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: ENST00000561234
Querying Taster for transcript #2: ENST00000416165
Querying Taster for transcript #3: ENST00000560846
MT speed 0 s - this script 3.493985 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BAHD1polymorphism_automatic0.035975797499019simple_aaeaffectedQ298Ksingle base exchangers3803357show file
BAHD1polymorphism_automatic0.035975797499019simple_aaeaffectedQ298Ksingle base exchangers3803357show file
BAHD1polymorphism_automatic0.035975797499019simple_aaeaffectedQ298Ksingle base exchangers3803357show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.964024202500981 (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) chr15:40751555C>AN/A show variant in all transcripts   IGV
HGNC symbol BAHD1
Ensembl transcript ID ENST00000416165
Genbank transcript ID NM_014952
UniProt peptide Q8TBE0
alteration type single base exchange
alteration region CDS
DNA changes c.892C>A
cDNA.963C>A
g.19636C>A
AA changes Q298K Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS
298
frameshift no
known variant Reference ID: rs3803357
databasehomozygous (A/A)heterozygousallele carriers
1000G12139582171
ExAC21580-1039311187
regulatory features H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0110.164
1.2260.848
(flanking)2.791
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased19640wt: 0.55 / mu: 0.68wt: TCAGCCCCTGAGCAA
mu: TAAGCCCCTGAGCAA
 AGCC|cctg
Donor gained196320.98mu: CCATCTCATAAGCCC ATCT|cata
distance from splice site 541
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298TPCGPSVQPSHQPLSKALESPLGL
mutated  all conserved    298TPCGPSVQPSHKPL
Ptroglodytes  all identical  ENSPTRG00000023028  298TPCGPSVQPSHQPL
Mmulatta  all identical  ENSMMUG00000017165  298TPRGPSIQPSHQPL
Fcatus  all identical  ENSFCAG00000013070  298TPRGPASQPPYQPL
Mmusculus  all identical  ENSMUSG00000040007  296PPHGPPTQPSHQAP
Ggallus  all conserved  ENSGALG00000004658  1KPIGRIVSSPKKG
Trubripes  not conserved  ENSTRUG00000010329  387NCAHRLTKPGYQSRMLAYPLKQVK
Drerio  no alignment  ENSDARG00000090712  n/a
Dmelanogaster  no alignment  FBgn0052529  n/a
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000016075  250KSSGKTEGVHVERSSNNYDGSES
protein features
start (aa)end (aa)featuredetails 
239361COMPBIASPro-rich.lost
556587COMPBIASArg-rich.might get lost (downstream of altered splice site)
624779DOMAINBAH.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2343 / 2343
position (AA) of stopcodon in wt / mu AA sequence 781 / 781
position of stopcodon in wt / mu cDNA 2414 / 2414
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 72 / 72
chromosome 15
strand 1
last intron/exon boundary 2225
theoretical NMD boundary in CDS 2103
length of CDS 2343
coding sequence (CDS) position 892
cDNA position
(for ins/del: last normal base / first normal base)
963
gDNA position
(for ins/del: last normal base / first normal base)
19636
chromosomal position
(for ins/del: last normal base / first normal base)
40751555
original gDNA sequence snippet CATCCGTCCAGCCATCTCATCAGCCCCTGAGCAAGGCTCTG
altered gDNA sequence snippet CATCCGTCCAGCCATCTCATAAGCCCCTGAGCAAGGCTCTG
original cDNA sequence snippet CATCCGTCCAGCCATCTCATCAGCCCCTGAGCAAGGCTCTG
altered cDNA sequence snippet CATCCGTCCAGCCATCTCATAAGCCCCTGAGCAAGGCTCTG
wildtype AA sequence MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR
PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA
SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS
RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP
APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHQPL
SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN
PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS
SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAEGC
RSLGQLEFPL PEAGHPASPA HPLLGCPVPS VPPAAEPVPH LQTPTSEPQT VARACPQSAK
PPSGSKSGLR TGSSCRHTAR SKAARRPSHP KQPRVQRPRP RRRRRRRTNG WVPVGAACEK
AVYVLDEPEP AIRKSYQAVE RHGETIRVRD TVLLKSGPRK TSTPYVAKIS ALWENPESGE
LMMSLLWYYR PEHLQGGRSP SMHEPLQNEV FASRHQDQNS VACIEEKCYV LTFAEYCRFC
AMAKRRGEGL PSRKTALVPP SADYSTPPHR TVPEDTDPEL VFLCRHVYDF RHGRILKNPQ
*
mutated AA sequence MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR
PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA
SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS
RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP
APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHKPL
SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN
PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS
SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAEGC
RSLGQLEFPL PEAGHPASPA HPLLGCPVPS VPPAAEPVPH LQTPTSEPQT VARACPQSAK
PPSGSKSGLR TGSSCRHTAR SKAARRPSHP KQPRVQRPRP RRRRRRRTNG WVPVGAACEK
AVYVLDEPEP AIRKSYQAVE RHGETIRVRD TVLLKSGPRK TSTPYVAKIS ALWENPESGE
LMMSLLWYYR PEHLQGGRSP SMHEPLQNEV FASRHQDQNS VACIEEKCYV LTFAEYCRFC
AMAKRRGEGL PSRKTALVPP SADYSTPPHR TVPEDTDPEL VFLCRHVYDF RHGRILKNPQ
*
speed 0.87 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: 0.964024202500981 (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) chr15:40751555C>AN/A show variant in all transcripts   IGV
HGNC symbol BAHD1
Ensembl transcript ID ENST00000561234
Genbank transcript ID N/A
UniProt peptide Q8TBE0
alteration type single base exchange
alteration region CDS
DNA changes c.892C>A
cDNA.1151C>A
g.19636C>A
AA changes Q298K Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS
298
frameshift no
known variant Reference ID: rs3803357
databasehomozygous (A/A)heterozygousallele carriers
1000G12139582171
ExAC21580-1039311187
regulatory features H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0110.164
1.2260.848
(flanking)2.791
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased19640wt: 0.55 / mu: 0.68wt: TCAGCCCCTGAGCAA
mu: TAAGCCCCTGAGCAA
 AGCC|cctg
Donor gained196320.98mu: CCATCTCATAAGCCC ATCT|cata
distance from splice site 541
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298TPCGPSVQPSHQPLSKALESPLGL
mutated  all conserved    298TPCGPSVQPSHKPL
Ptroglodytes  all identical  ENSPTRG00000023028  298TPCGPSVQPSHQPL
Mmulatta  all identical  ENSMMUG00000017165  298TPRGPSIQPSHQPL
Fcatus  all identical  ENSFCAG00000013070  298TPRGPASQPPYQPL
Mmusculus  all identical  ENSMUSG00000040007  296PPHGPPTQPSHQAP
Ggallus  all conserved  ENSGALG00000004658  1KPIGRIVSSPKKG
Trubripes  not conserved  ENSTRUG00000010329  387NCAHRLTKPGYQSRMLAYPLKQVK
Drerio  no alignment  ENSDARG00000090712  n/a
Dmelanogaster  no alignment  FBgn0052529  n/a
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000016075  250KSSGKTEGVHVERSSNNYDGSES
protein features
start (aa)end (aa)featuredetails 
239361COMPBIASPro-rich.lost
556587COMPBIASArg-rich.might get lost (downstream of altered splice site)
624779DOMAINBAH.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2340 / 2340
position (AA) of stopcodon in wt / mu AA sequence 780 / 780
position of stopcodon in wt / mu cDNA 2599 / 2599
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 260 / 260
chromosome 15
strand 1
last intron/exon boundary 2410
theoretical NMD boundary in CDS 2100
length of CDS 2340
coding sequence (CDS) position 892
cDNA position
(for ins/del: last normal base / first normal base)
1151
gDNA position
(for ins/del: last normal base / first normal base)
19636
chromosomal position
(for ins/del: last normal base / first normal base)
40751555
original gDNA sequence snippet CATCCGTCCAGCCATCTCATCAGCCCCTGAGCAAGGCTCTG
altered gDNA sequence snippet CATCCGTCCAGCCATCTCATAAGCCCCTGAGCAAGGCTCTG
original cDNA sequence snippet CATCCGTCCAGCCATCTCATCAGCCCCTGAGCAAGGCTCTG
altered cDNA sequence snippet CATCCGTCCAGCCATCTCATAAGCCCCTGAGCAAGGCTCTG
wildtype AA sequence MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR
PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA
SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS
RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP
APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHQPL
SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN
PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS
SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAGCR
SLGQLEFPLP EAGHPASPAH PLLGCPVPSV PPAAEPVPHL QTPTSEPQTV ARACPQSAKP
PSGSKSGLRT GSSCRHTARS KAARRPSHPK QPRVQRPRPR RRRRRRTNGW VPVGAACEKA
VYVLDEPEPA IRKSYQAVER HGETIRVRDT VLLKSGPRKT STPYVAKISA LWENPESGEL
MMSLLWYYRP EHLQGGRSPS MHEPLQNEVF ASRHQDQNSV ACIEEKCYVL TFAEYCRFCA
MAKRRGEGLP SRKTALVPPS ADYSTPPHRT VPEDTDPELV FLCRHVYDFR HGRILKNPQ*
mutated AA sequence MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR
PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA
SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS
RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP
APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHKPL
SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN
PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS
SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAGCR
SLGQLEFPLP EAGHPASPAH PLLGCPVPSV PPAAEPVPHL QTPTSEPQTV ARACPQSAKP
PSGSKSGLRT GSSCRHTARS KAARRPSHPK QPRVQRPRPR RRRRRRTNGW VPVGAACEKA
VYVLDEPEPA IRKSYQAVER HGETIRVRDT VLLKSGPRKT STPYVAKISA LWENPESGEL
