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 7.13 s - this script 6.966981 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACADMdisease_causing_automatic0.99999995278555simple_aaeaffected0M153Isingle base exchangers121434277show file
ACADMdisease_causing_automatic0.999999989575271simple_aaeaffected0M182Isingle base exchangers121434277show file
ACADMdisease_causing_automatic0.999999992252944simple_aaeaffected0M149Isingle base exchangers121434277show file
ACADMdisease_causing_automatic0.999999992252944simple_aaeaffected0M113Isingle base exchangers121434277show file
ACADMdisease_causing_automatic1without_aaeaffected0single base exchangers121434277show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999995278555 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910001)
  • known disease mutation: rs3591 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76200535G>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.459G>A
cDNA.467G>A
g.10500G>A
AA changes M153I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS
153
frameshift no
known variant Reference ID: rs121434277
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs3591 (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 CM910001)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0061
6.0641
(flanking)2.4681
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased10492wt: 0.45 / mu: 0.69wt: ATTTGGGGAGAATGA
mu: ATTTGGGGAGAATAA
 TTGG|ggag
Donor increased10500wt: 0.29 / mu: 0.67wt: AGAATGACTGAGGAG
mu: AGAATAACTGAGGAG
 AATG|actg
Donor increased10501wt: 0.62 / mu: 0.85wt: GAATGACTGAGGAGC
mu: GAATAACTGAGGAGC
 ATGA|ctga
Donor marginally increased10503wt: 0.9901 / mu: 0.9948 (marginal change - not scored)wt: ATGACTGAGGAGCCA
mu: ATAACTGAGGAGCCA
 GACT|gagg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      153NDQQKKKYLGRMTEEPLMCAYCVT
mutated  all conserved    153NDQQKKKYLGRITEEPLMCAYCV
Ptroglodytes  all identical  ENSPTRG00000000871  149NDQQKKKYLGRMTEEPLMCAYCV
Mmulatta  all identical  ENSMMUG00000007220  182KYLGRMTEEPLMCAYCV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  149NDQQKKKYLGRMTEQPMMCAYCV
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000007137  178NDAQKRKYLGRLIEEPLMCAYCV
Drerio  all identical  ENSDARG00000038900  154NDAQRKKYLGRMTEEPLM
Dmelanogaster  all conserved  FBgn0035811  145NKEQKKKYLGRLLEEPLVAAYCV
Celegans  all conserved  T08G2.3  139NEEQKKKYLGALAAEPIIAS
Xtropicalis  all identical  ENSXETG00000002983  154NEAQKKKYLGRMMEEPLMCAYCV
protein features
start (aa)end (aa)featuredetails 
139151HELIXmight 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)
175178STRANDmight get lost (downstream of altered splice site)
180193STRANDmight get lost (downstream of altered splice site)
191191MUTAGENW->A: Loss of electron transfer to ETF.might get lost (downstream of altered splice site)
191191MUTAGENW->F: Reduces rate of electron transfer to ETF about six-fold.might 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)
199206STRANDmight get lost (downstream of altered splice site)
212212MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
215217HELIXmight get lost (downstream of altered splice site)
216216BINDINGSubstrate.might get lost (downstream of altered splice site)
219225STRANDmight get lost (downstream of altered splice site)
231233STRANDmight get lost (downstream of altered splice site)
237237MUTAGENE->A: Strongly reduced rate of electron transfer to ETF.might get lost (downstream of altered splice site)
239241STRANDmight get lost (downstream of altered splice site)
247258STRANDmight get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262265STRANDmight get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
269303HELIXmight get lost (downstream of altered splice site)
278281REGIONSubstrate binding.might get lost (downstream of altered splice site)
279279MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
301301MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
306308NP_BINDFAD.might get lost (downstream of altered splice site)
309312STRANDmight get lost (downstream of altered splice site)
313315HELIXmight get lost (downstream of altered splice site)
316317NP_BINDFAD.might get lost (downstream of altered splice site)
317345HELIXmight get lost (downstream of altered splice site)
351376HELIXmight get lost (downstream of altered splice site)
356356CONFLICTI -> T (in Ref. 3; AAF63626).might get lost (downstream of altered splice site)
374378NP_BINDFAD.might get lost (downstream of altered splice site)
377379HELIXmight get lost (downstream of altered splice site)
