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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000355112
Querying Taster for transcript #2: ENST00000560509
MT speed 2.89 s - this script 6.958651 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BLMdisease_causing_automatic0.999999999990063simple_aaeaffected0C1036Fsingle base exchangers137853153show file
BLMdisease_causing_automatic0.999999999990063simple_aaeaffected0C1036Fsingle base exchangers137853153show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999990063 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM970166)
  • known disease mutation: rs5457 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:91337484G>TN/A show variant in all transcripts   IGV
HGNC symbol BLM
Ensembl transcript ID ENST00000355112
Genbank transcript ID NM_000057
UniProt peptide P54132
alteration type single base exchange
alteration region CDS
DNA changes c.3107G>T
cDNA.3225G>T
g.76927G>T
AA changes C1036F Score: 205 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1036
frameshift no
known variant Reference ID: rs137853153
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs5457 (pathogenic for Bloom syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970166)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970166)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970166)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.5961
5.5631
(flanking)1.1441
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased76930wt: 0.9759 / mu: 0.9887 (marginal change - not scored)wt: ATGCAGGAGAATACA
mu: ATTCAGGAGAATACA
 GCAG|gaga
Donor marginally increased76929wt: 0.9360 / mu: 0.9829 (marginal change - not scored)wt: AATGCAGGAGAATAC
mu: AATTCAGGAGAATAC
 TGCA|ggag
Donor increased76920wt: 0.37 / mu: 0.89wt: ATATAACGGAATGCA
mu: ATATAACGGAATTCA
 ATAA|cgga
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1036SMVHYCENITECRRIQLLAYFGEN
mutated  not conserved    1036SMVHYCENITEFRRIQLLAYFGE
Ptroglodytes  all identical  ENSPTRG00000007460  1036SMVHYCENITECRRIQLLAYFGE
Mmulatta  all identical  ENSMMUG00000019526  1035SMVHYCENITECRRIQLLAYFGE
Fcatus  all identical  ENSFCAG00000006087  1035NITECRRIQLLAYFGE
Mmusculus  all identical  ENSMUSG00000030528  1047SMVHYCENITECRRIQLLAYFGE
Ggallus  all identical  ENSGALG00000008256  1004VVDCRRIQLLAYFGE
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000077089  1028HFCENVAECRRIQLLAYFGE
Dmelanogaster  all identical  FBgn0002906  1105RIVGYCENLTDCRRAQQLDYFGE
Celegans  all identical  T04A11.6  613QVVAYCENVSVCRRKMLVEHFGE
Xtropicalis  all identical  ENSXETG00000007847  1044SMVHYCENVVECRRMQL
protein features
start (aa)end (aa)featuredetails 
12071209STRANDmight get lost (downstream of altered splice site)
12111233HELIXmight get lost (downstream of altered splice site)
12121292DOMAINHRDC.might get lost (downstream of altered splice site)
12371240HELIXmight get lost (downstream of altered splice site)
12431252HELIXmight get lost (downstream of altered splice site)
12571261HELIXmight get lost (downstream of altered splice site)
12631265STRANDmight get lost (downstream of altered splice site)
12681273HELIXmight get lost (downstream of altered splice site)
12751288HELIXmight get lost (downstream of altered splice site)
12951295MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12961296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13031303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13101310MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13341349MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
14111411MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4254 / 4254
position (AA) of stopcodon in wt / mu AA sequence 1418 / 1418
position of stopcodon in wt / mu cDNA 4372 / 4372
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 119 / 119
chromosome 15
strand 1
last intron/exon boundary 4195
theoretical NMD boundary in CDS 4026
length of CDS 4254
coding sequence (CDS) position 3107
cDNA position
(for ins/del: last normal base / first normal base)
3225
gDNA position
(for ins/del: last normal base / first normal base)
76927
chromosomal position
(for ins/del: last normal base / first normal base)
91337484
original gDNA sequence snippet CTGTGAAAATATAACGGAATGCAGGAGAATACAGCTTTTGG
altered gDNA sequence snippet CTGTGAAAATATAACGGAATTCAGGAGAATACAGCTTTTGG
original cDNA sequence snippet CTGTGAAAATATAACGGAATGCAGGAGAATACAGCTTTTGG
altered cDNA sequence snippet CTGTGAAAATATAACGGAATTCAGGAGAATACAGCTTTTGG
wildtype AA sequence MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL
RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC
TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV
STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD
GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF
VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD
CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD
ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS
ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI
NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL
SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH
KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI
VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL
ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD
ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE
CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF
VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF
NNLYSMVHYC ENITECRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD
VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLG SKSAKIQSGI FGKGSAYSRH
NAERLFKKLI LDKILDEDLY INANDQAIAY VMLGNKAQTV LNGNLKVDFM ETENSSSVKK
QKALVAKVSQ REEMVKKCLG ELTEVCKSLG KVFGVHYFNI FNTVTLKKLA ESLSSDPEVL
LQIDGVTEDK LEKYGAEVIS VLQKYSEWTS PAEDSSPGIS LSSSRGPGRS AAEELDEEIP
VSSHYFASKT RNERKRKKMP ASQRSKRRKT ASSGSKAKGG SATCRKISSK TKSSSIIGSS
SASHTSQATS GANSKLGIMA PPKPINRPFL KPSYAFS*
mutated AA sequence MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL
RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC
TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV
STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD
GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF
VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD
CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD
ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS
ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI
NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL
SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH
KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI
VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL
ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD
ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE
CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF
VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF
NNLYSMVHYC ENITEFRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD
VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLG SKSAKIQSGI FGKGSAYSRH
NAERLFKKLI LDKILDEDLY INANDQAIAY VMLGNKAQTV LNGNLKVDFM ETENSSSVKK
QKALVAKVSQ REEMVKKCLG ELTEVCKSLG KVFGVHYFNI FNTVTLKKLA ESLSSDPEVL
LQIDGVTEDK LEKYGAEVIS VLQKYSEWTS PAEDSSPGIS LSSSRGPGRS AAEELDEEIP
VSSHYFASKT RNERKRKKMP ASQRSKRRKT ASSGSKAKGG SATCRKISSK TKSSSIIGSS
SASHTSQATS GANSKLGIMA PPKPINRPFL KPSYAFS*
speed 1.43 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

disease causing

Model: simple_aae, prob: 0.999999999990063 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM970166)
  • known disease mutation: rs5457 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:91337484G>TN/A show variant in all transcripts   IGV
HGNC symbol BLM
Ensembl transcript ID ENST00000560509
Genbank transcript ID N/A
UniProt peptide P54132
alteration type single base exchange
alteration region CDS
DNA changes c.3107G>T
cDNA.3158G>T
g.76927G>T
AA changes C1036F Score: 205 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1036
frameshift no
known variant Reference ID: rs137853153
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs5457 (pathogenic for Bloom syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970166)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970166)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970166)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.5961
5.5631
(flanking)1.1441
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased76930wt: 0.9759 / mu: 0.9887 (marginal change - not scored)wt: ATGCAGGAGAATACA
mu: ATTCAGGAGAATACA
 GCAG|gaga
Donor marginally increased76929wt: 0.9360 / mu: 0.9829 (marginal change - not scored)wt: AATGCAGGAGAATAC
mu: AATTCAGGAGAATAC
 TGCA|ggag
Donor increased76920wt: 0.37 / mu: 0.89wt: ATATAACGGAATGCA
mu: ATATAACGGAATTCA
 ATAA|cgga
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1036SMVHYCENITECRRIQLLAYFGEN
mutated  not conserved    1036SMVHYCENITEFRRIQLLAYFGE
Ptroglodytes  all identical  ENSPTRG00000007460  1036SMVHYCENITECRRIQLLAYFGE
Mmulatta  all identical  ENSMMUG00000019526  1035SMVHYCENITECRRIQLLAYFGE
Fcatus  all identical  ENSFCAG00000006087  1035NITECRRIQLLAYFGE
Mmusculus  all identical  ENSMUSG00000030528  1047SMVHYCENITECRRIQLLAYFGE
Ggallus  all identical  ENSGALG00000008256  1004VVDCRRIQLLAYFGE
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000077089  1028HFCENVAECRRIQLLAYFGE
Dmelanogaster  all identical  FBgn0002906  1105RIVGYCENLTDCRRAQQLDYFGE
