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: ENST00000224140
Querying Taster for transcript #2: ENST00000372169
Querying Taster for transcript #3: ENST00000393220
MT speed 0 s - this script 3.266563 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SETXpolymorphism_automatic0.775506361935158simple_aaeaffectedG1252Rsingle base exchangers1183768show file
SETXpolymorphism_automatic0.775506361935158simple_aaeaffectedG1252Rsingle base exchangers1183768show file
SETXpolymorphism_automatic0.775506361935158simple_aaeaffectedG1252Rsingle base exchangers1183768show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.224493638064842 (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) chr9:135203231C>TN/A show variant in all transcripts   IGV
HGNC symbol SETX
Ensembl transcript ID ENST00000224140
Genbank transcript ID NM_015046
UniProt peptide Q7Z333
alteration type single base exchange
alteration region CDS
DNA changes c.3754G>A
cDNA.3937G>A
g.27142G>A
AA changes G1252R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1252
frameshift no
known variant Reference ID: rs1183768
databasehomozygous (T/T)heterozygousallele carriers
1000G9029811883
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5520.967
0.9940.907
(flanking)0.790.713
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 increased27146wt: 0.9874 / mu: 0.9900 (marginal change - not scored)wt: AGGACAGAATAGAAG
mu: AAGACAGAATAGAAG		 GACA|gaat
Donor increased27137wt: 0.60 / mu: 0.99wt: TGCCAAAAAAGGACA
mu: TGCCAAAAAAAGACA		 CCAA|aaaa
Donor increased27142wt: 0.52 / mu: 0.88wt: AAAAAGGACAGAATA
mu: AAAAAAGACAGAATA		 AAAG|gaca
Donor gained271430.33mu: AAAAAGACAGAATAG AAAG|acag
distance from splice site 1521
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1252TPKKTHSDAKKGQNRSSNYLSCRT
mutated  not conserved    1252TPKKTHSDAKKRQNRSSNYL
Ptroglodytes  all identical  ENSPTRG00000021495  1251TPKKTHSDAKKGQNRSSNYL
Mmulatta  all identical  ENSMMUG00000018468  1254TPKKTHSDAKKGQNRS
Fcatus  all identical  ENSFCAG00000007102  1250T-KKTHSDTKKGQN
Mmusculus  all identical  ENSMUSG00000043535  1240RRGQSKSSCYISCR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000022996  1062SSSSSSSSTPSSSSITSPYFSAS
Dmelanogaster  not conserved  FBgn0035842  664---RLLNRSK---SCY
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
12761276CONFLICTQ -> E (in Ref. 5; BAA31600).might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15931593CONFLICTR -> G (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
16211621MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16261626CONFLICTN -> K (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
16341634CONFLICTI -> V (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
16471647MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
16481650CONFLICTPVG -> TRP (in Ref. 4; AAH32622).might get lost (downstream of altered splice site)
17251725CONFLICTL -> P (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
18261826CONFLICTE -> K (in Ref. 2; CAD98045 and 4; AAH32600/AAH32622).might get lost (downstream of altered splice site)
18671867CONFLICTF -> L (in Ref. 1; AAR13367 and 4; AAH32622).might get lost (downstream of altered splice site)
19631970NP_BINDATP (Potential).might get lost (downstream of altered splice site)
20702087MOTIFBipartite nuclear localization signal (Potential).might get lost (downstream of altered splice site)
20782078CONFLICTQ -> L (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
21052136COILEDPotential.might get lost (downstream of altered splice site)
23242324CONFLICTM -> E (in Ref. 6; BAB14299).might get lost (downstream of altered splice site)
24232423CONFLICTG -> E (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
24582458CONFLICTD -> G (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
25392539CONFLICTP -> S (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
25652565CONFLICTH -> R (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
