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: ENST00000370143
Querying Taster for transcript #2: ENST00000370141
Querying Taster for transcript #3: ENST00000370139
MT speed 0 s - this script 3.572425 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TRMT13polymorphism_automatic0.194119890254133simple_aaeaffectedA48Tsingle base exchangers472498show file
TRMT13polymorphism_automatic0.194119890254133simple_aaeaffectedA48Tsingle base exchangers472498show file
TRMT13polymorphism_automatic0.194119890254133simple_aaeaffectedA17Tsingle base exchangers472498show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.805880109745867 (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) chr1:100598866G>AN/A show variant in all transcripts   IGV
HGNC symbol TRMT13
Ensembl transcript ID ENST00000370143
Genbank transcript ID N/A
UniProt peptide Q9NUP7
alteration type single base exchange
alteration region CDS
DNA changes c.142G>A
cDNA.161G>A
g.161G>A
AA changes A48T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 48
frameshift no
known variant Reference ID: rs472498
databasehomozygous (A/A)heterozygousallele carriers
1000G15596702229
ExAC---
regulatory features Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
ETS1, Transcription Factor, ETS1 Transcription Factor Binding
Gabp, Transcription Factor, Gabp TF binding
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36ac, Histone, Histone 3 Lysine 36 Acetylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HDAC1, Transcription Factor, HDAC1 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
SIX5, Transcription Factor, SIX5 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
THAP1, Transcription Factor, THAP1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2060.415
1.2510.63
(flanking)1.4680.664
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased161wt: 0.39 / mu: 0.86wt: GAGCCGCGGAGGTGT
mu: GAGCCACGGAGGTGT		 GCCG|cgga
Donor increased157wt: 0.90 / mu: 1.00wt: GCTGGAGCCGCGGAG
mu: GCTGGAGCCACGGAG		 TGGA|gccg
Donor increased163wt: 0.51 / mu: 0.79wt: GCCGCGGAGGTGTGG
mu: GCCACGGAGGTGTGG		 CGCG|gagg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      48GKRFCGEHAGAAEEEDARKRILCP
mutated  not conserved    48GKRFCGEHAGATEEEDARKRILC
Ptroglodytes  all identical  ENSPTRG00000001001  48GKRFCGEHAGAAEEEDARKRILC
Mmulatta  all identical  ENSMMUG00000004243  48GKRFCGEHAGAAEEEDARKRILC
Fcatus  all identical  ENSFCAG00000002444  48GKRFCGEHAGAAE
Mmusculus  all identical  ENSMUSG00000033439  49GKRFCGEHAGSAEEENTRKRILC
Ggallus  not conserved  ENSGALG00000005290  49GRRFCGEH-GQQEKENDRKRIPC
Trubripes  all identical  ENSTRUG00000008400  37GKIYCGEHATMACADEEEAGSRIVC
Drerio  not conserved  ENSDARG00000042701  51GKTFCGEHANAGEEGE-RKRIPC
Dmelanogaster  not conserved  FBgn0037435  50GSEFCGAHASSAATTATCDEKAREDSFQERIPC
Celegans  not conserved  Y49A3A.3  45GNRFCGEH--SIHDQNNTDRMVC
Xtropicalis  not conserved  ENSXETG00000013204  60GKKFCGEHAQSGEEHDSRRRIPC
protein features
start (aa)end (aa)featuredetails 
4848CONFLICTA -> M (in Ref. 1; BAA92074 and 3; AAH75811).lost
5979ZN_FINGCHHC-type.might get lost (downstream of altered splice site)
113140COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 330 / 330
