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: ENST00000432398
Querying Taster for transcript #2: ENST00000265379
MT speed 0 s - this script 4.0812 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
COL6A5polymorphism_automatic5.50004486399303e-13simple_aaeaffectedS1589Psingle base exchangers16827497show file
COL6A5polymorphism_automatic5.50004486399303e-13simple_aaeaffectedS1589Psingle base exchangers16827497show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999945 (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) chr3:130134492T>CN/A show variant in all transcripts   IGV
HGNC symbol COL6A5
Ensembl transcript ID ENST00000432398
Genbank transcript ID NM_153264
UniProt peptide A8TX70
alteration type single base exchange
alteration region CDS
DNA changes c.4765T>C
cDNA.5259T>C
g.70134T>C
AA changes S1589P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1589
frameshift no
known variant Reference ID: rs16827497
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC391242798191
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.280.03
-0.9680
(flanking)-1.8540
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased70127wt: 0.9673 / mu: 0.9714 (marginal change - not scored)wt: GTATTTCCTTTGTTACCACTAAAGGGGTCACAGGGAAATCC
mu: GTATTTCCTTTGTTACCACTAAAGGGGCCACAGGGAAATCC		 acta|AAGG
Acc marginally increased70128wt: 0.8205 / mu: 0.8340 (marginal change - not scored)wt: TATTTCCTTTGTTACCACTAAAGGGGTCACAGGGAAATCCT
mu: TATTTCCTTTGTTACCACTAAAGGGGCCACAGGGAAATCCT		 ctaa|AGGG
Donor marginally increased70138wt: 0.9975 / mu: 0.9988 (marginal change - not scored)wt: GTCACAGGGAAATCC
mu: GCCACAGGGAAATCC		 CACA|ggga
Donor gained701250.36mu: TACCACTAAAGGGGC CCAC|taaa
Donor gained701290.58mu: ACTAAAGGGGCCACA TAAA|gggg
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1589LGAEGLQGPQGSQGNPGRKGEKGS
mutated  not conserved    1589LGAEGLQGPQGPQGNPGRKGEKG
Ptroglodytes  all identical  ENSPTRG00000015386  1589LGAEGLQGPQGSQGNPGRKGEKG
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000079752  1747QGLPGGSGPQGPFGPPGPVGQRG
Dmelanogaster  no homologue    
Celegans  no alignment  C18H7.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
13951728REGIONTriple-helical region.lost
17292615REGIONNonhelical region.might get lost (downstream of altered splice site)