25772577CONFLICTF -> L (in Ref. 6; BAB14299).might get lost (downstream of altered splice site)
26612677REGIONNecessary for nuclear localization.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8034 / 8034
position (AA) of stopcodon in wt / mu AA sequence 2678 / 2678
position of stopcodon in wt / mu cDNA 8217 / 8217
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 184 / 184
chromosome 9
strand -1
last intron/exon boundary 7471
theoretical NMD boundary in CDS 7237
length of CDS 8034
coding sequence (CDS) position 3754
cDNA position
(for ins/del: last normal base / first normal base)		 3937
gDNA position
(for ins/del: last normal base / first normal base)		 27142
chromosomal position
(for ins/del: last normal base / first normal base)		 135203231
original gDNA sequence snippet CTCATTCAGATGCCAAAAAAGGACAGAATAGAAGTTCAAAT
altered gDNA sequence snippet CTCATTCAGATGCCAAAAAAAGACAGAATAGAAGTTCAAAT
original cDNA sequence snippet CTCATTCAGATGCCAAAAAAGGACAGAATAGAAGTTCAAAT
altered cDNA sequence snippet CTCATTCAGATGCCAAAAAAAGACAGAATAGAAGTTCAAAT
wildtype AA sequence MSTCCWCTPG GASTIDFLKR YASNTPSGEF QTADEDLCYC LECVAEYHKA RDELPFLHEV
LWELETLRLI NHFEKSMKAE IGDDDELYIV DNNGEMPLFD ITGQDFENKL RVPLLEILKY
PYLLLHERVN ELCVEALCRM EQANCSFQVF DKHPGIYLFL VHPNEMVRRW AILTARNLGK
VDRDDYYDLQ EVLLCLFKVI ELGLLESPDI YTSSVLEKGK LILLPSHMYD TTNYKSYWLG
ICMLLTILEE QAMDSLLLGS DKQNDFMQSI LHTMEREADD DSVDPFWPAL HCFMVILDRL
GSKVWGQLMD PIVAFQTIIN NASYNREIRH IRNSSVRTKL EPESYLDDMV TCSQIVYNYN
PEKTKKDSGW RTAICPDYCP NMYEEMETLA SVLQSDIGQD MRVHNSTFLW FIPFVQSLMD
LKDLGVAYIA QVVNHLYSEV KEVLNQTDAV CDKVTEFFLL ILVSVIELHR NKKCLHLLWV
SSQQWVEAVV KCAKLPTTAF TRSSEKSSGN CSKGTAMISS LSLHSMPSNS VQLAYVQLIR
SLLKEGYQLG QQSLCKRFWD KLNLFLRGNL SLGWQLTSQE THELQSCLKQ IIRNIKFKAP
PCNTFVDLTS ACKISPASYN KEESEQMGKT SRKDMHCLEA SSPTFSKEPM KVQDSVLIKA
DNTIEGDNNE QNYIKDVKLE DHLLAGSCLK QSSKNIFTER AEDQIKISTR KQKSVKEISS
YTPKDCTSRN GPERGCDRGI IVSTRLLTDS STDALEKVST SNEDFSLKDD ALAKTSKRKT
KVQKDEICAK LSHVIKKQHR KSTLVDNTIN LDENLTVSNI ESFYSRKDTG VQKGDGFIHN
LSLDPSGVLD DKNGEQKSQN NVLPKEKQLK NEELVIFSFH ENNCKIQEFH VDGKELIPFT
EMTNASEKKS SPFKDLMTVP ESRDEEMSNS TSVIYSNLTR EQAPDISPKS DTLTDSQIDR
DLHKLSLLAQ ASVITFPSDS PQNSSQLQRK VKEDKRCFTA NQNNVGDTSR GQVIIISDSD
DDDDERILSL EKLTKQDKIC LEREHPEQHV STVNSKEEKN PVKEEKTETL FQFEESDSQC
FEFESSSEVF SVWQDHPDDN NSVQDGEKKC LAPIANTTNG QGCTDYVSEV VKKGAEGIEE
HTRPRSISVE EFCEIEVKKP KRKRSEKPMA EDPVRPSSSV RNEGQSDTNK RDLVGNDFKS
IDRRTSTPNS RIQRATTVSQ KKSSKLCTCT EPIRKVPVSK TPKKTHSDAK KGQNRSSNYL
SCRTTPAIVP PKKFRQCPEP TSTAEKLGLK KGPRKAYELS QRSLDYVAQL RDHGKTVGVV
DTRKKTKLIS PQNLSVRNNK KLLTSQELQM QRQIRPKSQK NRRRLSDCES TDVKRAGSHT
AQNSDIFVPE SDRSDYNCTG GTEVLANSNR KQLIKCMPSE PETIKAKHGS PATDDACPLN
QCDSVVLNGT VPTNEVIVST SEDPLGGGDP TARHIEMAAL KEGEPDSSSD AEEDNLFLTQ
NDPEDMDLCS QMENDNYKLI ELIHGKDTVE VEEDSVSRPQ LESLSGTKCK YKDCLETTKN
QGEYCPKHSE VKAADEDVFR KPGLPPPASK PLRPTTKIFS SKSTSRIAGL SKSLETSSAL
SPSLKNKSKG IQSILKVPQP VPLIAQKPVG EMKNSCNVLH PQSPNNSNRQ GCKVPFGESK
YFPSSSPVNI LLSSQSVSDT FVKEVLKWKY EMFLNFGQCG PPASLCQSIS RPVPVRFHNY
GDYFNVFFPL MVLNTFETVA QEWLNSPNRE NFYQLQVRKF PADYIKYWEF AVYLEECELA
KQLYPKENDL VFLAPERINE EKKDTERNDI QDLHEYHSGY VHKFRRTSVM RNGKTECYLS
IQTQENFPAN LNELVNCIVI SSLVTTQRKL KAMSLLGSRN QLARAVLNPN PMDFCTKDLL
TTTSERIIAY LRDFNEDQKK AIETAYAMVK HSPSVAKICL IHGPPGTGKS KTIVGLLYRL
LTENQRKGHS DENSNAKIKQ NRVLVCAPSN AAVDELMKKI ILEFKEKCKD KKNPLGNCGD
INLVRLGPEK SINSEVLKFS LDSQVNHRMK KELPSHVQAM HKRKEFLDYQ LDELSRQRAL
CRGGREIQRQ ELDENISKVS KERQELASKI KEVQGRPQKT QSIIILESHI ICCTLSTSGG
LLLESAFRGQ GGVPFSCVIV DEAGQSCEIE TLTPLIHRCN KLILVGDPKQ LPPTVISMKA
QEYGYDQSMM ARFCRLLEEN VEHNMISRLP ILQLTVQYRM HPDICLFPSN YVYNRNLKTN
RQTEAIRCSS DWPFQPYLVF DVGDGSERRD NDSYINVQEI KLVMEIIKLI KDKRKDVSFR
NIGIITHYKA QKTMIQKDLD KEFDRKGPAE VDTVDAFQGR QKDCVIVTCV RANSIQGSIG
FLASLQRLNV TITRAKYSLF ILGHLRTLME NQHWNQLIQD AQKRGAIIKT CDKNYRHDAV
KILKLKPVLQ RSLTHPPTIA PEGSRPQGGL PSSKLDSGFA KTSVAASLYH TPSDSKEITL
TVTSKDPERP PVHDQLQDPR LLKRMGIEVK GGIFLWDPQP SSPQHPGATP PTGEPGFPVV