position (AA) of stopcodon in wt / mu AA sequence 110 / 110
position of stopcodon in wt / mu cDNA 349 / 349
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 20 / 20
chromosome 1
strand 1
last intron/exon boundary 344
theoretical NMD boundary in CDS 274
length of CDS 330
coding sequence (CDS) position 142
cDNA position
(for ins/del: last normal base / first normal base)		 161
gDNA position
(for ins/del: last normal base / first normal base)		 161
chromosomal position
(for ins/del: last normal base / first normal base)		 100598866
original gDNA sequence snippet GTGGTGAACACGCTGGAGCCGCGGAGGTGTGGTATCGCCCT
altered gDNA sequence snippet GTGGTGAACACGCTGGAGCCACGGAGGTGTGGTATCGCCCT
original cDNA sequence snippet GTGGTGAACACGCTGGAGCCGCGGAGGAAGAAGATGCTCGG
altered cDNA sequence snippet GTGGTGAACACGCTGGAGCCACGGAGGAAGAAGATGCTCGG
wildtype AA sequence MATSATSPHA PGFPAEGRCG YYVEKKKRFC RMVVAAGKRF CGEHAGAAEE EDARKRILCP
LDPKHTVYED QLAKHLKKCN SREKPKPDFY IQDINAGLRD ETEIPEQLA*
mutated AA sequence MATSATSPHA PGFPAEGRCG YYVEKKKRFC RMVVAAGKRF CGEHAGATEE EDARKRILCP
LDPKHTVYED QLAKHLKKCN SREKPKPDFY IQDINAGLRD ETEIPEQLA*
speed 0.78 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: 0.805880109745867 (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) chr1:100598866G>AN/A show variant in all transcripts   IGV
HGNC symbol TRMT13
Ensembl transcript ID ENST00000370141
Genbank transcript ID NM_019083
UniProt peptide Q9NUP7
alteration type single base exchange
alteration region CDS
DNA changes c.142G>A
cDNA.148G>A
g.161G>A
AA changes A48T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 48
frameshift no
known variant Reference ID: rs472498
databasehomozygous (A/A)heterozygousallele carriers
1000G15596702229
ExAC---
regulatory features Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
ETS1, Transcription Factor, ETS1 Transcription Factor Binding
Gabp, Transcription Factor, Gabp TF binding
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36ac, Histone, Histone 3 Lysine 36 Acetylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HDAC1, Transcription Factor, HDAC1 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
SIX5, Transcription Factor, SIX5 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
THAP1, Transcription Factor, THAP1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2060.415
1.2510.63
(flanking)1.4680.664
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased161wt: 0.39 / mu: 0.86wt: GAGCCGCGGAGGTGT
mu: GAGCCACGGAGGTGT		 GCCG|cgga
Donor increased157wt: 0.90 / mu: 1.00wt: GCTGGAGCCGCGGAG
mu: GCTGGAGCCACGGAG		 TGGA|gccg
Donor increased163wt: 0.51 / mu: 0.79wt: GCCGCGGAGGTGTGG
mu: GCCACGGAGGTGTGG		 CGCG|gagg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      48GKRFCGEHAGAAEEEDARKRILCP
mutated  not conserved    48GKRFCGEHAGATEEEDARKRILC
Ptroglodytes  all identical  ENSPTRG00000001001  48GKRFCGEHAGAAEEEDARKRILC
Mmulatta  all identical  ENSMMUG00000004243  48GKRFCGEHAGAAEEEDARKRILC
Fcatus  all identical  ENSFCAG00000002444  48GKRFCGEHAGAAE
Mmusculus  all identical  ENSMUSG00000033439  49GKRFCGEHAGSAEEENTRKRILC
Ggallus  not conserved  ENSGALG00000005290  49GRRFCGEH-GQQEKENDRKRIPC
Trubripes  all identical  ENSTRUG00000008400  37GKIYCGEHATMACADEEEAGSRIVC
