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 3.72 s - this script 4.448788 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACADMdisease_causing_automatic0.999999999998852simple_aae0G231Rsingle base exchangers121434274show file
ACADMdisease_causing_automatic0.999999999998971simple_aae0G267Rsingle base exchangers121434274show file
ACADMdisease_causing_automatic0.999999999999147simple_aae0G300Rsingle base exchangers121434274show file
ACADMdisease_causing_automatic0.999999999999147simple_aae0G271Rsingle base exchangers121434274show file
ACADMdisease_causing_automatic0.999999999999147simple_aae0G78Rsingle base exchangers121434274show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999998852 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910003)
  • known disease mutation: rs3588 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215194G>AN/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.691G>A
cDNA.744G>A
g.25159G>A
AA changes G231R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 231
frameshift no
known variant Reference ID: rs121434274
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC02626

known disease mutation: rs3588 (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 CM910003)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3630.88
6.1161
(flanking)6.1161
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 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      231KVPKENVLIGDGAGFKVAMGAFDK
mutated  not conserved    231KVPKENVLIGDRAGFKVAMGA
Ptroglodytes  all identical  ENSPTRG00000000871  267KVPRENVLIGDGAGFKVAMGAFD
Mmulatta  all identical  ENSMMUG00000007220  300KVPKENVLIGDGAGFKIAMGAFD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  267RVPKENVLIGEGAGFKIAMGAFD
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  296RIPKENVLIAEGAGFKIAMGAFD
Drerio  all identical  ENSDARG00000038900  272VIPKENVLIGEGAGFKIAMGAFD
Dmelanogaster  all identical  FBgn0035811  263RVPKENVLIGEGAGFKIAMGTFD
Celegans  all identical  T08G2.3  257RVPAENVLGAPGAGFKVAMEAFD
Xtropicalis  all identical  ENSXETG00000002983  272RVPAENVLIGEGAGFKIAMGAFD
protein features
start (aa)end (aa)featuredetails 
231233STRANDlost
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 691
cDNA position
(for ins/del: last normal base / first normal base)		 744
gDNA position
(for ins/del: last normal base / first normal base)		 25159
chromosomal position
(for ins/del: last normal base / first normal base)		 76215194
original gDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered gDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
original cDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered cDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
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 ELNMGQRCSD TRGIVFEDVK VPKENVLIGD RAGFKVAMGA
FDKTRPVVAA GAVGLAQRAL DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS
YQRAAWEVDS GRRNTYYASI AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI
YQIYEGTSQI QRLIVAREHI DKYKN*
speed 0.17 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: 0.999999999998971 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910003)
  • known disease mutation: rs3588 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215194G>AN/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.799G>A
cDNA.1236G>A
g.25159G>A
AA changes G267R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 267
frameshift no
known variant Reference ID: rs121434274
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC02626

known disease mutation: rs3588 (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 CM910003)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3630.88
6.1161
(flanking)6.1161
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 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      267KVPKENVLIGDGAGFKVAMGAFDK
mutated  not conserved    267KVPKENVLIGDRAGFKVAMGAFD
Ptroglodytes  all identical  ENSPTRG00000000871  267KVPRENVLIGDGAGFKVAMGAFD
Mmulatta  all identical  ENSMMUG00000007220  300KVPKENVLIGDGAGFKIAMGAFD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  267RVPKENVLIGEGAGFKIAMGAFD
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  296RIPKENVLIAEGAGFKIAMGAFD
Drerio  all identical  ENSDARG00000038900  272VIPKENVLIGEGAGFKIAMG
Dmelanogaster  all identical  FBgn0035811  263RVPKENVLIGEGAGFKIAMGTFD
Celegans  all identical  T08G2.3  257RVPAENVLGAPGAGFKVAMEAF
Xtropicalis  all identical  ENSXETG00000002983  272RVPAENVLIGEGAGFKIAMGAFD
protein features
start (aa)end (aa)featuredetails 
266268TURNlost
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 799
cDNA position
(for ins/del: last normal base / first normal base)		 1236
gDNA position
(for ins/del: last normal base / first normal base)		 25159
chromosomal position
(for ins/del: last normal base / first normal base)		 76215194
original gDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered gDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
original cDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered cDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
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
GQRCSDTRGI VFEDVKVPKE NVLIGDRAGF KVAMGAFDKT RPVVAAGAVG LAQRALDEAT
KYALERKTFG KLLVEHQAIS FMLAEMAMKV ELARMSYQRA AWEVDSGRRN TYYASIAKAF
AGDIANQLAT DAVQILGGNG FNTEYPVEKL MRDAKIYQIY EGTSQIQRLI VAREHIDKYK
N*
speed 0.27 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: 0.999999999999147 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910003)
  • known disease mutation: rs3588 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215194G>AN/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.898G>A
cDNA.977G>A
g.25159G>A
AA changes G300R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 300
frameshift no
known variant Reference ID: rs121434274
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC02626