17581965DOMAINVWFA 8.might get lost (downstream of altered splice site)
19632154DOMAINVWFA 9.might get lost (downstream of altered splice site)
22912487DOMAINVWFA 10.might get lost (downstream of altered splice site)
24822482CONFLICTK -> R (in Ref. 4; BAC04092).might get lost (downstream of altered splice site)
25092509CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25122512CONFLICTS -> P (in Ref. 4; BAC04092).might get lost (downstream of altered splice site)
25602560CONFLICTS -> N (in Ref. 2; CAP20002/CAP20003 and 4; BAC04092).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7581 / 7581
position (AA) of stopcodon in wt / mu AA sequence 2527 / 2527
position of stopcodon in wt / mu cDNA 8075 / 8075
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 495 / 495
chromosome 3
strand 1
last intron/exon boundary 8069
theoretical NMD boundary in CDS 7524
length of CDS 7581
coding sequence (CDS) position 4765
cDNA position
(for ins/del: last normal base / first normal base)		 5259
gDNA position
(for ins/del: last normal base / first normal base)		 70134
chromosomal position
(for ins/del: last normal base / first normal base)		 130134492
original gDNA sequence snippet CTTTGTTACCACTAAAGGGGTCACAGGGAAATCCTGGCAGA
altered gDNA sequence snippet CTTTGTTACCACTAAAGGGGCCACAGGGAAATCCTGGCAGA
original cDNA sequence snippet GATTACAAGGCCCACAGGGGTCACAGGGAAATCCTGGCAGA
altered cDNA sequence snippet GATTACAAGGCCCACAGGGGCCACAGGGAAATCCTGGCAGA
wildtype AA sequence MKILLIIFVL IIWTETLADQ SPGPGPVYAD VVFLVDSSDH LGPKSFPFVK TFINKMINSL
PIEANKYRVA LAQYSDEFHS EFHLSTFKGR SPMLNHLKKN FQFIGGSLQI GKALQEAHRT
YFSAPINGRD RKQFPPILVV LASAESEDEV EEASKALQKD GVKIISVGVQ KASEENLKAM
ATSHFHFNLR TIRDLSTFSQ NMTQIIKDVT KYKEGAVDAD MQVHFPISCQ KDSLADLVFL
VDESLGTGGN LRHLQTFLEN ITSSMDVKEN CMRLGLMSYS NSAKTISFLK SSTTQSEFQQ
QIKNLSIQVG KSNTGAAIDQ MRRDGFSESY GSRRAQGVPQ IAVLVTHRPS DDEVHDAALN
LRLEDVNVFA LSIQGANNTQ LEEIVSYPPE QTISTLKSYA DLETYSTKFL KKLQNEIWSQ
ISTYAEQRNL DKTGCVDTKE ADIHFLIDGS SSIQEKQFEQ IKRFMLEVTE MFSIGPDKVR
VGVVQYSDDT EVEFYITDYS NDIDLRKAIF NIKQLTGGTY TGKALDYILQ IIKNGMKDRM
SKVPCYLIVL TDGMSTDRVV EPAKRLRAEQ ITVHAVGIGA ANKIELQEIA GKEERVSFGQ
NFDALKSIKN EVVREICAEK GCEDMKADIM FLVDSSWSIG NENFRKMKIF MKNLLTKIQI
GADKTQIGVV QFSDKTKEEF QLNRYFTQQE ISDAIDRMSL INEGTLTGKA LNFVGQYFTH
SKGARLGAKK FLILITDGVA QDDVRDPARI LRGKDVTIFS VGVYNANRSQ LEEISGDSSL
