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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000334268
Querying Taster for transcript #2: ENST00000398178
Querying Taster for transcript #3: ENST00000546248
Querying Taster for transcript #4: ENST00000542443
MT speed 0 s - this script 5.493446 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TRDNpolymorphism_automatic5.38580410269773e-08simple_aaeaffectedT128Ssingle base exchangers9490809show file
TRDNpolymorphism_automatic2.23538226040709e-07simple_aaeaffectedT128Ssingle base exchangers9490809show file
TRDNpolymorphism_automatic2.39802036905434e-06simple_aaeaffectedT128Ssingle base exchangers9490809show file
TRDNpolymorphism_automatic2.39802036905434e-06simple_aaeaffectedT128Ssingle base exchangers9490809show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999946141959 (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) chr6:123869607G>CN/A show variant in all transcripts   IGV
HGNC symbol TRDN
Ensembl transcript ID ENST00000546248
Genbank transcript ID NM_001256020
UniProt peptide Q13061
alteration type single base exchange
alteration region CDS
DNA changes c.383C>G
cDNA.517C>G
g.88632C>G
AA changes T128S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
128
frameshift no
known variant Reference ID: rs9490809
databasehomozygous (C/C)heterozygousallele carriers
1000G48210041486
ExAC87331530124034
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0160.857
0.3140.868
(flanking)0.9930.882
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained886310.79mu: AAGATAGTGATAAAG GATA|gtga
Donor gained886260.90mu: TGACGAAGATAGTGA ACGA|agat
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      128EDEEDDDGDEDTDKGEIDEPPLRK
mutated  all conserved    128DDDGDEDSDKGEIDEPPLR
Ptroglodytes  not conserved  ENSPTRG00000018567  186KDEKKEDSKKTKKPAEVEQPKGK
Mmulatta  not conserved  ENSMMUG00000009725  20EKIEKKEKPETKTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000019787  129DDEDADEDIDKGEIEEPPLK
Ggallus  not conserved  ENSGALG00000014848  127SDEGIHNQNKGEIMKPPLE
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
69729TOPO_DOMLumenal.lost
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
409409MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
647647CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
678678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
680680MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
691691DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
691691DISULFIDInterchain (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 894 / 894
position (AA) of stopcodon in wt / mu AA sequence 298 / 298
position of stopcodon in wt / mu cDNA 1028 / 1028
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 6
strand -1
last intron/exon boundary 928
theoretical NMD boundary in CDS 743
length of CDS 894
coding sequence (CDS) position 383
cDNA position
(for ins/del: last normal base / first normal base)
517
gDNA position
(for ins/del: last normal base / first normal base)
88632
chromosomal position
(for ins/del: last normal base / first normal base)
123869607
original gDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGTACAAAGAACA
altered gDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGTACAAAGAACA
original cDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGAGAAATAGATG
altered cDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGAGAAATAGATG
wildtype AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDTDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KVTHKEKEKG KEKVREKEKP
EKKATHKEKI EKKEKPETKT LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV
QKTPSKPKEK EDKEKAAVSK HEQKGQSPAI PPPLPTEQAS RPTPASPALE GKYFFFS*
mutated AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDSDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KVTHKEKEKG KEKVREKEKP
EKKATHKEKI EKKEKPETKT LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV
QKTPSKPKEK EDKEKAAVSK HEQKGQSPAI PPPLPTEQAS RPTPASPALE GKYFFFS*
speed 0.88 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: 0.999999776461774 (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) chr6:123869607G>CN/A show variant in all transcripts   IGV
HGNC symbol TRDN
Ensembl transcript ID ENST00000542443
Genbank transcript ID NM_001256022
UniProt peptide Q13061
alteration type single base exchange
alteration region CDS
DNA changes c.383C>G
cDNA.580C>G
g.88632C>G
AA changes T128S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
128
frameshift no
known variant Reference ID: rs9490809
databasehomozygous (C/C)heterozygousallele carriers
1000G48210041486
ExAC87331530124034
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0160.857
0.3140.868
(flanking)0.9930.882
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained886310.79mu: AAGATAGTGATAAAG GATA|gtga
Donor gained886260.90mu: TGACGAAGATAGTGA ACGA|agat
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      128EDEEDDDGDEDTDKGEIDEPPLRK
mutated  all conserved    128DDDGDEDSDKGEIDEPPLR
Ptroglodytes  not conserved  ENSPTRG00000018567  186KDEKKEDSKKTKKPAEVEQPKGK