HQDLSHIQQP AAVVAALSSH KPPVRGEPPA ASPEASTCQS KCDDPEEELC HRREARAFSE
GEQEKCGSET HHTRRNSRWD KRTLEQEDSS SKKRKLL*
mutated AA sequence MSTCCWCTPG GASTIDFLKR YASNTPSGEF QTADEDLCYC LECVAEYHKA RDELPFLHEV
LWELETLRLI NHFEKSMKAE IGDDDELYIV DNNGEMPLFD ITGQDFENKL RVPLLEILKY
PYLLLHERVN ELCVEALCRM EQANCSFQVF DKHPGIYLFL VHPNEMVRRW AILTARNLGK
VDRDDYYDLQ EVLLCLFKVI ELGLLESPDI YTSSVLEKGK LILLPSHMYD TTNYKSYWLG
ICMLLTILEE QAMDSLLLGS DKQNDFMQSI LHTMEREADD DSVDPFWPAL HCFMVILDRL
GSKVWGQLMD PIVAFQTIIN NASYNREIRH IRNSSVRTKL EPESYLDDMV TCSQIVYNYN
PEKTKKDSGW RTAICPDYCP NMYEEMETLA SVLQSDIGQD MRVHNSTFLW FIPFVQSLMD
LKDLGVAYIA QVVNHLYSEV KEVLNQTDAV CDKVTEFFLL ILVSVIELHR NKKCLHLLWV
SSQQWVEAVV KCAKLPTTAF TRSSEKSSGN CSKGTAMISS LSLHSMPSNS VQLAYVQLIR
SLLKEGYQLG QQSLCKRFWD KLNLFLRGNL SLGWQLTSQE THELQSCLKQ IIRNIKFKAP
PCNTFVDLTS ACKISPASYN KEESEQMGKT SRKDMHCLEA SSPTFSKEPM KVQDSVLIKA
DNTIEGDNNE QNYIKDVKLE DHLLAGSCLK QSSKNIFTER AEDQIKISTR KQKSVKEISS
YTPKDCTSRN GPERGCDRGI IVSTRLLTDS STDALEKVST SNEDFSLKDD ALAKTSKRKT
KVQKDEICAK LSHVIKKQHR KSTLVDNTIN LDENLTVSNI ESFYSRKDTG VQKGDGFIHN
LSLDPSGVLD DKNGEQKSQN NVLPKEKQLK NEELVIFSFH ENNCKIQEFH VDGKELIPFT
EMTNASEKKS SPFKDLMTVP ESRDEEMSNS TSVIYSNLTR EQAPDISPKS DTLTDSQIDR
DLHKLSLLAQ ASVITFPSDS PQNSSQLQRK VKEDKRCFTA NQNNVGDTSR GQVIIISDSD
DDDDERILSL EKLTKQDKIC LEREHPEQHV STVNSKEEKN PVKEEKTETL FQFEESDSQC
FEFESSSEVF SVWQDHPDDN NSVQDGEKKC LAPIANTTNG QGCTDYVSEV VKKGAEGIEE
HTRPRSISVE EFCEIEVKKP KRKRSEKPMA EDPVRPSSSV RNEGQSDTNK RDLVGNDFKS
IDRRTSTPNS RIQRATTVSQ KKSSKLCTCT EPIRKVPVSK TPKKTHSDAK KRQNRSSNYL
SCRTTPAIVP PKKFRQCPEP TSTAEKLGLK KGPRKAYELS QRSLDYVAQL RDHGKTVGVV
DTRKKTKLIS PQNLSVRNNK KLLTSQELQM QRQIRPKSQK NRRRLSDCES TDVKRAGSHT
AQNSDIFVPE SDRSDYNCTG GTEVLANSNR KQLIKCMPSE PETIKAKHGS PATDDACPLN
QCDSVVLNGT VPTNEVIVST SEDPLGGGDP TARHIEMAAL KEGEPDSSSD AEEDNLFLTQ
NDPEDMDLCS QMENDNYKLI ELIHGKDTVE VEEDSVSRPQ LESLSGTKCK YKDCLETTKN
QGEYCPKHSE VKAADEDVFR KPGLPPPASK PLRPTTKIFS SKSTSRIAGL SKSLETSSAL
SPSLKNKSKG IQSILKVPQP VPLIAQKPVG EMKNSCNVLH PQSPNNSNRQ GCKVPFGESK
YFPSSSPVNI LLSSQSVSDT FVKEVLKWKY EMFLNFGQCG PPASLCQSIS RPVPVRFHNY
GDYFNVFFPL MVLNTFETVA QEWLNSPNRE NFYQLQVRKF PADYIKYWEF AVYLEECELA
KQLYPKENDL VFLAPERINE EKKDTERNDI QDLHEYHSGY VHKFRRTSVM RNGKTECYLS
IQTQENFPAN LNELVNCIVI SSLVTTQRKL KAMSLLGSRN QLARAVLNPN PMDFCTKDLL
TTTSERIIAY LRDFNEDQKK AIETAYAMVK HSPSVAKICL IHGPPGTGKS KTIVGLLYRL
LTENQRKGHS DENSNAKIKQ NRVLVCAPSN AAVDELMKKI ILEFKEKCKD KKNPLGNCGD
INLVRLGPEK SINSEVLKFS LDSQVNHRMK KELPSHVQAM HKRKEFLDYQ LDELSRQRAL
CRGGREIQRQ ELDENISKVS KERQELASKI KEVQGRPQKT QSIIILESHI ICCTLSTSGG
LLLESAFRGQ GGVPFSCVIV DEAGQSCEIE TLTPLIHRCN KLILVGDPKQ LPPTVISMKA
QEYGYDQSMM ARFCRLLEEN VEHNMISRLP ILQLTVQYRM HPDICLFPSN YVYNRNLKTN
RQTEAIRCSS DWPFQPYLVF DVGDGSERRD NDSYINVQEI KLVMEIIKLI KDKRKDVSFR
NIGIITHYKA QKTMIQKDLD KEFDRKGPAE VDTVDAFQGR QKDCVIVTCV RANSIQGSIG
FLASLQRLNV TITRAKYSLF ILGHLRTLME NQHWNQLIQD AQKRGAIIKT CDKNYRHDAV
KILKLKPVLQ RSLTHPPTIA PEGSRPQGGL PSSKLDSGFA KTSVAASLYH TPSDSKEITL
TVTSKDPERP PVHDQLQDPR LLKRMGIEVK GGIFLWDPQP SSPQHPGATP PTGEPGFPVV
HQDLSHIQQP AAVVAALSSH KPPVRGEPPA ASPEASTCQS KCDDPEEELC HRREARAFSE
GEQEKCGSET HHTRRNSRWD KRTLEQEDSS SKKRKLL*
speed 0.44 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: 0.224493638064842 (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) chr9:135203231C>TN/A show variant in all transcripts   IGV
HGNC symbol SETX
Ensembl transcript ID ENST00000372169
Genbank transcript ID N/A
UniProt peptide Q7Z333
alteration type single base exchange
alteration region CDS
DNA changes c.3754G>A
cDNA.3937G>A
g.27142G>A
AA changes G1252R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1252
frameshift no
known variant Reference ID: rs1183768
databasehomozygous (T/T)heterozygousallele carriers
1000G9029811883
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5520.967
0.9940.907
(flanking)0.790.713
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 increased27146wt: 0.9874 / mu: 0.9900 (marginal change - not scored)wt: AGGACAGAATAGAAG
mu: AAGACAGAATAGAAG		 GACA|gaat
