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: ENST00000316081
Querying Taster for transcript #2: ENST00000544460
MT speed 0 s - this script 3.518523 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TDRD6polymorphism_automatic0.00808686563516603simple_aaeaffectedQ1014Esingle base exchangers9381472show file
TDRD6polymorphism_automatic0.00808686563516603simple_aaeaffectedQ1014Esingle base exchangers9381472show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.991913134364834 (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) chr6:46658905C>GN/A show variant in all transcripts   IGV
HGNC symbol TDRD6
Ensembl transcript ID ENST00000316081
Genbank transcript ID NM_001010870
UniProt peptide O60522
alteration type single base exchange
alteration region CDS
DNA changes c.3040C>G
cDNA.3040C>G
g.3294C>G
AA changes Q1014E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1014
frameshift no
known variant Reference ID: rs9381472
databasehomozygous (G/G)heterozygousallele carriers
1000G48311261609
ExAC92641423923503
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3880.386
0.7070.698
(flanking)2.1240.814
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 increased3298wt: 0.9593 / mu: 0.9792 (marginal change - not scored)wt: ACAGTTGTCATGTAG
mu: AGAGTTGTCATGTAG		 AGTT|gtca
Donor marginally increased3290wt: 0.9487 / mu: 0.9895 (marginal change - not scored)wt: ATTTTAGAACAGTTG
mu: ATTTTAGAAGAGTTG		 TTTA|gaac
Donor gained32880.79mu: ATATTTTAGAAGAGT ATTT|taga
Donor gained32930.96mu: TTAGAAGAGTTGTCA AGAA|gagt
distance from splice site 3007
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1014CQLARNANILEQLSCSITQLSKVL
mutated  all conserved    1014CQLARNANILEELSCSIT
Ptroglodytes  all identical  ENSPTRG00000018237  1014CQLARNANILEQLSCSI
Mmulatta  all identical  ENSMMUG00000019252  1015CQLARNASILEQLSCS
Fcatus  no alignment  ENSFCAG00000004344  n/a
Mmusculus  all identical  ENSMUSG00000040140  1019LEQLSYNIMQLSKA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0003891  1823IQLERDSKALELIELYLRKKDTL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10331088DOMAINTudor 5.might get lost (downstream of altered splice site)
12731273CONFLICTE -> K (in Ref. 4; AAC18034).might get lost (downstream of altered splice site)
13521411DOMAINTudor 6.might get lost (downstream of altered splice site)
