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: ENST00000273450
Querying Taster for transcript #2: ENST00000472186
Querying Taster for transcript #3: ENST00000452905
Querying Taster for transcript #4: ENST00000393434
Querying Taster for transcript #5: ENST00000393431
MT speed 4.49 s - this script 5.352643 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ALDH1L1polymorphism_automatic3.65067529920493e-05simple_aaeaffectedV340Fsingle base exchangers2886059show file
ALDH1L1polymorphism_automatic0.000111112966687976simple_aaeaffectedV229Fsingle base exchangers2886059show file
ALDH1L1polymorphism_automatic0.000222449112116996simple_aaeaffectedV330Fsingle base exchangers2886059show file
ALDH1L1polymorphism_automatic0.000222449112116996simple_aaeaffectedV330Fsingle base exchangers2886059show file
ALDH1L1polymorphism_automatic0.000222449112116996simple_aaeaffectedV330Fsingle base exchangers2886059show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999963493247008 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:125865766C>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH1L1
Ensembl transcript ID ENST00000273450
Genbank transcript ID NM_001270364
UniProt peptide O75891
alteration type single base exchange
alteration region CDS
DNA changes c.1018G>T
cDNA.1236G>T
g.51072G>T
AA changes V340F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 340
frameshift no
known variant Reference ID: rs2886059
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC18521594217794
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6260.349
0.9530.355
(flanking)-0.2210.347
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51069wt: 0.2705 / mu: 0.3236 (marginal change - not scored)wt: CATCAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTC
mu: CATCAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTC		 caga|GTGT
Donor increased51076wt: 0.51 / mu: 0.67wt: TGTTTGGCAGCGGAT
mu: TTTTTGGCAGCGGAT		 TTTG|gcag
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      340AELVTAEAVRSVWQRILPKVLEVE
mutated  not conserved    340AELVTAEAVRSFWQRILPKVLEV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000012488  332AELVTAEAVRSAWQRILPNVLEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030088  330EELATAEAVRSSWMRILPNVPEV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000006080  330EEGRFAEQMRAVWQSILSNVSRI
Drerio  all identical  ENSDARG00000077004  332DENRFAEQMRVVWKSILTNVEKI
Dmelanogaster  all conserved  FBgn0032945  341DELVKRSLLAGIWKAILKE--DV
Celegans  all conserved  F36H1.6  340EEKSTVAKLKKIWTGILKT--QV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
323392DOMAINAcyl carrier.lost
347351HELIXmight get lost (downstream of altered splice site)
354354MOD_RESO-(pantetheine 4'-phosphoryl)serine (By similarity).might get lost (downstream of altered splice site)
356367HELIXmight get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
384397HELIXmight get lost (downstream of altered splice site)
417902REGIONAldehyde dehydrogenase.might get lost (downstream of altered splice site)
470470CONFLICTD -> G (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
571573NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
597600NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
613613MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
630635NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
650651NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
673673ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
677677CONFLICTK -> E (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
680680CONFLICTL -> F (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
702702CONFLICTN -> S (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
707707ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
757757BINDINGNADP (By similarity).might get lost (downstream of altered splice site)
804806NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2739 / 2739
position (AA) of stopcodon in wt / mu AA sequence 913 / 913
position of stopcodon in wt / mu cDNA 2957 / 2957
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 219 / 219
chromosome 3
strand -1
last intron/exon boundary 2902
theoretical NMD boundary in CDS 2633
length of CDS 2739
coding sequence (CDS) position 1018