Donor increased27137wt: 0.60 / mu: 0.99wt: TGCCAAAAAAGGACA
mu: TGCCAAAAAAAGACA		 CCAA|aaaa
Donor increased27142wt: 0.52 / mu: 0.88wt: AAAAAGGACAGAATA
mu: AAAAAAGACAGAATA		 AAAG|gaca
Donor gained271430.33mu: AAAAAGACAGAATAG AAAG|acag
distance from splice site 1521
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1252TPKKTHSDAKKGQNRSSNYLSCRT
mutated  not conserved    1252TPKKTHSDAKKRQNRSSNYL
Ptroglodytes  all identical  ENSPTRG00000021495  1251TPKKTHSDAKKGQNRSSNYL
Mmulatta  all identical  ENSMMUG00000018468  1254TPKKTHSDAKKGQNRS
Fcatus  all identical  ENSFCAG00000007102  1250T-KKTHSDTKKGQN
Mmusculus  all identical  ENSMUSG00000043535  1240RGQSKSSCYISCR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000022996  1062SSSSSSSSTPSSSSITSPYFSAS
Dmelanogaster  not conserved  FBgn0035842  664---RLLNRSK---SCY
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
12761276CONFLICTQ -> E (in Ref. 5; BAA31600).might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15931593CONFLICTR -> G (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
16211621MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16261626CONFLICTN -> K (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
16341634CONFLICTI -> V (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
16471647MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
16481650CONFLICTPVG -> TRP (in Ref. 4; AAH32622).might get lost (downstream of altered splice site)
17251725CONFLICTL -> P (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
18261826CONFLICTE -> K (in Ref. 2; CAD98045 and 4; AAH32600/AAH32622).might get lost (downstream of altered splice site)
18671867CONFLICTF -> L (in Ref. 1; AAR13367 and 4; AAH32622).might get lost (downstream of altered splice site)
19631970NP_BINDATP (Potential).might get lost (downstream of altered splice site)
20702087MOTIFBipartite nuclear localization signal (Potential).might get lost (downstream of altered splice site)
20782078CONFLICTQ -> L (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
21052136COILEDPotential.might get lost (downstream of altered splice site)
23242324CONFLICTM -> E (in Ref. 6; BAB14299).might get lost (downstream of altered splice site)
24232423CONFLICTG -> E (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
24582458CONFLICTD -> G (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
25392539CONFLICTP -> S (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
25652565CONFLICTH -> R (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
25772577CONFLICTF -> L (in Ref. 6; BAB14299).might get lost (downstream of altered splice site)
26612677REGIONNecessary for nuclear localization.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8121 / 8121
position (AA) of stopcodon in wt / mu AA sequence 2707 / 2707
position of stopcodon in wt / mu cDNA 8304 / 8304
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 184 / 184
chromosome 9
strand -1
last intron/exon boundary 7558
theoretical NMD boundary in CDS 7324
length of CDS 8121
coding sequence (CDS) position 3754
cDNA position
(for ins/del: last normal base / first normal base)		 3937
gDNA position
(for ins/del: last normal base / first normal base)		 27142
chromosomal position
(for ins/del: last normal base / first normal base)		 135203231
original gDNA sequence snippet CTCATTCAGATGCCAAAAAAGGACAGAATAGAAGTTCAAAT
altered gDNA sequence snippet CTCATTCAGATGCCAAAAAAAGACAGAATAGAAGTTCAAAT
original cDNA sequence snippet CTCATTCAGATGCCAAAAAAGGACAGAATAGAAGTTCAAAT
altered cDNA sequence snippet CTCATTCAGATGCCAAAAAAAGACAGAATAGAAGTTCAAAT
wildtype AA sequence MSTCCWCTPG GASTIDFLKR YASNTPSGEF QTADEDLCYC LECVAEYHKA RDELPFLHEV
LWELETLRLI NHFEKSMKAE IGDDDELYIV DNNGEMPLFD ITGQDFENKL RVPLLEILKY
PYLLLHERVN ELCVEALCRM EQANCSFQVF DKHPGIYLFL VHPNEMVRRW AILTARNLGK
VDRDDYYDLQ EVLLCLFKVI ELGLLESPDI YTSSVLEKGK LILLPSHMYD TTNYKSYWLG
ICMLLTILEE QAMDSLLLGS DKQNDFMQSI LHTMEREADD DSVDPFWPAL HCFMVILDRL
GSKVWGQLMD PIVAFQTIIN NASYNREIRH IRNSSVRTKL EPESYLDDMV TCSQIVYNYN
