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: ENST00000395325
Querying Taster for transcript #2: ENST00000371069
Querying Taster for transcript #3: ENST00000263441
MT speed 0 s - this script 3.585169 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DNAJC6polymorphism_automatic2.83290058078478e-11simple_aaeaffectedS671Nsingle base exchangers4915691show file
DNAJC6polymorphism_automatic2.83290058078478e-11simple_aaeaffectedS728Nsingle base exchangers4915691show file
DNAJC6polymorphism_automatic2.83290058078478e-11simple_aaeaffectedS658Nsingle base exchangers4915691show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999971671 (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) chr1:65867519G>AN/A show variant in all transcripts   IGV
HGNC symbol DNAJC6
Ensembl transcript ID ENST00000395325
Genbank transcript ID NM_001256864
UniProt peptide O75061
alteration type single base exchange
alteration region CDS
DNA changes c.2012G>A
cDNA.2169G>A
g.153618G>A
AA changes S671N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS
671
frameshift no
known variant Reference ID: rs4915691
databasehomozygous (A/A)heterozygousallele carriers
1000G4389281366
ExAC38221331517137
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1410
-1.2070
(flanking)1.520.904
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased153616wt: 0.66 / mu: 0.86wt: CATCAAAGCAAACCC
mu: CATCAAAACAAACCC
 TCAA|agca
Donor marginally increased153611wt: 0.3064 / mu: 0.3299 (marginal change - not scored)wt: CCACCCATCAAAGCA
mu: CCACCCATCAAAACA
 ACCC|atca
Donor gained1536180.31mu: TCAAAACAAACCCCA AAAA|caaa
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      671TGSSHGTPTHQSKPQTLDPFADLG
mutated  all conserved    671GSSHGTPTHQNKPQTLDPFADL
Ptroglodytes  all conserved  ENSPTRG00000000829  728GTPTHQNKPQTLDPFADL
Mmulatta  all conserved  ENSMMUG00000017259  728GTPTHQNKPQTLDPFADL
Fcatus  not conserved  ENSFCAG00000008367  728XXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000028528  726HGTPTHQSKPQTLDPFADL
Ggallus  not conserved  ENSGALG00000011041  675SLHSTPTHQPKPQTLDPFADL
Trubripes  not conserved  ENSTRUG00000018550  695SVKPNTLDPFADI
Drerio  all conserved  ENSDARG00000079891  634TSSAHGTPTHQTKPNTLDPFADL
Dmelanogaster  not conserved  FBgn0037218  963QPTQFSSPTHKPSPSSQP-----
Celegans  not conserved  W07A8.3  528APSTHFNNSSSGANLVDFDLGAPIKPTSSA
Xtropicalis  not conserved  ENSXETG00000020390  551TASPHGTPLHQPKPQSLDPFADI
protein features
start (aa)end (aa)featuredetails 
466760COMPBIASPro-rich.lost
696696MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
709709MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
