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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000543245
Querying Taster for transcript #2: ENST00000356839
Querying Taster for transcript #3: ENST00000350303
MT speed 0 s - this script 3.795803 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACADVLdisease_causing_automatic0.999999839470843simple_aaeaffected0R473Hsingle base exchangers118204016show file
ACADVLdisease_causing_automatic0.999999839470843simple_aaeaffected0R450Hsingle base exchangers118204016show file
ACADVLdisease_causing_automatic0.999999839470843simple_aaeaffected0R428Hsingle base exchangers118204016show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999839470843 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM990097)
  • known disease mutation: rs1634 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7127303G>AN/A show variant in all transcripts   IGV
HGNC symbol ACADVL
Ensembl transcript ID ENST00000543245
Genbank transcript ID NM_001270447
UniProt peptide P49748
alteration type single base exchange
alteration region CDS
DNA changes c.1418G>A
cDNA.1439G>A
g.6860G>A
AA changes R473H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 473
frameshift no
known variant Reference ID: rs118204016
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC055

known disease mutation: rs1634 (pathogenic for Rhabdomyolysis|Abnormality of circulating enzyme level|Very long chain acyl-CoA dehydrogenase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990097)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990097)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990097)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5820.969
3.1530.965
(flanking)-1.8150.314
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6852wt: 0.9948 / mu: 0.9964 (marginal change - not scored)wt: CCTGGAGTAGAGCGT
mu: CCTGGAGTAGAGCAT		 TGGA|gtag
Donor gained68560.69mu: GAGTAGAGCATGTGC GTAG|agca
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      473GMGFMKEPGVERVLRDLRIFRIFE
mutated  not conserved    473GMGFMKEPGVEHVLRDLRI
Ptroglodytes  all identical  ENSPTRG00000008664  473GMGFMKEPGVERVLRDLRVFRIF
Mmulatta  all identical  ENSMMUG00000010538  471RMARTREEPGVERVLRDLRIFRIF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018574  451MGFMKEPGVERVLRDIRIFRIF
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000013710  452GFMKDSGVERVMRDLRIFRIF
Drerio  all identical  ENSDARG00000016687  455GMGFMKDAGVERVLR
Dmelanogaster  all identical  FBgn0034432  423GMGYMVDNGLERVLRDLRIFRIF
Celegans  all identical  E04F6.5  418GMGFMRETGLERVLRDLRIFRIF
Xtropicalis  all identical  ENSXETG00000031271  247MTVS--NRCICSLHCCGLI
protein features
start (aa)end (aa)featuredetails 
41482REGIONCatalytic.lost
465485HELIXlost
483516REGIONMembrane-anchoring (Probable).might get lost (downstream of altered splice site)
486488HELIXmight get lost (downstream of altered splice site)
522524TURNmight get lost (downstream of altered splice site)
527529HELIXmight get lost (downstream of altered splice site)
530554HELIXmight get lost (downstream of altered splice site)
555560HELIXmight get lost (downstream of altered splice site)
562591HELIXmight get lost (downstream of altered splice site)
596622HELIXmight get lost (downstream of altered splice site)
627644HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2037 / 2037
position (AA) of stopcodon in wt / mu AA sequence 679 / 679
