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: ENST00000283684
Querying Taster for transcript #2: ENST00000536015
MT speed 2.6 s - this script 4.466482 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ATP8B1disease_causing_automatic1simple_aaeaffected0G308Vsingle base exchangers111033609show file
ATP8B1disease_causing_automatic1simple_aaeaffected0G308Vsingle base exchangers111033609show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM043813)
  • known disease mutation at this position (HGMD CM980760)
  • known disease mutation: rs7262 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:55362420C>AN/A show variant in all transcripts   IGV
HGNC symbol ATP8B1
Ensembl transcript ID ENST00000283684
Genbank transcript ID N/A
UniProt peptide O43520
alteration type single base exchange
alteration region CDS
DNA changes c.923G>T
cDNA.923G>T
g.107914G>T
AA changes G308V Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS
308
frameshift no
known variant Reference ID: rs111033609
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs7262 (pathogenic for Cholestasis, progressive familial intrahepatic 1|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6350.01
5.9211
(flanking)5.9211
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 increased107914wt: 0.3647 / mu: 0.4302 (marginal change - not scored)wt: GAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGGTA
mu: GAACACCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTA
 acgg|CTTA
Donor marginally increased107907wt: 0.9954 / mu: 0.9965 (marginal change - not scored)wt: ATTTCTGCCACGGCT
mu: ATTTCTGCCACGTCT
 TTCT|gcca
Acc gained1079180.63mu: ACCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTACGTT ctta|GTCA
Acc gained1079190.45mu: CCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTACGTTC ttag|TCAT
Acc gained1079230.62mu: TTTCTGCCACGTCTTAGTCATTTTTGCAGGTACGTTCAGAG tcat|TTTT
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      308GCVIRNTDFCHGLVIFAGADTKIM
mutated  not conserved    308RNTDFCHVLVIFAGADTKI
Ptroglodytes  all identical  ENSPTRG00000010048  275RNTDFCHGLVIFAGADTKI
Mmulatta  all identical  ENSMMUG00000019976  307RNTDFCHGLVIFAGADTKI
Fcatus  all identical  ENSFCAG00000014301  245NTDFCHGLVIFAGADTKI
Mmusculus  all identical  ENSMUSG00000039529  308RNTDVCHGLVIFAGADTKI
Ggallus  all identical  ENSGALG00000003253  308RNTDFCHGVVIFAGADTKI
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000060980  302CHGLVIFAGNDTKI
Dmelanogaster  all identical  FBgn0037989  425VLRNTQWCYGVVVFAGVDTKL
Celegans  all identical  H06H21.10  252WCYGVVVFAGKDTKL
Xtropicalis  all identical  ENSXETG00000020878  125EWIDGSVWVCIISVHI
protein features
start (aa)end (aa)featuredetails 
157340TOPO_DOMCytoplasmic (Potential).lost
341362TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
363389TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
390411TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
412949TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
454454ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
893893METALMagnesium (By similarity).might get lost (downstream of altered splice site)