VFHVENFDHL KALERKLIFR VCALHDCKRI TLLDVVFVLD HSGSIKKQYQ DHMINLTIHL
VKKADVGRDR VQFGALKYSD QPNILFYLNT YSNRSAIIEN LRKRRDTGGN TYTAKALKHA
NALFTEEHGS RIKQNVKQML IVITDGESHD HDQLNDTALE LRNKGITIFA VGVGKANQKE
LEGMAGNKNN TIYVDNFDKL KDVFTLVQER MCTEAPEVCH LQEADVIFLC DGSDRVSNSD
FVTMTTFLSD LIDNFDIQSQ RMKIGMAQFG SNYQSIIELK NSLTKTQWKT QIQNVSKSGG
FPRIDFALKK VSNMFNLHAG GRRNAGVPQT LVVITSGDPR YDVADAVKTL KDLGICVLVL
GIGDVYKEHL LPITGNSEKI ITFQDFDKLK NVDVKKRIIR EICQSCGKTN CFMDIVVGFD
ISTHVQGQPL FQGHPQLESY LPGILEDISS IKGVSCGAGT EAQVSLAFKV NSDQGFPAKF
QIYQKAVFDS LLQVNVSGPT HLNAQFLRSL WDTFKDKSAS RGQVLLIFSD GLQSESNIML
ENQSDRLREA GLDALLVVSL NTTAHHEFSS FEFGKRFDYR THLTIGMREL GKKLSQYLGN
IAERTCCCTF CKCPGIPGPH GTRGLQAMKG SQGLKGSRGH RGEDGNPGVR GDTGPQGDKG
IAGCPGAWGQ KGLKGFSGPK GGHGDDGIDG LDGEEGCHGF PGIKGEKGDP GSQGSPGSRG
APGQYGEKGF PGDPGNPGQN NNIKGQKGSK GEQGRQGRSG QKGVQGSPSS RGSRGREGQR
GLRGVSGEPG NPGPTGTLGA EGLQGPQGSQ GNPGRKGEKG SQGQKGPQGS PGLMGAKGST
GRPGLLGKKG EPGLPGDLGP VGQTGQRGRQ GDSGIPGYGQ MGRKGVKGPR GFPGDAGQKG
DIGNPGIPGG PGPKGFRGLA LTVGLKGEEG SRGLPGPPGQ RGIKGMAGQP VYSQCDLIRF
LREHSLCSLE KCPAYPTELV FALDNSYDVT EESFNKTRDI ITSIVNDLNI RENNCPVGAR
VAMVSYNSGT SYLIRWSDYN RKKQLLQQLS QIKYQDTTEP RDVGNAMRFV TRNVFKRTYA
GANVRRVAVF FSNGQTASRS SIITATMEFS ALDISPTVFA FDERVFLEAF GFDNTGTFQV
IPVPPNGENQ TLERLRRCAL CYDKCFPNAC IREAFLPEDS YMDVVFLIDN SRNIAKDEFK
AVKALVSSVI DNFNIASDPL ISDSGDRIAL LSYSPWESSR RKMGTVKTEF DFITYDNQLL
MKNHIQTSFQ QLNGEATIGR ALLWTTENLF PETPYLRKHK VIFVVSAGEN YERKEFVKMM
ALRAKCQGYV IFVISLGSTR KDDMEELASY PLDQHLIQLG RIHKPDLNYI AKFLKPFLYS
VRRGFNQYPP PMLEDACRLI NLGGENIQND GFQFVTELQE DFLGGNGFIG QELNSGRESP
FVKTEDNGSD YLVYLPSQMF EPQKLMINYE KDQKSAEIAS LTSGHENYGR KEEPDHTYEP
GDVSLQEYYM DVAFLIDASQ RVGSDEFKEV KAFITSVLDY FHIAPTPLTS TLGDRVAVLS
YSPPGYMPNT EECPVYLEFD LVTYNSIHQM KHHLQDSQQL NGDVFIGHAL QWTIDNVFVG
TPNLRKNKVI FVISAGETNS LDKDVLRNVS LRAKCQGYSI FVFSFGPKHN DKELEELASH
PLDHHLVQLG RTHKPDWNYI IKFVKPFVHL IRRAINKYPT EDMKATCVNM TSPNPENGGT
ENTVLW*
mutated AA sequence MKILLIIFVL IIWTETLADQ SPGPGPVYAD VVFLVDSSDH LGPKSFPFVK TFINKMINSL
PIEANKYRVA LAQYSDEFHS EFHLSTFKGR SPMLNHLKKN FQFIGGSLQI GKALQEAHRT
YFSAPINGRD RKQFPPILVV LASAESEDEV EEASKALQKD GVKIISVGVQ KASEENLKAM
ATSHFHFNLR TIRDLSTFSQ NMTQIIKDVT KYKEGAVDAD MQVHFPISCQ KDSLADLVFL
VDESLGTGGN LRHLQTFLEN ITSSMDVKEN CMRLGLMSYS NSAKTISFLK SSTTQSEFQQ
QIKNLSIQVG KSNTGAAIDQ MRRDGFSESY GSRRAQGVPQ IAVLVTHRPS DDEVHDAALN