cDNA position
(for ins/del: last normal base / first normal base)		 1236
gDNA position
(for ins/del: last normal base / first normal base)		 51072
chromosomal position
(for ins/del: last normal base / first normal base)		 125865766
original gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTCCCC
altered gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTCCCC
original cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTGTTTGGCAGCGGATCCTCCCC
altered cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTTTTTGGCAGCGGATCCTCCCC
wildtype AA sequence MAGPSNPPAT MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG
VPVFKYSRWR AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL
PRHRGASAIN WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP
EGIKGMVQAV RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV
PGAWTEACEQ KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK
NIQLEDGKMI LASNFFKGAA SSVLELTEAE LVTAEAVRSV WQRILPKVLE VEDSTDFFKS
GAASVDVVRL VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE
MAVNKRTVRM PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD
AFENGRWGKI SARDRGRLMY RLADLMEQHQ EELATIEALD AGAVYTLALK THVGMSIQTF
RYFAGWCDKI QGSTIPINQA RPNRNLTLTR KEPVGVCGII IPWNYPLMML SWKTAACLAA
GNTVVIKPAQ VTPLTALKFA ELTLKAGIPK GVVNVLPGSG SLVGQRLSDH PDVRKIGFTG
STEVGKHIMK SCAISNVKKV SLELGGKSPL IIFADCDLNK AVQMGMSSVF FNKGENCIAA
GRLFVEDSIH DEFVRRVVEE VRKMKVGNPL DRDTDHGPQN HHAHLVKLME YCQHGVKEGA
TLVCGGNQVP RPGFFFEPTV FTDVEDHMFI AKEESFGPVM IISRFADGDL DAVLSRANAT
EFGLASGVFT RDINKALYVS DKLQAGTVFV NTYNKTDVAA PFGGFKQSGF GKDLGEAALN
EYLRVKTVTF EY*
mutated AA sequence MAGPSNPPAT MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG
VPVFKYSRWR AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL
PRHRGASAIN WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP
EGIKGMVQAV RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV
PGAWTEACEQ KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK
NIQLEDGKMI LASNFFKGAA SSVLELTEAE LVTAEAVRSF WQRILPKVLE VEDSTDFFKS
GAASVDVVRL VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE
MAVNKRTVRM PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD
AFENGRWGKI SARDRGRLMY RLADLMEQHQ EELATIEALD AGAVYTLALK THVGMSIQTF
RYFAGWCDKI QGSTIPINQA RPNRNLTLTR KEPVGVCGII IPWNYPLMML SWKTAACLAA
GNTVVIKPAQ VTPLTALKFA ELTLKAGIPK GVVNVLPGSG SLVGQRLSDH PDVRKIGFTG
STEVGKHIMK SCAISNVKKV SLELGGKSPL IIFADCDLNK AVQMGMSSVF FNKGENCIAA
GRLFVEDSIH DEFVRRVVEE VRKMKVGNPL DRDTDHGPQN HHAHLVKLME YCQHGVKEGA
TLVCGGNQVP RPGFFFEPTV FTDVEDHMFI AKEESFGPVM IISRFADGDL DAVLSRANAT
EFGLASGVFT RDINKALYVS DKLQAGTVFV NTYNKTDVAA PFGGFKQSGF GKDLGEAALN
EYLRVKTVTF EY*
speed 1.28 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

polymorphism

 Model: simple_aae, prob: 0.999888887033312 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:125865766C>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH1L1
Ensembl transcript ID ENST00000452905
Genbank transcript ID NM_001270365
UniProt peptide O75891
alteration type single base exchange
alteration region CDS
DNA changes c.685G>T
cDNA.819G>T
g.51072G>T
AA changes V229F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 229
frameshift no
known variant Reference ID: rs2886059
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC18521594217794
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6260.349
0.9530.355
(flanking)-0.2210.347
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51069wt: 0.2705 / mu: 0.3236 (marginal change - not scored)wt: CATCAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTC
mu: CATCAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTC		 caga|GTGT
Donor increased51076wt: 0.51 / mu: 0.67wt: TGTTTGGCAGCGGAT
mu: TTTTTGGCAGCGGAT		 TTTG|gcag
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      229AELVTAEAVRSVWQRILPKVLEVE
mutated  not conserved    229AELVTAEAVRSFWQRILPKVLEV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000012488  332AELVTAEAVRSAWQRI
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030088  330EELATAEAVRSSWMRILP
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000006080  330EEGRFAEQMRAVWQSILS
Drerio  all identical  ENSDARG00000077004  331DENRFAEQMRVVWKSI
Dmelanogaster  all conserved  FBgn0032945  341DELVKRSLLAGIWKAILKE--DV