849913DOMAINJ.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2742 / 2742
position (AA) of stopcodon in wt / mu AA sequence 914 / 914
position of stopcodon in wt / mu cDNA 2899 / 2899
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 158 / 158
chromosome 1
strand 1
last intron/exon boundary 2798
theoretical NMD boundary in CDS 2590
length of CDS 2742
coding sequence (CDS) position 2012
cDNA position
(for ins/del: last normal base / first normal base)
2169
gDNA position
(for ins/del: last normal base / first normal base)
153618
chromosomal position
(for ins/del: last normal base / first normal base)
65867519
original gDNA sequence snippet TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC
altered gDNA sequence snippet TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC
original cDNA sequence snippet TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC
altered cDNA sequence snippet TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC
wildtype AA sequence MKDSENKGAS SPDMEPSYGG GLFDMVKGGA GRLFSNLKDN LKDTLKDTSS RVIQSVTSYT
KGDLDFTYVT SRIIVMSFPL DNVDIGFRNQ VDDIRSFLDS RHLDHYTVYN LSPKSYRTAK
FHSRVSECSW PIRQAPSLHN LFAVCRNMYN WLLQNPKNVC VVHCLDGRAA SSILVGAMFI
FCNLYSTPGP AIRLLYAKRP GIGLSPSHRR YLGYMCDLLA DKPYRPHFKP LTIKSITVSP
IPFFNKQRNG CRPYCDVLIG ETKIYSTCTD FERMKEYRVQ DGKIFIPLNI TVQGDVVVSM
YHLRSTIGSR LQAKVTNTQI FQLQFHTGFI PLDTTVLKFT KPELDACDVP EKYPQLFQVT
LDVELQPHDK VIDLTPPWEH YCTKDVNPSI LFSSHQEHQD TLALGGQAPI DIPPDNPRHY
GQSGFFASLC WQDQKSEKSF CEEDHAALVN QESEQSDDEL LTLSSPHGNA NGDKPHGVKK
PSKKQQEPAA PPPPEDVDLL GLEGSAMSNS FSPPAAPPTN SELLSDLFGG GGAAGPTQAG
QSGVEDVFHP SGPASTQSTP RRSATSTSAS PTLRVGEGAT FDPFGAPSKP SGQDLLGSFL
NTSSASSDPF LQPTRSPSPT VHASSTPAVN IQPDVSGGWD WHAKPGGFGM GSKSAATSPT
GSSHGTPTHQ SKPQTLDPFA DLGTLGSSSF ASKPTTPTGL GGGFPPLSSP QKASPQPMGG
GWQQGGAYNW QQPQPKPQPS MPHSSPQNRP NYNVSFSAMP GGQNERGKGS SNLEGKQKAA
DFEDLLSGQG FNAHKDKKGP RTIAEMRKEE MAKEMDPEKL KILEWIEGKE RNIRALLSTM
HTVLWAGETK WKPVGMADLV TPEQVKKVYR KAVLVVHPDK ATGQPYEQYA KMIFMELNDA
WSEFENQGQK PLY*
mutated AA sequence MKDSENKGAS SPDMEPSYGG GLFDMVKGGA GRLFSNLKDN LKDTLKDTSS RVIQSVTSYT
KGDLDFTYVT SRIIVMSFPL DNVDIGFRNQ VDDIRSFLDS RHLDHYTVYN LSPKSYRTAK
FHSRVSECSW PIRQAPSLHN LFAVCRNMYN WLLQNPKNVC VVHCLDGRAA SSILVGAMFI
FCNLYSTPGP AIRLLYAKRP GIGLSPSHRR YLGYMCDLLA DKPYRPHFKP LTIKSITVSP
IPFFNKQRNG CRPYCDVLIG ETKIYSTCTD FERMKEYRVQ DGKIFIPLNI TVQGDVVVSM
YHLRSTIGSR LQAKVTNTQI FQLQFHTGFI PLDTTVLKFT KPELDACDVP EKYPQLFQVT
LDVELQPHDK VIDLTPPWEH YCTKDVNPSI LFSSHQEHQD TLALGGQAPI DIPPDNPRHY
GQSGFFASLC WQDQKSEKSF CEEDHAALVN QESEQSDDEL LTLSSPHGNA NGDKPHGVKK
PSKKQQEPAA PPPPEDVDLL GLEGSAMSNS FSPPAAPPTN SELLSDLFGG GGAAGPTQAG
QSGVEDVFHP SGPASTQSTP RRSATSTSAS PTLRVGEGAT FDPFGAPSKP SGQDLLGSFL
