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: ENST00000367614
Querying Taster for transcript #2: ENST00000294848
Querying Taster for transcript #3: ENST00000444136
MT speed 0 s - this script 3.97133 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TDRD5polymorphism_automatic0.698999913836404simple_aaeaffectedR126Ssingle base exchangers61310274show file
TDRD5polymorphism_automatic0.698999913836404simple_aaeaffectedR126Ssingle base exchangers61310274show file
TDRD5polymorphism_automatic0.698999913836404simple_aaeaffectedR126Ssingle base exchangers61310274show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.301000086163596 (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) chr1:179562740G>CN/A show variant in all transcripts   IGV
HGNC symbol TDRD5
Ensembl transcript ID ENST00000367614
Genbank transcript ID NM_001199091
UniProt peptide Q8NAT2
alteration type single base exchange
alteration region CDS
DNA changes c.378G>C
cDNA.737G>C
g.1993G>C
AA changes R126S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 126
frameshift no
known variant Reference ID: rs61310274
databasehomozygous (C/C)heterozygousallele carriers
1000G2719991270
ExAC76921738325075
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4321
0.5941
(flanking)1.0321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1988wt: 0.25 / mu: 0.76wt: ACCGAGGAAGGGTTG
mu: ACCGAGGAAGCGTTG		 CGAG|gaag
Donor increased1985wt: 0.40 / mu: 0.73wt: CTTACCGAGGAAGGG
mu: CTTACCGAGGAAGCG		 TACC|gagg
Donor marginally increased1986wt: 0.9697 / mu: 0.9833 (marginal change - not scored)wt: TTACCGAGGAAGGGT
mu: TTACCGAGGAAGCGT		 ACCG|agga
Donor increased1991wt: 0.28 / mu: 0.59wt: GAGGAAGGGTTGCCC
mu: GAGGAAGCGTTGCCC		 GGAA|gggt
distance from splice site 146
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      126PRSHRRVPYRGRVAPILPAVVKSE
mutated  not conserved    126VPYRGSVAPILPAVVKS
Ptroglodytes  all identical  ENSPTRG00000001732  126VPYRGRVAPILPAVVKS
Mmulatta  all identical  ENSMMUG00000016033  126VPYRGRVAPILPAVVKS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000060985  121VPYRGRVPPILPAVVKS
Ggallus  no alignment  ENSGALG00000004138  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000071450  126LPRRGQAKPALPAHLRS
Dmelanogaster  no alignment  FBgn0027529  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000029942  121LVRRGRVSPVLPATVKS
protein features
start (aa)end (aa)featuredetails 
126126CONFLICTR -> S (in Ref. 3; AAI30533/AAI44059).lost
127202DOMAINHTH OST-type 2.might get lost (downstream of altered splice site)
195195MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
295369DOMAINHTH OST-type 3.might get lost (downstream of altered splice site)
525584DOMAINTudor.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2946 / 2946