LRLEDVNVFA LSIQGANNTQ LEEIVSYPPE QTISTLKSYA DLETYSTKFL KKLQNEIWSQ
ISTYAEQRNL DKTGCVDTKE ADIHFLIDGS SSIQEKQFEQ IKRFMLEVTE MFSIGPDKVR
VGVVQYSDDT EVEFYITDYS NDIDLRKAIF NIKQLTGGTY TGKALDYILQ IIKNGMKDRM
SKVPCYLIVL TDGMSTDRVV EPAKRLRAEQ ITVHAVGIGA ANKIELQEIA GKEERVSFGQ
NFDALKSIKN EVVREICAEK GCEDMKADIM FLVDSSWSIG NENFRKMKIF MKNLLTKIQI
GADKTQIGVV QFSDKTKEEF QLNRYFTQQE ISDAIDRMSL INEGTLTGKA LNFVGQYFTH
SKGARLGAKK FLILITDGVA QDDVRDPARI LRGKDVTIFS VGVYNANRSQ LEEISGDSSL
VFHVENFDHL KALERKLIFR VCALHDCKRI TLLDVVFVLD HSGSIKKQYQ DHMINLTIHL
VKKADVGRDR VQFGALKYSD QPNILFYLNT YSNRSAIIEN LRKRRDTGGN TYTAKALKHA
NALFTEEHGS RIKQNVKQML IVITDGESHD HDQLNDTALE LRNKGITIFA VGVGKANQKE
LEGMAGNKNN TIYVDNFDKL KDVFTLVQER MCTEAPEVCH LQEADVIFLC DGSDRVSNSD
FVTMTTFLSD LIDNFDIQSQ RMKIGMAQFG SNYQSIIELK NSLTKTQWKT QIQNVSKSGG
FPRIDFALKK VSNMFNLHAG GRRNAGVPQT LVVITSGDPR YDVADAVKTL KDLGICVLVL
GIGDVYKEHL LPITGNSEKI ITFQDFDKLK NVDVKKRIIR EICQSCGKTN CFMDIVVGFD
ISTHVQGQPL FQGHPQLESY LPGILEDISS IKGVSCGAGT EAQVSLAFKV NSDQGFPAKF
QIYQKAVFDS LLQVNVSGPT HLNAQFLRSL WDTFKDKSAS RGQVLLIFSD GLQSESNIML
ENQSDRLREA GLDALLVVSL NTTAHHEFSS FEFGKRFDYR THLTIGMREL GKKLSQYLGN
IAERTCCCTF CKCPGIPGPH GTRGLQAMKG SQGLKGSRGH RGEDGNPGVR GDTGPQGDKG
IAGCPGAWGQ KGLKGFSGPK GGHGDDGIDG LDGEEGCHGF PGIKGEKGDP GSQGSPGSRG
APGQYGEKGF PGDPGNPGQN NNIKGQKGSK GEQGRQGRSG QKGVQGSPSS RGSRGREGQR
GLRGVSGEPG NPGPTGTLGA EGLQGPQGPQ GNPGRKGEKG SQGQKGPQGS PGLMGAKGST
GRPGLLGKKG EPGLPGDLGP VGQTGQRGRQ GDSGIPGYGQ MGRKGVKGPR GFPGDAGQKG
DIGNPGIPGG PGPKGFRGLA LTVGLKGEEG SRGLPGPPGQ RGIKGMAGQP VYSQCDLIRF
LREHSLCSLE KCPAYPTELV FALDNSYDVT EESFNKTRDI ITSIVNDLNI RENNCPVGAR
VAMVSYNSGT SYLIRWSDYN RKKQLLQQLS QIKYQDTTEP RDVGNAMRFV TRNVFKRTYA
GANVRRVAVF FSNGQTASRS SIITATMEFS ALDISPTVFA FDERVFLEAF GFDNTGTFQV
IPVPPNGENQ TLERLRRCAL CYDKCFPNAC IREAFLPEDS YMDVVFLIDN SRNIAKDEFK
AVKALVSSVI DNFNIASDPL ISDSGDRIAL LSYSPWESSR RKMGTVKTEF DFITYDNQLL
MKNHIQTSFQ QLNGEATIGR ALLWTTENLF PETPYLRKHK VIFVVSAGEN YERKEFVKMM
ALRAKCQGYV IFVISLGSTR KDDMEELASY PLDQHLIQLG RIHKPDLNYI AKFLKPFLYS
VRRGFNQYPP PMLEDACRLI NLGGENIQND GFQFVTELQE DFLGGNGFIG QELNSGRESP
FVKTEDNGSD YLVYLPSQMF EPQKLMINYE KDQKSAEIAS LTSGHENYGR KEEPDHTYEP
GDVSLQEYYM DVAFLIDASQ RVGSDEFKEV KAFITSVLDY FHIAPTPLTS TLGDRVAVLS
YSPPGYMPNT EECPVYLEFD LVTYNSIHQM KHHLQDSQQL NGDVFIGHAL QWTIDNVFVG
TPNLRKNKVI FVISAGETNS LDKDVLRNVS LRAKCQGYSI FVFSFGPKHN DKELEELASH