position of stopcodon in wt / mu cDNA 2058 / 2058
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 22 / 22
chromosome 17
strand 1
last intron/exon boundary 1918
theoretical NMD boundary in CDS 1846
length of CDS 2037
coding sequence (CDS) position 1418
cDNA position
(for ins/del: last normal base / first normal base)		 1439
gDNA position
(for ins/del: last normal base / first normal base)		 6860
chromosomal position
(for ins/del: last normal base / first normal base)		 7127303
original gDNA sequence snippet CTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCA
altered gDNA sequence snippet CTAGGAACCTGGAGTAGAGCATGTGCTCCGAGATCTTCGCA
original cDNA sequence snippet GAAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCA
altered cDNA sequence snippet GAAGGAACCTGGAGTAGAGCATGTGCTCCGAGATCTTCGCA
wildtype AA sequence MLGGLAAAAG TRIMGKEIEA EAQRPLRQTW RPGQPPAMTA KTMSSRLTAL LGQPRPGPAR
RPYAGGAAQL ALDKSDSHPS DALTRKKPAK AESKSFAVGM FKGQLTTDQV FPYPSVLNEE
QTQFLKELVE PVSRFFEEVN DPAKNDALEM VEETTWQGLK ELGAFGLQVP SELGGVGLCN
TQYARLVEIV GMHDLGVGIT LGAHQSIGFK GILLFGTKAQ KEKYLPKLAS GETVAAFCLT
EPSSGSDAAS IRTSAVPSPC GKYYTLNGSK LWISNGGLAD IFTVFAKTPV TDPATGAVKE
KITAFVVERG FGGITHGPPE KKMGIKASNT AEVFFDGVRV PSENVLGEVG SGFKVAMHIL
NNGRFGMAAA LAGTMRGIIA KAVDHATNRT QFGEKIHNFG LIQEKLARMV MLQYVTESMA
YMVSANMDQG ATDFQIEAAI SKIFGSEAAW KVTDECIQIM GGMGFMKEPG VERVLRDLRI
FRIFEGTNDI LRLFVALQGC MDKGKELSGL GSALKNPFGN AGLLLGEAGK QLRRRAGLGS
GLSLSGLVHP ELSRSGELAV RALEQFATVV EAKLIKHKKG IVNEQFLLQR LADGAIDLYA
MVVVLSRASR SLSEGHPTAQ HEKMLCDTWC IEAAARIREG MAALQSDPWQ QELYRNFKSI
SKALVERGGV VTSNPLGF*
mutated AA sequence MLGGLAAAAG TRIMGKEIEA EAQRPLRQTW RPGQPPAMTA KTMSSRLTAL LGQPRPGPAR
RPYAGGAAQL ALDKSDSHPS DALTRKKPAK AESKSFAVGM FKGQLTTDQV FPYPSVLNEE
QTQFLKELVE PVSRFFEEVN DPAKNDALEM VEETTWQGLK ELGAFGLQVP SELGGVGLCN
TQYARLVEIV GMHDLGVGIT LGAHQSIGFK GILLFGTKAQ KEKYLPKLAS GETVAAFCLT
EPSSGSDAAS IRTSAVPSPC GKYYTLNGSK LWISNGGLAD IFTVFAKTPV TDPATGAVKE
KITAFVVERG FGGITHGPPE KKMGIKASNT AEVFFDGVRV PSENVLGEVG SGFKVAMHIL
NNGRFGMAAA LAGTMRGIIA KAVDHATNRT QFGEKIHNFG LIQEKLARMV MLQYVTESMA
YMVSANMDQG ATDFQIEAAI SKIFGSEAAW KVTDECIQIM GGMGFMKEPG VEHVLRDLRI
FRIFEGTNDI LRLFVALQGC MDKGKELSGL GSALKNPFGN AGLLLGEAGK QLRRRAGLGS
GLSLSGLVHP ELSRSGELAV RALEQFATVV EAKLIKHKKG IVNEQFLLQR LADGAIDLYA
MVVVLSRASR SLSEGHPTAQ HEKMLCDTWC IEAAARIREG MAALQSDPWQ QELYRNFKSI
SKALVERGGV VTSNPLGF*
speed 0.93 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: 0.999999839470843 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM990097)
  • known disease mutation: rs1634 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7127303G>AN/A show variant in all transcripts   IGV
HGNC symbol ACADVL
Ensembl transcript ID ENST00000356839
Genbank transcript ID NM_000018
UniProt peptide P49748
alteration type single base exchange
alteration region CDS
DNA changes c.1349G>A
cDNA.1528G>A
g.6860G>A
AA changes R450H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 450
frameshift no
known variant Reference ID: rs118204016
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC055

known disease mutation: rs1634 (pathogenic for Rhabdomyolysis|Abnormality of circulating enzyme level|Very long chain acyl-CoA dehydrogenase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990097)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990097)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990097)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5820.969
3.1530.965
(flanking)-1.8150.314