Mmulatta  no alignment  ENSMMUG00000009725  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000019787  129DDEDADEDIDKGEIEEPPLK
Ggallus  not conserved  ENSGALG00000014848  127SDEGIHNQNKGEIMKPPLE
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
69729TOPO_DOMLumenal.lost
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
409409MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
647647CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
678678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
680680MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
691691DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
691691DISULFIDInterchain (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 504 / 504
position (AA) of stopcodon in wt / mu AA sequence 168 / 168
position of stopcodon in wt / mu cDNA 701 / 701
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 198 / 198
chromosome 6
strand -1
last intron/exon boundary 682
theoretical NMD boundary in CDS 434
length of CDS 504
coding sequence (CDS) position 383
cDNA position
(for ins/del: last normal base / first normal base)
580
gDNA position
(for ins/del: last normal base / first normal base)
88632
chromosomal position
(for ins/del: last normal base / first normal base)
123869607
original gDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGTACAAAGAACA
altered gDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGTACAAAGAACA
original cDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGAGAAATAGATG
altered cDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGAGAAATAGATG
wildtype AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDTDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KEVGHSS*
mutated AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDSDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KEVGHSS*
speed 1.25 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: 0.999997601979631 (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) chr6:123869607G>CN/A show variant in all transcripts   IGV
HGNC symbol TRDN
Ensembl transcript ID ENST00000334268
Genbank transcript ID N/A
UniProt peptide Q13061
alteration type single base exchange
alteration region CDS
DNA changes c.383C>G
cDNA.701C>G
g.88632C>G
AA changes T128S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
128
frameshift no
known variant Reference ID: rs9490809
databasehomozygous (C/C)heterozygousallele carriers
1000G48210041486
ExAC87331530124034
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0160.857
0.3140.868
(flanking)0.9930.882
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained886310.79mu: AAGATAGTGATAAAG GATA|gtga
Donor gained886260.90mu: TGACGAAGATAGTGA ACGA|agat
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      128EDEEDDDGDEDTDKGEIDEPPLRK
mutated  all conserved    128DDDGDEDSDKGEIDEPPLR
Ptroglodytes  no alignment  ENSPTRG00000018567  n/a
Mmulatta  no alignment  ENSMMUG00000009725  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000019787  129DDEDADEDIDKGEIEEPPLK
Ggallus  not conserved  ENSGALG00000014848  127SDEGIHNQNKGEIMKPPLE
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
69729TOPO_DOMLumenal.lost
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
409409MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
647647CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
678678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
680680MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
691691DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
691691DISULFIDInterchain (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 2166 / 2166
position (AA) of stopcodon in wt / mu AA sequence 722 / 722
position of stopcodon in wt / mu cDNA 2484 / 2484
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 6
strand -1
last intron/exon boundary 2345
theoretical NMD boundary in CDS 1976
length of CDS 2166
coding sequence (CDS) position 383
cDNA position
(for ins/del: last normal base / first normal base)
701
gDNA position
(for ins/del: last normal base / first normal base)
88632
chromosomal position
(for ins/del: last normal base / first normal base)
123869607
original gDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGTACAAAGAACA
altered gDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGTACAAAGAACA
original cDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGAGAAATAGATG
altered cDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGAGAAATAGATG
wildtype AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDTDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KVTHKEKEKG KEKVREKEKP
EKKATHKEKI EKKEKPETKT LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV
QKTPSKPKEK EDKEKAAVSK HEQKDQYAFC RYMIDIFVHG DLKPGQSPAI PPPLPTEQAS
RPTPASPALE EKEGEKKKAE KKVTSETKKK EKEDIKKKSE KETAIDVEKK EPGKASETKQ
GTVKIAAQAA AKKDEKKEDS KKTKKPAEVE QPKGKKQEKK EKHVEPAKSP KKEHSVPSDK
QVKAKTERAK EEIGAVSIKK AVPGKKEEKT TKTVEQEIRK EKSGKTSSIL KDKEPIKGKE
EKVPASLKEK EPETKKDEKM SKAGKEVKPK PPQLQGKKEE KPEPQIKKEA KPAISEKVQI
HKQDIVKPEK TVSHGKPEEK VLKQVKAVTI EKTAKPKPTK KAEHREREPP SIKTDKPKPT