PLDHHLVQLG RTHKPDWNYI IKFVKPFVHL IRRAINKYPT EDMKATCVNM TSPNPENGGT
ENTVLW*
speed 1.01 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: 0.99999999999945 (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) chr3:130134492T>CN/A show variant in all transcripts   IGV
HGNC symbol COL6A5
Ensembl transcript ID ENST00000265379
Genbank transcript ID N/A
UniProt peptide A8TX70
alteration type single base exchange
alteration region CDS
DNA changes c.4765T>C
cDNA.5259T>C
g.70134T>C
AA changes S1589P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1589
frameshift no
known variant Reference ID: rs16827497
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC391242798191
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.280.03
-0.9680
(flanking)-1.8540
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased70127wt: 0.9673 / mu: 0.9714 (marginal change - not scored)wt: GTATTTCCTTTGTTACCACTAAAGGGGTCACAGGGAAATCC
mu: GTATTTCCTTTGTTACCACTAAAGGGGCCACAGGGAAATCC		 acta|AAGG
Acc marginally increased70128wt: 0.8205 / mu: 0.8340 (marginal change - not scored)wt: TATTTCCTTTGTTACCACTAAAGGGGTCACAGGGAAATCCT
mu: TATTTCCTTTGTTACCACTAAAGGGGCCACAGGGAAATCCT		 ctaa|AGGG
Donor marginally increased70138wt: 0.9975 / mu: 0.9988 (marginal change - not scored)wt: GTCACAGGGAAATCC
mu: GCCACAGGGAAATCC		 CACA|ggga
Donor gained701250.36mu: TACCACTAAAGGGGC CCAC|taaa
Donor gained701290.58mu: ACTAAAGGGGCCACA TAAA|gggg
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1589LGAEGLQGPQGSQGNPGRKGEKGS
mutated  not conserved    1589LGAEGLQGPQGPQGNPGRKGEKG
Ptroglodytes  all identical  ENSPTRG00000015386  1589LGAEGLQGPQGSQGNPGRKGEKG
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000079752  1747QGLPGGSGPQGPFGPPGPVGQRG
Dmelanogaster  no homologue    
Celegans  no alignment  C18H7.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
13951728REGIONTriple-helical region.lost
17292615REGIONNonhelical region.might get lost (downstream of altered splice site)
17581965DOMAINVWFA 8.might get lost (downstream of altered splice site)
19632154DOMAINVWFA 9.might get lost (downstream of altered splice site)
22912487DOMAINVWFA 10.might get lost (downstream of altered splice site)
24822482CONFLICTK -> R (in Ref. 4; BAC04092).might get lost (downstream of altered splice site)