position (AA) of stopcodon in wt / mu AA sequence 982 / 982
position of stopcodon in wt / mu cDNA 3305 / 3305
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 360 / 360
chromosome 1
strand 1
last intron/exon boundary 3058
theoretical NMD boundary in CDS 2648
length of CDS 2946
coding sequence (CDS) position 378
cDNA position
(for ins/del: last normal base / first normal base)		 737
gDNA position
(for ins/del: last normal base / first normal base)		 1993
chromosomal position
(for ins/del: last normal base / first normal base)		 179562740
original gDNA sequence snippet CGAGTACCTTACCGAGGAAGGGTTGCCCCTATTCTTCCAGC
altered gDNA sequence snippet CGAGTACCTTACCGAGGAAGCGTTGCCCCTATTCTTCCAGC
original cDNA sequence snippet CGAGTACCTTACCGAGGAAGGGTTGCCCCTATTCTTCCAGC
altered cDNA sequence snippet CGAGTACCTTACCGAGGAAGCGTTGCCCCTATTCTTCCAGC
wildtype AA sequence MSEQERIQEC LRKEIRSLLI STKDGLSPQE LEKEYLLMVG NHLPLRILGY RSTMELVLDM
PDVVRVCPGA GGTVILKAIP DESTKGIASL VAKQRSSHKL RNSMHKGRPS IYSGPRSHRR
VPYRGRVAPI LPAVVKSELK DLLALSPVLL SDFEKAFAKR FGRSFQYMQY GFLSMFEVLN
AASDVISVEQ TRAGSLLMLK KSVTEEKPRG CPAGKIFTQP FRMKQGSYST GFPVAKPCFS
QPTSNMEPPK QIMSMEKTSK LNVVETSRLN HTEKLNQLEN TFKSVIAQIG PGGTISSELK
HKIKFVVSKF PEGLFISKLL GEYEVIFKEQ LSPKKLGFLN VTELVGALSD ILHVEFRKGH
QDLLVFDADK KPLPPVQSDK KIEAKACVSS PPRNSLSTAA VKETVWNCPS KKQKEPQQKI
CKKPNLVVKP LQLQVETNKS ELNLAMANHD IPPDAVPNKK LCRLPPLDTS SLIGVFVEYI
ISPSQFYIRI YSRDSSELLE DMMIEMRRCY SNQLVSDRYV MPECFIQPGH LCCVRISEDK
WWYRVIIHRV LEKQEVEVFY PDFGNIGIVQ KSSLRFLKCC YTKLPAQAIP CSLAWVRPVE
EHWTSKAILQ FQKLCGLKPL VGVVDEYVDG ILNIFLCDTS SNEDVYFHHV LRTEGHAIVC
RENISSKGFS ELNPLALYTT SSGGPEDIVL TELGYPSQQH YFNEDRKISP QSKESELRIL
DEIPTGMPCL ESVTIGDDIW DENWLPLQAK MGKGGDAASH LFTASLGGKN QYSSCKEMPQ
KDWCFSTPKD TWDDSWQPSG LVNGTKVEVH KPEVLGAQEK NTGTNRTQKQ LDINGSSDSS
TLPKLEEFCT SLTQSEQSAD GSQSEPNNSQ TQPKQIQLST AAPCSTTAVD DSAEKPSGSV
ESSPEILKNE DFSSSRAITL YKDKRQESVD QLSLILSYEC QISQKLYIPR STATAALGAA
ARLATSRSLL HWYPSVKRME A*
mutated AA sequence MSEQERIQEC LRKEIRSLLI STKDGLSPQE LEKEYLLMVG NHLPLRILGY RSTMELVLDM
PDVVRVCPGA GGTVILKAIP DESTKGIASL VAKQRSSHKL RNSMHKGRPS IYSGPRSHRR
VPYRGSVAPI LPAVVKSELK DLLALSPVLL SDFEKAFAKR FGRSFQYMQY GFLSMFEVLN
AASDVISVEQ TRAGSLLMLK KSVTEEKPRG CPAGKIFTQP FRMKQGSYST GFPVAKPCFS
QPTSNMEPPK QIMSMEKTSK LNVVETSRLN HTEKLNQLEN TFKSVIAQIG PGGTISSELK
HKIKFVVSKF PEGLFISKLL GEYEVIFKEQ LSPKKLGFLN VTELVGALSD ILHVEFRKGH
QDLLVFDADK KPLPPVQSDK KIEAKACVSS PPRNSLSTAA VKETVWNCPS KKQKEPQQKI
CKKPNLVVKP LQLQVETNKS ELNLAMANHD IPPDAVPNKK LCRLPPLDTS SLIGVFVEYI
ISPSQFYIRI YSRDSSELLE DMMIEMRRCY SNQLVSDRYV MPECFIQPGH LCCVRISEDK
WWYRVIIHRV LEKQEVEVFY PDFGNIGIVQ KSSLRFLKCC YTKLPAQAIP CSLAWVRPVE
EHWTSKAILQ FQKLCGLKPL VGVVDEYVDG ILNIFLCDTS SNEDVYFHHV LRTEGHAIVC
RENISSKGFS ELNPLALYTT SSGGPEDIVL TELGYPSQQH YFNEDRKISP QSKESELRIL