14551455CONFLICTQ -> R (in Ref. 3; CAI45997).might get lost (downstream of altered splice site)
15671626DOMAINTudor 7.might get lost (downstream of altered splice site)
19551955CONFLICTM -> V (in Ref. 3; CAI45997).might get lost (downstream of altered splice site)
20162016CONFLICTA -> D (in Ref. 4; AAC18034).might get lost (downstream of altered splice site)
20262084DOMAINTudor 8.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6291 / 6291
position (AA) of stopcodon in wt / mu AA sequence 2097 / 2097
position of stopcodon in wt / mu cDNA 6291 / 6291
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 6
strand 1
last intron/exon boundary 6262
theoretical NMD boundary in CDS 6211
length of CDS 6291
coding sequence (CDS) position 3040
cDNA position
(for ins/del: last normal base / first normal base)		 3040
gDNA position
(for ins/del: last normal base / first normal base)		 3294
chromosomal position
(for ins/del: last normal base / first normal base)		 46658905
original gDNA sequence snippet GAAATGCAAATATTTTAGAACAGTTGTCATGTAGTATTACA
altered gDNA sequence snippet GAAATGCAAATATTTTAGAAGAGTTGTCATGTAGTATTACA
original cDNA sequence snippet GAAATGCAAATATTTTAGAACAGTTGTCATGTAGTATTACA
altered cDNA sequence snippet GAAATGCAAATATTTTAGAAGAGTTGTCATGTAGTATTACA
wildtype AA sequence MCSTPGMPAP GASLALRVSF VDVHPDVIPV QLWGLVGERR GEYLRLSREI QEAAATRGQW
ALGSASASPG ELCLVQVGLL WHRCRVVSRQ AQESRVFLLD EGRTITAGAG SLAPGRREFF
NLPSEVLGCV LAGLVPAGCG AGSGEPPQHW PADAVDFLSN LQGKEVHGCV LDVLLLHRLV
LLEVPDVFQQ MRELGLARRV PDSLFRSLLE RYLTAATASV GSGVPVLSRV PLKQKQPGLD
YFYPQLQLGV TEAVVITQVC HPHRIHCQLR SVSQEIHRLS ESMAQVYRGS TGTGDENSTS
ATWEEREESP DKPGSPCASC GLDGHWYRAL LLETFRPQRC AQVLHVDYGR KELVSCSSLR
YLLPEYFRMP VVTYPCALYG LWDGGRGWSR SQVGDLKTLI LGKAVNAKIE FYCSFEHVYY
VSLYGEDGIN LNRVFGVQSC CLADRVLQSQ ATEEEEPETS QSQSPAEEVD EEISLPALRS
IRLKMNAFYD AQVEFVKNPS EFWIRLRKHN VTFSKLMRRM CGFYSSASKL DGVVLKPEPD
DLCCVKWKEN GYYRAIVTKL DDKSVDVFLV DRGNSENVDW YDVRMLLPQF RQLPILAVKC
TLADIWPLGK TWSQEAVSFF KKTVLHKELV IHILDKQDHQ YVIEILDESR TGEENISKVI
AQAGYAKYQE FETKENILVN AHSPGHVSNH FTTESNKIPF AKTGEGEQKA KRENKTTSVS
KALSDTTVVT NGSTELVVQE KVKRASVYFP LMQNCLEIKP GSSSKGELEV GSTVEVRVSY
VENPGYFWCQ LTRNIQGLKT LMSDIQYYCK NTAAPHQRNT LACLAKRTVN RQWSRALISG
IQSVEHVNVT FVDYGDREMV SVKNIYSISE EFLKVKAQAF RCSLYNLIQP VGQNPFVWDV