384384MUTAGENE->Q: Reduces rate of electron transfer to ETF two-fold.might get lost (downstream of altered splice site)
384384MUTAGENE->A: Reduces rate of electron transfer to ETF three-fold.might get lost (downstream of altered splice site)
387394HELIXmight get lost (downstream of altered splice site)
395398HELIXmight get lost (downstream of altered splice site)
399401TURNmight get lost (downstream of altered splice site)
401401ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
402402BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
403405NP_BINDFAD.might get lost (downstream of altered splice site)
404417HELIXmight get lost (downstream of altered splice site)
413413BINDINGSubstrate.might get lost (downstream of altered splice site)
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 459
cDNA position
(for ins/del: last normal base / first normal base)
467
gDNA position
(for ins/del: last normal base / first normal base)
10500
chromosomal position
(for ins/del: last normal base / first normal base)
76200535
original gDNA sequence snippet AAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTG
altered gDNA sequence snippet AAGAAGTATTTGGGGAGAATAACTGAGGAGCCATTGATGTG
original cDNA sequence snippet AAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTG
altered cDNA sequence snippet AAGAAGTATTTGGGGAGAATAACTGAGGAGCCATTGATGTG
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 GRITEEPLMC 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*
speed 1.53 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: 0.999999989575271 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910001)
  • known disease mutation: rs3591 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76200535G>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.546G>A
cDNA.625G>A
g.10500G>A
AA changes M182I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS
182
frameshift no
known variant Reference ID: rs121434277
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs3591 (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 CM910001)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0061
6.0641
(flanking)2.4681
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased10492wt: 0.45 / mu: 0.69wt: ATTTGGGGAGAATGA
mu: ATTTGGGGAGAATAA
 TTGG|ggag
Donor increased10500wt: 0.29 / mu: 0.67wt: AGAATGACTGAGGAG
mu: AGAATAACTGAGGAG
 AATG|actg
Donor increased10501wt: 0.62 / mu: 0.85wt: GAATGACTGAGGAGC
mu: GAATAACTGAGGAGC
 ATGA|ctga
Donor marginally increased10503wt: 0.9901 / mu: 0.9948 (marginal change - not scored)wt: ATGACTGAGGAGCCA
mu: ATAACTGAGGAGCCA
 GACT|gagg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      182NDQQKKKYLGRMTEEPLMCAYCVT
mutated  all conserved    182RITEEPLMCAYCV
Ptroglodytes  all identical  ENSPTRG00000000871  149RMTEEPLMCAYCV
Mmulatta  all identical  ENSMMUG00000007220  182RMTEEPLMCAYCV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  149RMTEQPMMCAYCV
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000007137  178NDAQKRKYLGRLIEEPL
Drerio  all identical  ENSDARG00000038900  154NDAQRKKYLGRMTEEPLMCAYCV
Dmelanogaster  all conserved  FBgn0035811  145NKEQKKKYLGRLLEEPLVA
Celegans  all conserved  T08G2.3  139NEEQKKKYLGALAAEPIIASYCV
Xtropicalis  all identical  ENSXETG00000002983  158NEAQKKKYLGRMME
protein features
start (aa)end (aa)featuredetails 
180193STRANDlost
191191MUTAGENW->A: Loss of electron transfer to ETF.might get lost (downstream of altered splice site)
191191MUTAGENW->F: Reduces rate of electron transfer to ETF about six-fold.might 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)
199206STRANDmight get lost (downstream of altered splice site)
212212MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
215217HELIXmight get lost (downstream of altered splice site)
216216BINDINGSubstrate.might get lost (downstream of altered splice site)
219225STRANDmight get lost (downstream of altered splice site)
231233STRANDmight get lost (downstream of altered splice site)
237237MUTAGENE->A: Strongly reduced rate of electron transfer to ETF.might get lost (downstream of altered splice site)
239241STRANDmight get lost (downstream of altered splice site)
247258STRANDmight get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262265STRANDmight get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
269303HELIXmight get lost (downstream of altered splice site)
278281REGIONSubstrate binding.might get lost (downstream of altered splice site)
279279MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
301301MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
306308NP_BINDFAD.might get lost (downstream of altered splice site)
309312STRANDmight get lost (downstream of altered splice site)