Celegans  all conserved  F36H1.6  340EEKSTVAKLKKIWTGIL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
226231TURNlost
234237STRANDmight get lost (downstream of altered splice site)
240249STRANDmight get lost (downstream of altered splice site)
258261STRANDmight get lost (downstream of altered splice site)
270273STRANDmight get lost (downstream of altered splice site)
276280STRANDmight get lost (downstream of altered splice site)
286293STRANDmight get lost (downstream of altered splice site)
299301STRANDmight get lost (downstream of altered splice site)
302304HELIXmight get lost (downstream of altered splice site)
320334HELIXmight get lost (downstream of altered splice site)
323392DOMAINAcyl carrier.might get lost (downstream of altered splice site)
347351HELIXmight get lost (downstream of altered splice site)
354354MOD_RESO-(pantetheine 4'-phosphoryl)serine (By similarity).might get lost (downstream of altered splice site)
356367HELIXmight get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
384397HELIXmight get lost (downstream of altered splice site)
417902REGIONAldehyde dehydrogenase.might get lost (downstream of altered splice site)
470470CONFLICTD -> G (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
571573NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
597600NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
613613MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
630635NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
650651NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
673673ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
677677CONFLICTK -> E (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
680680CONFLICTL -> F (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
702702CONFLICTN -> S (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
707707ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
757757BINDINGNADP (By similarity).might get lost (downstream of altered splice site)
804806NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2406 / 2406
position (AA) of stopcodon in wt / mu AA sequence 802 / 802
position of stopcodon in wt / mu cDNA 2540 / 2540
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 135 / 135
chromosome 3
strand -1
last intron/exon boundary 2485
theoretical NMD boundary in CDS 2300
length of CDS 2406
coding sequence (CDS) position 685
cDNA position
(for ins/del: last normal base / first normal base)		 819
gDNA position
(for ins/del: last normal base / first normal base)		 51072
chromosomal position
(for ins/del: last normal base / first normal base)		 125865766
original gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTCCCC
altered gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTCCCC
original cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTGTTTGGCAGCGGATCCTCCCC
altered cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTTTTTGGCAGCGGATCCTCCCC
wildtype AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIH
NWIRGNDKVP GAWTEACEQK LTFFNSTLNT SGLVPEGDAL PIPGAHRPGV VTKAGLILFG
NDDKMLLVKN IQLEDGKMIL ASNFFKGAAS SVLELTEAEL VTAEAVRSVW QRILPKVLEV
EDSTDFFKSG AASVDVVRLV EEVKELCDGL ELENEDVYMA STFGDFIQLL VRKLRGDDEE
GECSIDYVEM AVNKRTVRMP HQLFIGGEFV DAEGAKTSET INPTDGSVIC QVSLAQVTDV
DKAVAAAKDA FENGRWGKIS ARDRGRLMYR LADLMEQHQE ELATIEALDA GAVYTLALKT
HVGMSIQTFR YFAGWCDKIQ GSTIPINQAR PNRNLTLTRK EPVGVCGIII PWNYPLMMLS
WKTAACLAAG NTVVIKPAQV TPLTALKFAE LTLKAGIPKG VVNVLPGSGS LVGQRLSDHP
DVRKIGFTGS TEVGKHIMKS CAISNVKKVS LELGGKSPLI IFADCDLNKA VQMGMSSVFF
NKGENCIAAG RLFVEDSIHD EFVRRVVEEV RKMKVGNPLD RDTDHGPQNH HAHLVKLMEY
CQHGVKEGAT LVCGGNQVPR PGFFFEPTVF TDVEDHMFIA KEESFGPVMI ISRFADGDLD
AVLSRANATE FGLASGVFTR DINKALYVSD KLQAGTVFVN TYNKTDVAAP FGGFKQSGFG
KDLGEAALNE YLRVKTVTFE Y*
mutated AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIH
NWIRGNDKVP GAWTEACEQK LTFFNSTLNT SGLVPEGDAL PIPGAHRPGV VTKAGLILFG
NDDKMLLVKN IQLEDGKMIL ASNFFKGAAS SVLELTEAEL VTAEAVRSFW QRILPKVLEV
EDSTDFFKSG AASVDVVRLV EEVKELCDGL ELENEDVYMA STFGDFIQLL VRKLRGDDEE
GECSIDYVEM AVNKRTVRMP HQLFIGGEFV DAEGAKTSET INPTDGSVIC QVSLAQVTDV
DKAVAAAKDA FENGRWGKIS ARDRGRLMYR LADLMEQHQE ELATIEALDA GAVYTLALKT
HVGMSIQTFR YFAGWCDKIQ GSTIPINQAR PNRNLTLTRK EPVGVCGIII PWNYPLMMLS
WKTAACLAAG NTVVIKPAQV TPLTALKFAE LTLKAGIPKG VVNVLPGSGS LVGQRLSDHP