MMSLLWYYRP EHLQGGRSPS MHEPLQNEVF ASRHQDQNSV ACIEEKCYVL TFAEYCRFCA
MAKRRGEGLP SRKTALVPPS ADYSTPPHRT VPEDTDPELV FLCRHVYDFR HGRILKNPQ*
speed 0.65 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: 0.964024202500981 (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) chr15:40751555C>AN/A show variant in all transcripts   IGV
HGNC symbol BAHD1
Ensembl transcript ID ENST00000560846
Genbank transcript ID N/A
UniProt peptide Q8TBE0
alteration type single base exchange
alteration region CDS
DNA changes c.892C>A
cDNA.892C>A
g.19636C>A
AA changes Q298K Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS
298
frameshift no
known variant Reference ID: rs3803357
databasehomozygous (A/A)heterozygousallele carriers
1000G12139582171
ExAC21580-1039311187
regulatory features H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0110.164
1.2260.848
(flanking)2.791
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased19640wt: 0.55 / mu: 0.68wt: TCAGCCCCTGAGCAA
mu: TAAGCCCCTGAGCAA
 AGCC|cctg
Donor gained196320.98mu: CCATCTCATAAGCCC ATCT|cata
distance from splice site 541
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298TPCGPSVQPSHQPLSKALESPLGL
mutated  all conserved    298TPCGPSVQPSHKPL
Ptroglodytes  all identical  ENSPTRG00000023028  298TPCGPSVQPSHQPL
Mmulatta  all identical  ENSMMUG00000017165  298TPRGPSIQPSHQPL
Fcatus  all identical  ENSFCAG00000013070  298TPRGPASQPPYQPL
Mmusculus  all identical  ENSMUSG00000040007  296PPHGPPTQPSHQAP
Ggallus  all conserved  ENSGALG00000004658  1KPIGRIVSSPKKG
Trubripes  not conserved  ENSTRUG00000010329  387NCAHRLTKPGYQSRMLAYPLKQVK
Drerio  no alignment  ENSDARG00000090712  n/a
Dmelanogaster  no alignment  FBgn0052529  n/a
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000016075  250KSSGKTEGVHVERSSNNYDGSES
protein features
start (aa)end (aa)featuredetails 
239361COMPBIASPro-rich.lost
556587COMPBIASArg-rich.might get lost (downstream of altered splice site)
624779DOMAINBAH.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2334 / 2334
position (AA) of stopcodon in wt / mu AA sequence 778 / 778
position of stopcodon in wt / mu cDNA 2334 / 2334
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 1 / 1
chromosome 15
strand 1
last intron/exon boundary 2145
theoretical NMD boundary in CDS 2094
length of CDS 2334
coding sequence (CDS) position 892
cDNA position
(for ins/del: last normal base / first normal base)
892
gDNA position
(for ins/del: last normal base / first normal base)
19636
chromosomal position
(for ins/del: last normal base / first normal base)
40751555
original gDNA sequence snippet CATCCGTCCAGCCATCTCATCAGCCCCTGAGCAAGGCTCTG
altered gDNA sequence snippet CATCCGTCCAGCCATCTCATAAGCCCCTGAGCAAGGCTCTG
original cDNA sequence snippet CATCCGTCCAGCCATCTCATCAGCCCCTGAGCAAGGCTCTG
altered cDNA sequence snippet CATCCGTCCAGCCATCTCATAAGCCCCTGAGCAAGGCTCTG
wildtype AA sequence MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR
PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA
SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS
RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP
APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHQPL
SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN
PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS
SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAEGC
RSLGQLEFPL PEAGHPASPA HPLLGCPVPS VPPAAEPVPH LQTPTSEPQT VARACPQSAK
PPSGSKSGLR TGSSCRHTAR SKAARRPSHP KQPRVQRPRP RRRRRRRTNG WVPVGAACEK
AVYVLDEPEP AIRKSYQAVE RHGETIRVRD TVLLKSGPRK TSTPYVAKIS ALWENPESGE
LMMSLLWYYR PEHLQGGRSP SMHENEVFAS RHQDQNSVAC IEEKCYVLTF AEYCRFCAMA
KRRGEGLPSR KTALVPPSAD YSTPPHRTVP EDTDPELVFL CRHVYDFRHG RILKNPQ*
mutated AA sequence MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR
PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA
SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS
RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP
APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHKPL
SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN
PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS
SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAEGC
RSLGQLEFPL PEAGHPASPA HPLLGCPVPS VPPAAEPVPH LQTPTSEPQT VARACPQSAK
PPSGSKSGLR TGSSCRHTAR SKAARRPSHP KQPRVQRPRP RRRRRRRTNG WVPVGAACEK
AVYVLDEPEP AIRKSYQAVE RHGETIRVRD TVLLKSGPRK TSTPYVAKIS ALWENPESGE
LMMSLLWYYR PEHLQGGRSP SMHENEVFAS RHQDQNSVAC IEEKCYVLTF AEYCRFCAMA
KRRGEGLPSR KTALVPPSAD YSTPPHRTVP EDTDPELVFL CRHVYDFRHG RILKNPQ*
speed 0.60 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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