313315HELIXmight get lost (downstream of altered splice site)
316317NP_BINDFAD.might get lost (downstream of altered splice site)
317345HELIXmight get lost (downstream of altered splice site)
351376HELIXmight get lost (downstream of altered splice site)
356356CONFLICTI -> T (in Ref. 3; AAF63626).might get lost (downstream of altered splice site)
374378NP_BINDFAD.might get lost (downstream of altered splice site)
377379HELIXmight get lost (downstream of altered splice site)
384384MUTAGENE->A: Reduces rate of electron transfer to ETF three-fold.might get lost (downstream of altered splice site)
384384MUTAGENE->Q: Reduces rate of electron transfer to ETF two-fold.might get lost (downstream of altered splice site)
387394HELIXmight get lost (downstream of altered splice site)
395398HELIXmight get lost (downstream of altered splice site)
399401TURNmight get lost (downstream of altered splice site)
401401ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
402402BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
403405NP_BINDFAD.might get lost (downstream of altered splice site)
404417HELIXmight get lost (downstream of altered splice site)
413413BINDINGSubstrate.might get lost (downstream of altered splice site)
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 546
cDNA position
(for ins/del: last normal base / first normal base)
625
gDNA position
(for ins/del: last normal base / first normal base)
10500
chromosomal position
(for ins/del: last normal base / first normal base)
76200535
original gDNA sequence snippet AAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTG
altered gDNA sequence snippet AAGAAGTATTTGGGGAGAATAACTGAGGAGCCATTGATGTG
original cDNA sequence snippet AAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTG
altered cDNA sequence snippet AAGAAGTATTTGGGGAGAATAACTGAGGAGCCATTGATGTG
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
RITEEPLMCA 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*
speed 1.55 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: 0.999999992252944 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910001)
  • known disease mutation: rs3591 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76200535G>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.447G>A
cDNA.884G>A
g.10500G>A
AA changes M149I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS
149
frameshift no
known variant Reference ID: rs121434277
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs3591 (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 CM910001)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0061
6.0641
(flanking)2.4681
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased10492wt: 0.45 / mu: 0.69wt: ATTTGGGGAGAATGA
mu: ATTTGGGGAGAATAA
 TTGG|ggag
Donor increased10500wt: 0.29 / mu: 0.67wt: AGAATGACTGAGGAG
mu: AGAATAACTGAGGAG
 AATG|actg
Donor increased10501wt: 0.62 / mu: 0.85wt: GAATGACTGAGGAGC
mu: GAATAACTGAGGAGC
 ATGA|ctga
Donor marginally increased10503wt: 0.9901 / mu: 0.9948 (marginal change - not scored)wt: ATGACTGAGGAGCCA
mu: ATAACTGAGGAGCCA
 GACT|gagg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      149NDQQKKKYLGRMTEEPLMCAYCVT
mutated  all conserved    149NDQQKKKYLGRITEEPLMCAYCV
Ptroglodytes  all identical  ENSPTRG00000000871  149NDQQKKKYLGRMTEEPLMCAYCV
Mmulatta  all identical  ENSMMUG00000007220  182RMTEEPLMCAYCV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  149NDQQKKKYLGRMTEQPMMCAYCV
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000007137  178NDAQKRKYLGRLIEEPLMCAYCV
Drerio  all identical  ENSDARG00000038900  154NDAQRKKYLGRMTEEPLM
Dmelanogaster  all conserved  FBgn0035811  145NKEQKKKYLGRLLEEPLVAAYCV
Celegans  all conserved  T08G2.3  139NEEQKKKYLGALAAEPIIAS
Xtropicalis  all identical  ENSXETG00000002983  154NEAQKKKYLGRMMEEPLMCAYCV
protein features
start (aa)end (aa)featuredetails 
139151HELIXlost
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)
175178STRANDmight get lost (downstream of altered splice site)
180193STRANDmight get lost (downstream of altered splice site)
191191MUTAGENW->A: Loss of electron transfer to ETF.might get lost (downstream of altered splice site)
191191MUTAGENW->F: Reduces rate of electron transfer to ETF about six-fold.might 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)
199206STRANDmight get lost (downstream of altered splice site)
212212MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
215217HELIXmight get lost (downstream of altered splice site)
216216BINDINGSubstrate.might get lost (downstream of altered splice site)
219225STRANDmight get lost (downstream of altered splice site)
