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: ENST00000409134
Querying Taster for transcript #2: ENST00000553117
Querying Taster for transcript #3: ENST00000447989
MT speed 0 s - this script 3.812639 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ALDH7A1disease_causing_automatic0.999999826779121simple_aaeaffected0N328Isingle base exchangers121912711show file
ALDH7A1disease_causing_automatic0.999999961753638simple_aaeaffected0N301Isingle base exchangers121912711show file
ALDH7A1disease_causing_automatic0.999999997969802simple_aaeaffected0N301Isingle base exchangers121912711show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999826779121 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD131094)
  • known disease mutation at this position (HGMD CM070009)
  • known disease mutation: rs18001 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:125896786T>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH7A1
Ensembl transcript ID ENST00000447989
Genbank transcript ID NM_001202404
UniProt peptide P49419
alteration type single base exchange
alteration region CDS
DNA changes c.983A>T
cDNA.1040A>T
g.34325A>T
AA changes N328I Score: 149 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 328
frameshift no
known variant Reference ID: rs121912711
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs18001 (pathogenic for Pyridoxine-dependent epilepsy) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD131094)

known disease mutation at this position, please check HGMD for details (HGMD ID CD131094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070009)

known disease mutation at this position, please check HGMD for details (HGMD ID CD131094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070009)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070009)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1541
3.3221
(flanking)4.8841
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased34318wt: 0.33 / mu: 0.38wt: TTGGAGGAAACAATG
mu: TTGGAGGAAACATTG		 GGAG|gaaa
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      328FGRSLLELGGNNAIIAFEDADLSL
mutated  not conserved    328FGRSLLELGGNIAIIAFEDADLS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002489  273FGRSLLELGGNNAIIAFEDADLS
Fcatus  not conserved  ENSFCAG00000011621  273XXXXXXXAII
Mmusculus  all identical  ENSMUSG00000053644  301NAIIAFEDADLS
Ggallus  all identical  ENSGALG00000008229  298FGRSLLELGGNNAIIVFEDADLN
Trubripes  not conserved  ENSTRUG00000017585  309KLLELGGNNAIIVFEDADLNLVVPSAVFASVGTAGQRCTTTRRLMLHESVHDAVIE
Drerio  all identical  ENSDARG00000018426  303FGRQLLELGGNNAIIVFEDADLS
Dmelanogaster  all identical  FBgn0036857  298GNNALIIDESANVK
Celegans  all identical  F01F1.6  291FGKLLLELGGNNAIIVNEDADLN
Xtropicalis  all identical  ENSXETG00000005191  303GNNAIIVFEDADLS
protein features
start (aa)end (aa)featuredetails 
324327HELIXmight get lost (downstream of altered splice site)
330330ACT_SITENucleophile.might get lost (downstream of altered splice site)
333339STRANDmight get lost (downstream of altered splice site)
340342TURNmight get lost (downstream of altered splice site)
343355HELIXmight get lost (downstream of altered splice site)
375390HELIXmight get lost (downstream of altered splice site)
394397STRANDmight get lost (downstream of altered splice site)
403407STRANDmight get lost (downstream of altered splice site)
412416STRANDmight get lost (downstream of altered splice site)
422425HELIXmight get lost (downstream of altered splice site)
429438STRANDmight get lost (downstream of altered splice site)
441449HELIXmight get lost (downstream of altered splice site)
455460STRANDmight get lost (downstream of altered splice site)
464471HELIXmight get lost (downstream of altered splice site)
478485STRANDmight get lost (downstream of altered splice site)
494496STRANDmight get lost (downstream of altered splice site)
500502HELIXmight get lost (downstream of altered splice site)
507509STRANDmight get lost (downstream of altered splice site)
512516HELIXmight get lost (downstream of altered splice site)
517525STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1509 / 1509
position (AA) of stopcodon in wt / mu AA sequence 503 / 503
position of stopcodon in wt / mu cDNA 1566 / 1566
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 58 / 58
chromosome 5