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6852wt: 0.9948 / mu: 0.9964 (marginal change - not scored)wt: CCTGGAGTAGAGCGT
mu: CCTGGAGTAGAGCAT		 TGGA|gtag
Donor gained68560.69mu: GAGTAGAGCATGTGC GTAG|agca
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      450GMGFMKEPGVERVLRDLRIFRIFE
mutated  not conserved    450GMGFMKEPGVEHVLRDLRIFRIF
Ptroglodytes  all identical  ENSPTRG00000008664  473GMGFMKEPGVERVLRDLRVFRIF
Mmulatta  all identical  ENSMMUG00000010538  470RMARTREEPGVERVLRDLRIF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018574  451GMGFMKEPGVERVLRDIRIFRIF
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000013710  452GFMKDSGVERVMRDLRIFRIF
Drerio  all identical  ENSDARG00000016687  455GMGFMKDAGVERVLR
Dmelanogaster  all identical  FBgn0034432  423GMGYMVDNGLERVLRDLRIFRIF
Celegans  all identical  E04F6.5  418GMGFMRETGLERVLRDLRIFRIF
Xtropicalis  all identical  ENSXETG00000031271  247MTVS--NRCICSLHCCGLI
protein features
start (aa)end (aa)featuredetails 
41482REGIONCatalytic.lost
448455HELIXlost
456459HELIXmight get lost (downstream of altered splice site)
461463STRANDmight get lost (downstream of altered splice site)
462462ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
462463REGIONSubstrate binding.might get lost (downstream of altered splice site)
463463BINDINGSubstrate; via amide nitrogen (By similarity).might get lost (downstream of altered splice site)
464466NP_BINDFAD.might get lost (downstream of altered splice site)
465485HELIXmight get lost (downstream of altered splice site)
483516REGIONMembrane-anchoring (Probable).might get lost (downstream of altered splice site)
486488HELIXmight get lost (downstream of altered splice site)
522524TURNmight get lost (downstream of altered splice site)
527529HELIXmight get lost (downstream of altered splice site)
530554HELIXmight get lost (downstream of altered splice site)
555560HELIXmight get lost (downstream of altered splice site)
562591HELIXmight get lost (downstream of altered splice site)
596622HELIXmight get lost (downstream of altered splice site)
627644HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1968 / 1968
position (AA) of stopcodon in wt / mu AA sequence 656 / 656
position of stopcodon in wt / mu cDNA 2147 / 2147
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 180 / 180
chromosome 17
strand 1
last intron/exon boundary 2007
theoretical NMD boundary in CDS 1777
length of CDS 1968
coding sequence (CDS) position 1349
cDNA position
(for ins/del: last normal base / first normal base)		 1528
gDNA position
(for ins/del: last normal base / first normal base)		 6860
chromosomal position
(for ins/del: last normal base / first normal base)		 7127303
original gDNA sequence snippet CTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCA
altered gDNA sequence snippet CTAGGAACCTGGAGTAGAGCATGTGCTCCGAGATCTTCGCA
original cDNA sequence snippet GAAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCA
altered cDNA sequence snippet GAAGGAACCTGGAGTAGAGCATGTGCTCCGAGATCTTCGCA
wildtype AA sequence MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQLALD KSDSHPSDAL
TRKKPAKAES KSFAVGMFKG QLTTDQVFPY PSVLNEEQTQ FLKELVEPVS RFFEEVNDPA
KNDALEMVEE TTWQGLKELG AFGLQVPSEL GGVGLCNTQY ARLVEIVGMH DLGVGITLGA
HQSIGFKGIL LFGTKAQKEK YLPKLASGET VAAFCLTEPS SGSDAASIRT SAVPSPCGKY
YTLNGSKLWI SNGGLADIFT VFAKTPVTDP ATGAVKEKIT AFVVERGFGG ITHGPPEKKM
GIKASNTAEV FFDGVRVPSE NVLGEVGSGF KVAMHILNNG RFGMAAALAG TMRGIIAKAV