PKGTSEVTES GKKKTEISEK ESKEKADMKH LREEKVSTRK ESLQLHNVTK EDVEDVPASK
KAKEGTEDVS PTKQKSPISF FQCVYLDGYN GYGFQFPFTP ADRPGESSGQ ANSPGQKQQG
Q*
mutated AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDSDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KVTHKEKEKG KEKVREKEKP
EKKATHKEKI EKKEKPETKT LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV
QKTPSKPKEK EDKEKAAVSK HEQKDQYAFC RYMIDIFVHG DLKPGQSPAI PPPLPTEQAS
RPTPASPALE EKEGEKKKAE KKVTSETKKK EKEDIKKKSE KETAIDVEKK EPGKASETKQ
GTVKIAAQAA AKKDEKKEDS KKTKKPAEVE QPKGKKQEKK EKHVEPAKSP KKEHSVPSDK
QVKAKTERAK EEIGAVSIKK AVPGKKEEKT TKTVEQEIRK EKSGKTSSIL KDKEPIKGKE
EKVPASLKEK EPETKKDEKM SKAGKEVKPK PPQLQGKKEE KPEPQIKKEA KPAISEKVQI
HKQDIVKPEK TVSHGKPEEK VLKQVKAVTI EKTAKPKPTK KAEHREREPP SIKTDKPKPT
PKGTSEVTES GKKKTEISEK ESKEKADMKH LREEKVSTRK ESLQLHNVTK EDVEDVPASK
KAKEGTEDVS PTKQKSPISF FQCVYLDGYN GYGFQFPFTP ADRPGESSGQ ANSPGQKQQG
Q*
speed 1.20 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: 0.999997601979631 (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) chr6:123869607G>CN/A show variant in all transcripts   IGV
HGNC symbol TRDN
Ensembl transcript ID ENST00000398178
Genbank transcript ID NM_006073
UniProt peptide Q13061
alteration type single base exchange
alteration region CDS
DNA changes c.383C>G
cDNA.405C>G
g.88632C>G
AA changes T128S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
128
frameshift no
known variant Reference ID: rs9490809
databasehomozygous (C/C)heterozygousallele carriers
1000G48210041486
ExAC87331530124034
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0160.857
0.3140.868
(flanking)0.9930.882
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained886310.79mu: AAGATAGTGATAAAG GATA|gtga
Donor gained886260.90mu: TGACGAAGATAGTGA ACGA|agat
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      128EDEEDDDGDEDTDKGEIDEPPLRK
mutated  all conserved    128DDDGDEDSDKGEIDEPPLR
Ptroglodytes  no alignment  ENSPTRG00000018567  n/a
Mmulatta  no alignment  ENSMMUG00000009725  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000019787  129DDEDADEDIDKGEIEEPPLK
Ggallus  not conserved  ENSGALG00000014848  127SDEGIHNQNKGEIMKPPLE
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
69729TOPO_DOMLumenal.lost
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
409409MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
647647CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
678678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
680680MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
691691DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
691691DISULFIDInterchain (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 2190 / 2190
position (AA) of stopcodon in wt / mu AA sequence 730 / 730
position of stopcodon in wt / mu cDNA 2212 / 2212
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 23 / 23
chromosome 6
strand -1
last intron/exon boundary 2073
theoretical NMD boundary in CDS 2000
length of CDS 2190
coding sequence (CDS) position 383
cDNA position
(for ins/del: last normal base / first normal base)
405
gDNA position
(for ins/del: last normal base / first normal base)
88632
chromosomal position
(for ins/del: last normal base / first normal base)
123869607
original gDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGTACAAAGAACA
altered gDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGTACAAAGAACA
original cDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGAGAAATAGATG
altered cDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGAGAAATAGATG
wildtype AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDTDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KVTHKEKEKG KEKVREKEKP
EKKATHKEKI EKKEKPETKT LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV
QKTPSKPKEK EDKEKAAVSK HEQKDQYAFC RYMIDIFVHG DLKPGQSPAI PPPLPTEQAS
RPTPASPALE EKEGEKKKAE KKVTSETKKK EKEDIKKKSE KETAIDVEKK EPGKASETKQ
GTVKIAAQAA AKKDEKKEDS KKTKKPAEVE QPKGKKQEKK EKHVEPAKSP KKEHSVPSDK
QVKAKTERAK EEIGAVSIKK AVPGKKEEKT TKTVEQEIRK EKSGKTSSIL KDKEPIKGKE
EKVPASLKEK EPETKKDEKM SKAGKEVKPK PPQLQGKKEE KPEPQIKKEA KPAISEKVQI
HKQDIVKPEK TVSHGKPEEK VLKQVKAVTI EKTAKPKPTK KAEHREREPP SIKTDKPKPT
PKGTSEVTES GKKKTEISEK ESKEKADMKH LREEKVSTRK ESLQLHNVTK AEKPARVSKD
VEDVPASKKA KEGTEDVSPT KQKSPISFFQ CVYLDGYNGY GFQFPFTPAD RPGESSGQAN
SPGQKQQGQ*
mutated AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDSDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KVTHKEKEKG KEKVREKEKP
EKKATHKEKI EKKEKPETKT LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV
QKTPSKPKEK EDKEKAAVSK HEQKDQYAFC RYMIDIFVHG DLKPGQSPAI PPPLPTEQAS
RPTPASPALE EKEGEKKKAE KKVTSETKKK EKEDIKKKSE KETAIDVEKK EPGKASETKQ
GTVKIAAQAA AKKDEKKEDS KKTKKPAEVE QPKGKKQEKK EKHVEPAKSP KKEHSVPSDK
QVKAKTERAK EEIGAVSIKK AVPGKKEEKT TKTVEQEIRK EKSGKTSSIL KDKEPIKGKE
EKVPASLKEK EPETKKDEKM SKAGKEVKPK PPQLQGKKEE KPEPQIKKEA KPAISEKVQI
HKQDIVKPEK TVSHGKPEEK VLKQVKAVTI EKTAKPKPTK KAEHREREPP SIKTDKPKPT
PKGTSEVTES GKKKTEISEK ESKEKADMKH LREEKVSTRK ESLQLHNVTK AEKPARVSKD
VEDVPASKKA KEGTEDVSPT KQKSPISFFQ CVYLDGYNGY GFQFPFTPAD RPGESSGQAN
SPGQKQQGQ*
speed 1.29 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems