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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000370841
Querying Taster for transcript #2: ENST00000370834
Querying Taster for transcript #3: ENST00000420607
Querying Taster for transcript #4: ENST00000541113
Querying Taster for transcript #5: ENST00000543667
MT speed 0 s - this script 5.167122 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACADMdisease_causing_automatic0.999999999969338simple_aae0S245Lsingle base exchangers121434281show file
ACADMdisease_causing_automatic0.999999999969338simple_aae0S209Lsingle base exchangers121434281show file
ACADMdisease_causing_automatic0.99999999999323simple_aae0S249Lsingle base exchangers121434281show file
ACADMdisease_causing_automatic0.999999999994969simple_aae0S56Lsingle base exchangers121434281show file
ACADMdisease_causing_automatic0.999999999996136simple_aae0S278Lsingle base exchangers121434281show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999969338 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011749)
  • known disease mutation: rs3598 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215129C>TN/A show variant in all transcripts   IGV
HGNC symbol ACADM
Ensembl transcript ID ENST00000370841
Genbank transcript ID NM_000016
UniProt peptide P11310
alteration type single base exchange
alteration region CDS
DNA changes c.734C>T
cDNA.1171C>T
g.25094C>T
AA changes S245L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 245
frameshift no
known variant Reference ID: rs121434281
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs3598 (pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1021
6.181
(flanking)-0.1160.987
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 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      245GRKELNMGQRCSDTRGIVFEDVKV
mutated  not conserved    245GQRCLDTRGIVFEDVK
Ptroglodytes  all identical  ENSPTRG00000000871  245GQRCSDTRGIVFEDVK
Mmulatta  all identical  ENSMMUG00000007220  278GRKELNMGQRCSDTRGIVFEDVK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  245GQRCSDTRGIAFEDVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  274GRKELNMGQRCSDTRGITFEDVR
Drerio  all identical  ENSDARG00000038900  250GRKELNMGQRCSDTRGITFEDVV
Dmelanogaster  all identical  FBgn0035811  241GRKELNMGQRASDTRG
Celegans  all identical  T08G2.3  235GKKEKNMGQRCSDTRVITFEDVR
Xtropicalis  all identical  ENSXETG00000002983  250SDTRGIVFEDVR
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1266 / 1266
position (AA) of stopcodon in wt / mu AA sequence 422 / 422
position of stopcodon in wt / mu cDNA 1703 / 1703
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 438 / 438
chromosome 1
strand 1
last intron/exon boundary 1632
theoretical NMD boundary in CDS 1144
length of CDS 1266
coding sequence (CDS) position 734
cDNA position
(for ins/del: last normal base / first normal base)		 1171
gDNA position
(for ins/del: last normal base / first normal base)		 25094
chromosomal position
(for ins/del: last normal base / first normal base)		 76215129
original gDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered gDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
original cDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered cDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
wildtype AA sequence MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCGGLGL GTFDACLISE ELAYGCTGVQ
TAIEGNSLGQ MPIIIAGNDQ QKKKYLGRMT EEPLMCAYCV TEPGAGSDVA GIKTKAEKKG
DEYIINGQKM WITNGGKANW YFLLARSDPD PKAPANKAFT GFIVEADTPG IQIGRKELNM
GQRCSDTRGI VFEDVKVPKE NVLIGDGAGF KVAMGAFDKT RPVVAAGAVG LAQRALDEAT
KYALERKTFG KLLVEHQAIS FMLAEMAMKV ELARMSYQRA AWEVDSGRRN TYYASIAKAF
AGDIANQLAT DAVQILGGNG FNTEYPVEKL MRDAKIYQIY EGTSQIQRLI VAREHIDKYK
N*
mutated AA sequence MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCGGLGL GTFDACLISE ELAYGCTGVQ
TAIEGNSLGQ MPIIIAGNDQ QKKKYLGRMT EEPLMCAYCV TEPGAGSDVA GIKTKAEKKG
DEYIINGQKM WITNGGKANW YFLLARSDPD PKAPANKAFT GFIVEADTPG IQIGRKELNM
GQRCLDTRGI VFEDVKVPKE NVLIGDGAGF KVAMGAFDKT RPVVAAGAVG LAQRALDEAT
KYALERKTFG KLLVEHQAIS FMLAEMAMKV ELARMSYQRA AWEVDSGRRN TYYASIAKAF
AGDIANQLAT DAVQILGGNG FNTEYPVEKL MRDAKIYQIY EGTSQIQRLI VAREHIDKYK
N*
speed 0.47 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: 0.999999999969338 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011749)
  • known disease mutation: rs3598 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215129C>TN/A show variant in all transcripts   IGV