DEIPTGMPCL ESVTIGDDIW DENWLPLQAK MGKGGDAASH LFTASLGGKN QYSSCKEMPQ
KDWCFSTPKD TWDDSWQPSG LVNGTKVEVH KPEVLGAQEK NTGTNRTQKQ LDINGSSDSS
TLPKLEEFCT SLTQSEQSAD GSQSEPNNSQ TQPKQIQLST AAPCSTTAVD DSAEKPSGSV
ESSPEILKNE DFSSSRAITL YKDKRQESVD QLSLILSYEC QISQKLYIPR STATAALGAA
ARLATSRSLL HWYPSVKRME A*
speed 1.00 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: 0.301000086163596 (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) chr1:179562740G>CN/A show variant in all transcripts   IGV
HGNC symbol TDRD5
Ensembl transcript ID ENST00000294848
Genbank transcript ID NM_001199092
UniProt peptide Q8NAT2
alteration type single base exchange
alteration region CDS
DNA changes c.378G>C
cDNA.628G>C
g.1993G>C
AA changes R126S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 126
frameshift no
known variant Reference ID: rs61310274
databasehomozygous (C/C)heterozygousallele carriers
1000G2719991270
ExAC76921738325075
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4321
0.5941
(flanking)1.0321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1988wt: 0.25 / mu: 0.76wt: ACCGAGGAAGGGTTG
mu: ACCGAGGAAGCGTTG		 CGAG|gaag
Donor increased1985wt: 0.40 / mu: 0.73wt: CTTACCGAGGAAGGG
mu: CTTACCGAGGAAGCG		 TACC|gagg
Donor marginally increased1986wt: 0.9697 / mu: 0.9833 (marginal change - not scored)wt: TTACCGAGGAAGGGT
mu: TTACCGAGGAAGCGT		 ACCG|agga
Donor increased1991wt: 0.28 / mu: 0.59wt: GAGGAAGGGTTGCCC
mu: GAGGAAGCGTTGCCC		 GGAA|gggt
distance from splice site 146
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      126PRSHRRVPYRGRVAPILPAVVKSE
mutated  not conserved    126VPYRGSVAPILPAVVKS
Ptroglodytes  all identical  ENSPTRG00000001732  126VPYRGRVAPILPAVVKS
Mmulatta  all identical  ENSMMUG00000016033  126VPYRGRVAPILPAVVKS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000060985  121VPYRGRVPPILPAVVKS
Ggallus  no alignment  ENSGALG00000004138  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000071450  126LPRRGQAKPALPAHLRS
Dmelanogaster  no alignment  FBgn0027529  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000029942  121LVRRGRVSPVLPATVKS
protein features
start (aa)end (aa)featuredetails 
126126CONFLICTR -> S (in Ref. 3; AAI30533/AAI44059).lost
127202DOMAINHTH OST-type 2.might get lost (downstream of altered splice site)
195195MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
295369DOMAINHTH OST-type 3.might get lost (downstream of altered splice site)
525584DOMAINTudor.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2946 / 2946
position (AA) of stopcodon in wt / mu AA sequence 982 / 982
position of stopcodon in wt / mu cDNA 3196 / 3196
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 251 / 251
chromosome 1
strand 1
last intron/exon boundary 2949
theoretical NMD boundary in CDS 2648