strand -1
last intron/exon boundary 1512
theoretical NMD boundary in CDS 1404
length of CDS 1509
coding sequence (CDS) position 983
cDNA position
(for ins/del: last normal base / first normal base)		 1040
gDNA position
(for ins/del: last normal base / first normal base)		 34325
chromosomal position
(for ins/del: last normal base / first normal base)		 125896786
original gDNA sequence snippet GTTGGAACTTGGAGGAAACAATGCCATTATTGGTAAGGCTG
altered gDNA sequence snippet GTTGGAACTTGGAGGAAACATTGCCATTATTGGTAAGGCTG
original cDNA sequence snippet GTTGGAACTTGGAGGAAACAATGCCATTATTGCCTTTGAAG
altered cDNA sequence snippet GTTGGAACTTGGAGGAAACATTGCCATTATTGCCTTTGAAG
wildtype AA sequence MGSPGRGAGL YFSSSQGLGL IPSPGLSMWR LPRALCVHAA KTSKLSGPWS RPAAFMSTLL
INQPQYAWLK ELGLREENEG VYNGSWGGRG EVITTYCPAN NEPIARVRQA SVADYEETVK
KAREAWKIWA DIPAPKRGEI VRQIGDALRE KIQVLGSLVS LEMGKILVEG VGEVQEYVDI
CDYAVGLSRM IGGPILPSER SGHALIEQWN PVGLVGIITA FNFPVAVYGW NNAIAMICGN
VCLWKGAPTT SLISVAVTKI IAKVLEDNKL PGAICSLTCG GADIGTAMAK DERVNLLSFT
GSTQVGKQVG LMVQERFGRS LLELGGNNAI IAFEDADLSL VVPSALFAAV GTAGQRCTTA
RRLVMDRPGN YVEPTIVTGL GHDASIAHTE TFAPILYVFK FKNEEEVFAW NNEVKQGLSS
SIFTKDLGRI FRWLGPKGSD CGIVNVNIPT SGAEIGGAFG GEKHTGGGRE SGSDAWKQYM
RRSTCTINYS KDLPLAQGIK FQ*
mutated AA sequence MGSPGRGAGL YFSSSQGLGL IPSPGLSMWR LPRALCVHAA KTSKLSGPWS RPAAFMSTLL
INQPQYAWLK ELGLREENEG VYNGSWGGRG EVITTYCPAN NEPIARVRQA SVADYEETVK
KAREAWKIWA DIPAPKRGEI VRQIGDALRE KIQVLGSLVS LEMGKILVEG VGEVQEYVDI
CDYAVGLSRM IGGPILPSER SGHALIEQWN PVGLVGIITA FNFPVAVYGW NNAIAMICGN
VCLWKGAPTT SLISVAVTKI IAKVLEDNKL PGAICSLTCG GADIGTAMAK DERVNLLSFT
GSTQVGKQVG LMVQERFGRS LLELGGNIAI IAFEDADLSL VVPSALFAAV GTAGQRCTTA
RRLVMDRPGN YVEPTIVTGL GHDASIAHTE TFAPILYVFK FKNEEEVFAW NNEVKQGLSS
SIFTKDLGRI FRWLGPKGSD CGIVNVNIPT SGAEIGGAFG GEKHTGGGRE SGSDAWKQYM
RRSTCTINYS KDLPLAQGIK FQ*
speed 0.87 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: 0.999999961753638 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD131094)
  • known disease mutation at this position (HGMD CM070009)
  • known disease mutation: rs18001 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:125896786T>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH7A1
Ensembl transcript ID ENST00000553117
Genbank transcript ID N/A
UniProt peptide P49419
alteration type single base exchange
alteration region CDS
DNA changes c.902A>T
cDNA.1040A>T
g.34325A>T
AA changes N301I Score: 149 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 301
frameshift no
known variant Reference ID: rs121912711
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs18001 (pathogenic for Pyridoxine-dependent epilepsy) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD131094)

known disease mutation at this position, please check HGMD for details (HGMD ID CD131094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070009)

known disease mutation at this position, please check HGMD for details (HGMD ID CD131094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070009)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070009)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1541
3.3221
(flanking)4.8841
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased34318wt: 0.33 / mu: 0.38wt: TTGGAGGAAACAATG
mu: TTGGAGGAAACATTG		 GGAG|gaaa
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      301FGRSLLELGGNNAIIAFEDADLSL
mutated  not conserved    301IAIIAFEDADLS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002489  273FGRSLLELGGNNAIIAFEDADLS
Fcatus  not conserved  ENSFCAG00000011621  273XXXXXXXAII
Mmusculus  all identical  ENSMUSG00000053644  301NAIIAFEDADLS
Ggallus  all identical  ENSGALG00000008229  298FGRSLLELGGNNAIIVFEDADLN
Trubripes  not conserved  ENSTRUG00000017585  309KLLELGGNNAIIVFEDADLNLVVPSAVFASVGTAGQRCTTTRRLMLHESVHDAVIE
Drerio  all identical  ENSDARG00000018426  303FGRQLLELGGNNAIIVFEDADLS
Dmelanogaster  all identical  FBgn0036857  299FGKVILELGGNNAL
Celegans  all identical  F01F1.6  291FGKLLLELGGNNAIIVNEDADLN
Xtropicalis  all identical  ENSXETG00000005191  303GNNAIIVFEDADLS
protein features
start (aa)end (aa)featuredetails 
301305STRANDlost
311323HELIXmight get lost (downstream of altered splice site)
324327HELIXmight get lost (downstream of altered splice site)
330330ACT_SITENucleophile.might get lost (downstream of altered splice site)
333339STRANDmight get lost (downstream of altered splice site)