HGNC symbol ACADM
Ensembl transcript ID ENST00000541113
Genbank transcript ID N/A
UniProt peptide P11310
alteration type single base exchange
alteration region CDS
DNA changes c.626C>T
cDNA.679C>T
g.25094C>T
AA changes S209L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 209
frameshift no
known variant Reference ID: rs121434281
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs3598 (pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1021
6.181
(flanking)-0.1160.987
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 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      209GRKELNMGQRCSDTRGIVFEDVKV
mutated  not conserved    209GRKELNMGQRCLDTRGIVFEDVK
Ptroglodytes  all identical  ENSPTRG00000000871  245GRKELNMGQRCSDTRGIVFEDVK
Mmulatta  all identical  ENSMMUG00000007220  278GRKELNMGQRCSDTRGIVFEDVK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  245GKKELNMGQRCSDTRGIAFEDVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  274GRKELNMGQRCSDTRGITF
Drerio  all identical  ENSDARG00000038900  250GRKELNMGQRCSDTRGITFEDVV
Dmelanogaster  all identical  FBgn0035811  241GRKELNMGQRASDTRGITFEDVR
Celegans  all identical  T08G2.3  235GKKEKNMGQRCSDTRVITFEDVR
Xtropicalis  all identical  ENSXETG00000002983  250GRKEMNMGQRCSDTRGIVFEDVR
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1158 / 1158
position (AA) of stopcodon in wt / mu AA sequence 386 / 386
position of stopcodon in wt / mu cDNA 1211 / 1211
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 54 / 54
chromosome 1
strand 1
last intron/exon boundary 1140
theoretical NMD boundary in CDS 1036
length of CDS 1158
coding sequence (CDS) position 626
cDNA position
(for ins/del: last normal base / first normal base)		 679
gDNA position
(for ins/del: last normal base / first normal base)		 25094
chromosomal position
(for ins/del: last normal base / first normal base)		 76215129
original gDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered gDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
original cDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered cDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
wildtype AA sequence MLQEFTEQQK EFQATARKFA REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG
GLGLGTFDAC LISEELAYGC TGVQTAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC
AYCVTEPGAG SDVAGIKTKA EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN
KAFTGFIVEA DTPGIQIGRK ELNMGQRCSD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA
FDKTRPVVAA GAVGLAQRAL DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS
YQRAAWEVDS GRRNTYYASI AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI
YQIYEGTSQI QRLIVAREHI DKYKN*
mutated AA sequence MLQEFTEQQK EFQATARKFA REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG
GLGLGTFDAC LISEELAYGC TGVQTAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC
AYCVTEPGAG SDVAGIKTKA EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN
KAFTGFIVEA DTPGIQIGRK ELNMGQRCLD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA
FDKTRPVVAA GAVGLAQRAL DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS
YQRAAWEVDS GRRNTYYASI AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI
YQIYEGTSQI QRLIVAREHI DKYKN*
speed 1.37 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999999323 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011749)
  • known disease mutation: rs3598 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215129C>TN/A show variant in all transcripts   IGV
HGNC symbol ACADM
Ensembl transcript ID ENST00000420607
Genbank transcript ID NM_001127328
UniProt peptide P11310
alteration type single base exchange
alteration region CDS
DNA changes c.746C>T
cDNA.754C>T
g.25094C>T
AA changes S249L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 249
frameshift no
known variant Reference ID: rs121434281
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs3598 (pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1021
6.181
(flanking)-0.1160.987
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 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      249GRKELNMGQRCSDTRGIVFEDVKV
mutated  not conserved    249ELNMGQRCLDTRGIVFEDVK
Ptroglodytes  all identical  ENSPTRG00000000871  245ELNMGQRCSDTRGIVFEDVK
Mmulatta  all identical  ENSMMUG00000007220  278GRKELNMGQRCSDTRGIVFEDVK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  245ELNMGQRCSDTRGIAFEDVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  274GRKELNMGQRCSDTRGITFEDVR