KAIQAFNEFI DNAWQKNLEL KCTIFALASI NEELFNIVDL LTPFQSACHF LVEKRLARPV
KLQKPLESSV QLHSYFYSTH DMKIGSEELV YITHIDDPWT FYCQLARNAN ILEQLSCSIT
QLSKVLLNLK TSPLNPGTLC LAKYTDGNWY RGIVIEKEPK KVFFVDFGNI YVVTSDDLLP
IPSDAYDVLL LPMQAVRCSL SDIPDHIPEE VVVWFQETIL DKSLKALVVA KDPDGTLIIE
LYGDNIQISA SINKKLGLLS YKDRIRKKES EVLCSTTETL EEKNENMKLP CTEYLSKSVG
YKLPNKEILE ESYKPQINSS YKELKLLQSL TKTNLVTQYQ DSVGNKNSQV FPLTTEKKEE
ISAETPLKTA RVEATLSERK IGDSCDKDLP LKFCEFPQKT IMPGFKTTVY VSHINDLSDF
YVQLIEDEAE ISHLSERLNS VKTRPEYYVG PPLQRGDMIC AVFPEDNLWY RAVIKEQQPN
DLLSVQFIDY GNVSVVHTNK IGRLDLVNAI LPGLCIHCSL QGFEVPDNKN SKKMMHYFSQ
RTSEAAIRCE FVKFQDRWEV ILADEHGIIA DDMISRYALS EKSQVELSTQ VIKSASSKSV
NKSDIDTSVF LNWYNPEKKM IRAYATVIDG PEYFWCQFAD TEKLQCLEVE VQTAGEQVAD
RRNCIPCPYI GDPCIVRYRE DGHYYRALIT NICEDYLVSV RLVDFGNIED CVDPKALWAI
PSELLSVPMQ AFPCCLSGFN ISEGLCSQEG NDYFYEIITE DVLEITILEI RRDVCDIPLA
IVDLKSKGKS INEKMEKYSK TGIKSALPYE NIDSEIKQTL GSYNLDVGLK KLSNKAVQNK
IYMEQQTDEL AEITEKDVNI IGTKPSNFRD PKTDNICEGF ENPCKDKIDT EELEGELECH
LVDKAEFDDK YLITGFNTLL PHANETKEIL ELNSLEVPLS PDDESKEFLE LESIELQNSL
VVDEEKGELS PVPPNVPLSQ ECVTKGAMEL FTLQLPLSCE AEKQPELELP TAQLPLDDKM
DPLSLGVSQK AQESMCTEDM RKSSCVESFD DQRRMSLHLH GADCDPKTQN EMNICEEEFV
EYKNRDAISA LMPLFSEEES SDGSKHNNGL PDHISAQLQN TYTLKAFTVG SKCVVWSSLR
NTWSKCEILE TAEEGTRVLN LSNGMEEIVN PENVWNGIPK LDKSPPEKRG LEVMEI*
mutated AA sequence MCSTPGMPAP GASLALRVSF VDVHPDVIPV QLWGLVGERR GEYLRLSREI QEAAATRGQW
ALGSASASPG ELCLVQVGLL WHRCRVVSRQ AQESRVFLLD EGRTITAGAG SLAPGRREFF
NLPSEVLGCV LAGLVPAGCG AGSGEPPQHW PADAVDFLSN LQGKEVHGCV LDVLLLHRLV
LLEVPDVFQQ MRELGLARRV PDSLFRSLLE RYLTAATASV GSGVPVLSRV PLKQKQPGLD
YFYPQLQLGV TEAVVITQVC HPHRIHCQLR SVSQEIHRLS ESMAQVYRGS TGTGDENSTS
ATWEEREESP DKPGSPCASC GLDGHWYRAL LLETFRPQRC AQVLHVDYGR KELVSCSSLR
YLLPEYFRMP VVTYPCALYG LWDGGRGWSR SQVGDLKTLI LGKAVNAKIE FYCSFEHVYY
VSLYGEDGIN LNRVFGVQSC CLADRVLQSQ ATEEEEPETS QSQSPAEEVD EEISLPALRS
IRLKMNAFYD AQVEFVKNPS EFWIRLRKHN VTFSKLMRRM CGFYSSASKL DGVVLKPEPD
DLCCVKWKEN GYYRAIVTKL DDKSVDVFLV DRGNSENVDW YDVRMLLPQF RQLPILAVKC
TLADIWPLGK TWSQEAVSFF KKTVLHKELV IHILDKQDHQ YVIEILDESR TGEENISKVI
AQAGYAKYQE FETKENILVN AHSPGHVSNH FTTESNKIPF AKTGEGEQKA KRENKTTSVS
KALSDTTVVT NGSTELVVQE KVKRASVYFP LMQNCLEIKP GSSSKGELEV GSTVEVRVSY
VENPGYFWCQ LTRNIQGLKT LMSDIQYYCK NTAAPHQRNT LACLAKRTVN RQWSRALISG
IQSVEHVNVT FVDYGDREMV SVKNIYSISE EFLKVKAQAF RCSLYNLIQP VGQNPFVWDV