NTSSASSDPF LQPTRSPSPT VHASSTPAVN IQPDVSGGWD WHAKPGGFGM GSKSAATSPT
GSSHGTPTHQ NKPQTLDPFA DLGTLGSSSF ASKPTTPTGL GGGFPPLSSP QKASPQPMGG
GWQQGGAYNW QQPQPKPQPS MPHSSPQNRP NYNVSFSAMP GGQNERGKGS SNLEGKQKAA
DFEDLLSGQG FNAHKDKKGP RTIAEMRKEE MAKEMDPEKL KILEWIEGKE RNIRALLSTM
HTVLWAGETK WKPVGMADLV TPEQVKKVYR KAVLVVHPDK ATGQPYEQYA KMIFMELNDA
WSEFENQGQK PLY*
speed 0.18 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: 0.999999999971671 (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) chr1:65867519G>AN/A show variant in all transcripts   IGV
HGNC symbol DNAJC6
Ensembl transcript ID ENST00000371069
Genbank transcript ID N/A
UniProt peptide O75061
alteration type single base exchange
alteration region CDS
DNA changes c.2183G>A
cDNA.2384G>A
g.153618G>A
AA changes S728N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS
728
frameshift no
known variant Reference ID: rs4915691
databasehomozygous (A/A)heterozygousallele carriers
1000G4389281366
ExAC38221331517137
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1410
-1.2070
(flanking)1.520.904
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased153616wt: 0.66 / mu: 0.86wt: CATCAAAGCAAACCC
mu: CATCAAAACAAACCC
 TCAA|agca
Donor marginally increased153611wt: 0.3064 / mu: 0.3299 (marginal change - not scored)wt: CCACCCATCAAAGCA
mu: CCACCCATCAAAACA
 ACCC|atca
Donor gained1536180.31mu: TCAAAACAAACCCCA AAAA|caaa
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      728TGSSHGTPTHQSKPQTLDPFADLG
mutated  all conserved    728HGTPTHQNKPQTLDPFADL
Ptroglodytes  all conserved  ENSPTRG00000000829  728HGTPTHQNKPQTLDPFADL
Mmulatta  all conserved  ENSMMUG00000017259  728HGTPTHQNKPQTLDPFADL
Fcatus  not conserved  ENSFCAG00000008367  728XXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000028528  726HGTPTHQSKPQTLDPFADL
Ggallus  not conserved  ENSGALG00000011041  675SLHSTPTHQPKPQTLDPFADL
Trubripes  not conserved  ENSTRUG00000018550  695SVKPNTLDPFADI
Drerio  all conserved  ENSDARG00000079891  634TSSAHGTPTHQTKPNTLDPFADL
Dmelanogaster  not conserved  FBgn0037218  963QPTQFSSPTHKPSPSSQP-----
Celegans  not conserved  W07A8.3  528APSTHFNNSSSGANLVDFDLGAPIKPTSSA
Xtropicalis  not conserved  ENSXETG00000020390  551TASPHGTPLHQPKPQSLDPFADI
protein features
start (aa)end (aa)featuredetails 
466760COMPBIASPro-rich.lost
849913DOMAINJ.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2913 / 2913
position (AA) of stopcodon in wt / mu AA sequence 971 / 971
position of stopcodon in wt / mu cDNA 3114 / 3114
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 202 / 202
chromosome 1
strand 1
last intron/exon boundary 3013
theoretical NMD boundary in CDS 2761
length of CDS 2913