DVRKIGFTGS TEVGKHIMKS CAISNVKKVS LELGGKSPLI IFADCDLNKA VQMGMSSVFF
NKGENCIAAG RLFVEDSIHD EFVRRVVEEV RKMKVGNPLD RDTDHGPQNH HAHLVKLMEY
CQHGVKEGAT LVCGGNQVPR PGFFFEPTVF TDVEDHMFIA KEESFGPVMI ISRFADGDLD
AVLSRANATE FGLASGVFTR DINKALYVSD KLQAGTVFVN TYNKTDVAAP FGGFKQSGFG
KDLGEAALNE YLRVKTVTFE Y*
speed 0.48 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

polymorphism

 Model: simple_aae, prob: 0.999777550887883 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:125865766C>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH1L1
Ensembl transcript ID ENST00000472186
Genbank transcript ID N/A
UniProt peptide O75891
alteration type single base exchange
alteration region CDS
DNA changes c.988G>T
cDNA.1216G>T
g.51072G>T
AA changes V330F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 330
frameshift no
known variant Reference ID: rs2886059
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC18521594217794
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6260.349
0.9530.355
(flanking)-0.2210.347
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51069wt: 0.2705 / mu: 0.3236 (marginal change - not scored)wt: CATCAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTC
mu: CATCAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTC		 caga|GTGT
Donor increased51076wt: 0.51 / mu: 0.67wt: TGTTTGGCAGCGGAT
mu: TTTTTGGCAGCGGAT		 TTTG|gcag
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      330AELVTAEAVRSVWQRILPKVLEVE
mutated  not conserved    330AELVTAEAVRSFWQRILPKVLEV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000012488  332AELVTAEAVRSAWQRILPNVLEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030088  330EELATAEAVRSSWMRILPNVPEV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000006080  330EEGRFAEQMRAVWQSILSNVSRI
Drerio  all identical  ENSDARG00000077004  332DENRFAEQMRVVWKSILTNVEKI
Dmelanogaster  all conserved  FBgn0032945  341DELVKRSLLAGIWKAILKE--DV
Celegans  all conserved  F36H1.6  340EEKSTVAKLKKIWTGILKT--QV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
320334HELIXlost
323392DOMAINAcyl carrier.lost
347351HELIXmight get lost (downstream of altered splice site)
354354MOD_RESO-(pantetheine 4'-phosphoryl)serine (By similarity).might get lost (downstream of altered splice site)
356367HELIXmight get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
384397HELIXmight get lost (downstream of altered splice site)
417902REGIONAldehyde dehydrogenase.might get lost (downstream of altered splice site)
470470CONFLICTD -> G (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
571573NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
597600NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
613613MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
630635NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
650651NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
673673ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
677677CONFLICTK -> E (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
680680CONFLICTL -> F (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
702702CONFLICTN -> S (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
707707ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
757757BINDINGNADP (By similarity).might get lost (downstream of altered splice site)
804806NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2709 / 2709
position (AA) of stopcodon in wt / mu AA sequence 903 / 903
position of stopcodon in wt / mu cDNA 2937 / 2937
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 229 / 229
chromosome 3
strand -1
last intron/exon boundary 2882
theoretical NMD boundary in CDS 2603
length of CDS 2709
coding sequence (CDS) position 988
cDNA position
(for ins/del: last normal base / first normal base)		 1216
gDNA position
(for ins/del: last normal base / first normal base)		 51072
chromosomal position
(for ins/del: last normal base / first normal base)		 125865766
original gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTCCCC
altered gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTCCCC
original cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTGTTTGGCAGCGGATCCTCCCC
altered cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTTTTTGGCAGCGGATCCTCCCC