897897METALMagnesium (By similarity).might get lost (downstream of altered splice site)
950970TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
971982TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
9831002TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10031032TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10161016CONFLICTP -> L (in Ref. 4; AAH03534).might get lost (downstream of altered splice site)
10331054TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10551068TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10691091TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10921097TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10981118TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11191138TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11391163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11641251TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12171217MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3756 / 3756
position (AA) of stopcodon in wt / mu AA sequence 1252 / 1252
position of stopcodon in wt / mu cDNA 3756 / 3756
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 18
strand -1
last intron/exon boundary 3532
theoretical NMD boundary in CDS 3481
length of CDS 3756
coding sequence (CDS) position 923
cDNA position
(for ins/del: last normal base / first normal base)
923
gDNA position
(for ins/del: last normal base / first normal base)
107914
chromosomal position
(for ins/del: last normal base / first normal base)
55362420
original gDNA sequence snippet GAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGGTA
altered gDNA sequence snippet GAACACCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTA
original cDNA sequence snippet GAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGGTG
altered cDNA sequence snippet GAACACCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTG
wildtype AA sequence MSTERDSETT FDEDSQPNDE VVPYSDDETE DELDDQGSAV EPEQNRVNRE AEENREPFRK
ECTWQVKAND RKYHEQPHFM NTKFLCIKES KYANNAIKTY KYNAFTFIPM NLFEQFKRAA
NLYFLALLIL QAVPQISTLA WYTTLVPLLV VLGVTAIKDL VDDVARHKMD KEINNRTCEV
IKDGRFKVAK WKEIQVGDVI RLKKNDFVPA DILLLSSSEP NSLCYVETAE LDGETNLKFK
MSLEITDQYL QREDTLATFD GFIECEEPNN RLDKFTGTLF WRNTSFPLDA DKILLRGCVI
RNTDFCHGLV IFAGADTKIM KNSGKTRFKR TKIDYLMNYM VYTIFVVLIL LSAGLAIGHA
YWEAQVGNSS WYLYDGEDDT PSYRGFLIFW GYIIVLNTMV PISLYVSVEV IRLGQSHFIN
WDLQMYYAEK DTPAKARTTT LNEQLGQIHY IFSDKTGTLT QNIMTFKKCC INGQIYGDHR
DASQHNHNKI EQVDFSWNTY ADGKLAFYDH YLIEQIQSGK EPEVRQFFFL LAVCHTVMVD
RTDGQLNYQA ASPDEGALVN AARNFGFAFL ARTQNTITIS ELGTERTYNV LAILDFNSDR
KRMSIIVRTP EGNIKLYCKG ADTVIYERLH RMNPTKQETQ DALDIFANET LRTLCLCYKE
IEEKEFTEWN KKFMAASVAS TNRDEALDKV YEEIEKDLIL LGATAIEDKL QDGVPETISK
LAKADIKIWV LTGDKKETAE NIGFACELLT EDTTICYGED INSLLHARME NQRNRGGVYA
KFAPPVQESF FPPGGNRALI ITGSWLNEIL LEKKTKRNKI LKLKFPRTEE ERRMRTQSKR
RLEAKKEQRQ KNFVDLACEC SAVICCRVTP KQKAMVVDLV KRYKKAITLA IGDGANDVNM
IKTAHIGVGI SGQEGMQAVM SSDYSFAQFR YLQRLLLVHG RWSYIRMCKF LRYFFYKNFA
FTLVHFWYSF FNGYSAQTAY EDWFITLYNV LYTSLPVLLM GLLDQDVSDK LSLRFPGLYI
VGQRDLLFNY KRFFVSLLHG VLTSMILFFI PLGAYLQTVG QDGEAPSDYQ SFAVTIASAL