coding sequence (CDS) position 2183
cDNA position
(for ins/del: last normal base / first normal base)
2384
gDNA position
(for ins/del: last normal base / first normal base)
153618
chromosomal position
(for ins/del: last normal base / first normal base)
65867519
original gDNA sequence snippet TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC
altered gDNA sequence snippet TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC
original cDNA sequence snippet TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC
altered cDNA sequence snippet TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC
wildtype AA sequence MSLLGSYRKK TSNDGYESLQ LVDSNGDLSA GSGGVGGKQR VNAGAAARSP ARQPPDRAST
MDSSGASSPD MEPSYGGGLF DMVKGGAGRL FSNLKDNLKD TLKDTSSRVI QSVTSYTKGD
LDFTYVTSRI IVMSFPLDNV DIGFRNQVDD IRSFLDSRHL DHYTVYNLSP KSYRTAKFHS
RVSECSWPIR QAPSLHNLFA VCRNMYNWLL QNPKNVCVVH CLDGRAASSI LVGAMFIFCN
LYSTPGPAIR LLYAKRPGIG LSPSHRRYLG YMCDLLADKP YRPHFKPLTI KSITVSPIPF
FNKQRNGCRP YCDVLIGETK IYSTCTDFER MKEYRVQDGK IFIPLNITVQ GDVVVSMYHL
RSTIGSRLQA KVTNTQIFQL QFHTGFIPLD TTVLKFTKPE LDACDVPEKY PQLFQVTLDV
ELQPHDKVID LTPPWEHYCT KDVNPSILFS SHQEHQDTLA LGGQAPIDIP PDNPRHYGQS
GFFASLCWQD QKSEKSFCEE DHAALVNQES EQSDDELLTL SSPHGNANGD KPHGVKKPSK
KQQEPAAPPP PEDVDLLGLE GSAMSNSFSP PAAPPTNSEL LSDLFGGGGA AGPTQAGQSG
VEDVFHPSGP ASTQSTPRRS ATSTSASPTL RVGEGATFDP FGAPSKPSGQ DLLGSFLNTS
SASSDPFLQP TRSPSPTVHA SSTPAVNIQP DVSGGWDWHA KPGGFGMGSK SAATSPTGSS
HGTPTHQSKP QTLDPFADLG TLGSSSFASK PTTPTGLGGG FPPLSSPQKA SPQPMGGGWQ
QGGAYNWQQP QPKPQPSMPH SSPQNRPNYN VSFSAMPGGQ NERGKGSSNL EGKQKAADFE
DLLSGQGFNA HKDKKGPRTI AEMRKEEMAK EMDPEKLKIL EWIEGKERNI RALLSTMHTV
LWAGETKWKP VGMADLVTPE QVKKVYRKAV LVVHPDKATG QPYEQYAKMI FMELNDAWSE
FENQGQKPLY *
mutated AA sequence MSLLGSYRKK TSNDGYESLQ LVDSNGDLSA GSGGVGGKQR VNAGAAARSP ARQPPDRAST
MDSSGASSPD MEPSYGGGLF DMVKGGAGRL FSNLKDNLKD TLKDTSSRVI QSVTSYTKGD
LDFTYVTSRI IVMSFPLDNV DIGFRNQVDD IRSFLDSRHL DHYTVYNLSP KSYRTAKFHS
RVSECSWPIR QAPSLHNLFA VCRNMYNWLL QNPKNVCVVH CLDGRAASSI LVGAMFIFCN
LYSTPGPAIR LLYAKRPGIG LSPSHRRYLG YMCDLLADKP YRPHFKPLTI KSITVSPIPF
FNKQRNGCRP YCDVLIGETK IYSTCTDFER MKEYRVQDGK IFIPLNITVQ GDVVVSMYHL
RSTIGSRLQA KVTNTQIFQL QFHTGFIPLD TTVLKFTKPE LDACDVPEKY PQLFQVTLDV
ELQPHDKVID LTPPWEHYCT KDVNPSILFS SHQEHQDTLA LGGQAPIDIP PDNPRHYGQS
GFFASLCWQD QKSEKSFCEE DHAALVNQES EQSDDELLTL SSPHGNANGD KPHGVKKPSK
KQQEPAAPPP PEDVDLLGLE GSAMSNSFSP PAAPPTNSEL LSDLFGGGGA AGPTQAGQSG
VEDVFHPSGP ASTQSTPRRS ATSTSASPTL RVGEGATFDP FGAPSKPSGQ DLLGSFLNTS
SASSDPFLQP TRSPSPTVHA SSTPAVNIQP DVSGGWDWHA KPGGFGMGSK SAATSPTGSS
HGTPTHQNKP QTLDPFADLG TLGSSSFASK PTTPTGLGGG FPPLSSPQKA SPQPMGGGWQ
QGGAYNWQQP QPKPQPSMPH SSPQNRPNYN VSFSAMPGGQ NERGKGSSNL EGKQKAADFE