PEKTKKDSGW RTAICPDYCP NMYEEMETLA SVLQSDIGQD MRVHNSTFLW FIPFVQSLMD
LKDLGVAYIA QVVNHLYSEV KEVLNQTDAV CDKVTEFFLL ILVSVIELHR NKKCLHLLWV
SSQQWVEAVV KCAKLPTTAF TRSSEKSSGN CSKGTAMISS LSLHSMPSNS VQLAYVQLIR
SLLKEGYQLG QQSLCKRFWD KLNLFLRGNL SLGWQLTSQE THELQSCLKQ IIRNIKFKAP
PCNTFVDLTS ACKISPASYN KEESEQMGKT SRKDMHCLEA SSPTFSKEPM KVQDSVLIKA
DNTIEGDNNE QNYIKDVKLE DHLLAGSCLK QSSKNIFTER AEDQIKISTR KQKSVKEISS
YTPKDCTSRN GPERGCDRGI IVSTRLLTDS STDALEKVST SNEDFSLKDD ALAKTSKRKT
KVQKDEICAK LSHVIKKQHR KSTLVDNTIN LDENLTVSNI ESFYSRKDTG VQKGDGFIHN
LSLDPSGVLD DKNGEQKSQN NVLPKEKQLK NEELVIFSFH ENNCKIQEFH VDGKELIPFT
EMTNASEKKS SPFKDLMTVP ESRDEEMSNS TSVIYSNLTR EQAPDISPKS DTLTDSQIDR
DLHKLSLLAQ ASVITFPSDS PQNSSQLQRK VKEDKRCFTA NQNNVGDTSR GQVIIISDSD
DDDDERILSL EKLTKQDKIC LEREHPEQHV STVNSKEEKN PVKEEKTETL FQFEESDSQC
FEFESSSEVF SVWQDHPDDN NSVQDGEKKC LAPIANTTNG QGCTDYVSEV VKKGAEGIEE
HTRPRSISVE EFCEIEVKKP KRKRSEKPMA EDPVRPSSSV RNEGQSDTNK RDLVGNDFKS
IDRRTSTPNS RIQRATTVSQ KKSSKLCTCT EPIRKVPVSK TPKKTHSDAK KGQNRSSNYL
SCRTTPAIVP PKKFRQCPEP TSTAEKLGLK KGPRKAYELS QRSLDYVAQL RDHGKTVGVV
DTRKKTKLIS PQNLSVRNNK KLLTSQELQM QRQIRPKSQK NRRRLSDCES TDVKRAGSHT
AQNSDIFVPE SDRSDYNCTG GTEVLANSNR KQLIKCMPSE PETIKAKHGS PATDDACPLN
QCDSVVLNGT VPTNEVIVST SEDPLGGGDP TARHIEMAAL KEGEPDSSSD AEEDNLFLTQ
NDPEDMDLCS QMENDNYKLI ELIHGKDTVE VEEDSVSRPQ LESLSGTKCK YKDCLETTKN
QGEYCPKHSE VKAADEDVFR KPGLPPPASK PLRPTTKIFS SKSTSRIAGL SKSLETSSAL
SPSLKNKSKG IQSILKVPQP VPLIAQKPVG EMKNSCNVLH PQSPNNSNRQ GCKVPFGESK
YFPSSSPVNI LLSSQSVSDT FVKEVLKWKY EMFLNFGQCG PPASLCQSIS RPVPVRFHNY
GDYFNVFFPL MVLNTFETVA QEWLNSPNRE NFYQLQVRKF PADYIKYWEF AVYLEECELA
KQLYPKENDL VFLAPERINE EKKDTERNDI QDLHEYHSGY VHKFRRTSVM RNGKTECYLS
IQTQENFPAN LNELVNCIVI SSLVTTQRKL KAMSLLGSRN QLARAVLNPN PMDFCTKDLL
TTTSERIIAY LRDFNEDQKK AIETAYAMVK HSPSVAKICL IHGPPGTGKS KTIVGLLYRL
LTENQRKGHS DENSNAKIKQ NRVLVCAPSN AAVDELMKKI ILEFKEKCKD KKNPLGNCGD
INLVRLGPEK SINSEVLKFS LDSQVNHRMK KELPSHVQAM HKRKEFLDYQ LDELSRQRAL
CRGGREIQRQ ELDENISKVS KERQELASKI KEVQGRPQKT QSIIILESHI ICCTLSTSGG
LLLESAFRGQ GGVPFSCVIV DEAGQSCEIE TLTPLIHRCN KLILVGDPKQ LPPTVISMKA
QEYGYDQSMM ARFCRLLEEN VEHNMISRLP ILQLTVQYRM HPDICLFPSN YVYNRNLKTN
RQTEAIRCSS DWPFQPYLVF DVGDGSERRD NDSYINVQEI KLVMEIIKLI KDKRKDVSFR
NIGIITHYKA QKTMIQKDLD KEFDRKGPAE VDTVDAFQGR QKDCVIVTCV RANSIQGSIG
FLASLQRLNV TITRAKYSLF ILGHLRTLMQ LLPRSFCVHV NHSPFFSPEP KYLHWALKEN
QHWNQLIQDA QKRGAIIKTC DKNYRHDAVK ILKLKPVLQR SLTHPPTIAP EGSRPQGGLP
SSKLDSGFAK TSVAASLYHT PSDSKEITLT VTSKDPERPP VHDQLQDPRL LKRMGIEVKG
GIFLWDPQPS SPQHPGATPP TGEPGFPVVH QDLSHIQQPA AVVAALSSHK PPVRGEPPAA
SPEASTCQSK CDDPEEELCH RREARAFSEG EQEKCGSETH HTRRNSRWDK RTLEQEDSSS
KKRKLL*
mutated AA sequence MSTCCWCTPG GASTIDFLKR YASNTPSGEF QTADEDLCYC LECVAEYHKA RDELPFLHEV
LWELETLRLI NHFEKSMKAE IGDDDELYIV DNNGEMPLFD ITGQDFENKL RVPLLEILKY
PYLLLHERVN ELCVEALCRM EQANCSFQVF DKHPGIYLFL VHPNEMVRRW AILTARNLGK
VDRDDYYDLQ EVLLCLFKVI ELGLLESPDI YTSSVLEKGK LILLPSHMYD TTNYKSYWLG
ICMLLTILEE QAMDSLLLGS DKQNDFMQSI LHTMEREADD DSVDPFWPAL HCFMVILDRL
GSKVWGQLMD PIVAFQTIIN NASYNREIRH IRNSSVRTKL EPESYLDDMV TCSQIVYNYN
PEKTKKDSGW RTAICPDYCP NMYEEMETLA SVLQSDIGQD MRVHNSTFLW FIPFVQSLMD
LKDLGVAYIA QVVNHLYSEV KEVLNQTDAV CDKVTEFFLL ILVSVIELHR NKKCLHLLWV
SSQQWVEAVV KCAKLPTTAF TRSSEKSSGN CSKGTAMISS LSLHSMPSNS VQLAYVQLIR
SLLKEGYQLG QQSLCKRFWD KLNLFLRGNL SLGWQLTSQE THELQSCLKQ IIRNIKFKAP
PCNTFVDLTS ACKISPASYN KEESEQMGKT SRKDMHCLEA SSPTFSKEPM KVQDSVLIKA
DNTIEGDNNE QNYIKDVKLE DHLLAGSCLK QSSKNIFTER AEDQIKISTR KQKSVKEISS
YTPKDCTSRN GPERGCDRGI IVSTRLLTDS STDALEKVST SNEDFSLKDD ALAKTSKRKT
KVQKDEICAK LSHVIKKQHR KSTLVDNTIN LDENLTVSNI ESFYSRKDTG VQKGDGFIHN
LSLDPSGVLD DKNGEQKSQN NVLPKEKQLK NEELVIFSFH ENNCKIQEFH VDGKELIPFT
EMTNASEKKS SPFKDLMTVP ESRDEEMSNS TSVIYSNLTR EQAPDISPKS DTLTDSQIDR
DLHKLSLLAQ ASVITFPSDS PQNSSQLQRK VKEDKRCFTA NQNNVGDTSR GQVIIISDSD
DDDDERILSL EKLTKQDKIC LEREHPEQHV STVNSKEEKN PVKEEKTETL FQFEESDSQC
FEFESSSEVF SVWQDHPDDN NSVQDGEKKC LAPIANTTNG QGCTDYVSEV VKKGAEGIEE
HTRPRSISVE EFCEIEVKKP KRKRSEKPMA EDPVRPSSSV RNEGQSDTNK RDLVGNDFKS
