDmight get lost (downstream of altered splice site)
210210CONFLICTP -> L (in Ref. 4; AAH01964).might get lost (downstream of altered splice site)
212214HELIXmight get lost (downstream of altered splice site)
215221STRANDmight get lost (downstream of altered splice site)
227229STRANDmight get lost (downstream of altered splice site)
235237STRANDmight get lost (downstream of altered splice site)
243254STRANDmight get lost (downstream of altered splice site)
255257HELIXmight get lost (downstream of altered splice site)
258261STRANDmight get lost (downstream of altered splice site)
265301HELIXmight get lost (downstream of altered splice site)
274277REGIONSubstrate binding.might get lost (downstream of altered splice site)
302302BINDINGFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
309311HELIXmight get lost (downstream of altered splice site)
312313NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
313341HELIXmight get lost (downstream of altered splice site)
347372HELIXmight get lost (downstream of altered splice site)
371375NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
373378HELIXmight get lost (downstream of altered splice site)
384393HELIXmight get lost (downstream of altered splice site)
394396TURNmight get lost (downstream of altered splice site)
397399STRANDmight get lost (downstream of altered splice site)
398398ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
399399BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
400402NP_BINDFAD.might get lost (downstream of altered splice site)
401414HELIXmight get lost (downstream of altered splice site)
410410BINDINGSubstrate.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1074 / 1074
position (AA) of stopcodon in wt / mu AA sequence 358 / 358
position of stopcodon in wt / mu cDNA 1257 / 1257
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 184 / 184
chromosome 11
strand 1
last intron/exon boundary 1148
theoretical NMD boundary in CDS 914
length of CDS 1074
coding sequence (CDS) position 224
cDNA position
(for ins/del: last normal base / first normal base)		 407
gDNA position
(for ins/del: last normal base / first normal base)		 5095
chromosomal position
(for ins/del: last normal base / first normal base)		 134128483
original gDNA sequence snippet TTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACT
altered gDNA sequence snippet TTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTCCTACT
original cDNA sequence snippet TTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACT
altered cDNA sequence snippet TTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTCCTACT
wildtype AA sequence MRKAAQLGFG GVYIQTDVGG SGLSRLDTSV IFEALATGCT STTAYISIHN MCAWMIDSFG
NEEQRHKFCP PLCTMEKFAS YCLTEPGSGS DAASLLTSAK KQGDHYILNG SKAFISGAGE
SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI FEDCAVPVAN
RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVRKQFGE PLASNQYLQF
TLADMATRLV AARLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN QALQMHGGYG
YLKDYAVQQY VRDSRVHQIL EELFWQGPGV QSRSFVPFGG PQIALLLPFS SGDLREG*
mutated AA sequence MRKAAQLGFG GVYIQTDVGG SGLSRLDTSV IFEALATGCT STTAYISIHN MCAWMIDSFG
NEEQRHKFCP PLCTTEKFAS YCLTEPGSGS DAASLLTSAK KQGDHYILNG SKAFISGAGE
SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI FEDCAVPVAN
RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVRKQFGE PLASNQYLQF
TLADMATRLV AARLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN QALQMHGGYG
YLKDYAVQQY VRDSRVHQIL EELFWQGPGV QSRSFVPFGG PQIALLLPFS SGDLREG*
speed 1.18 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM063821)
  • known disease mutation: rs5355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:134128483T>CN/A show variant in all transcripts   IGV
HGNC symbol ACAD8
Ensembl transcript ID ENST00000374752
Genbank transcript ID N/A
UniProt peptide Q9UKU7
alteration type single base exchange
alteration region intron
DNA changes g.5095T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121908418
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099

known disease mutation: rs5355 (pathogenic for Deficiency of isobutyryl-CoA dehydrogenase) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0491
5.0491
(flanking)6.1151
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5087wt: 0.32 / mu: 0.47wt: CACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGC
mu: CACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGC		 gctc|TGTA
Acc increased5090wt: 0.41 / mu: 0.47wt: AAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTC
mu: AAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTC		 ctgt|ACCA
Acc marginally increased5088wt: 0.4865 / mu: 0.5123 (marginal change - not scored)wt: ACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCT
mu: ACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCT		 ctct|GTAC
Donor marginally increased5096wt: 0.9969 / mu: 0.9982 (marginal change - not scored)wt: ACCATGGAGAAGTTT
mu: ACCACGGAGAAGTTT		 CATG|gaga
distance from splice site 419
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
3740TURNmight get lost (downstream of altered splice site)
4359HELIXmight get lost (downstream of altered splice site)
6063TURNmight get lost (downstream of altered splice site)
6470HELIXmight get lost (downstream of altered splice site)
7583HELIXmight get lost (downstream of altered splice site)
9395HELIXmight get lost (downstream of altered splice site)
102113HELIXmight get lost (downstream of altered splice site)
117136HELIXmight get lost (downstream of altered splice site)
139150HELIXmight get lost (downstream of altered splice site)
156159STRANDmight get lost (downstream of altered splice site)
158167NP_BINDFAD.might get lost (downstream of altered splice site)
165168STRANDmight get lost (downstream of altered splice site)
167167BINDINGSubstrate; via carbonyl oxygen.might get lost (downstream of altered splice site)
169171HELIXmight get lost (downstream of altered splice site)
175179STRANDmight get lost (downstream of altered splice site)
182193STRANDmight get lost (downstream of altered splice site)
191193NP_BINDFAD.might get lost (downstream of altered splice site)
194197TURNmight get lost (downstream of altered splice site)
199211STRANDmight get lost (downstream of altered splice site)
210210CONFLICTP -> L (in Ref. 4; AAH01964).might get lost (downstream of altered splice site)
212214HELIXmight get lost (downstream of altered splice site)
215221STRANDmight get lost (downstream of altered splice site)
227229STRANDmight get lost (downstream of altered splice site)
235237STRANDmight get lost (downstream of altered splice site)
243254STRANDmight get lost (downstream of altered splice site)
255257HELIXmight get lost (downstream of altered splice site)
258261STRANDmight get lost (downstream of altered splice site)
265301HELIXmight get lost (downstream of altered splice site)
274277REGIONSubstrate binding.might get lost (downstream of altered splice site)
302302BINDINGFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
309311HELIXmight get lost (downstream of altered splice site)
312313NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
313341HELIXmight get lost (downstream of altered splice site)
347372HELIXmight get lost (downstream of altered splice site)
371375NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
373378HELIXmight get lost (downstream of altered splice site)
384393HELIXmight get lost (downstream of altered splice site)
394396TURNmight get lost (downstream of altered splice site)
397399STRANDmight get lost (downstream of altered splice site)
398398ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
399399BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
400402NP_BINDFAD.might get lost (downstream of altered splice site)
401414HELIXmight get lost (downstream of altered splice site)
410410BINDINGSubstrate.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 41 / 41
chromosome 11
strand 1
last intron/exon boundary 855
theoretical NMD boundary in CDS 764
length of CDS 867
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 5095
chromosomal position
(for ins/del: last normal base / first normal base)		 134128483
original gDNA sequence snippet TTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACT
altered gDNA sequence snippet TTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTCCTACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDRSGS DAASLLTSAK KQGDHYILNG
SKAFISGAGE SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI
FEDCAVPVAN RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVRKQFGE
PLASNQYLQF TLADMATRLV AARLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN
QALQMHGGYG YLKDYAVQQY VRDSRVHQIL EGSNEVMRIL ISRSLLQE*
mutated AA sequence N/A
speed 0.37 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