DLLSGQGFNA HKDKKGPRTI AEMRKEEMAK EMDPEKLKIL EWIEGKERNI RALLSTMHTV
LWAGETKWKP VGMADLVTPE QVKKVYRKAV LVVHPDKATG QPYEQYAKMI FMELNDAWSE
FENQGQKPLY *
speed 1.40 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: 0.999999999971671 (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) chr1:65867519G>AN/A show variant in all transcripts   IGV
HGNC symbol DNAJC6
Ensembl transcript ID ENST00000263441
Genbank transcript ID N/A
UniProt peptide O75061
alteration type single base exchange
alteration region CDS
DNA changes c.1973G>A
cDNA.2295G>A
g.153618G>A
AA changes S658N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS
658
frameshift no
known variant Reference ID: rs4915691
databasehomozygous (A/A)heterozygousallele carriers
1000G4389281366
ExAC38221331517137
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1410
-1.2070
(flanking)1.520.904
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased153616wt: 0.66 / mu: 0.86wt: CATCAAAGCAAACCC
mu: CATCAAAACAAACCC
 TCAA|agca
Donor marginally increased153611wt: 0.3064 / mu: 0.3299 (marginal change - not scored)wt: CCACCCATCAAAGCA
mu: CCACCCATCAAAACA
 ACCC|atca
Donor gained1536180.31mu: TCAAAACAAACCCCA AAAA|caaa
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      658TGSSHGTPTHQSKPQTLDPFADLG
mutated  all conserved    658TGSSHGTPTHQNKP
Ptroglodytes  all conserved  ENSPTRG00000000829  728TGSSHGTPTHQNKP
Mmulatta  all conserved  ENSMMUG00000017259  728TGSSHGTPTHQNKP
Fcatus  not conserved  ENSFCAG00000008367  728XXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000028528  726TGSSHGTPTHQSKP
Ggallus  not conserved  ENSGALG00000011041  675QPKPQTLDPFADL
Trubripes  not conserved  ENSTRUG00000018550  695SVKPNTLDPFADI
Drerio  all conserved  ENSDARG00000079891  634TSSAHGTPTHQTKPNTLDPFADL
Dmelanogaster  not conserved  FBgn0037218  963QPTQFSSPTHKPSPSSQP-----
Celegans  not conserved  W07A8.3  528APSTHFNNSSSGANLVDFDLGAPIKPTSSA
Xtropicalis  not conserved  ENSXETG00000020390  551TASPHGTPLHQPKPQSLDPFADI
protein features
start (aa)end (aa)featuredetails 
466760COMPBIASPro-rich.lost
696696MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
709709MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
849913DOMAINJ.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2703 / 2703
position (AA) of stopcodon in wt / mu AA sequence 901 / 901
position of stopcodon in wt / mu cDNA 3025 / 3025
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 323 / 323
chromosome 1
strand 1
last intron/exon boundary 2924
theoretical NMD boundary in CDS 2551
length of CDS 2703
coding sequence (CDS) position 1973
cDNA position
(for ins/del: last normal base / first normal base)
2295