DHATNRTQFG EKIHNFGLIQ EKLARMVMLQ YVTESMAYMV SANMDQGATD FQIEAAISKI
FGSEAAWKVT DECIQIMGGM GFMKEPGVER VLRDLRIFRI FEGTNDILRL FVALQGCMDK
GKELSGLGSA LKNPFGNAGL LLGEAGKQLR RRAGLGSGLS LSGLVHPELS RSGELAVRAL
EQFATVVEAK LIKHKKGIVN EQFLLQRLAD GAIDLYAMVV VLSRASRSLS EGHPTAQHEK
MLCDTWCIEA AARIREGMAA LQSDPWQQEL YRNFKSISKA LVERGGVVTS NPLGF*
mutated AA sequence MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQLALD KSDSHPSDAL
TRKKPAKAES KSFAVGMFKG QLTTDQVFPY PSVLNEEQTQ FLKELVEPVS RFFEEVNDPA
KNDALEMVEE TTWQGLKELG AFGLQVPSEL GGVGLCNTQY ARLVEIVGMH DLGVGITLGA
HQSIGFKGIL LFGTKAQKEK YLPKLASGET VAAFCLTEPS SGSDAASIRT SAVPSPCGKY
YTLNGSKLWI SNGGLADIFT VFAKTPVTDP ATGAVKEKIT AFVVERGFGG ITHGPPEKKM
GIKASNTAEV FFDGVRVPSE NVLGEVGSGF KVAMHILNNG RFGMAAALAG TMRGIIAKAV
DHATNRTQFG EKIHNFGLIQ EKLARMVMLQ YVTESMAYMV SANMDQGATD FQIEAAISKI
FGSEAAWKVT DECIQIMGGM GFMKEPGVEH VLRDLRIFRI FEGTNDILRL FVALQGCMDK
GKELSGLGSA LKNPFGNAGL LLGEAGKQLR RRAGLGSGLS LSGLVHPELS RSGELAVRAL
EQFATVVEAK LIKHKKGIVN EQFLLQRLAD GAIDLYAMVV VLSRASRSLS EGHPTAQHEK
MLCDTWCIEA AARIREGMAA LQSDPWQQEL YRNFKSISKA LVERGGVVTS NPLGF*
speed 0.94 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: 0.999999839470843 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM990097)
  • known disease mutation: rs1634 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7127303G>AN/A show variant in all transcripts   IGV
HGNC symbol ACADVL
Ensembl transcript ID ENST00000350303
Genbank transcript ID NM_001033859
UniProt peptide P49748
alteration type single base exchange
alteration region CDS
DNA changes c.1283G>A
cDNA.1405G>A
g.6860G>A
AA changes R428H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 428
frameshift no
known variant Reference ID: rs118204016
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC055

known disease mutation: rs1634 (pathogenic for Rhabdomyolysis|Abnormality of circulating enzyme level|Very long chain acyl-CoA dehydrogenase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990097)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990097)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990097)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5820.969
3.1530.965
(flanking)-1.8150.314
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6852wt: 0.9948 / mu: 0.9964 (marginal change - not scored)wt: CCTGGAGTAGAGCGT
mu: CCTGGAGTAGAGCAT		 TGGA|gtag
Donor gained68560.69mu: GAGTAGAGCATGTGC GTAG|agca
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      428GMGFMKEPGVERVLRDLRIFRIFE
mutated  not conserved    428MKEPGVEHVLRDLRIFRIF
Ptroglodytes  all identical  ENSPTRG00000008664  473MKEPGVERVLRDLRVFRIF
Mmulatta  all identical  ENSMMUG00000010538  470RMARTREEPGVERVLRDLRIF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018574  451GMGFMKEPGVERVLRDIRIFRIF
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000013710  452GMGFMKDSGVERVMRDLRIFRIF
Drerio  all identical  ENSDARG00000016687  455GMGFMKDAGVERVLRDLRIFRIF
Dmelanogaster  all identical  FBgn0034432  423GMGYMVDNGLERVLRDLRIFRIF
Celegans  all identical  E04F6.5  418GMGFMRETGLERVLRDLRIFRIF
Xtropicalis  all identical  ENSXETG00000031271  247MTVS--NRCICSLHCCGLI
protein features
start (aa)end (aa)featuredetails 
41482REGIONCatalytic.lost
412437HELIXlost
435439NP_BINDFAD (By similarity).might get lost (downstream of altered splice site)
439442HELIXmight get lost (downstream of altered splice site)
448455HELIXmight get lost (downstream of altered splice site)
456459HELIXmight get lost (downstream of altered splice site)