Drerio  not conserved  ENSDARG00000042701  51GKTFCGEHANAGEEGE-RKRIPC
Dmelanogaster  not conserved  FBgn0037435  50GSEFCGAHASSAATTATCDEKAREDSFQERIPC
Celegans  not conserved  Y49A3A.3  45GNRFCGEH--SIHDQNNTDRMVC
Xtropicalis  not conserved  ENSXETG00000013204  60GKKFCGEHAQSGEEHDSRRRIPC
protein features
start (aa)end (aa)featuredetails 
4848CONFLICTA -> M (in Ref. 1; BAA92074 and 3; AAH75811).lost
5979ZN_FINGCHHC-type.might get lost (downstream of altered splice site)
113140COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1446 / 1446
position (AA) of stopcodon in wt / mu AA sequence 482 / 482
position of stopcodon in wt / mu cDNA 1452 / 1452
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 7 / 7
chromosome 1
strand 1
last intron/exon boundary 1257
theoretical NMD boundary in CDS 1200
length of CDS 1446
coding sequence (CDS) position 142
cDNA position
(for ins/del: last normal base / first normal base)		 148
gDNA position
(for ins/del: last normal base / first normal base)		 161
chromosomal position
(for ins/del: last normal base / first normal base)		 100598866
original gDNA sequence snippet GTGGTGAACACGCTGGAGCCGCGGAGGTGTGGTATCGCCCT
altered gDNA sequence snippet GTGGTGAACACGCTGGAGCCACGGAGGTGTGGTATCGCCCT
original cDNA sequence snippet GTGGTGAACACGCTGGAGCCGCGGAGGAAGAAGATGCTCGG
altered cDNA sequence snippet GTGGTGAACACGCTGGAGCCACGGAGGAAGAAGATGCTCGG
wildtype AA sequence MATSATSPHA PGFPAEGRCG YYVEKKKRFC RMVVAAGKRF CGEHAGAAEE EDARKRILCP
LDPKHTVYED QLAKHLKKCN SREKPKPDFY IQDINAGLRD ETEIPEQLVP ISSLSEEQLE
KLIKKLRKAS EGLNSTLKDH IMSHPALHDA LNDPKNGDSA TKHLKQQASI LGNIENLKLL
GPRRCFVEFG AGKGKLSHWV DIALKDAEKV HFILVEKVTT RFKVDGKHRK KNSVFERLQI
DIQHLCLNKI PVLREEKLPV VGIGKHLCGM ATDLALRCLV ETYAASFEER NEEPLAKRIK
NDKTEKEIYT LAKEGNEKNV PEKWNPVAGI VIALCCHHRC DWRHYVGKEY FRALGLGAVE
FHYFQRMSSW ATCGMRKTSL ETSNSTTKRQ DNQNDDSEEH DDGGYRITDD GADCLPGLLS
VEEKKKIGHL CKLLIDQGRI QYLQQKGFSP ALQYYTDPLV SLENVLLTAL PNHSSSPETT
A*
mutated AA sequence MATSATSPHA PGFPAEGRCG YYVEKKKRFC RMVVAAGKRF CGEHAGATEE EDARKRILCP
LDPKHTVYED QLAKHLKKCN SREKPKPDFY IQDINAGLRD ETEIPEQLVP ISSLSEEQLE
KLIKKLRKAS EGLNSTLKDH IMSHPALHDA LNDPKNGDSA TKHLKQQASI LGNIENLKLL
GPRRCFVEFG AGKGKLSHWV DIALKDAEKV HFILVEKVTT RFKVDGKHRK KNSVFERLQI
DIQHLCLNKI PVLREEKLPV VGIGKHLCGM ATDLALRCLV ETYAASFEER NEEPLAKRIK
NDKTEKEIYT LAKEGNEKNV PEKWNPVAGI VIALCCHHRC DWRHYVGKEY FRALGLGAVE
FHYFQRMSSW ATCGMRKTSL ETSNSTTKRQ DNQNDDSEEH DDGGYRITDD GADCLPGLLS
VEEKKKIGHL CKLLIDQGRI QYLQQKGFSP ALQYYTDPLV SLENVLLTAL PNHSSSPETT
A*
speed 0.47 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: 0.805880109745867 (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) chr1:100598866G>AN/A show variant in all transcripts   IGV
HGNC symbol TRMT13
Ensembl transcript ID ENST00000370139
Genbank transcript ID N/A
UniProt peptide Q9NUP7
alteration type single base exchange
alteration region CDS
DNA changes c.49G>A
cDNA.96G>A
g.161G>A
AA changes A17T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 17
frameshift no
known variant Reference ID: rs472498
databasehomozygous (A/A)heterozygousallele carriers
1000G15596702229
ExAC---
regulatory features Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
ETS1, Transcription Factor, ETS1 Transcription Factor Binding