340342TURNmight get lost (downstream of altered splice site)
343355HELIXmight get lost (downstream of altered splice site)
375390HELIXmight get lost (downstream of altered splice site)
394397STRANDmight get lost (downstream of altered splice site)
403407STRANDmight get lost (downstream of altered splice site)
412416STRANDmight get lost (downstream of altered splice site)
422425HELIXmight get lost (downstream of altered splice site)
429438STRANDmight get lost (downstream of altered splice site)
441449HELIXmight get lost (downstream of altered splice site)
455460STRANDmight get lost (downstream of altered splice site)
464471HELIXmight get lost (downstream of altered splice site)
478485STRANDmight get lost (downstream of altered splice site)
494496STRANDmight get lost (downstream of altered splice site)
500502HELIXmight get lost (downstream of altered splice site)
507509STRANDmight get lost (downstream of altered splice site)
512516HELIXmight get lost (downstream of altered splice site)
517525STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1428 / 1428
position (AA) of stopcodon in wt / mu AA sequence 476 / 476
position of stopcodon in wt / mu cDNA 1566 / 1566
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 139 / 139
chromosome 5
strand -1
last intron/exon boundary 1512
theoretical NMD boundary in CDS 1323
length of CDS 1428
coding sequence (CDS) position 902
cDNA position
(for ins/del: last normal base / first normal base)		 1040
gDNA position
(for ins/del: last normal base / first normal base)		 34325
chromosomal position
(for ins/del: last normal base / first normal base)		 125896786
original gDNA sequence snippet GTTGGAACTTGGAGGAAACAATGCCATTATTGGTAAGGCTG
altered gDNA sequence snippet GTTGGAACTTGGAGGAAACATTGCCATTATTGGTAAGGCTG
original cDNA sequence snippet GTTGGAACTTGGAGGAAACAATGCCATTATTGCCTTTGAAG
altered cDNA sequence snippet GTTGGAACTTGGAGGAAACATTGCCATTATTGCCTTTGAAG
wildtype AA sequence MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG
GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA
LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE
QWNPVGLVGI ITAFNFPVAV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED
NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLVMDR PGNYVEPTIV TGLGHDASIA
HTETFAPILY VFKFKNEEEV FAWNNEVKQG LSSSIFTKDL GRIFRWLGPK GSDCGIVNVN
IPTSGAEIGG AFGGEKHTGG GRESGSDAWK QYMRRSTCTI NYSKDLPLAQ GIKFQ*
mutated AA sequence MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG
GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA
LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE
QWNPVGLVGI ITAFNFPVAV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED
NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
IAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLVMDR PGNYVEPTIV TGLGHDASIA
HTETFAPILY VFKFKNEEEV FAWNNEVKQG LSSSIFTKDL GRIFRWLGPK GSDCGIVNVN
IPTSGAEIGG AFGGEKHTGG GRESGSDAWK QYMRRSTCTI NYSKDLPLAQ GIKFQ*
speed 0.86 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: 0.999999997969802 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD131094)
  • known disease mutation at this position (HGMD CM070009)
  • known disease mutation: rs18001 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:125896786T>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH7A1
Ensembl transcript ID ENST00000409134
Genbank transcript ID NM_001182
UniProt peptide P49419
alteration type single base exchange
alteration region CDS
DNA changes c.902A>T
cDNA.1122A>T
g.34325A>T
AA changes N301I Score: 149 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 301
frameshift no
known variant Reference ID: rs121912711
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs18001 (pathogenic for Pyridoxine-dependent epilepsy) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD131094)

known disease mutation at this position, please check HGMD for details (HGMD ID CD131094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070009)

known disease mutation at this position, please check HGMD for details (HGMD ID CD131094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070009)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070009)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1541
3.3221
(flanking)4.8841
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased34318wt: 0.33 / mu: 0.38wt: TTGGAGGAAACAATG