25092509CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25122512CONFLICTS -> P (in Ref. 4; BAC04092).might get lost (downstream of altered splice site)
25602560CONFLICTS -> N (in Ref. 2; CAP20002/CAP20003 and 4; BAC04092).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7848 / 7848
position (AA) of stopcodon in wt / mu AA sequence 2616 / 2616
position of stopcodon in wt / mu cDNA 8342 / 8342
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 495 / 495
chromosome 3
strand 1
last intron/exon boundary 8417
theoretical NMD boundary in CDS 7872
length of CDS 7848
coding sequence (CDS) position 4765
cDNA position
(for ins/del: last normal base / first normal base)		 5259
gDNA position
(for ins/del: last normal base / first normal base)		 70134
chromosomal position
(for ins/del: last normal base / first normal base)		 130134492
original gDNA sequence snippet CTTTGTTACCACTAAAGGGGTCACAGGGAAATCCTGGCAGA
altered gDNA sequence snippet CTTTGTTACCACTAAAGGGGCCACAGGGAAATCCTGGCAGA
original cDNA sequence snippet GATTACAAGGCCCACAGGGGTCACAGGGAAATCCTGGCAGA
altered cDNA sequence snippet GATTACAAGGCCCACAGGGGCCACAGGGAAATCCTGGCAGA
wildtype AA sequence MKILLIIFVL IIWTETLADQ SPGPGPVYAD VVFLVDSSDH LGPKSFPFVK TFINKMINSL
PIEANKYRVA LAQYSDEFHS EFHLSTFKGR SPMLNHLKKN FQFIGGSLQI GKALQEAHRT
YFSAPINGRD RKQFPPILVV LASAESEDEV EEASKALQKD GVKIISVGVQ KASEENLKAM
ATSHFHFNLR TIRDLSTFSQ NMTQIIKDVT KYKEGAVDAD MQVHFPISCQ KDSLADLVFL
VDESLGTGGN LRHLQTFLEN ITSSMDVKEN CMRLGLMSYS NSAKTISFLK SSTTQSEFQQ
QIKNLSIQVG KSNTGAAIDQ MRRDGFSESY GSRRAQGVPQ IAVLVTHRPS DDEVHDAALN
LRLEDVNVFA LSIQGANNTQ LEEIVSYPPE QTISTLKSYA DLETYSTKFL KKLQNEIWSQ
ISTYAEQRNL DKTGCVDTKE ADIHFLIDGS SSIQEKQFEQ IKRFMLEVTE MFSIGPDKVR
VGVVQYSDDT EVEFYITDYS NDIDLRKAIF NIKQLTGGTY TGKALDYILQ IIKNGMKDRM
SKVPCYLIVL TDGMSTDRVV EPAKRLRAEQ ITVHAVGIGA ANKIELQEIA GKEERVSFGQ
NFDALKSIKN EVVREICAEK GCEDMKADIM FLVDSSWSIG NENFRKMKIF MKNLLTKIQI
GADKTQIGVV QFSDKTKEEF QLNRYFTQQE ISDAIDRMSL INEGTLTGKA LNFVGQYFTH
SKGARLGAKK FLILITDGVA QDDVRDPARI LRGKDVTIFS VGVYNANRSQ LEEISGDSSL
VFHVENFDHL KALERKLIFR VCALHDCKRI TLLDVVFVLD HSGSIKKQYQ DHMINLTIHL
VKKADVGRDR VQFGALKYSD QPNILFYLNT YSNRSAIIEN LRKRRDTGGN TYTAKALKHA
NALFTEEHGS RIKQNVKQML IVITDGESHD HDQLNDTALE LRNKGITIFA VGVGKANQKE
LEGMAGNKNN TIYVDNFDKL KDVFTLVQER MCTEAPEVCH LQEADVIFLC DGSDRVSNSD
FVTMTTFLSD LIDNFDIQSQ RMKIGMAQFG SNYQSIIELK NSLTKTQWKT QIQNVSKSGG