IDRRTSTPNS RIQRATTVSQ KKSSKLCTCT EPIRKVPVSK TPKKTHSDAK KRQNRSSNYL
SCRTTPAIVP PKKFRQCPEP TSTAEKLGLK KGPRKAYELS QRSLDYVAQL RDHGKTVGVV
DTRKKTKLIS PQNLSVRNNK KLLTSQELQM QRQIRPKSQK NRRRLSDCES TDVKRAGSHT
AQNSDIFVPE SDRSDYNCTG GTEVLANSNR KQLIKCMPSE PETIKAKHGS PATDDACPLN
QCDSVVLNGT VPTNEVIVST SEDPLGGGDP TARHIEMAAL KEGEPDSSSD AEEDNLFLTQ
NDPEDMDLCS QMENDNYKLI ELIHGKDTVE VEEDSVSRPQ LESLSGTKCK YKDCLETTKN
QGEYCPKHSE VKAADEDVFR KPGLPPPASK PLRPTTKIFS SKSTSRIAGL SKSLETSSAL
SPSLKNKSKG IQSILKVPQP VPLIAQKPVG EMKNSCNVLH PQSPNNSNRQ GCKVPFGESK
YFPSSSPVNI LLSSQSVSDT FVKEVLKWKY EMFLNFGQCG PPASLCQSIS RPVPVRFHNY
GDYFNVFFPL MVLNTFETVA QEWLNSPNRE NFYQLQVRKF PADYIKYWEF AVYLEECELA
KQLYPKENDL VFLAPERINE EKKDTERNDI QDLHEYHSGY VHKFRRTSVM RNGKTECYLS
IQTQENFPAN LNELVNCIVI SSLVTTQRKL KAMSLLGSRN QLARAVLNPN PMDFCTKDLL
TTTSERIIAY LRDFNEDQKK AIETAYAMVK HSPSVAKICL IHGPPGTGKS KTIVGLLYRL
LTENQRKGHS DENSNAKIKQ NRVLVCAPSN AAVDELMKKI ILEFKEKCKD KKNPLGNCGD
INLVRLGPEK SINSEVLKFS LDSQVNHRMK KELPSHVQAM HKRKEFLDYQ LDELSRQRAL
CRGGREIQRQ ELDENISKVS KERQELASKI KEVQGRPQKT QSIIILESHI ICCTLSTSGG
LLLESAFRGQ GGVPFSCVIV DEAGQSCEIE TLTPLIHRCN KLILVGDPKQ LPPTVISMKA
QEYGYDQSMM ARFCRLLEEN VEHNMISRLP ILQLTVQYRM HPDICLFPSN YVYNRNLKTN
RQTEAIRCSS DWPFQPYLVF DVGDGSERRD NDSYINVQEI KLVMEIIKLI KDKRKDVSFR
NIGIITHYKA QKTMIQKDLD KEFDRKGPAE VDTVDAFQGR QKDCVIVTCV RANSIQGSIG
FLASLQRLNV TITRAKYSLF ILGHLRTLMQ LLPRSFCVHV NHSPFFSPEP KYLHWALKEN
QHWNQLIQDA QKRGAIIKTC DKNYRHDAVK ILKLKPVLQR SLTHPPTIAP EGSRPQGGLP
SSKLDSGFAK TSVAASLYHT PSDSKEITLT VTSKDPERPP VHDQLQDPRL LKRMGIEVKG
GIFLWDPQPS SPQHPGATPP TGEPGFPVVH QDLSHIQQPA AVVAALSSHK PPVRGEPPAA
SPEASTCQSK CDDPEEELCH RREARAFSEG EQEKCGSETH HTRRNSRWDK RTLEQEDSSS
KKRKLL*
speed 0.82 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: 0.224493638064842 (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) chr9:135203231C>TN/A show variant in all transcripts   IGV
HGNC symbol SETX
Ensembl transcript ID ENST00000393220
Genbank transcript ID N/A
UniProt peptide Q7Z333
alteration type single base exchange
alteration region CDS
DNA changes c.3754G>A
cDNA.3937G>A
g.27142G>A
AA changes G1252R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1252
frameshift no
known variant Reference ID: rs1183768
databasehomozygous (T/T)heterozygousallele carriers
1000G9029811883
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5520.967
0.9940.907
(flanking)0.790.713
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 increased27146wt: 0.9874 / mu: 0.9900 (marginal change - not scored)wt: AGGACAGAATAGAAG
mu: AAGACAGAATAGAAG		 GACA|gaat
Donor increased27137wt: 0.60 / mu: 0.99wt: TGCCAAAAAAGGACA
mu: TGCCAAAAAAAGACA		 CCAA|aaaa
Donor increased27142wt: 0.52 / mu: 0.88wt: AAAAAGGACAGAATA
mu: AAAAAAGACAGAATA		 AAAG|gaca
Donor gained271430.33mu: AAAAAGACAGAATAG AAAG|acag
distance from splice site 1521
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1252TPKKTHSDAKKGQNRSSNYLSCRT
mutated  not conserved    1252TPKKTHSDAKKRQNRSSNYL
Ptroglodytes  all identical  ENSPTRG00000021495  1251TPKKTHSDAKKGQNRSSNYL
Mmulatta  all identical  ENSMMUG00000018468  1254TPKKTHSDAKKGQNRS
Fcatus  all identical  ENSFCAG00000007102  1250T-KKTHSDTKKGQN
Mmusculus  all identical  ENSMUSG00000043535  1240RGQSKSSCYISCR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000022996  1062SSSSSSSSTPSSSSITSPYFSAS
Dmelanogaster  not conserved  FBgn0035842  664---RLLNRSK---SCY
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
12761276CONFLICTQ -> E (in Ref. 5; BAA31600).might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15931593CONFLICTR -> G (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
16211621MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16261626CONFLICTN -> K (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
16341634CONFLICTI -> V (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
16471647MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
16481650CONFLICTPVG -> TRP (in Ref. 4; AAH32622).might get lost (downstream of altered splice site)