wildtype AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIN
WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP EGIKGMVQAV
RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV PGAWTEACEQ
KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK NIQLEDGKMI
LASNFFKGAA SSVLELTEAE LVTAEAVRSV WQRILPKVLE VEDSTDFFKS GAASVDVVRL
VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE MAVNKRTVRM
PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD AFENGRWGKI
SARDRGRLMY RLADLMEQHQ EELATIEALD AGAVYTLALK THVGMSIQTF RYFAGWCDKI
QGSTIPINQA RPNRNLTLTR KEPVGVCGII IPWNYPLMML SWKTAACLAA GNTVVIKPAQ
VTPLTALKFA ELTLKAGIPK GVVNVLPGSG SLVGQRLSDH PDVRKIGFTG STEVGKHIMK
SCAISNVKKV SLELGGKSPL IIFADCDLNK AVQMGMSSVF FNKGENCIAA GRLFVEDSIH
DEFVRRVVEE VRKMKVGNPL DRDTDHGPQN HHAHLVKLME YCQHGVKEGA TLVCGGNQVP
RPGFFFEPTV FTDVEDHMFI AKEESFGPVM IISRFADGDL DAVLSRANAT EFGLASGVFT
RDINKALYVS DKLQAGTVFV NTYNKTDVAA PFGGFKQSGF GKDLGEAALN EYLRVKTVTF
EY*
mutated AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIN
WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP EGIKGMVQAV
RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV PGAWTEACEQ
KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK NIQLEDGKMI
LASNFFKGAA SSVLELTEAE LVTAEAVRSF WQRILPKVLE VEDSTDFFKS GAASVDVVRL
VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE MAVNKRTVRM
PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD AFENGRWGKI
SARDRGRLMY RLADLMEQHQ EELATIEALD AGAVYTLALK THVGMSIQTF RYFAGWCDKI
QGSTIPINQA RPNRNLTLTR KEPVGVCGII IPWNYPLMML SWKTAACLAA GNTVVIKPAQ
VTPLTALKFA ELTLKAGIPK GVVNVLPGSG SLVGQRLSDH PDVRKIGFTG STEVGKHIMK
SCAISNVKKV SLELGGKSPL IIFADCDLNK AVQMGMSSVF FNKGENCIAA GRLFVEDSIH
DEFVRRVVEE VRKMKVGNPL DRDTDHGPQN HHAHLVKLME YCQHGVKEGA TLVCGGNQVP
RPGFFFEPTV FTDVEDHMFI AKEESFGPVM IISRFADGDL DAVLSRANAT EFGLASGVFT
RDINKALYVS DKLQAGTVFV NTYNKTDVAA PFGGFKQSGF GKDLGEAALN EYLRVKTVTF
EY*
speed 0.68 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

polymorphism

 Model: simple_aae, prob: 0.999777550887883 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:125865766C>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH1L1
Ensembl transcript ID ENST00000393434
Genbank transcript ID NM_012190
UniProt peptide O75891
alteration type single base exchange
alteration region CDS
DNA changes c.988G>T
cDNA.1338G>T
g.51072G>T
AA changes V330F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 330
frameshift no
known variant Reference ID: rs2886059
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC18521594217794
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6260.349
0.9530.355
(flanking)-0.2210.347
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51069wt: 0.2705 / mu: 0.3236 (marginal change - not scored)wt: CATCAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTC
mu: CATCAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTC		 caga|GTGT
Donor increased51076wt: 0.51 / mu: 0.67wt: TGTTTGGCAGCGGAT
mu: TTTTTGGCAGCGGAT		 TTTG|gcag
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      330AELVTAEAVRSVWQRILPKVLEVE
mutated  not conserved    330AELVTAEAVRSFWQRILPKVLEV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000012488  332AELVTAEAVRSAWQRILPNVLEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030088  330EELATAEAVRSSWMRILPNVPEV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000006080  330EEGRFAEQMRAVWQSILSNVSRI
Drerio  all identical  ENSDARG00000077004  332DENRFAEQMRVVWKSILTNVEKI
Dmelanogaster  all conserved  FBgn0032945  341DELVKRSLLAGIWKAILKE--DV
Celegans  all conserved  F36H1.6  340EEKSTVAKLKKIWTGILKT--QV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
320334HELIXlost
323392DOMAINAcyl carrier.lost
347351HELIXmight get lost (downstream of altered splice site)
354354MOD_RESO-(pantetheine 4'-phosphoryl)serine (By similarity).might get lost (downstream of altered splice site)
356367HELIXmight get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
384397HELIXmight get lost (downstream of altered splice site)
417902REGIONAldehyde dehydrogenase.might get lost (downstream of altered splice site)
470470CONFLICTD -> G (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
571573NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