VITVNFQIGL DTSYWTFVNA FSIFGSIALY FGIMFDFHSA GIHVLFPSAF QFTGTASNAL
RQPYIWLTII LAVAVCLLPV VAIRFLSMTI WPSESDKIQK HRKRLKAEEQ WQRRQQVFRR
GVSTRRSAYA FSHQRGYADL ISSGRSIRKK RSPLDAIVAD GTAEYRRTGD S*
mutated AA sequence MSTERDSETT FDEDSQPNDE VVPYSDDETE DELDDQGSAV EPEQNRVNRE AEENREPFRK
ECTWQVKAND RKYHEQPHFM NTKFLCIKES KYANNAIKTY KYNAFTFIPM NLFEQFKRAA
NLYFLALLIL QAVPQISTLA WYTTLVPLLV VLGVTAIKDL VDDVARHKMD KEINNRTCEV
IKDGRFKVAK WKEIQVGDVI RLKKNDFVPA DILLLSSSEP NSLCYVETAE LDGETNLKFK
MSLEITDQYL QREDTLATFD GFIECEEPNN RLDKFTGTLF WRNTSFPLDA DKILLRGCVI
RNTDFCHVLV IFAGADTKIM KNSGKTRFKR TKIDYLMNYM VYTIFVVLIL LSAGLAIGHA
YWEAQVGNSS WYLYDGEDDT PSYRGFLIFW GYIIVLNTMV PISLYVSVEV IRLGQSHFIN
WDLQMYYAEK DTPAKARTTT LNEQLGQIHY IFSDKTGTLT QNIMTFKKCC INGQIYGDHR
DASQHNHNKI EQVDFSWNTY ADGKLAFYDH YLIEQIQSGK EPEVRQFFFL LAVCHTVMVD
RTDGQLNYQA ASPDEGALVN AARNFGFAFL ARTQNTITIS ELGTERTYNV LAILDFNSDR
KRMSIIVRTP EGNIKLYCKG ADTVIYERLH RMNPTKQETQ DALDIFANET LRTLCLCYKE
IEEKEFTEWN KKFMAASVAS TNRDEALDKV YEEIEKDLIL LGATAIEDKL QDGVPETISK
LAKADIKIWV LTGDKKETAE NIGFACELLT EDTTICYGED INSLLHARME NQRNRGGVYA
KFAPPVQESF FPPGGNRALI ITGSWLNEIL LEKKTKRNKI LKLKFPRTEE ERRMRTQSKR
RLEAKKEQRQ KNFVDLACEC SAVICCRVTP KQKAMVVDLV KRYKKAITLA IGDGANDVNM
IKTAHIGVGI SGQEGMQAVM SSDYSFAQFR YLQRLLLVHG RWSYIRMCKF LRYFFYKNFA
FTLVHFWYSF FNGYSAQTAY EDWFITLYNV LYTSLPVLLM GLLDQDVSDK LSLRFPGLYI
VGQRDLLFNY KRFFVSLLHG VLTSMILFFI PLGAYLQTVG QDGEAPSDYQ SFAVTIASAL
VITVNFQIGL DTSYWTFVNA FSIFGSIALY FGIMFDFHSA GIHVLFPSAF QFTGTASNAL
RQPYIWLTII LAVAVCLLPV VAIRFLSMTI WPSESDKIQK HRKRLKAEEQ WQRRQQVFRR
GVSTRRSAYA FSHQRGYADL ISSGRSIRKK RSPLDAIVAD GTAEYRRTGD S*
speed 1.12 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: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM043813)
  • known disease mutation at this position (HGMD CM980760)
  • known disease mutation: rs7262 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:55362420C>AN/A show variant in all transcripts   IGV
HGNC symbol ATP8B1
Ensembl transcript ID ENST00000536015
Genbank transcript ID NM_005603
UniProt peptide O43520
alteration type single base exchange
alteration region CDS
DNA changes c.923G>T
cDNA.1043G>T
g.107914G>T
AA changes G308V Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS
308
frameshift no
known variant Reference ID: rs111033609
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs7262 (pathogenic for Cholestasis, progressive familial intrahepatic 1|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)
known disease mutation at this position, please check HGMD for details (HGMD ID CM043813)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980760)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6350.01
5.9211
(flanking)5.9211
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 increased107914wt: 0.3647 / mu: 0.4302 (marginal change - not scored)wt: GAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGGTA
mu: GAACACCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTA
 acgg|CTTA
Donor marginally increased107907wt: 0.9954 / mu: 0.9965 (marginal change - not scored)wt: ATTTCTGCCACGGCT
mu: ATTTCTGCCACGTCT
 TTCT|gcca