KAIQAFNEFI DNAWQKNLEL KCTIFALASI NEELFNIVDL LTPFQSACHF LVEKRLARPV
KLQKPLESSV QLHSYFYSTH DMKIGSEELV YITHIDDPWT FYCQLARNAN ILEELSCSIT
QLSKVLLNLK TSPLNPGTLC LAKYTDGNWY RGIVIEKEPK KVFFVDFGNI YVVTSDDLLP
IPSDAYDVLL LPMQAVRCSL SDIPDHIPEE VVVWFQETIL DKSLKALVVA KDPDGTLIIE
LYGDNIQISA SINKKLGLLS YKDRIRKKES EVLCSTTETL EEKNENMKLP CTEYLSKSVG
YKLPNKEILE ESYKPQINSS YKELKLLQSL TKTNLVTQYQ DSVGNKNSQV FPLTTEKKEE
ISAETPLKTA RVEATLSERK IGDSCDKDLP LKFCEFPQKT IMPGFKTTVY VSHINDLSDF
YVQLIEDEAE ISHLSERLNS VKTRPEYYVG PPLQRGDMIC AVFPEDNLWY RAVIKEQQPN
DLLSVQFIDY GNVSVVHTNK IGRLDLVNAI LPGLCIHCSL QGFEVPDNKN SKKMMHYFSQ
RTSEAAIRCE FVKFQDRWEV ILADEHGIIA DDMISRYALS EKSQVELSTQ VIKSASSKSV
NKSDIDTSVF LNWYNPEKKM IRAYATVIDG PEYFWCQFAD TEKLQCLEVE VQTAGEQVAD
RRNCIPCPYI GDPCIVRYRE DGHYYRALIT NICEDYLVSV RLVDFGNIED CVDPKALWAI
PSELLSVPMQ AFPCCLSGFN ISEGLCSQEG NDYFYEIITE DVLEITILEI RRDVCDIPLA
IVDLKSKGKS INEKMEKYSK TGIKSALPYE NIDSEIKQTL GSYNLDVGLK KLSNKAVQNK
IYMEQQTDEL AEITEKDVNI IGTKPSNFRD PKTDNICEGF ENPCKDKIDT EELEGELECH
LVDKAEFDDK YLITGFNTLL PHANETKEIL ELNSLEVPLS PDDESKEFLE LESIELQNSL
VVDEEKGELS PVPPNVPLSQ ECVTKGAMEL FTLQLPLSCE AEKQPELELP TAQLPLDDKM
DPLSLGVSQK AQESMCTEDM RKSSCVESFD DQRRMSLHLH GADCDPKTQN EMNICEEEFV
EYKNRDAISA LMPLFSEEES SDGSKHNNGL PDHISAQLQN TYTLKAFTVG SKCVVWSSLR
NTWSKCEILE TAEEGTRVLN LSNGMEEIVN PENVWNGIPK LDKSPPEKRG LEVMEI*
speed 0.77 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: 0.991913134364834 (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) chr6:46658905C>GN/A show variant in all transcripts   IGV
HGNC symbol TDRD6
Ensembl transcript ID ENST00000544460
Genbank transcript ID NM_001168359
UniProt peptide O60522
alteration type single base exchange
alteration region CDS
DNA changes c.3040C>G
cDNA.3294C>G
g.3294C>G
AA changes Q1014E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1014
frameshift no
known variant Reference ID: rs9381472
databasehomozygous (G/G)heterozygousallele carriers
1000G48311261609
ExAC92641423923503
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3880.386
0.7070.698
(flanking)2.1240.814
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 increased3298wt: 0.9593 / mu: 0.9792 (marginal change - not scored)wt: ACAGTTGTCATGTAG
mu: AGAGTTGTCATGTAG		 AGTT|gtca
Donor marginally increased3290wt: 0.9487 / mu: 0.9895 (marginal change - not scored)wt: ATTTTAGAACAGTTG