FPRIDFALKK VSNMFNLHAG GRRNAGVPQT LVVITSGDPR YDVADAVKTL KDLGICVLVL
GIGDVYKEHL LPITGNSEKI ITFQDFDKLK NVDVKKRIIR EICQSCGKTN CFMDIVVGFD
ISTHVQGQPL FQGHPQLESY LPGILEDISS IKGVSCGAGT EAQVSLAFKV NSDQGFPAKF
QIYQKAVFDS LLQVNVSGPT HLNAQFLRSL WDTFKDKSAS RGQVLLIFSD GLQSESNIML
ENQSDRLREA GLDALLVVSL NTTAHHEFSS FEFGKRFDYR THLTIGMREL GKKLSQYLGN
IAERTCCCTF CKCPGIPGPH GTRGLQAMKG SQGLKGSRGH RGEDGNPGVR GDTGPQGDKG
IAGCPGAWGQ KGLKGFSGPK GGHGDDGIDG LDGEEGCHGF PGIKGEKGDP GSQGSPGSRG
APGQYGEKGF PGDPGNPGQN NNIKGQKGSK GEQGRQGRSG QKGVQGSPSS RGSRGREGQR
GLRGVSGEPG NPGPTGTLGA EGLQGPQGSQ GNPGRKGEKG SQGQKGPQGS PGLMGAKGST
GRPGLLGKKG EPGLPGDLGP VGQTGQRGRQ GDSGIPGYGQ MGRKGVKGPR GFPGDAGQKG
DIGNPGIPGG PGPKGFRGLA LTVGLKGEEG SRGLPGPPGQ RGIKGMAGQP VYSQCDLIRF
LREHSLCSLE KCPAYPTELV FALDNSYDVT EESFNKTRDI ITSIVNDLNI RENNCPVGAR
VAMVSYNSGT SYLIRWSDYN RKKQLLQQLS QIKYQDTTEP RDVGNAMRFV TRNVFKRTYA
GANVRRVAVF FSNGQTASRS SIITATMEFS ALDISPTVFA FDERVFLEAF GFDNTGTFQV
IPVPPNGENQ TLERLRRCAL CYDKCFPNAC IREAFLPEDS YMDVVFLIDN SRNIAKDEFK
AVKALVSSVI DNFNIASDPL ISDSGDRIAL LSYSPWESSR RKMGTVKTEF DFITYDNQLL
MKNHIQTSFQ QLNGEATIGR ALLWTTENLF PETPYLRKHK VIFVVSAGEN YERKEFVKMM
ALRAKCQGYV IFVISLGSTR KDDMEELASY PLDQHLIQLG RIHKPDLNYI AKFLKPFLYS
VRRGFNQYPP PMLEDACRLI NLGGENIQND GFQFVTELQE DFLGGNGFIG QELNSGRESP
FVKTEDNGSD YLVYLPSQMF EPQKLMINYE KDQKSAEIAS LTSGHENYGR KEEPDHTYEP
GDVSLQEYYM DVAFLIDASQ RVGSDEFKEV KAFITSVLDY FHIAPTPLTS TLGDRVAVLS
YSPPGYMPNT EECPVYLEFD LVTYNSIHQM KHHLQDSQQL NGDVFIGHAL QWTIDNVFVG
TPNLRKNKVI FVISAGETNS LDKDVLRNVS LRAKCQGYSI FVFSFGPKHN DKELEELASH
PLDHHLVQLG RTHKPDWNYI IKFVKPFVHL IRRAINKYPT EDMKATCVNM TSPNPENGGT
ENTVLLLPGI YEIKTENGDL FDEFDSQAQH LLVLGNNHSS GSETATDLMQ KLYLLFSTEK
LAMKDKEKAH LEEISALVVD KQQEKEDKEM EATDI*
mutated AA sequence MKILLIIFVL IIWTETLADQ SPGPGPVYAD VVFLVDSSDH LGPKSFPFVK TFINKMINSL
PIEANKYRVA LAQYSDEFHS EFHLSTFKGR SPMLNHLKKN FQFIGGSLQI GKALQEAHRT
YFSAPINGRD RKQFPPILVV LASAESEDEV EEASKALQKD GVKIISVGVQ KASEENLKAM
ATSHFHFNLR TIRDLSTFSQ NMTQIIKDVT KYKEGAVDAD MQVHFPISCQ KDSLADLVFL
VDESLGTGGN LRHLQTFLEN ITSSMDVKEN CMRLGLMSYS NSAKTISFLK SSTTQSEFQQ
QIKNLSIQVG KSNTGAAIDQ MRRDGFSESY GSRRAQGVPQ IAVLVTHRPS DDEVHDAALN
LRLEDVNVFA LSIQGANNTQ LEEIVSYPPE QTISTLKSYA DLETYSTKFL KKLQNEIWSQ
ISTYAEQRNL DKTGCVDTKE ADIHFLIDGS SSIQEKQFEQ IKRFMLEVTE MFSIGPDKVR
VGVVQYSDDT EVEFYITDYS NDIDLRKAIF NIKQLTGGTY TGKALDYILQ IIKNGMKDRM