length of CDS 2946
coding sequence (CDS) position 378
cDNA position
(for ins/del: last normal base / first normal base)		 628
gDNA position
(for ins/del: last normal base / first normal base)		 1993
chromosomal position
(for ins/del: last normal base / first normal base)		 179562740
original gDNA sequence snippet CGAGTACCTTACCGAGGAAGGGTTGCCCCTATTCTTCCAGC
altered gDNA sequence snippet CGAGTACCTTACCGAGGAAGCGTTGCCCCTATTCTTCCAGC
original cDNA sequence snippet CGAGTACCTTACCGAGGAAGGGTTGCCCCTATTCTTCCAGC
altered cDNA sequence snippet CGAGTACCTTACCGAGGAAGCGTTGCCCCTATTCTTCCAGC
wildtype AA sequence MSEQERIQEC LRKEIRSLLI STKDGLSPQE LEKEYLLMVG NHLPLRILGY RSTMELVLDM
PDVVRVCPGA GGTVILKAIP DESTKGIASL VAKQRSSHKL RNSMHKGRPS IYSGPRSHRR
VPYRGRVAPI LPAVVKSELK DLLALSPVLL SDFEKAFAKR FGRSFQYMQY GFLSMFEVLN
AASDVISVEQ TRAGSLLMLK KSVTEEKPRG CPAGKIFTQP FRMKQGSYST GFPVAKPCFS
QPTSNMEPPK QIMSMEKTSK LNVVETSRLN HTEKLNQLEN TFKSVIAQIG PGGTISSELK
HKIKFVVSKF PEGLFISKLL GEYEVIFKEQ LSPKKLGFLN VTELVGALSD ILHVEFRKGH
QDLLVFDADK KPLPPVQSDK KIEAKACVSS PPRNSLSTAA VKETVWNCPS KKQKEPQQKI
CKKPNLVVKP LQLQVETNKS ELNLAMANHD IPPDAVPNKK LCRLPPLDTS SLIGVFVEYI
ISPSQFYIRI YSRDSSELLE DMMIEMRRCY SNQLVSDRYV MPECFIQPGH LCCVRISEDK
WWYRVIIHRV LEKQEVEVFY PDFGNIGIVQ KSSLRFLKCC YTKLPAQAIP CSLAWVRPVE
EHWTSKAILQ FQKLCGLKPL VGVVDEYVDG ILNIFLCDTS SNEDVYFHHV LRTEGHAIVC
RENISSKGFS ELNPLALYTT SSGGPEDIVL TELGYPSQQH YFNEDRKISP QSKESELRIL
DEIPTGMPCL ESVTIGDDIW DENWLPLQAK MGKGGDAASH LFTASLGGKN QYSSCKEMPQ
KDWCFSTPKD TWDDSWQPSG LVNGTKVEVH KPEVLGAQEK NTGTNRTQKQ LDINGSSDSS
TLPKLEEFCT SLTQSEQSAD GSQSEPNNSQ TQPKQIQLST AAPCSTTAVD DSAEKPSGSV
ESSPEILKNE DFSSSRAITL YKDKRQESVD QLSLILSYEC QISQKLYIPR STATAALGAA
ARLATSRSLL HWYPSVKRME A*
mutated AA sequence MSEQERIQEC LRKEIRSLLI STKDGLSPQE LEKEYLLMVG NHLPLRILGY RSTMELVLDM
PDVVRVCPGA GGTVILKAIP DESTKGIASL VAKQRSSHKL RNSMHKGRPS IYSGPRSHRR
VPYRGSVAPI LPAVVKSELK DLLALSPVLL SDFEKAFAKR FGRSFQYMQY GFLSMFEVLN
AASDVISVEQ TRAGSLLMLK KSVTEEKPRG CPAGKIFTQP FRMKQGSYST GFPVAKPCFS
QPTSNMEPPK QIMSMEKTSK LNVVETSRLN HTEKLNQLEN TFKSVIAQIG PGGTISSELK
HKIKFVVSKF PEGLFISKLL GEYEVIFKEQ LSPKKLGFLN VTELVGALSD ILHVEFRKGH
QDLLVFDADK KPLPPVQSDK KIEAKACVSS PPRNSLSTAA VKETVWNCPS KKQKEPQQKI
CKKPNLVVKP LQLQVETNKS ELNLAMANHD IPPDAVPNKK LCRLPPLDTS SLIGVFVEYI
ISPSQFYIRI YSRDSSELLE DMMIEMRRCY SNQLVSDRYV MPECFIQPGH LCCVRISEDK
WWYRVIIHRV LEKQEVEVFY PDFGNIGIVQ KSSLRFLKCC YTKLPAQAIP CSLAWVRPVE
EHWTSKAILQ FQKLCGLKPL VGVVDEYVDG ILNIFLCDTS SNEDVYFHHV LRTEGHAIVC
RENISSKGFS ELNPLALYTT SSGGPEDIVL TELGYPSQQH YFNEDRKISP QSKESELRIL
DEIPTGMPCL ESVTIGDDIW DENWLPLQAK MGKGGDAASH LFTASLGGKN QYSSCKEMPQ
KDWCFSTPKD TWDDSWQPSG LVNGTKVEVH KPEVLGAQEK NTGTNRTQKQ LDINGSSDSS
TLPKLEEFCT SLTQSEQSAD GSQSEPNNSQ TQPKQIQLST AAPCSTTAVD DSAEKPSGSV
ESSPEILKNE DFSSSRAITL YKDKRQESVD QLSLILSYEC QISQKLYIPR STATAALGAA