mu: ATTTTAGAAGAGTTG		 TTTA|gaac
Donor gained32880.79mu: ATATTTTAGAAGAGT ATTT|taga
Donor gained32930.96mu: TTAGAAGAGTTGTCA AGAA|gagt
distance from splice site 3007
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1014CQLARNANILEQLSCSITQLSKVL
mutated  all conserved    1014CQLARNANILEELSCSIT
Ptroglodytes  all identical  ENSPTRG00000018237  1014CQLARNANILEQLSCSI
Mmulatta  all identical  ENSMMUG00000019252  1015CQLARNASILEQLSCS
Fcatus  no alignment  ENSFCAG00000004344  n/a
Mmusculus  all identical  ENSMUSG00000040140  1019LEQLSYNIMQLSKA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0003891  1823IQLERDSKALELIELYLRKKDTL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10331088DOMAINTudor 5.might get lost (downstream of altered splice site)
12731273CONFLICTE -> K (in Ref. 4; AAC18034).might get lost (downstream of altered splice site)
13521411DOMAINTudor 6.might get lost (downstream of altered splice site)
14551455CONFLICTQ -> R (in Ref. 3; CAI45997).might get lost (downstream of altered splice site)
15671626DOMAINTudor 7.might get lost (downstream of altered splice site)
19551955CONFLICTM -> V (in Ref. 3; CAI45997).might get lost (downstream of altered splice site)
20162016CONFLICTA -> D (in Ref. 4; AAC18034).might get lost (downstream of altered splice site)
20262084DOMAINTudor 8.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6201 / 6201
position (AA) of stopcodon in wt / mu AA sequence 2067 / 2067
position of stopcodon in wt / mu cDNA 6455 / 6455
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 255 / 255
chromosome 6
strand 1
last intron/exon boundary 6426
theoretical NMD boundary in CDS 6121
length of CDS 6201
coding sequence (CDS) position 3040
cDNA position
(for ins/del: last normal base / first normal base)		 3294
gDNA position
(for ins/del: last normal base / first normal base)		 3294
chromosomal position
(for ins/del: last normal base / first normal base)		 46658905
original gDNA sequence snippet GAAATGCAAATATTTTAGAACAGTTGTCATGTAGTATTACA
altered gDNA sequence snippet GAAATGCAAATATTTTAGAAGAGTTGTCATGTAGTATTACA
original cDNA sequence snippet GAAATGCAAATATTTTAGAACAGTTGTCATGTAGTATTACA
altered cDNA sequence snippet GAAATGCAAATATTTTAGAAGAGTTGTCATGTAGTATTACA
wildtype AA sequence MCSTPGMPAP GASLALRVSF VDVHPDVIPV QLWGLVGERR GEYLRLSREI QEAAATRGQW