597600NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
613613MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
630635NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
650651NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
673673ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
677677CONFLICTK -> E (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
680680CONFLICTL -> F (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
702702CONFLICTN -> S (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
707707ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
757757BINDINGNADP (By similarity).might get lost (downstream of altered splice site)
804806NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2709 / 2709
position (AA) of stopcodon in wt / mu AA sequence 903 / 903
position of stopcodon in wt / mu cDNA 3059 / 3059
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 351 / 351
chromosome 3
strand -1
last intron/exon boundary 3004
theoretical NMD boundary in CDS 2603
length of CDS 2709
coding sequence (CDS) position 988
cDNA position
(for ins/del: last normal base / first normal base)		 1338
gDNA position
(for ins/del: last normal base / first normal base)		 51072
chromosomal position
(for ins/del: last normal base / first normal base)		 125865766
original gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTCCCC
altered gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTCCCC
original cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTGTTTGGCAGCGGATCCTCCCC
altered cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTTTTTGGCAGCGGATCCTCCCC
wildtype AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIN
WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP EGIKGMVQAV
RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV PGAWTEACEQ
KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK NIQLEDGKMI
LASNFFKGAA SSVLELTEAE LVTAEAVRSV WQRILPKVLE VEDSTDFFKS GAASVDVVRL
VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE MAVNKRTVRM
PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD AFENGRWGKI
SARDRGRLMY RLADLMEQHQ EELATIEALD AGAVYTLALK THVGMSIQTF RYFAGWCDKI
QGSTIPINQA RPNRNLTLTR KEPVGVCGII IPWNYPLMML SWKTAACLAA GNTVVIKPAQ
VTPLTALKFA ELTLKAGIPK GVVNVLPGSG SLVGQRLSDH PDVRKIGFTG STEVGKHIMK
SCAISNVKKV SLELGGKSPL IIFADCDLNK AVQMGMSSVF FNKGENCIAA GRLFVEDSIH
DEFVRRVVEE VRKMKVGNPL DRDTDHGPQN HHAHLVKLME YCQHGVKEGA TLVCGGNQVP
RPGFFFEPTV FTDVEDHMFI AKEESFGPVM IISRFADGDL DAVLSRANAT EFGLASGVFT
RDINKALYVS DKLQAGTVFV NTYNKTDVAA PFGGFKQSGF GKDLGEAALN EYLRVKTVTF
EY*
mutated AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIN
WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP EGIKGMVQAV
RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV PGAWTEACEQ
KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK NIQLEDGKMI
LASNFFKGAA SSVLELTEAE LVTAEAVRSF WQRILPKVLE VEDSTDFFKS GAASVDVVRL
VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE MAVNKRTVRM
PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD AFENGRWGKI
SARDRGRLMY RLADLMEQHQ EELATIEALD AGAVYTLALK THVGMSIQTF RYFAGWCDKI
QGSTIPINQA RPNRNLTLTR KEPVGVCGII IPWNYPLMML SWKTAACLAA GNTVVIKPAQ
VTPLTALKFA ELTLKAGIPK GVVNVLPGSG SLVGQRLSDH PDVRKIGFTG STEVGKHIMK
SCAISNVKKV SLELGGKSPL IIFADCDLNK AVQMGMSSVF FNKGENCIAA GRLFVEDSIH
DEFVRRVVEE VRKMKVGNPL DRDTDHGPQN HHAHLVKLME YCQHGVKEGA TLVCGGNQVP
RPGFFFEPTV FTDVEDHMFI AKEESFGPVM IISRFADGDL DAVLSRANAT EFGLASGVFT
RDINKALYVS DKLQAGTVFV NTYNKTDVAA PFGGFKQSGF GKDLGEAALN EYLRVKTVTF
EY*
speed 0.90 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

polymorphism

 Model: simple_aae, prob: 0.999777550887883 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:125865766C>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH1L1
Ensembl transcript ID ENST00000393431
Genbank transcript ID N/A
UniProt peptide O75891
alteration type single base exchange
alteration region CDS
DNA changes c.988G>T
cDNA.1111G>T
g.51072G>T
AA changes V330F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 330
frameshift no
known variant Reference ID: rs2886059
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC18521594217794
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6260.349
0.9530.355
(flanking)-0.2210.347