Acc gained1079180.63mu: ACCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTACGTT ctta|GTCA
Acc gained1079190.45mu: CCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTACGTTC ttag|TCAT
Acc gained1079230.62mu: TTTCTGCCACGTCTTAGTCATTTTTGCAGGTACGTTCAGAG tcat|TTTT
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      308GCVIRNTDFCHGLVIFAGADTKIM
mutated  not conserved    308RNTDFCHVLVIFAGADTKI
Ptroglodytes  all identical  ENSPTRG00000010048  275RNTDFCHGLVIFAGADTKI
Mmulatta  all identical  ENSMMUG00000019976  307RNTDFCHGLVIFAGADTKI
Fcatus  all identical  ENSFCAG00000014301  245NTDFCHGLVIFAGADTKI
Mmusculus  all identical  ENSMUSG00000039529  308RNTDVCHGLVIFAGADTKI
Ggallus  all identical  ENSGALG00000003253  308RNTDFCHGVVIFAGADTKI
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000060980  302CHGLVIFAGNDTKI
Dmelanogaster  all identical  FBgn0037989  425VLRNTQWCYGVVVFAGVDTKL
Celegans  all identical  H06H21.10  252WCYGVVVFAGKDTKL
Xtropicalis  all identical  ENSXETG00000020878  125EWIDGSVWVCIISVHI
protein features
start (aa)end (aa)featuredetails 
157340TOPO_DOMCytoplasmic (Potential).lost
341362TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
363389TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
390411TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
412949TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
454454ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
893893METALMagnesium (By similarity).might get lost (downstream of altered splice site)
897897METALMagnesium (By similarity).might get lost (downstream of altered splice site)
950970TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
971982TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
9831002TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10031032TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10161016CONFLICTP -> L (in Ref. 4; AAH03534).might get lost (downstream of altered splice site)
10331054TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10551068TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10691091TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10921097TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10981118TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11191138TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11391163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11641251TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12171217MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3756 / 3756
position (AA) of stopcodon in wt / mu AA sequence 1252 / 1252
position of stopcodon in wt / mu cDNA 3876 / 3876
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 121 / 121
chromosome 18
strand -1
last intron/exon boundary 3652
theoretical NMD boundary in CDS 3481
length of CDS 3756
coding sequence (CDS) position 923
cDNA position
(for ins/del: last normal base / first normal base)
1043
gDNA position
(for ins/del: last normal base / first normal base)
107914
chromosomal position
(for ins/del: last normal base / first normal base)
55362420
original gDNA sequence snippet GAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGGTA
altered gDNA sequence snippet GAACACCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTA
original cDNA sequence snippet GAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGGTG
altered cDNA sequence snippet GAACACCGATTTCTGCCACGTCTTAGTCATTTTTGCAGGTG
wildtype AA sequence MSTERDSETT FDEDSQPNDE VVPYSDDETE DELDDQGSAV EPEQNRVNRE AEENREPFRK
ECTWQVKAND RKYHEQPHFM NTKFLCIKES KYANNAIKTY KYNAFTFIPM NLFEQFKRAA
NLYFLALLIL QAVPQISTLA WYTTLVPLLV VLGVTAIKDL VDDVARHKMD KEINNRTCEV
IKDGRFKVAK WKEIQVGDVI RLKKNDFVPA DILLLSSSEP NSLCYVETAE LDGETNLKFK
MSLEITDQYL QREDTLATFD GFIECEEPNN RLDKFTGTLF WRNTSFPLDA DKILLRGCVI
RNTDFCHGLV IFAGADTKIM KNSGKTRFKR TKIDYLMNYM VYTIFVVLIL LSAGLAIGHA
YWEAQVGNSS WYLYDGEDDT PSYRGFLIFW GYIIVLNTMV PISLYVSVEV IRLGQSHFIN
WDLQMYYAEK DTPAKARTTT LNEQLGQIHY IFSDKTGTLT QNIMTFKKCC INGQIYGDHR
DASQHNHNKI EQVDFSWNTY ADGKLAFYDH YLIEQIQSGK EPEVRQFFFL LAVCHTVMVD
RTDGQLNYQA ASPDEGALVN AARNFGFAFL ARTQNTITIS ELGTERTYNV LAILDFNSDR
KRMSIIVRTP EGNIKLYCKG ADTVIYERLH RMNPTKQETQ DALDIFANET LRTLCLCYKE
IEEKEFTEWN KKFMAASVAS TNRDEALDKV YEEIEKDLIL LGATAIEDKL QDGVPETISK
LAKADIKIWV LTGDKKETAE NIGFACELLT EDTTICYGED INSLLHARME NQRNRGGVYA
KFAPPVQESF FPPGGNRALI ITGSWLNEIL LEKKTKRNKI LKLKFPRTEE ERRMRTQSKR
RLEAKKEQRQ KNFVDLACEC SAVICCRVTP KQKAMVVDLV KRYKKAITLA IGDGANDVNM
IKTAHIGVGI SGQEGMQAVM SSDYSFAQFR YLQRLLLVHG RWSYIRMCKF LRYFFYKNFA
FTLVHFWYSF FNGYSAQTAY EDWFITLYNV LYTSLPVLLM GLLDQDVSDK LSLRFPGLYI
VGQRDLLFNY KRFFVSLLHG VLTSMILFFI PLGAYLQTVG QDGEAPSDYQ SFAVTIASAL
VITVNFQIGL DTSYWTFVNA FSIFGSIALY FGIMFDFHSA GIHVLFPSAF QFTGTASNAL
RQPYIWLTII LAVAVCLLPV VAIRFLSMTI WPSESDKIQK HRKRLKAEEQ WQRRQQVFRR
GVSTRRSAYA FSHQRGYADL ISSGRSIRKK RSPLDAIVAD GTAEYRRTGD S*
mutated AA sequence MSTERDSETT FDEDSQPNDE VVPYSDDETE DELDDQGSAV EPEQNRVNRE AEENREPFRK
ECTWQVKAND RKYHEQPHFM NTKFLCIKES KYANNAIKTY KYNAFTFIPM NLFEQFKRAA
NLYFLALLIL QAVPQISTLA WYTTLVPLLV VLGVTAIKDL VDDVARHKMD KEINNRTCEV
IKDGRFKVAK WKEIQVGDVI RLKKNDFVPA DILLLSSSEP NSLCYVETAE LDGETNLKFK
MSLEITDQYL QREDTLATFD GFIECEEPNN RLDKFTGTLF WRNTSFPLDA DKILLRGCVI
RNTDFCHVLV IFAGADTKIM KNSGKTRFKR TKIDYLMNYM VYTIFVVLIL LSAGLAIGHA
YWEAQVGNSS WYLYDGEDDT PSYRGFLIFW GYIIVLNTMV PISLYVSVEV IRLGQSHFIN
WDLQMYYAEK DTPAKARTTT LNEQLGQIHY IFSDKTGTLT QNIMTFKKCC INGQIYGDHR
DASQHNHNKI EQVDFSWNTY ADGKLAFYDH YLIEQIQSGK EPEVRQFFFL LAVCHTVMVD
RTDGQLNYQA ASPDEGALVN AARNFGFAFL ARTQNTITIS ELGTERTYNV LAILDFNSDR
KRMSIIVRTP EGNIKLYCKG ADTVIYERLH RMNPTKQETQ DALDIFANET LRTLCLCYKE
IEEKEFTEWN KKFMAASVAS TNRDEALDKV YEEIEKDLIL LGATAIEDKL QDGVPETISK
LAKADIKIWV LTGDKKETAE NIGFACELLT EDTTICYGED INSLLHARME NQRNRGGVYA
KFAPPVQESF FPPGGNRALI ITGSWLNEIL LEKKTKRNKI LKLKFPRTEE ERRMRTQSKR
RLEAKKEQRQ KNFVDLACEC SAVICCRVTP KQKAMVVDLV KRYKKAITLA IGDGANDVNM
IKTAHIGVGI SGQEGMQAVM SSDYSFAQFR YLQRLLLVHG RWSYIRMCKF LRYFFYKNFA
FTLVHFWYSF FNGYSAQTAY EDWFITLYNV LYTSLPVLLM GLLDQDVSDK LSLRFPGLYI
VGQRDLLFNY KRFFVSLLHG VLTSMILFFI PLGAYLQTVG QDGEAPSDYQ SFAVTIASAL
VITVNFQIGL DTSYWTFVNA FSIFGSIALY FGIMFDFHSA GIHVLFPSAF QFTGTASNAL
RQPYIWLTII LAVAVCLLPV VAIRFLSMTI WPSESDKIQK HRKRLKAEEQ WQRRQQVFRR
GVSTRRSAYA FSHQRGYADL ISSGRSIRKK RSPLDAIVAD GTAEYRRTGD S*
speed 1.48 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