ALGSASASPG ELCLVQVGLL WHRCRVVSRQ AQESRVFLLD EGRTITAGAG SLAPGRREFF
NLPSEVLGCV LAGLVPAGCG AGSGEPPQHW PADAVDFLSN LQGKEVHGCV LDVLLLHRLV
LLEVPDVFQQ MRELGLARRV PDSLFRSLLE RYLTAATASV GSGVPVLSRV PLKQKQPGLD
YFYPQLQLGV TEAVVITQVC HPHRIHCQLR SVSQEIHRLS ESMAQVYRGS TGTGDENSTS
ATWEEREESP DKPGSPCASC GLDGHWYRAL LLETFRPQRC AQVLHVDYGR KELVSCSSLR
YLLPEYFRMP VVTYPCALYG LWDGGRGWSR SQVGDLKTLI LGKAVNAKIE FYCSFEHVYY
VSLYGEDGIN LNRVFGVQSC CLADRVLQSQ ATEEEEPETS QSQSPAEEVD EEISLPALRS
IRLKMNAFYD AQVEFVKNPS EFWIRLRKHN VTFSKLMRRM CGFYSSASKL DGVVLKPEPD
DLCCVKWKEN GYYRAIVTKL DDKSVDVFLV DRGNSENVDW YDVRMLLPQF RQLPILAVKC
TLADIWPLGK TWSQEAVSFF KKTVLHKELV IHILDKQDHQ YVIEILDESR TGEENISKVI
AQAGYAKYQE FETKENILVN AHSPGHVSNH FTTESNKIPF AKTGEGEQKA KRENKTTSVS
KALSDTTVVT NGSTELVVQE KVKRASVYFP LMQNCLEIKP GSSSKGELEV GSTVEVRVSY
VENPGYFWCQ LTRNIQGLKT LMSDIQYYCK NTAAPHQRNT LACLAKRTVN RQWSRALISG
IQSVEHVNVT FVDYGDREMV SVKNIYSISE EFLKVKAQAF RCSLYNLIQP VGQNPFVWDV
KAIQAFNEFI DNAWQKNLEL KCTIFALASI NEELFNIVDL LTPFQSACHF LVEKRLARPV
KLQKPLESSV QLHSYFYSTH DMKIGSEELV YITHIDDPWT FYCQLARNAN ILEQLSCSIT
QLSKVLLNLK TSPLNPGTLC LAKYTDGNWY RGIVIEKEPK KVFFVDFGNI YVVTSDDLLP
IPSDAYDVLL LPMQAVRCSL SDIPDHIPEE VVVWFQETIL DKSLKALVVA KDPDGTLIIE
LYGDNIQISA SINKKLGLLS YKDRIRKKES EVLCSTTETL EEKNENMKLP CTEYLSKSVG
YKLPNKEILE ESYKPQINSS YKELKLLQSL TKTNLVTQYQ DSVGNKNSQV FPLTTEKKEE
ISAETPLKTA RVEATLSERK IGDSCDKDLP LKFCEFPQKT IMPGFKTTVY VSHINDLSDF
YVQLIEDEAE ISHLSERLNS VKTRPEYYVG PPLQRGDMIC AVFPEDNLWY RAVIKEQQPN
DLLSVQFIDY GNVSVVHTNK IGRLDLVNAI LPGLCIHCSL QGFEVPDNKN SKKMMHYFSQ
RTSEAAIRCE FVKFQDRWEV ILADEHGIIA DDMISRYALS EKSQVELSTQ VIKSASSKSV
NKSDIDTSVF LNWYNPEKKM IRAYATVIDG PEYFWCQFAD TEKLQCLEVE VQTAGEQVAD
RRNCIPCPYI GDPCIVRYRE DGHYYRALIT NICEDYLVSV RLVDFGNIED CVDPKALWAI
PSELLSVPMQ AFPCCLSGFN ISEGLCSQEG NDYFYEIITE DVLEITILEI RRDVCDIPLA
IVDLKSKGKS INEKMEKYSK TGIKSALPYE NIDSEIKQTL GSYNLDVGLK KLSNKAVQNK
IYMEQQTDEL AEITEKDVNI IGTKPSNFRD PKTDNICEGF ENPCKDKIDT EELEGELECH
LVDKAEFDDK YLITGFNTLL PHANETKEIL ELNSLEVPLS PDDESKEFLE LESIELQNSL
VVDEEKGELS PVPPNVPLSQ ECVTKGAMEL FTLQLPLSCE AEKQPELELP TAQLPLDDKM
DPLSLGVSQK AQESMCTEDM RKSSCVESFD DQRRMSLHLH GADCDPKTQN EMNICEEEFV
EYKNRDAISA LMPLFSEEES SDGSKHNNGL PDHISAQLQN TYTLKAFTVG SKCVVWSSLR
NTWSKCEILE TAEEGTRKRG LEVMEI*
mutated AA sequence MCSTPGMPAP GASLALRVSF VDVHPDVIPV QLWGLVGERR GEYLRLSREI QEAAATRGQW