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51069wt: 0.2705 / mu: 0.3236 (marginal change - not scored)wt: CATCAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTC
mu: CATCAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTC		 caga|GTGT
Donor increased51076wt: 0.51 / mu: 0.67wt: TGTTTGGCAGCGGAT
mu: TTTTTGGCAGCGGAT		 TTTG|gcag
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      330AELVTAEAVRSVWQRILPKVLEVE
mutated  not conserved    330AELVTAEAVRSFWQRILPKVLEV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000012488  332AELVTAEAVRSAWQRILPNVLEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030088  330EELATAEAVRSSWMRILPNVPEV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000006080  330EEGRFAEQMRAVWQSILSNVSRI
Drerio  all identical  ENSDARG00000077004  332DENRFAEQMRVVWKSILTNVEKI
Dmelanogaster  all conserved  FBgn0032945  341DELVKRSLLAGIWKAILKE--DV
Celegans  all conserved  F36H1.6  340EEKSTVAKLKKIWTGILK--TQV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
320334HELIXlost
323392DOMAINAcyl carrier.lost
347351HELIXmight get lost (downstream of altered splice site)
354354MOD_RESO-(pantetheine 4'-phosphoryl)serine (By similarity).might get lost (downstream of altered splice site)
356367HELIXmight get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
384397HELIXmight get lost (downstream of altered splice site)
417902REGIONAldehyde dehydrogenase.might get lost (downstream of altered splice site)
470470CONFLICTD -> G (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
571573NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
597600NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
613613MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
630635NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
650651NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
673673ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
677677CONFLICTK -> E (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
680680CONFLICTL -> F (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
702702CONFLICTN -> S (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
707707ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
757757BINDINGNADP (By similarity).might get lost (downstream of altered splice site)
804806NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1518 / 1518
position (AA) of stopcodon in wt / mu AA sequence 506 / 506
position of stopcodon in wt / mu cDNA 1641 / 1641
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 124 / 124
chromosome 3
strand -1
last intron/exon boundary 2526
theoretical NMD boundary in CDS 2352
length of CDS 1518
coding sequence (CDS) position 988
cDNA position
(for ins/del: last normal base / first normal base)		 1111
gDNA position
(for ins/del: last normal base / first normal base)		 51072
chromosomal position
(for ins/del: last normal base / first normal base)		 125865766
original gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTCCCC
altered gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTCCCC
original cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTGTTTGGCAGCGGATCCTCCCC
altered cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTTTTTGGCAGCGGATCCTCCCC
wildtype AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIN
WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP EGIKGMVQAV
RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV PGAWTEACEQ
KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK NIQLEDGKMI
LASNFFKGAA SSVLELTEAE LVTAEAVRSV WQRILPKVLE VEDSTDFFKS GAASVDVVRL
VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE MAVNKRTVRM
PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD AFENGRWGKI
SARDRGRLMY RAPPSPSTRP DPTAT*
mutated AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIN
WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP EGIKGMVQAV
RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV PGAWTEACEQ
KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK NIQLEDGKMI
LASNFFKGAA SSVLELTEAE LVTAEAVRSF WQRILPKVLE VEDSTDFFKS GAASVDVVRL
VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE MAVNKRTVRM
PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD AFENGRWGKI
SARDRGRLMY RAPPSPSTRP DPTAT*
speed 1.15 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

Problems