ARLATSRSLL HWYPSVKRME A*
speed 0.81 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: 0.301000086163596 (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) chr1:179562740G>CN/A show variant in all transcripts   IGV
HGNC symbol TDRD5
Ensembl transcript ID ENST00000444136
Genbank transcript ID NM_001199085
UniProt peptide Q8NAT2
alteration type single base exchange
alteration region CDS
DNA changes c.378G>C
cDNA.628G>C
g.1993G>C
AA changes R126S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 126
frameshift no
known variant Reference ID: rs61310274
databasehomozygous (C/C)heterozygousallele carriers
1000G2719991270
ExAC76921738325075
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4321
0.5941
(flanking)1.0321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1988wt: 0.25 / mu: 0.76wt: ACCGAGGAAGGGTTG
mu: ACCGAGGAAGCGTTG		 CGAG|gaag
Donor increased1985wt: 0.40 / mu: 0.73wt: CTTACCGAGGAAGGG
mu: CTTACCGAGGAAGCG		 TACC|gagg
Donor marginally increased1986wt: 0.9697 / mu: 0.9833 (marginal change - not scored)wt: TTACCGAGGAAGGGT
mu: TTACCGAGGAAGCGT		 ACCG|agga
Donor increased1991wt: 0.28 / mu: 0.59wt: GAGGAAGGGTTGCCC
mu: GAGGAAGCGTTGCCC		 GGAA|gggt
distance from splice site 146
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      126PRSHRRVPYRGRVAPILPAVVKSE
mutated  not conserved    126VPYRGSVAPILPAVVKS
Ptroglodytes  all identical  ENSPTRG00000001732  126VPYRGRVAPILPAVVKS
Mmulatta  all identical  ENSMMUG00000016033  126VPYRGRVAPILPAVVKS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000060985  121VPYRGRVPPILPAVVKS
Ggallus  no alignment  ENSGALG00000004138  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000071450  126LPRRGQAKPALPAHLRS
Dmelanogaster  no alignment  FBgn0027529  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000029942  121LVRRGRVSPVLPATVKS
protein features
start (aa)end (aa)featuredetails 
126126CONFLICTR -> S (in Ref. 3; AAI30533/AAI44059).lost
127202DOMAINHTH OST-type 2.might get lost (downstream of altered splice site)
195195MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
295369DOMAINHTH OST-type 3.might get lost (downstream of altered splice site)
525584DOMAINTudor.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3108 / 3108
position (AA) of stopcodon in wt / mu AA sequence 1036 / 1036
position of stopcodon in wt / mu cDNA 3358 / 3358
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 251 / 251
chromosome 1
strand 1
last intron/exon boundary 3111
theoretical NMD boundary in CDS 2810
length of CDS 3108
coding sequence (CDS) position 378
cDNA position
(for ins/del: last normal base / first normal base)		 628
gDNA position
(for ins/del: last normal base / first normal base)		 1993
chromosomal position
(for ins/del: last normal base / first normal base)		 179562740