17251725CONFLICTL -> P (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
18261826CONFLICTE -> K (in Ref. 2; CAD98045 and 4; AAH32600/AAH32622).might get lost (downstream of altered splice site)
18671867CONFLICTF -> L (in Ref. 1; AAR13367 and 4; AAH32622).might get lost (downstream of altered splice site)
19631970NP_BINDATP (Potential).might get lost (downstream of altered splice site)
20702087MOTIFBipartite nuclear localization signal (Potential).might get lost (downstream of altered splice site)
20782078CONFLICTQ -> L (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
21052136COILEDPotential.might get lost (downstream of altered splice site)
23242324CONFLICTM -> E (in Ref. 6; BAB14299).might get lost (downstream of altered splice site)
24232423CONFLICTG -> E (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
24582458CONFLICTD -> G (in Ref. 2; CAH18105).might get lost (downstream of altered splice site)
25392539CONFLICTP -> S (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
25652565CONFLICTH -> R (in Ref. 2; CAD97857).might get lost (downstream of altered splice site)
25772577CONFLICTF -> L (in Ref. 6; BAB14299).might get lost (downstream of altered splice site)
26612677REGIONNecessary for nuclear localization.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7935 / 7935
position (AA) of stopcodon in wt / mu AA sequence 2645 / 2645
position of stopcodon in wt / mu cDNA 8118 / 8118
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 184 / 184
chromosome 9
strand -1
last intron/exon boundary 7372
theoretical NMD boundary in CDS 7138
length of CDS 7935
coding sequence (CDS) position 3754
cDNA position
(for ins/del: last normal base / first normal base)		 3937
gDNA position
(for ins/del: last normal base / first normal base)		 27142
chromosomal position
(for ins/del: last normal base / first normal base)		 135203231
original gDNA sequence snippet CTCATTCAGATGCCAAAAAAGGACAGAATAGAAGTTCAAAT
altered gDNA sequence snippet CTCATTCAGATGCCAAAAAAAGACAGAATAGAAGTTCAAAT
original cDNA sequence snippet CTCATTCAGATGCCAAAAAAGGACAGAATAGAAGTTCAAAT
altered cDNA sequence snippet CTCATTCAGATGCCAAAAAAAGACAGAATAGAAGTTCAAAT
wildtype AA sequence MSTCCWCTPG GASTIDFLKR YASNTPSGEF QTADEDLCYC LECVAEYHKA RDELPFLHEV
LWELETLRLI NHFEKSMKAE IGDDDELYIV DNNGEMPLFD ITGQDFENKL RVPLLEILKY
PYLLLHERVN ELCVEALCRM EQANCSFQVF DKHPGIYLFL VHPNEMVRRW AILTARNLGK
VDRDDYYDLQ EVLLCLFKVI ELGLLESPDI YTSSVLEKGK LILLPSHMYD TTNYKSYWLG
ICMLLTILEE QAMDSLLLGS DKQNDFMQSI LHTMEREADD DSVDPFWPAL HCFMVILDRL
GSKVWGQLMD PIVAFQTIIN NASYNREIRH IRNSSVRTKL EPESYLDDMV TCSQIVYNYN
PEKTKKDSGW RTAICPDYCP NMYEEMETLA SVLQSDIGQD MRVHNSTFLW FIPFVQSLMD
LKDLGVAYIA QVVNHLYSEV KEVLNQTDAV CDKVTEFFLL ILVSVIELHR NKKCLHLLWV
SSQQWVEAVV KCAKLPTTAF TRSSEKSSGN CSKGTAMISS LSLHSMPSNS VQLAYVQLIR
SLLKEGYQLG QQSLCKRFWD KLNLFLRGNL SLGWQLTSQE THELQSCLKQ IIRNIKFKAP
PCNTFVDLTS ACKISPASYN KEESEQMGKT SRKDMHCLEA SSPTFSKEPM KVQDSVLIKA
DNTIEGDNNE QNYIKDVKLE DHLLAGSCLK QSSKNIFTER AEDQIKISTR KQKSVKEISS
YTPKDCTSRN GPERGCDRGI IVSTRLLTDS STDALEKVST SNEDFSLKDD ALAKTSKRKT
KVQKDEICAK LSHVIKKQHR KSTLVDNTIN LDENLTVSNI ESFYSRKDTG VQKGDGFIHN
LSLDPSGVLD DKNGEQKSQN NVLPKEKQLK NEELVIFSFH ENNCKIQEFH VDGKELIPFT
EMTNASEKKS SPFKDLMTVP ESRDEEMSNS TSVIYSNLTR EQAPDISPKS DTLTDSQIDR
DLHKLSLLAQ ASVITFPSDS PQNSSQLQRK VKEDKRCFTA NQNNVGDTSR GQVIIISDSD
DDDDERILSL EKLTKQDKIC LEREHPEQHV STVNSKEEKN PVKEEKTETL FQFEESDSQC
FEFESSSEVF SVWQDHPDDN NSVQDGEKKC LAPIANTTNG QGCTDYVSEV VKKGAEGIEE
HTRPRSISVE EFCEIEVKKP KRKRSEKPMA EDPVRPSSSV RNEGQSDTNK RDLVGNDFKS
IDRRTSTPNS RIQRATTVSQ KKSSKLCTCT EPIRKVPVSK TPKKTHSDAK KGQNRSSNYL
SCRTTPAIVP PKKFRQCPEP TSTAEKLGLK KGPRKAYELS QRSLDYVAQL RDHGKTVGVV
DTRKKTKLIS PQNLSVRNNK KLLTSQELQM QRQIRPKSQK NRRRLSDCES TDVKRAGSHT
AQNSDIFVPE SDRSDYNCTG GTEVLANSNR KQLIKCMPSE PETIKAKHGS PATDDACPLN
QCDSVVLNGT VPTNEVIVST SEDPLGGGDP TARHIEMAAL KEGEPDSSSD AEEDNLFLTQ
NDPEDMDLCS QMENDNYKLI ELIHGKDTVE VEEDSVSRPQ LESLSGTKCK YKDCLETTKN