231233STRANDmight get lost (downstream of altered splice site)
237237MUTAGENE->A: Strongly reduced rate of electron transfer to ETF.might get lost (downstream of altered splice site)
239241STRANDmight get lost (downstream of altered splice site)
247258STRANDmight get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262265STRANDmight get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
269303HELIXmight get lost (downstream of altered splice site)
278281REGIONSubstrate binding.might get lost (downstream of altered splice site)
279279MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
301301MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
306308NP_BINDFAD.might get lost (downstream of altered splice site)
309312STRANDmight get lost (downstream of altered splice site)
313315HELIXmight get lost (downstream of altered splice site)
316317NP_BINDFAD.might get lost (downstream of altered splice site)
317345HELIXmight get lost (downstream of altered splice site)
351376HELIXmight get lost (downstream of altered splice site)
356356CONFLICTI -> T (in Ref. 3; AAF63626).might get lost (downstream of altered splice site)
374378NP_BINDFAD.might get lost (downstream of altered splice site)
377379HELIXmight get lost (downstream of altered splice site)
384384MUTAGENE->Q: Reduces rate of electron transfer to ETF two-fold.might get lost (downstream of altered splice site)
384384MUTAGENE->A: Reduces rate of electron transfer to ETF three-fold.might get lost (downstream of altered splice site)
387394HELIXmight get lost (downstream of altered splice site)
395398HELIXmight get lost (downstream of altered splice site)
399401TURNmight get lost (downstream of altered splice site)
401401ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
402402BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
403405NP_BINDFAD.might get lost (downstream of altered splice site)
404417HELIXmight get lost (downstream of altered splice site)
413413BINDINGSubstrate.might get lost (downstream of altered splice site)
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 447
cDNA position
(for ins/del: last normal base / first normal base)
884
gDNA position
(for ins/del: last normal base / first normal base)
10500
chromosomal position
(for ins/del: last normal base / first normal base)
76200535
original gDNA sequence snippet AAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTG
altered gDNA sequence snippet AAGAAGTATTTGGGGAGAATAACTGAGGAGCCATTGATGTG
original cDNA sequence snippet AAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTG
altered cDNA sequence snippet AAGAAGTATTTGGGGAGAATAACTGAGGAGCCATTGATGTG
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 QKKKYLGRIT 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*
speed 1.55 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: 0.999999992252944 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910001)
  • known disease mutation: rs3591 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76200535G>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.339G>A
cDNA.392G>A
g.10500G>A
AA changes M113I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS
113
frameshift no
known variant Reference ID: rs121434277
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs3591 (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 CM910001)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0061
6.0641
(flanking)2.4681
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased10492wt: 0.45 / mu: 0.69wt: ATTTGGGGAGAATGA
mu: ATTTGGGGAGAATAA
 TTGG|ggag
Donor increased10500wt: 0.29 / mu: 0.67wt: AGAATGACTGAGGAG
mu: AGAATAACTGAGGAG
 AATG|actg
Donor increased10501wt: 0.62 / mu: 0.85wt: GAATGACTGAGGAGC
mu: GAATAACTGAGGAGC
 ATGA|ctga
Donor marginally increased10503wt: 0.9901 / mu: 0.9948 (marginal change - not scored)wt: ATGACTGAGGAGCCA
mu: ATAACTGAGGAGCCA
 GACT|gagg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      113NDQQKKKYLGRMTEEPLMCAYCVT
mutated  all conserved    113NDQQKKKYLGRITEEPLMC
Ptroglodytes  all identical  ENSPTRG00000000871  149NDQQKKKYLGRMTEEPLMCAYC
Mmulatta  all identical  ENSMMUG00000007220  182NEQQKKKYLGRMTEEPLMCAYCV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  149NDQQKKKYLGRMTEQPMMCAYC
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000007137  178NDAQKRKYLGRLIEEPLMCAYCV
Drerio  all identical  ENSDARG00000038900  154NDAQRKKYLGRMTEEPLMCAYC
Dmelanogaster  all conserved  FBgn0035811  145NKEQKKKYLGRLLEEPLVAAYCV
Celegans  all conserved  T08G2.3  139NEEQKKKYLGALAAEPIIASYC
Xtropicalis  all identical  ENSXETG00000002983  154NEAQKKKYLGRMMEEPLMCAY
protein features
start (aa)end (aa)featuredetails 