461463STRANDmight get lost (downstream of altered splice site)
462462ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
462463REGIONSubstrate binding.might get lost (downstream of altered splice site)
463463BINDINGSubstrate; via amide nitrogen (By similarity).might get lost (downstream of altered splice site)
464466NP_BINDFAD.might get lost (downstream of altered splice site)
465485HELIXmight get lost (downstream of altered splice site)
483516REGIONMembrane-anchoring (Probable).might get lost (downstream of altered splice site)
486488HELIXmight get lost (downstream of altered splice site)
522524TURNmight get lost (downstream of altered splice site)
527529HELIXmight get lost (downstream of altered splice site)
530554HELIXmight get lost (downstream of altered splice site)
555560HELIXmight get lost (downstream of altered splice site)
562591HELIXmight get lost (downstream of altered splice site)
596622HELIXmight get lost (downstream of altered splice site)
627644HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1902 / 1902
position (AA) of stopcodon in wt / mu AA sequence 634 / 634
position of stopcodon in wt / mu cDNA 2024 / 2024
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 123 / 123
chromosome 17
strand 1
last intron/exon boundary 1884
theoretical NMD boundary in CDS 1711
length of CDS 1902
coding sequence (CDS) position 1283
cDNA position
(for ins/del: last normal base / first normal base)		 1405
gDNA position
(for ins/del: last normal base / first normal base)		 6860
chromosomal position
(for ins/del: last normal base / first normal base)		 7127303
original gDNA sequence snippet CTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCA
altered gDNA sequence snippet CTAGGAACCTGGAGTAGAGCATGTGCTCCGAGATCTTCGCA
original cDNA sequence snippet GAAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCA
altered cDNA sequence snippet GAAGGAACCTGGAGTAGAGCATGTGCTCCGAGATCTTCGCA
wildtype AA sequence MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQESKS FAVGMFKGQL
TTDQVFPYPS VLNEEQTQFL KELVEPVSRF FEEVNDPAKN DALEMVEETT WQGLKELGAF
GLQVPSELGG VGLCNTQYAR LVEIVGMHDL GVGITLGAHQ SIGFKGILLF GTKAQKEKYL
PKLASGETVA AFCLTEPSSG SDAASIRTSA VPSPCGKYYT LNGSKLWISN GGLADIFTVF
AKTPVTDPAT GAVKEKITAF VVERGFGGIT HGPPEKKMGI KASNTAEVFF DGVRVPSENV
LGEVGSGFKV AMHILNNGRF GMAAALAGTM RGIIAKAVDH ATNRTQFGEK IHNFGLIQEK
LARMVMLQYV TESMAYMVSA NMDQGATDFQ IEAAISKIFG SEAAWKVTDE CIQIMGGMGF
MKEPGVERVL RDLRIFRIFE GTNDILRLFV ALQGCMDKGK ELSGLGSALK NPFGNAGLLL
GEAGKQLRRR AGLGSGLSLS GLVHPELSRS GELAVRALEQ FATVVEAKLI KHKKGIVNEQ
FLLQRLADGA IDLYAMVVVL SRASRSLSEG HPTAQHEKML CDTWCIEAAA RIREGMAALQ
SDPWQQELYR NFKSISKALV ERGGVVTSNP LGF*
mutated AA sequence MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQESKS FAVGMFKGQL
TTDQVFPYPS VLNEEQTQFL KELVEPVSRF FEEVNDPAKN DALEMVEETT WQGLKELGAF
GLQVPSELGG VGLCNTQYAR LVEIVGMHDL GVGITLGAHQ SIGFKGILLF GTKAQKEKYL
PKLASGETVA AFCLTEPSSG SDAASIRTSA VPSPCGKYYT LNGSKLWISN GGLADIFTVF
AKTPVTDPAT GAVKEKITAF VVERGFGGIT HGPPEKKMGI KASNTAEVFF DGVRVPSENV
LGEVGSGFKV AMHILNNGRF GMAAALAGTM RGIIAKAVDH ATNRTQFGEK IHNFGLIQEK
LARMVMLQYV TESMAYMVSA NMDQGATDFQ IEAAISKIFG SEAAWKVTDE CIQIMGGMGF
MKEPGVEHVL RDLRIFRIFE GTNDILRLFV ALQGCMDKGK ELSGLGSALK NPFGNAGLLL
GEAGKQLRRR AGLGSGLSLS GLVHPELSRS GELAVRALEQ FATVVEAKLI KHKKGIVNEQ
FLLQRLADGA IDLYAMVVVL SRASRSLSEG HPTAQHEKML CDTWCIEAAA RIREGMAALQ
SDPWQQELYR NFKSISKALV ERGGVVTSNP LGF*
speed 0.77 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