Drerio  all identical  ENSDARG00000038900  250GRKELNMGQRCSDTRGITFEDVV
Dmelanogaster  all identical  FBgn0035811  241GRKELNMGQRASDT
Celegans  all identical  T08G2.3  235GKKEKNMGQRCSDTRVITFEDVR
Xtropicalis  all identical  ENSXETG00000002983  250RCSDTRGIVFEDVR
protein features
start (aa)end (aa)featuredetails 
247258STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1278 / 1278
position (AA) of stopcodon in wt / mu AA sequence 426 / 426
position of stopcodon in wt / mu cDNA 1286 / 1286
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 9 / 9
chromosome 1
strand 1
last intron/exon boundary 1215
theoretical NMD boundary in CDS 1156
length of CDS 1278
coding sequence (CDS) position 746
cDNA position
(for ins/del: last normal base / first normal base)		 754
gDNA position
(for ins/del: last normal base / first normal base)		 25094
chromosomal position
(for ins/del: last normal base / first normal base)		 76215129
original gDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered gDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
original cDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered cDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
wildtype AA sequence MAAGFGRCCR CSLQVLRSIS RFHWRSQHTK ANRQREPGLG FSFEFTEQQK EFQATARKFA
REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG GLGLGTFDAC LISEELAYGC
TGVQTAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC AYCVTEPGAG SDVAGIKTKA
EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN KAFTGFIVEA DTPGIQIGRK
ELNMGQRCSD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA FDKTRPVVAA GAVGLAQRAL
DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS YQRAAWEVDS GRRNTYYASI
AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI YQIYEGTSQI QRLIVAREHI
DKYKN*
mutated AA sequence MAAGFGRCCR CSLQVLRSIS RFHWRSQHTK ANRQREPGLG FSFEFTEQQK EFQATARKFA
REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG GLGLGTFDAC LISEELAYGC
TGVQTAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC AYCVTEPGAG SDVAGIKTKA
EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN KAFTGFIVEA DTPGIQIGRK
ELNMGQRCLD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA FDKTRPVVAA GAVGLAQRAL
DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS YQRAAWEVDS GRRNTYYASI
AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI YQIYEGTSQI QRLIVAREHI
DKYKN*
speed 1.37 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999994969 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011749)
  • known disease mutation: rs3598 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215129C>TN/A show variant in all transcripts   IGV
HGNC symbol ACADM
Ensembl transcript ID ENST00000543667
Genbank transcript ID N/A
UniProt peptide P11310
alteration type single base exchange
alteration region CDS
DNA changes c.167C>T
cDNA.485C>T
g.25094C>T
AA changes S56L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 56
frameshift no
known variant Reference ID: rs121434281
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs3598 (pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1021
6.181
(flanking)-0.1160.987
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 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      56GRKELNMGQRCSDTRGIVFEDVKV
mutated  not conserved    56GRKELNMGQRCLDTRG
Ptroglodytes  all identical  ENSPTRG00000000871  245GRKELNMGQRCSDTRG
Mmulatta  all identical  ENSMMUG00000007220  278GRKELNMGQRCSDTRG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  245GKKELNMGQRCSDTRG
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  274GRKELNMGQRCSDTRG
Drerio  all identical  ENSDARG00000038900  250GRKELNMGQRCSDTRG
Dmelanogaster  all identical  FBgn0035811  241GRKELNMGQRASDTRG
Celegans  all identical  T08G2.3  235GKKEKNMGQRCSDTRVI
Xtropicalis  all identical  ENSXETG00000002983  250GRKEMNMGQRCSDTRG
protein features
start (aa)end (aa)featuredetails 
4359HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 699 / 699
position (AA) of stopcodon in wt / mu AA sequence 233 / 233
position of stopcodon in wt / mu cDNA 1017 / 1017
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 319 / 319
chromosome 1
strand 1
last intron/exon boundary 946
theoretical NMD boundary in CDS 577
length of CDS 699
coding sequence (CDS) position 167
cDNA position
(for ins/del: last normal base / first normal base)		 485
gDNA position
(for ins/del: last normal base / first normal base)		 25094
chromosomal position