102115HELIXlost
117129HELIXmight get lost (downstream of altered splice site)
131136HELIXmight get lost (downstream of altered splice site)
139151HELIXmight 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)
175178STRANDmight get lost (downstream of altered splice site)
180193STRANDmight get lost (downstream of altered splice site)
191191MUTAGENW->A: Loss of electron transfer to ETF.might get lost (downstream of altered splice site)
191191MUTAGENW->F: Reduces rate of electron transfer to ETF about six-fold.might 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)
199206STRANDmight get lost (downstream of altered splice site)
212212MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
215217HELIXmight get lost (downstream of altered splice site)
216216BINDINGSubstrate.might get lost (downstream of altered splice site)
219225STRANDmight get lost (downstream of altered splice site)
231233STRANDmight get lost (downstream of altered splice site)
237237MUTAGENE->A: Strongly reduced rate of electron transfer to ETF.might get lost (downstream of altered splice site)
239241STRANDmight get lost (downstream of altered splice site)
247258STRANDmight get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262265STRANDmight get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
269303HELIXmight get lost (downstream of altered splice site)
278281REGIONSubstrate binding.might get lost (downstream of altered splice site)
279279MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
301301MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
306308NP_BINDFAD.might get lost (downstream of altered splice site)
309312STRANDmight get lost (downstream of altered splice site)
313315HELIXmight get lost (downstream of altered splice site)
316317NP_BINDFAD.might get lost (downstream of altered splice site)
317345HELIXmight get lost (downstream of altered splice site)
351376HELIXmight get lost (downstream of altered splice site)
356356CONFLICTI -> T (in Ref. 3; AAF63626).might get lost (downstream of altered splice site)
374378NP_BINDFAD.might get lost (downstream of altered splice site)
377379HELIXmight get lost (downstream of altered splice site)
384384MUTAGENE->A: Reduces rate of electron transfer to ETF three-fold.might get lost (downstream of altered splice site)
384384MUTAGENE->Q: Reduces rate of electron transfer to ETF two-fold.might get lost (downstream of altered splice site)
387394HELIXmight get lost (downstream of altered splice site)
395398HELIXmight get lost (downstream of altered splice site)
399401TURNmight get lost (downstream of altered splice site)
401401ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
402402BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
403405NP_BINDFAD.might get lost (downstream of altered splice site)
404417HELIXmight get lost (downstream of altered splice site)
413413BINDINGSubstrate.might get lost (downstream of altered splice site)
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 339
cDNA position
(for ins/del: last normal base / first normal base)
392
gDNA position
(for ins/del: last normal base / first normal base)
10500
chromosomal position
(for ins/del: last normal base / first normal base)
76200535
original gDNA sequence snippet AAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTG
altered gDNA sequence snippet AAGAAGTATTTGGGGAGAATAACTGAGGAGCCATTGATGTG
original cDNA sequence snippet AAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTG
altered cDNA sequence snippet AAGAAGTATTTGGGGAGAATAACTGAGGAGCCATTGATGTG
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 GRITEEPLMC
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*
speed 1.55 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM910001)
  • known disease mutation: rs3591 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76200535G>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 intron
DNA changes g.10500G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs121434277
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs3591 (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 CM910001)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910001)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0061
6.0641
(flanking)2.4681
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -32) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased10492wt: 0.45 / mu: 0.69wt: ATTTGGGGAGAATGA
mu: ATTTGGGGAGAATAA
 TTGG|ggag
Donor increased10500wt: 0.29 / mu: 0.67wt: AGAATGACTGAGGAG
mu: AGAATAACTGAGGAG
 AATG|actg
Donor increased10501wt: 0.62 / mu: 0.85wt: GAATGACTGAGGAGC
mu: GAATAACTGAGGAGC
 ATGA|ctga