Celegans  all identical  T04A11.6  613QVVAYCENVSVCRRKMLVEHFGE
Xtropicalis  all identical  ENSXETG00000007847  1044SMVHYCENVVECRRMQL
protein features
start (aa)end (aa)featuredetails 
12071209STRANDmight get lost (downstream of altered splice site)
12111233HELIXmight get lost (downstream of altered splice site)
12121292DOMAINHRDC.might get lost (downstream of altered splice site)
12371240HELIXmight get lost (downstream of altered splice site)
12431252HELIXmight get lost (downstream of altered splice site)
12571261HELIXmight get lost (downstream of altered splice site)
12631265STRANDmight get lost (downstream of altered splice site)
12681273HELIXmight get lost (downstream of altered splice site)
12751288HELIXmight get lost (downstream of altered splice site)
12951295MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12961296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13031303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13101310MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13341349MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
14111411MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3861 / 3861
position (AA) of stopcodon in wt / mu AA sequence 1287 / 1287
position of stopcodon in wt / mu cDNA 3912 / 3912
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 52 / 52
chromosome 15
strand 1
last intron/exon boundary 3735
theoretical NMD boundary in CDS 3633
length of CDS 3861
coding sequence (CDS) position 3107
cDNA position
(for ins/del: last normal base / first normal base)
3158
gDNA position
(for ins/del: last normal base / first normal base)
76927
chromosomal position
(for ins/del: last normal base / first normal base)
91337484
original gDNA sequence snippet CTGTGAAAATATAACGGAATGCAGGAGAATACAGCTTTTGG
altered gDNA sequence snippet CTGTGAAAATATAACGGAATTCAGGAGAATACAGCTTTTGG
original cDNA sequence snippet CTGTGAAAATATAACGGAATGCAGGAGAATACAGCTTTTGG
altered cDNA sequence snippet CTGTGAAAATATAACGGAATTCAGGAGAATACAGCTTTTGG
wildtype AA sequence MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL
RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC
TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV
STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD
GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF
VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD
CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD
ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS
ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI
NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL
SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH
KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI
VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL
ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD
ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE
CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF
VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF
NNLYSMVHYC ENITECRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD
VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLE SLSSDPEVLL QIDGVTEDKL
EKYGAEVISV LQKYSEWTSP AEDSSPGISL SSSRGPGRSA AEELDEEIPV SSHYFASKTR
NERKRKKMPA SQRSKRRKTA SSGSKAKGGS ATCRKISSKT KSSSIIGSSS ASHTSQATSG
ANSKLGIMAP PKPINRPFLK PSYAFS*
mutated AA sequence MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL
RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC
TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV
STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD
GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF
VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD
CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD
ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS
ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI
NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL
SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH
KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI
VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL
ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD
ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE
CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF
VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF
NNLYSMVHYC ENITEFRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD
VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLE SLSSDPEVLL QIDGVTEDKL
EKYGAEVISV LQKYSEWTSP AEDSSPGISL SSSRGPGRSA AEELDEEIPV SSHYFASKTR
NERKRKKMPA SQRSKRRKTA SSGSKAKGGS ATCRKISSKT KSSSIIGSSS ASHTSQATSG
ANSKLGIMAP PKPINRPFLK PSYAFS*
speed 1.46 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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