(for ins/del: last normal base / first normal base)		 76215129
original gDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered gDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
original cDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered cDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
wildtype AA sequence MWITNGGKAN WYFLLARSDP DPKAPANKAF TGFIVEADTP GIQIGRKELN MGQRCSDTRG
IVFEDVKVPK ENVLIGDGAG FKVAMGAFDK TRPVVAAGAV GLAQRALDEA TKYALERKTF
GKLLVEHQAI SFMLAEMAMK VELARMSYQR AAWEVDSGRR NTYYASIAKA FAGDIANQLA
TDAVQILGGN GFNTEYPVEK LMRDAKIYQI YEGTSQIQRL IVAREHIDKY KN*
mutated AA sequence MWITNGGKAN WYFLLARSDP DPKAPANKAF TGFIVEADTP GIQIGRKELN MGQRCLDTRG
IVFEDVKVPK ENVLIGDGAG FKVAMGAFDK TRPVVAAGAV GLAQRALDEA TKYALERKTF
GKLLVEHQAI SFMLAEMAMK VELARMSYQR AAWEVDSGRR NTYYASIAKA FAGDIANQLA
TDAVQILGGN GFNTEYPVEK LMRDAKIYQI YEGTSQIQRL IVAREHIDKY KN*
speed 0.46 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: 0.999999999996136 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011749)
  • known disease mutation: rs3598 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215129C>TN/A show variant in all transcripts   IGV
HGNC symbol ACADM
Ensembl transcript ID ENST00000370834
Genbank transcript ID N/A
UniProt peptide P11310
alteration type single base exchange
alteration region CDS
DNA changes c.833C>T
cDNA.912C>T
g.25094C>T
AA changes S278L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 278
frameshift no
known variant Reference ID: rs121434281
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs3598 (pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011749)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1021
6.181
(flanking)-0.1160.987
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 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      278GRKELNMGQRCSDTRGIVFEDVKV
mutated  not conserved    278GRKELNMGQRCLDTRGIVFEDVK
Ptroglodytes  all identical  ENSPTRG00000000871  245GRKELNMGQRCSDTRGIVFEDVK
Mmulatta  all identical  ENSMMUG00000007220  278GRKELNMGQRCSDTRGIVFEDVK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  245GKKELNMGQRCSDTRGIAFEDVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  274GRKELNMGQRCSDTRGITFEDVR
Drerio  all identical  ENSDARG00000038900  250RCSDTRGITFEDVV
Dmelanogaster  all identical  FBgn0035811  241GRKELNMGQRASDTRGITFEDVR
Celegans  all identical  T08G2.3  235SDTRVITFEDVR
Xtropicalis  all identical  ENSXETG00000002983  250GRKEMNMGQRCSDTRGIVFEDVR
protein features
start (aa)end (aa)featuredetails 
269303HELIXlost
278281REGIONSubstrate binding.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1365 / 1365
position (AA) of stopcodon in wt / mu AA sequence 455 / 455
position of stopcodon in wt / mu cDNA 1444 / 1444
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 80 / 80
chromosome 1
strand 1
last intron/exon boundary 1373
theoretical NMD boundary in CDS 1243
length of CDS 1365
coding sequence (CDS) position 833
cDNA position
(for ins/del: last normal base / first normal base)		 912
gDNA position
(for ins/del: last normal base / first normal base)		 25094
chromosomal position
(for ins/del: last normal base / first normal base)		 76215129
original gDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered gDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
original cDNA sequence snippet AAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCT
altered cDNA sequence snippet AAACATGGGCCAGCGATGTTTAGATACTAGAGGAATTGTCT
wildtype AA sequence MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCDYSVC PLLEACTLYL DAFFLLLTGS
NLNLHLNLGG LGLGTFDACL ISEELAYGCT GVQTAIEGNS LGQMPIIIAG NDQQKKKYLG
RMTEEPLMCA YCVTEPGAGS DVAGIKTKAE KKGDEYIING QKMWITNGGK ANWYFLLARS
DPDPKAPANK AFTGFIVEAD TPGIQIGRKE LNMGQRCSDT RGIVFEDVKV PKENVLIGDG
AGFKVAMGAF DKTRPVVAAG AVGLAQRALD EATKYALERK TFGKLLVEHQ AISFMLAEMA
MKVELARMSY QRAAWEVDSG RRNTYYASIA KAFAGDIANQ LATDAVQILG GNGFNTEYPV
EKLMRDAKIY QIYEGTSQIQ RLIVAREHID KYKN*
mutated AA sequence MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCDYSVC PLLEACTLYL DAFFLLLTGS
NLNLHLNLGG LGLGTFDACL ISEELAYGCT GVQTAIEGNS LGQMPIIIAG NDQQKKKYLG
RMTEEPLMCA YCVTEPGAGS DVAGIKTKAE KKGDEYIING QKMWITNGGK ANWYFLLARS
DPDPKAPANK AFTGFIVEAD TPGIQIGRKE LNMGQRCLDT RGIVFEDVKV PKENVLIGDG
AGFKVAMGAF DKTRPVVAAG AVGLAQRALD EATKYALERK TFGKLLVEHQ AISFMLAEMA
MKVELARMSY QRAAWEVDSG RRNTYYASIA KAFAGDIANQ LATDAVQILG GNGFNTEYPV
EKLMRDAKIY QIYEGTSQIQ RLIVAREHID KYKN*
speed 1.44 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