ALGSASASPG ELCLVQVGLL WHRCRVVSRQ AQESRVFLLD EGRTITAGAG SLAPGRREFF
NLPSEVLGCV LAGLVPAGCG AGSGEPPQHW PADAVDFLSN LQGKEVHGCV LDVLLLHRLV
LLEVPDVFQQ MRELGLARRV PDSLFRSLLE RYLTAATASV GSGVPVLSRV PLKQKQPGLD
YFYPQLQLGV TEAVVITQVC HPHRIHCQLR SVSQEIHRLS ESMAQVYRGS TGTGDENSTS
ATWEEREESP DKPGSPCASC GLDGHWYRAL LLETFRPQRC AQVLHVDYGR KELVSCSSLR
YLLPEYFRMP VVTYPCALYG LWDGGRGWSR SQVGDLKTLI LGKAVNAKIE FYCSFEHVYY
VSLYGEDGIN LNRVFGVQSC CLADRVLQSQ ATEEEEPETS QSQSPAEEVD EEISLPALRS
IRLKMNAFYD AQVEFVKNPS EFWIRLRKHN VTFSKLMRRM CGFYSSASKL DGVVLKPEPD
DLCCVKWKEN GYYRAIVTKL DDKSVDVFLV DRGNSENVDW YDVRMLLPQF RQLPILAVKC
TLADIWPLGK TWSQEAVSFF KKTVLHKELV IHILDKQDHQ YVIEILDESR TGEENISKVI
AQAGYAKYQE FETKENILVN AHSPGHVSNH FTTESNKIPF AKTGEGEQKA KRENKTTSVS
KALSDTTVVT NGSTELVVQE KVKRASVYFP LMQNCLEIKP GSSSKGELEV GSTVEVRVSY
VENPGYFWCQ LTRNIQGLKT LMSDIQYYCK NTAAPHQRNT LACLAKRTVN RQWSRALISG
IQSVEHVNVT FVDYGDREMV SVKNIYSISE EFLKVKAQAF RCSLYNLIQP VGQNPFVWDV
KAIQAFNEFI DNAWQKNLEL KCTIFALASI NEELFNIVDL LTPFQSACHF LVEKRLARPV
KLQKPLESSV QLHSYFYSTH DMKIGSEELV YITHIDDPWT FYCQLARNAN ILEELSCSIT
QLSKVLLNLK TSPLNPGTLC LAKYTDGNWY RGIVIEKEPK KVFFVDFGNI YVVTSDDLLP
IPSDAYDVLL LPMQAVRCSL SDIPDHIPEE VVVWFQETIL DKSLKALVVA KDPDGTLIIE
LYGDNIQISA SINKKLGLLS YKDRIRKKES EVLCSTTETL EEKNENMKLP CTEYLSKSVG
YKLPNKEILE ESYKPQINSS YKELKLLQSL TKTNLVTQYQ DSVGNKNSQV FPLTTEKKEE
ISAETPLKTA RVEATLSERK IGDSCDKDLP LKFCEFPQKT IMPGFKTTVY VSHINDLSDF
YVQLIEDEAE ISHLSERLNS VKTRPEYYVG PPLQRGDMIC AVFPEDNLWY RAVIKEQQPN
DLLSVQFIDY GNVSVVHTNK IGRLDLVNAI LPGLCIHCSL QGFEVPDNKN SKKMMHYFSQ
RTSEAAIRCE FVKFQDRWEV ILADEHGIIA DDMISRYALS EKSQVELSTQ VIKSASSKSV
NKSDIDTSVF LNWYNPEKKM IRAYATVIDG PEYFWCQFAD TEKLQCLEVE VQTAGEQVAD
RRNCIPCPYI GDPCIVRYRE DGHYYRALIT NICEDYLVSV RLVDFGNIED CVDPKALWAI
PSELLSVPMQ AFPCCLSGFN ISEGLCSQEG NDYFYEIITE DVLEITILEI RRDVCDIPLA
IVDLKSKGKS INEKMEKYSK TGIKSALPYE NIDSEIKQTL GSYNLDVGLK KLSNKAVQNK
IYMEQQTDEL AEITEKDVNI IGTKPSNFRD PKTDNICEGF ENPCKDKIDT EELEGELECH
LVDKAEFDDK YLITGFNTLL PHANETKEIL ELNSLEVPLS PDDESKEFLE LESIELQNSL
VVDEEKGELS PVPPNVPLSQ ECVTKGAMEL FTLQLPLSCE AEKQPELELP TAQLPLDDKM
DPLSLGVSQK AQESMCTEDM RKSSCVESFD DQRRMSLHLH GADCDPKTQN EMNICEEEFV
EYKNRDAISA LMPLFSEEES SDGSKHNNGL PDHISAQLQN TYTLKAFTVG SKCVVWSSLR
NTWSKCEILE TAEEGTRKRG LEVMEI*
speed 0.76 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

Problems