original gDNA sequence snippet CGAGTACCTTACCGAGGAAGGGTTGCCCCTATTCTTCCAGC
altered gDNA sequence snippet CGAGTACCTTACCGAGGAAGCGTTGCCCCTATTCTTCCAGC
original cDNA sequence snippet CGAGTACCTTACCGAGGAAGGGTTGCCCCTATTCTTCCAGC
altered cDNA sequence snippet CGAGTACCTTACCGAGGAAGCGTTGCCCCTATTCTTCCAGC
wildtype AA sequence MSEQERIQEC LRKEIRSLLI STKDGLSPQE LEKEYLLMVG NHLPLRILGY RSTMELVLDM
PDVVRVCPGA GGTVILKAIP DESTKGIASL VAKQRSSHKL RNSMHKGRPS IYSGPRSHRR
VPYRGRVAPI LPAVVKSELK DLLALSPVLL SDFEKAFAKR FGRSFQYMQY GFLSMFEVLN
AASDVISVEQ TRAGSLLMLK KSVTEEKPRG CPAGKIFTQP FRMKQGSYST GFPVAKPCFS
QPTSNMEPPK QIMSMEKTSK LNVVETSRLN HTEKLNQLEN TFKSVIAQIG PGGTISSELK
HKIKFVVSKF PEGLFISKLL GEYEVIFKEQ LSPKKLGFLN VTELVGALSD ILHVEFRKGH
QDLLVFDADK KPLPPVQSDK KIEAKACVSS PPRNSLSTAA VKETVWNCPS KKQKEPQQKI
CKKPNLVVKP LQLQVETNKS ELNLAMANHD IPPDAVPNKK LCRLPPLDTS SLIGVFVEYI
ISPSQFYIRI YSRDSSELLE DMMIEMRRCY SNQLVSDRYV MPECFIQPGH LCCVRISEDK
WWYRVIIHRV LEKQEVEVFY PDFGNIGIVQ KSSLRFLKCC YTKLPAQAIP CSLAWVRPVE
EHWTSKAILQ FQKLCGLKPL VGVVDEYVDG ILNIFLCDTS SNEDVYFHHV LRTEGHAIVC
RENISSKGFS ELNPLALYTT SSGGPEDIVL TELGYPSQQH YFNEDRKISP QSKESELRIL
QDINDEKSLS HLKSESKEPL KDSEFESLKT CNKSFEEDPK WSNPEPNDLK EENEDEIPTG
MPCLESVTIG DDIWDENWLP LQAKMGKGGD AASHLFTASL GGKNQYSSCK EMPQKDWCFS
TPKDTWDDSW QPSGLVNGTK VEVHKPEVLG AQEKNTGTNR TQKQLDINGS SDSSTLPKLE
EFCTSLTQSE QSADGSQSEP NNSQTQPKQI QLSTAAPCST TAVDDSAEKP SGSVESSPEI
LKNEDFSSSR AITLYKDKRQ ESVDQLSLIL SYECQISQKL YIPRSTATAA LGAAARLATS
RSLLHWYPSV KRMEA*
mutated AA sequence MSEQERIQEC LRKEIRSLLI STKDGLSPQE LEKEYLLMVG NHLPLRILGY RSTMELVLDM
PDVVRVCPGA GGTVILKAIP DESTKGIASL VAKQRSSHKL RNSMHKGRPS IYSGPRSHRR
VPYRGSVAPI LPAVVKSELK DLLALSPVLL SDFEKAFAKR FGRSFQYMQY GFLSMFEVLN
AASDVISVEQ TRAGSLLMLK KSVTEEKPRG CPAGKIFTQP FRMKQGSYST GFPVAKPCFS
QPTSNMEPPK QIMSMEKTSK LNVVETSRLN HTEKLNQLEN TFKSVIAQIG PGGTISSELK
HKIKFVVSKF PEGLFISKLL GEYEVIFKEQ LSPKKLGFLN VTELVGALSD ILHVEFRKGH
QDLLVFDADK KPLPPVQSDK KIEAKACVSS PPRNSLSTAA VKETVWNCPS KKQKEPQQKI
CKKPNLVVKP LQLQVETNKS ELNLAMANHD IPPDAVPNKK LCRLPPLDTS SLIGVFVEYI
ISPSQFYIRI YSRDSSELLE DMMIEMRRCY SNQLVSDRYV MPECFIQPGH LCCVRISEDK
WWYRVIIHRV LEKQEVEVFY PDFGNIGIVQ KSSLRFLKCC YTKLPAQAIP CSLAWVRPVE
EHWTSKAILQ FQKLCGLKPL VGVVDEYVDG ILNIFLCDTS SNEDVYFHHV LRTEGHAIVC
RENISSKGFS ELNPLALYTT SSGGPEDIVL TELGYPSQQH YFNEDRKISP QSKESELRIL
QDINDEKSLS HLKSESKEPL KDSEFESLKT CNKSFEEDPK WSNPEPNDLK EENEDEIPTG
MPCLESVTIG DDIWDENWLP LQAKMGKGGD AASHLFTASL GGKNQYSSCK EMPQKDWCFS
TPKDTWDDSW QPSGLVNGTK VEVHKPEVLG AQEKNTGTNR TQKQLDINGS SDSSTLPKLE
EFCTSLTQSE QSADGSQSEP NNSQTQPKQI QLSTAAPCST TAVDDSAEKP SGSVESSPEI
LKNEDFSSSR AITLYKDKRQ ESVDQLSLIL SYECQISQKL YIPRSTATAA LGAAARLATS
RSLLHWYPSV KRMEA*
speed 0.91 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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