SKVPCYLIVL TDGMSTDRVV EPAKRLRAEQ ITVHAVGIGA ANKIELQEIA GKEERVSFGQ
NFDALKSIKN EVVREICAEK GCEDMKADIM FLVDSSWSIG NENFRKMKIF MKNLLTKIQI
GADKTQIGVV QFSDKTKEEF QLNRYFTQQE ISDAIDRMSL INEGTLTGKA LNFVGQYFTH
SKGARLGAKK FLILITDGVA QDDVRDPARI LRGKDVTIFS VGVYNANRSQ LEEISGDSSL
VFHVENFDHL KALERKLIFR VCALHDCKRI TLLDVVFVLD HSGSIKKQYQ DHMINLTIHL
VKKADVGRDR VQFGALKYSD QPNILFYLNT YSNRSAIIEN LRKRRDTGGN TYTAKALKHA
NALFTEEHGS RIKQNVKQML IVITDGESHD HDQLNDTALE LRNKGITIFA VGVGKANQKE
LEGMAGNKNN TIYVDNFDKL KDVFTLVQER MCTEAPEVCH LQEADVIFLC DGSDRVSNSD
FVTMTTFLSD LIDNFDIQSQ RMKIGMAQFG SNYQSIIELK NSLTKTQWKT QIQNVSKSGG
FPRIDFALKK VSNMFNLHAG GRRNAGVPQT LVVITSGDPR YDVADAVKTL KDLGICVLVL
GIGDVYKEHL LPITGNSEKI ITFQDFDKLK NVDVKKRIIR EICQSCGKTN CFMDIVVGFD
ISTHVQGQPL FQGHPQLESY LPGILEDISS IKGVSCGAGT EAQVSLAFKV NSDQGFPAKF
QIYQKAVFDS LLQVNVSGPT HLNAQFLRSL WDTFKDKSAS RGQVLLIFSD GLQSESNIML
ENQSDRLREA GLDALLVVSL NTTAHHEFSS FEFGKRFDYR THLTIGMREL GKKLSQYLGN
IAERTCCCTF CKCPGIPGPH GTRGLQAMKG SQGLKGSRGH RGEDGNPGVR GDTGPQGDKG
IAGCPGAWGQ KGLKGFSGPK GGHGDDGIDG LDGEEGCHGF PGIKGEKGDP GSQGSPGSRG
APGQYGEKGF PGDPGNPGQN NNIKGQKGSK GEQGRQGRSG QKGVQGSPSS RGSRGREGQR
GLRGVSGEPG NPGPTGTLGA EGLQGPQGPQ GNPGRKGEKG SQGQKGPQGS PGLMGAKGST
GRPGLLGKKG EPGLPGDLGP VGQTGQRGRQ GDSGIPGYGQ MGRKGVKGPR GFPGDAGQKG
DIGNPGIPGG PGPKGFRGLA LTVGLKGEEG SRGLPGPPGQ RGIKGMAGQP VYSQCDLIRF
LREHSLCSLE KCPAYPTELV FALDNSYDVT EESFNKTRDI ITSIVNDLNI RENNCPVGAR
VAMVSYNSGT SYLIRWSDYN RKKQLLQQLS QIKYQDTTEP RDVGNAMRFV TRNVFKRTYA
GANVRRVAVF FSNGQTASRS SIITATMEFS ALDISPTVFA FDERVFLEAF GFDNTGTFQV
IPVPPNGENQ TLERLRRCAL CYDKCFPNAC IREAFLPEDS YMDVVFLIDN SRNIAKDEFK
AVKALVSSVI DNFNIASDPL ISDSGDRIAL LSYSPWESSR RKMGTVKTEF DFITYDNQLL
MKNHIQTSFQ QLNGEATIGR ALLWTTENLF PETPYLRKHK VIFVVSAGEN YERKEFVKMM
ALRAKCQGYV IFVISLGSTR KDDMEELASY PLDQHLIQLG RIHKPDLNYI AKFLKPFLYS
VRRGFNQYPP PMLEDACRLI NLGGENIQND GFQFVTELQE DFLGGNGFIG QELNSGRESP
FVKTEDNGSD YLVYLPSQMF EPQKLMINYE KDQKSAEIAS LTSGHENYGR KEEPDHTYEP
GDVSLQEYYM DVAFLIDASQ RVGSDEFKEV KAFITSVLDY FHIAPTPLTS TLGDRVAVLS
YSPPGYMPNT EECPVYLEFD LVTYNSIHQM KHHLQDSQQL NGDVFIGHAL QWTIDNVFVG
TPNLRKNKVI FVISAGETNS LDKDVLRNVS LRAKCQGYSI FVFSFGPKHN DKELEELASH
PLDHHLVQLG RTHKPDWNYI IKFVKPFVHL IRRAINKYPT EDMKATCVNM TSPNPENGGT
ENTVLLLPGI YEIKTENGDL FDEFDSQAQH LLVLGNNHSS GSETATDLMQ KLYLLFSTEK
LAMKDKEKAH LEEISALVVD KQQEKEDKEM EATDI*
speed 1.04 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