known disease mutation: rs3588 (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 CM910003)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3630.88
6.1161
(flanking)6.1161
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 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      300KVPKENVLIGDGAGFKVAMGAFDK
mutated  not conserved    300KVPKENVLIGDRAGFKVAMGAFD
Ptroglodytes  all identical  ENSPTRG00000000871  267KVPRENVLIGDGAGFKVAMGAFD
Mmulatta  all identical  ENSMMUG00000007220  300KVPKENVLIGDGAGFKIAMGAFD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  267RVPKENVLIGEGAGFKIAMGAFD
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  296RIPKENVLIAEGAGFKIAM
Drerio  all identical  ENSDARG00000038900  272VIPKENVLIGEGAGFKIAMGAFD
Dmelanogaster  all identical  FBgn0035811  263RVPKENVLIGEGAGFKIAMGT
Celegans  all identical  T08G2.3  257RVPAENVLGAPGAGFKVAMEAFD
Xtropicalis  all identical  ENSXETG00000002983  272RVPAENVLIGEGAGFK
protein features
start (aa)end (aa)featuredetails 
269303HELIXlost
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 898
cDNA position
(for ins/del: last normal base / first normal base)		 977
gDNA position
(for ins/del: last normal base / first normal base)		 25159
chromosomal position
(for ins/del: last normal base / first normal base)		 76215194
original gDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered gDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
original cDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered cDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
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 LNMGQRCSDT RGIVFEDVKV PKENVLIGDR
AGFKVAMGAF DKTRPVVAAG AVGLAQRALD EATKYALERK TFGKLLVEHQ AISFMLAEMA
MKVELARMSY QRAAWEVDSG RRNTYYASIA KAFAGDIANQ LATDAVQILG GNGFNTEYPV
EKLMRDAKIY QIYEGTSQIQ RLIVAREHID KYKN*
speed 1.09 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: 0.999999999999147 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910003)
  • known disease mutation: rs3588 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215194G>AN/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.811G>A
cDNA.819G>A
g.25159G>A
AA changes G271R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs121434274
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC02626

known disease mutation: rs3588 (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 CM910003)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3630.88
6.1161
(flanking)6.1161
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 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271KVPKENVLIGDGAGFKVAMGAFDK
mutated  not conserved    271KVPKENVLIGDRAGFKVAMGAFD
Ptroglodytes  all identical  ENSPTRG00000000871  267KVPRENVLIGDGAGFKVAMGAFD
Mmulatta  all identical  ENSMMUG00000007220  300IGDGAGFKIAMGAFD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  267RVPKENVLIGEGAGFKIAMGAFD
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  296RIPKENVLIAEGAGFKIAMGAFD
Drerio  all identical  ENSDARG00000038900  272VIPKENVLIGEGAGFKIAMG
Dmelanogaster  all identical  FBgn0035811  263RVPKENVLIGEGAGFKIAMGTFD
Celegans  all identical  T08G2.3  257RVPAENVLGAPGAGFKVAMEAF
Xtropicalis  all identical  ENSXETG00000002983  272RVPAENVLIGEGAGFKIAMGAFD
protein features
start (aa)end (aa)featuredetails 
269303HELIXlost
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 811
cDNA position
(for ins/del: last normal base / first normal base)		 819
gDNA position
(for ins/del: last normal base / first normal base)		 25159
chromosomal position
(for ins/del: last normal base / first normal base)		 76215194
original gDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered gDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
original cDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered cDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
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
ELNMGQRCSD TRGIVFEDVK VPKENVLIGD RAGFKVAMGA FDKTRPVVAA GAVGLAQRAL
DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS YQRAAWEVDS GRRNTYYASI
AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI YQIYEGTSQI QRLIVAREHI
DKYKN*
speed 1.16 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: 0.999999999999147 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910003)
  • known disease mutation: rs3588 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76215194G>AN/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.232G>A
cDNA.550G>A
g.25159G>A
AA changes G78R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 78
frameshift no
known variant Reference ID: rs121434274
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC02626

known disease mutation: rs3588 (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 CM910003)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910003)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3630.88
6.1161
(flanking)6.1161
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 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      78KVPKENVLIGDGAGFKVAMGAFDK
mutated  not conserved    78KVPKENVLIGDRAGFKVAMGAFD
Ptroglodytes  all identical  ENSPTRG00000000871  267KVPRENVLIGDGAGFKVAMGAFD
Mmulatta  all identical  ENSMMUG00000007220  300KVPKENVLIGDGAGFKIAMGAFD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  267RVPKENVLIGEGAGFKIAMGAFD
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  296RIPKENVLIAEGAGFKIAMGAFD
Drerio  all identical  ENSDARG00000038900  272VIPKENVLIGEGAGFKIAMGAFD
Dmelanogaster  all identical  FBgn0035811  263RVPKENVLIGEGAGFKIAMGTFD
Celegans  all identical  T08G2.3  257RVPAENVLGAPGAGFKVAMEAFD
Xtropicalis  all identical  ENSXETG00000002983  272RVPAENVLIGEGAGFKIAMGAFD
protein features
start (aa)end (aa)featuredetails 
7584HELIXlost
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 232
cDNA position
(for ins/del: last normal base / first normal base)		 550
gDNA position
(for ins/del: last normal base / first normal base)		 25159
chromosomal position
(for ins/del: last normal base / first normal base)		 76215194
original gDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered gDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
original cDNA sequence snippet AAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCA
altered cDNA sequence snippet AAAATGTTTTAATTGGTGACAGAGCTGGTTTCAAAGTTGCA
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 MGQRCSDTRG
IVFEDVKVPK ENVLIGDRAG FKVAMGAFDK TRPVVAAGAV GLAQRALDEA TKYALERKTF
GKLLVEHQAI SFMLAEMAMK VELARMSYQR AAWEVDSGRR NTYYASIAKA FAGDIANQLA
TDAVQILGGN GFNTEYPVEK LMRDAKIYQI YEGTSQIQRL IVAREHIDKY KN*
speed 1.03 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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