Donor marginally increased10503wt: 0.9901 / mu: 0.9948 (marginal change - not scored)wt: ATGACTGAGGAGCCA
mu: ATAACTGAGGAGCCA
 GACT|gagg
distance from splice site 1928
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
125TRANSITMitochondrion.might get lost (downstream of altered splice site)
3638STRANDmight get lost (downstream of altered splice site)
4359HELIXmight get lost (downstream of altered splice site)
6170HELIXmight get lost (downstream of altered splice site)
7584HELIXmight get lost (downstream of altered splice site)
8686MUTAGENL->M: Strongly reduced rate of electron transfer to ETF.might get lost (downstream of altered splice site)
9395HELIXmight get lost (downstream of altered splice site)
9898MUTAGENL->W: Strongly reduced rate of electron transfer to ETF.might get lost (downstream of altered splice site)
100100MUTAGENL->Y: Strongly reduced rate of electron transfer to ETF.might get lost (downstream of altered splice site)
102115HELIXmight get lost (downstream of altered splice site)
108108MUTAGENI->M: Strongly reduced rate of electron transfer to ETF.might get lost (downstream of altered splice site)
117129HELIXmight get lost (downstream of altered splice site)
131136HELIXmight get lost (downstream of altered splice site)
139151HELIXmight 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)
175178STRANDmight get lost (downstream of altered splice site)
180193STRANDmight get lost (downstream of altered splice site)
191191MUTAGENW->A: Loss of electron transfer to ETF.might get lost (downstream of altered splice site)
191191MUTAGENW->F: Reduces rate of electron transfer to ETF about six-fold.might 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)
199206STRANDmight get lost (downstream of altered splice site)
212212MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
215217HELIXmight get lost (downstream of altered splice site)
216216BINDINGSubstrate.might get lost (downstream of altered splice site)
219225STRANDmight get lost (downstream of altered splice site)
231233STRANDmight get lost (downstream of altered splice site)
237237MUTAGENE->A: Strongly reduced rate of electron transfer to ETF.might get lost (downstream of altered splice site)
239241STRANDmight get lost (downstream of altered splice site)
247258STRANDmight get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262265STRANDmight get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
269303HELIXmight get lost (downstream of altered splice site)
278281REGIONSubstrate binding.might get lost (downstream of altered splice site)
279279MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
301301MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
306308NP_BINDFAD.might get lost (downstream of altered splice site)
309312STRANDmight get lost (downstream of altered splice site)
313315HELIXmight get lost (downstream of altered splice site)
316317NP_BINDFAD.might get lost (downstream of altered splice site)
317345HELIXmight get lost (downstream of altered splice site)
351376HELIXmight get lost (downstream of altered splice site)
356356CONFLICTI -> T (in Ref. 3; AAF63626).might get lost (downstream of altered splice site)
374378NP_BINDFAD.might get lost (downstream of altered splice site)
377379HELIXmight get lost (downstream of altered splice site)
384384MUTAGENE->Q: Reduces rate of electron transfer to ETF two-fold.might get lost (downstream of altered splice site)
384384MUTAGENE->A: Reduces rate of electron transfer to ETF three-fold.might get lost (downstream of altered splice site)
387394HELIXmight get lost (downstream of altered splice site)
395398HELIXmight get lost (downstream of altered splice site)
399401TURNmight get lost (downstream of altered splice site)
401401ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
402402BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
403405NP_BINDFAD.might get lost (downstream of altered splice site)
404417HELIXmight get lost (downstream of altered splice site)
413413BINDINGSubstrate.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 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 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)
10500
chromosomal position
(for ins/del: last normal base / first normal base)
76200535
original gDNA sequence snippet AAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTG
altered gDNA sequence snippet AAGAAGTATTTGGGGAGAATAACTGAGGAGCCATTGATGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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 N/A
speed 0.95 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

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