gDNA position
(for ins/del: last normal base / first normal base)
153618
chromosomal position
(for ins/del: last normal base / first normal base)
65867519
original gDNA sequence snippet TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC
altered gDNA sequence snippet TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC
original cDNA sequence snippet TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC
altered cDNA sequence snippet TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC
wildtype AA sequence MEPSYGGGLF DMVKGGAGRL FSNLKDNLKD TLKDTSSRVI QSVTSYTKGD LDFTYVTSRI
IVMSFPLDNV DIGFRNQVDD IRSFLDSRHL DHYTVYNLSP KSYRTAKFHS RVSECSWPIR
QAPSLHNLFA VCRNMYNWLL QNPKNVCVVH CLDGRAASSI LVGAMFIFCN LYSTPGPAIR
LLYAKRPGIG LSPSHRRYLG YMCDLLADKP YRPHFKPLTI KSITVSPIPF FNKQRNGCRP
YCDVLIGETK IYSTCTDFER MKEYRVQDGK IFIPLNITVQ GDVVVSMYHL RSTIGSRLQA
KVTNTQIFQL QFHTGFIPLD TTVLKFTKPE LDACDVPEKY PQLFQVTLDV ELQPHDKVID
LTPPWEHYCT KDVNPSILFS SHQEHQDTLA LGGQAPIDIP PDNPRHYGQS GFFASLCWQD
QKSEKSFCEE DHAALVNQES EQSDDELLTL SSPHGNANGD KPHGVKKPSK KQQEPAAPPP
PEDVDLLGLE GSAMSNSFSP PAAPPTNSEL LSDLFGGGGA AGPTQAGQSG VEDVFHPSGP
ASTQSTPRRS ATSTSASPTL RVGEGATFDP FGAPSKPSGQ DLLGSFLNTS SASSDPFLQP
TRSPSPTVHA SSTPAVNIQP DVSGGWDWHA KPGGFGMGSK SAATSPTGSS HGTPTHQSKP
QTLDPFADLG TLGSSSFASK PTTPTGLGGG FPPLSSPQKA SPQPMGGGWQ QGGAYNWQQP
QPKPQPSMPH SSPQNRPNYN VSFSAMPGGQ NERGKGSSNL EGKQKAADFE DLLSGQGFNA
HKDKKGPRTI AEMRKEEMAK EMDPEKLKIL EWIEGKERNI RALLSTMHTV LWAGETKWKP
VGMADLVTPE QVKKVYRKAV LVVHPDKATG QPYEQYAKMI FMELNDAWSE FENQGQKPLY
*
mutated AA sequence MEPSYGGGLF DMVKGGAGRL FSNLKDNLKD TLKDTSSRVI QSVTSYTKGD LDFTYVTSRI
IVMSFPLDNV DIGFRNQVDD IRSFLDSRHL DHYTVYNLSP KSYRTAKFHS RVSECSWPIR
QAPSLHNLFA VCRNMYNWLL QNPKNVCVVH CLDGRAASSI LVGAMFIFCN LYSTPGPAIR
LLYAKRPGIG LSPSHRRYLG YMCDLLADKP YRPHFKPLTI KSITVSPIPF FNKQRNGCRP
YCDVLIGETK IYSTCTDFER MKEYRVQDGK IFIPLNITVQ GDVVVSMYHL RSTIGSRLQA
KVTNTQIFQL QFHTGFIPLD TTVLKFTKPE LDACDVPEKY PQLFQVTLDV ELQPHDKVID
LTPPWEHYCT KDVNPSILFS SHQEHQDTLA LGGQAPIDIP PDNPRHYGQS GFFASLCWQD
QKSEKSFCEE DHAALVNQES EQSDDELLTL SSPHGNANGD KPHGVKKPSK KQQEPAAPPP
PEDVDLLGLE GSAMSNSFSP PAAPPTNSEL LSDLFGGGGA AGPTQAGQSG VEDVFHPSGP
ASTQSTPRRS ATSTSASPTL RVGEGATFDP FGAPSKPSGQ DLLGSFLNTS SASSDPFLQP
TRSPSPTVHA SSTPAVNIQP DVSGGWDWHA KPGGFGMGSK SAATSPTGSS HGTPTHQNKP
QTLDPFADLG TLGSSSFASK PTTPTGLGGG FPPLSSPQKA SPQPMGGGWQ QGGAYNWQQP
QPKPQPSMPH SSPQNRPNYN VSFSAMPGGQ NERGKGSSNL EGKQKAADFE DLLSGQGFNA
HKDKKGPRTI AEMRKEEMAK EMDPEKLKIL EWIEGKERNI RALLSTMHTV LWAGETKWKP
VGMADLVTPE QVKKVYRKAV LVVHPDKATG QPYEQYAKMI FMELNDAWSE FENQGQKPLY
*
speed 0.15 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
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Problems