Gabp, Transcription Factor, Gabp TF binding
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36ac, Histone, Histone 3 Lysine 36 Acetylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HDAC1, Transcription Factor, HDAC1 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
SIX5, Transcription Factor, SIX5 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
THAP1, Transcription Factor, THAP1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2060.415
1.2510.63
(flanking)1.4680.664
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased161wt: 0.39 / mu: 0.86wt: GAGCCGCGGAGGTGT
mu: GAGCCACGGAGGTGT		 GCCG|cgga
Donor increased157wt: 0.90 / mu: 1.00wt: GCTGGAGCCGCGGAG
mu: GCTGGAGCCACGGAG		 TGGA|gccg
Donor increased163wt: 0.51 / mu: 0.79wt: GCCGCGGAGGTGTGG
mu: GCCACGGAGGTGTGG		 CGCG|gagg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      17GKRFCGEHAGAAEEEDARKRILCP
mutated  not conserved    17GKRFCGEHAGATEEEDARKRILC
Ptroglodytes  all identical  ENSPTRG00000001001  48GKRFCGEHAGAAEEEDARKRILC
Mmulatta  all identical  ENSMMUG00000004243  48GKRFCGEHAGAAEEEDARKRILC
Fcatus  all identical  ENSFCAG00000002444  275GKHLCGVATDLA--------LRC
Mmusculus  all identical  ENSMUSG00000033439  48GKRFCGEHAGSAEEENTRKRILC
Ggallus  not conserved  ENSGALG00000005290  48GRRFCGEH-GQQEKENDRKRIPC
Trubripes  all identical  ENSTRUG00000008400  37GKIYCGEHATMACADEEEAGSRIVC
Drerio  not conserved  ENSDARG00000042701  51GKTFCGEHANAGEEGE-RKRIPC
Dmelanogaster  not conserved  FBgn0037435  50GSEFCGAHASSAATTATCDEKAREDSFQERIPC
Celegans  not conserved  Y49A3A.3  45GNRFCGEHS--IHDQNNTDRMVC
Xtropicalis  not conserved  ENSXETG00000013204  60GKKFCGEHAQSGEEHDSRRRIPC
protein features
start (aa)end (aa)featuredetails 
4848CONFLICTA -> M (in Ref. 1; BAA92074 and 3; AAH75811).might get lost (downstream of altered splice site)
5979ZN_FINGCHHC-type.might get lost (downstream of altered splice site)
113140COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 393 / 393
position (AA) of stopcodon in wt / mu AA sequence 131 / 131
position of stopcodon in wt / mu cDNA 440 / 440
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 48 / 48
chromosome 1
strand 1
last intron/exon boundary 349
theoretical NMD boundary in CDS 251
length of CDS 393
coding sequence (CDS) position 49
cDNA position
(for ins/del: last normal base / first normal base)		 96
gDNA position
(for ins/del: last normal base / first normal base)		 161
chromosomal position
(for ins/del: last normal base / first normal base)		 100598866
original gDNA sequence snippet GTGGTGAACACGCTGGAGCCGCGGAGGTGTGGTATCGCCCT
altered gDNA sequence snippet GTGGTGAACACGCTGGAGCCACGGAGGTGTGGTATCGCCCT
original cDNA sequence snippet GTGGTGAACACGCTGGAGCCGCGGAGGAAGAAGATGCTCGG
altered cDNA sequence snippet GTGGTGAACACGCTGGAGCCACGGAGGAAGAAGATGCTCGG
wildtype AA sequence MVVAAGKRFC GEHAGAAEEE DARKRILCPL DPKHTVYEDQ LAKHLKKCNS REKPKPDFYI
QDINAGLRDE TEIPEQLVPI SSLSEEQLEK LIKKLRKASE ALHDALNDPK NGDSATKHLK
QQVCLGYSNY *
mutated AA sequence MVVAAGKRFC GEHAGATEEE DARKRILCPL DPKHTVYEDQ LAKHLKKCNS REKPKPDFYI
QDINAGLRDE TEIPEQLVPI SSLSEEQLEK LIKKLRKASE ALHDALNDPK NGDSATKHLK
QQVCLGYSNY *
speed 0.78 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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