mu: TTGGAGGAAACATTG		 GGAG|gaaa
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      301FGRSLLELGGNNAIIAFEDADLSL
mutated  not conserved    301IAIIAFEDADLS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002489  273FGRSLLELGGNNAIIAFEDADLS
Fcatus  not conserved  ENSFCAG00000011621  273XXXXXXXAIIXXXXXXXX
Mmusculus  all identical  ENSMUSG00000053644  301NAIIAFEDADLS
Ggallus  all identical  ENSGALG00000008229  298FGRSLLELGGNNAIIVFEDADLN
Trubripes  all identical  ENSTRUG00000017585  309KLLELGGNNAIIVFEDADLN
Drerio  all identical  ENSDARG00000018426  303FGRQLLELGGNNAIIVFEDADLS
Dmelanogaster  all identical  FBgn0036857  299FGKVILELGGNNAL
Celegans  all identical  F01F1.6  291FGKLLLELGGNNAIIVNEDADLN
Xtropicalis  all identical  ENSXETG00000005191  303GNNAIIVFEDADLS
protein features
start (aa)end (aa)featuredetails 
301305STRANDlost
311323HELIXmight get lost (downstream of altered splice site)
324327HELIXmight get lost (downstream of altered splice site)
330330ACT_SITENucleophile.might get lost (downstream of altered splice site)
333339STRANDmight get lost (downstream of altered splice site)
340342TURNmight get lost (downstream of altered splice site)
343355HELIXmight get lost (downstream of altered splice site)
375390HELIXmight get lost (downstream of altered splice site)
394397STRANDmight get lost (downstream of altered splice site)
403407STRANDmight get lost (downstream of altered splice site)
412416STRANDmight get lost (downstream of altered splice site)
422425HELIXmight get lost (downstream of altered splice site)
429438STRANDmight get lost (downstream of altered splice site)
441449HELIXmight get lost (downstream of altered splice site)
455460STRANDmight get lost (downstream of altered splice site)
464471HELIXmight get lost (downstream of altered splice site)
478485STRANDmight get lost (downstream of altered splice site)
494496STRANDmight get lost (downstream of altered splice site)
500502HELIXmight get lost (downstream of altered splice site)
507509STRANDmight get lost (downstream of altered splice site)
512516HELIXmight get lost (downstream of altered splice site)
517525STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1620 / 1620
position (AA) of stopcodon in wt / mu AA sequence 540 / 540
position of stopcodon in wt / mu cDNA 1840 / 1840
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 221 / 221
chromosome 5
strand -1
last intron/exon boundary 1786
theoretical NMD boundary in CDS 1515
length of CDS 1620
coding sequence (CDS) position 902
cDNA position
(for ins/del: last normal base / first normal base)		 1122
gDNA position
(for ins/del: last normal base / first normal base)		 34325
chromosomal position
(for ins/del: last normal base / first normal base)		 125896786
original gDNA sequence snippet GTTGGAACTTGGAGGAAACAATGCCATTATTGGTAAGGCTG
altered gDNA sequence snippet GTTGGAACTTGGAGGAAACATTGCCATTATTGGTAAGGCTG
original cDNA sequence snippet GTTGGAACTTGGAGGAAACAATGCCATTATTGCCTTTGAAG
altered cDNA sequence snippet GTTGGAACTTGGAGGAAACATTGCCATTATTGCCTTTGAAG
wildtype AA sequence MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG
GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA
LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE
QWNPVGLVGI ITAFNFPVAV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED
NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLFIHE SIHDEVVNRL KKAYAQIRVG
NPWDPNVLYG PLHTKQAVSM FLGAVEEAKK EGGTVVYGGK VMDRPGNYVE PTIVTGLGHD
ASIAHTETFA PILYVFKFKN EEEVFAWNNE VKQGLSSSIF TKDLGRIFRW LGPKGSDCGI
VNVNIPTSGA EIGGAFGGEK HTGGGRESGS DAWKQYMRRS TCTINYSKDL PLAQGIKFQ*
mutated AA sequence MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG
GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA
LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE
QWNPVGLVGI ITAFNFPVAV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED
NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
IAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLFIHE SIHDEVVNRL KKAYAQIRVG
NPWDPNVLYG PLHTKQAVSM FLGAVEEAKK EGGTVVYGGK VMDRPGNYVE PTIVTGLGHD
ASIAHTETFA PILYVFKFKN EEEVFAWNNE VKQGLSSSIF TKDLGRIFRW LGPKGSDCGI
VNVNIPTSGA EIGGAFGGEK HTGGGRESGS DAWKQYMRRS TCTINYSKDL PLAQGIKFQ*
speed 0.80 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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