QGEYCPKHSE VKAADEDVFR KPGLPPPASK PLRPTTKIFS SKSTSRIAGL SKSLETSSAL
SPSLKNKSKG IQSILKVPQP VPLIAQKPVG EMKNSCNVLH PQSPNNSNRQ GCKVPFGESK
YFPSSSPVNI LLSSQSVSDT FVKEVLKWKY EMFLNFGQCG PPASLCQSIS RPVPVRFHNY
GDYFNVFFPL MVLNTFETVA QEWLNSPNRE NFYQLQVRKF PADYIKYWEF AVYLEECELA
KQLYPKENDL VFLAPERINE EKKDTERNDI QDLHEYHSGY VHKFRRTSVM RNGKTECYLS
IQTQENFPAN LNELVNCIVI SSLVTTQRKL KAMSLLGSRN QLARAVLNPN PMDFCTKDLL
TTTSERIIAY LRDFNEDQKK AIETAYAMVK HSPSVAKICL IHGPPGTGKS KTIVGLLYRL
LTENQRKGHS DENSNAKIKQ NRVLVCAPSN AAVDELMKKI ILEFKEKCKD KKNPLGNCGD
INLVRLGPEK SINSEVLKFS LDSQVNHRMK KELPSHVQAM HKRKEFLDYQ LDELSRQRAL
CRGGREIQRQ ELDENISKVS KERQELASKI KEVQGRPQKT QSIIILESHI ICCTLSTSGG
LLLESAFRGQ GGVPFSCVIV DEAGQSCEIE TLTPLIHRCN KLILVGDPKQ LPPTVISMKA
QEYGYDQSMM ARFCRLLEEN VEHNMISRLP ILQLTVQYRM HPDICLFPSN YVYNRNLKTN
RQTEAIRCSS DWPFQPYLVF DVGDGSERRD NDSYINVQEI KLVMEIIKLI KDKRKDVSFR
NIGIITHYKA QKTMIQKDLD KEFDRKGFLA SLQRLNVTIT RAKYSLFILG HLRTLMENQH
WNQLIQDAQK RGAIIKTCDK NYRHDAVKIL KLKPVLQRSL THPPTIAPEG SRPQGGLPSS
KLDSGFAKTS VAASLYHTPS DSKEITLTVT SKDPERPPVH DQLQDPRLLK RMGIEVKGGI
FLWDPQPSSP QHPGATPPTG EPGFPVVHQD LSHIQQPAAV VAALSSHKPP VRGEPPAASP
EASTCQSKCD DPEEELCHRR EARAFSEGEQ EKCGSETHHT RRNSRWDKRT LEQEDSSSKK
RKLL*
mutated AA sequence MSTCCWCTPG GASTIDFLKR YASNTPSGEF QTADEDLCYC LECVAEYHKA RDELPFLHEV
LWELETLRLI NHFEKSMKAE IGDDDELYIV DNNGEMPLFD ITGQDFENKL RVPLLEILKY
PYLLLHERVN ELCVEALCRM EQANCSFQVF DKHPGIYLFL VHPNEMVRRW AILTARNLGK
VDRDDYYDLQ EVLLCLFKVI ELGLLESPDI YTSSVLEKGK LILLPSHMYD TTNYKSYWLG
ICMLLTILEE QAMDSLLLGS DKQNDFMQSI LHTMEREADD DSVDPFWPAL HCFMVILDRL
GSKVWGQLMD PIVAFQTIIN NASYNREIRH IRNSSVRTKL EPESYLDDMV TCSQIVYNYN
PEKTKKDSGW RTAICPDYCP NMYEEMETLA SVLQSDIGQD MRVHNSTFLW FIPFVQSLMD
LKDLGVAYIA QVVNHLYSEV KEVLNQTDAV CDKVTEFFLL ILVSVIELHR NKKCLHLLWV
SSQQWVEAVV KCAKLPTTAF TRSSEKSSGN CSKGTAMISS LSLHSMPSNS VQLAYVQLIR
SLLKEGYQLG QQSLCKRFWD KLNLFLRGNL SLGWQLTSQE THELQSCLKQ IIRNIKFKAP
PCNTFVDLTS ACKISPASYN KEESEQMGKT SRKDMHCLEA SSPTFSKEPM KVQDSVLIKA
DNTIEGDNNE QNYIKDVKLE DHLLAGSCLK QSSKNIFTER AEDQIKISTR KQKSVKEISS
YTPKDCTSRN GPERGCDRGI IVSTRLLTDS STDALEKVST SNEDFSLKDD ALAKTSKRKT
KVQKDEICAK LSHVIKKQHR KSTLVDNTIN LDENLTVSNI ESFYSRKDTG VQKGDGFIHN
LSLDPSGVLD DKNGEQKSQN NVLPKEKQLK NEELVIFSFH ENNCKIQEFH VDGKELIPFT
EMTNASEKKS SPFKDLMTVP ESRDEEMSNS TSVIYSNLTR EQAPDISPKS DTLTDSQIDR
DLHKLSLLAQ ASVITFPSDS PQNSSQLQRK VKEDKRCFTA NQNNVGDTSR GQVIIISDSD
DDDDERILSL EKLTKQDKIC LEREHPEQHV STVNSKEEKN PVKEEKTETL FQFEESDSQC
FEFESSSEVF SVWQDHPDDN NSVQDGEKKC LAPIANTTNG QGCTDYVSEV VKKGAEGIEE
HTRPRSISVE EFCEIEVKKP KRKRSEKPMA EDPVRPSSSV RNEGQSDTNK RDLVGNDFKS
IDRRTSTPNS RIQRATTVSQ KKSSKLCTCT EPIRKVPVSK TPKKTHSDAK KRQNRSSNYL
SCRTTPAIVP PKKFRQCPEP TSTAEKLGLK KGPRKAYELS QRSLDYVAQL RDHGKTVGVV
DTRKKTKLIS PQNLSVRNNK KLLTSQELQM QRQIRPKSQK NRRRLSDCES TDVKRAGSHT
AQNSDIFVPE SDRSDYNCTG GTEVLANSNR KQLIKCMPSE PETIKAKHGS PATDDACPLN
QCDSVVLNGT VPTNEVIVST SEDPLGGGDP TARHIEMAAL KEGEPDSSSD AEEDNLFLTQ
NDPEDMDLCS QMENDNYKLI ELIHGKDTVE VEEDSVSRPQ LESLSGTKCK YKDCLETTKN
QGEYCPKHSE VKAADEDVFR KPGLPPPASK PLRPTTKIFS SKSTSRIAGL SKSLETSSAL
SPSLKNKSKG IQSILKVPQP VPLIAQKPVG EMKNSCNVLH PQSPNNSNRQ GCKVPFGESK
YFPSSSPVNI LLSSQSVSDT FVKEVLKWKY EMFLNFGQCG PPASLCQSIS RPVPVRFHNY
GDYFNVFFPL MVLNTFETVA QEWLNSPNRE NFYQLQVRKF PADYIKYWEF AVYLEECELA
KQLYPKENDL VFLAPERINE EKKDTERNDI QDLHEYHSGY VHKFRRTSVM RNGKTECYLS
IQTQENFPAN LNELVNCIVI SSLVTTQRKL KAMSLLGSRN QLARAVLNPN PMDFCTKDLL
TTTSERIIAY LRDFNEDQKK AIETAYAMVK HSPSVAKICL IHGPPGTGKS KTIVGLLYRL
LTENQRKGHS DENSNAKIKQ NRVLVCAPSN AAVDELMKKI ILEFKEKCKD KKNPLGNCGD
INLVRLGPEK SINSEVLKFS LDSQVNHRMK KELPSHVQAM HKRKEFLDYQ LDELSRQRAL
CRGGREIQRQ ELDENISKVS KERQELASKI KEVQGRPQKT QSIIILESHI ICCTLSTSGG
LLLESAFRGQ GGVPFSCVIV DEAGQSCEIE TLTPLIHRCN KLILVGDPKQ LPPTVISMKA
QEYGYDQSMM ARFCRLLEEN VEHNMISRLP ILQLTVQYRM HPDICLFPSN YVYNRNLKTN
RQTEAIRCSS DWPFQPYLVF DVGDGSERRD NDSYINVQEI KLVMEIIKLI KDKRKDVSFR
NIGIITHYKA QKTMIQKDLD KEFDRKGFLA SLQRLNVTIT RAKYSLFILG HLRTLMENQH
WNQLIQDAQK RGAIIKTCDK NYRHDAVKIL KLKPVLQRSL THPPTIAPEG SRPQGGLPSS
KLDSGFAKTS VAASLYHTPS DSKEITLTVT SKDPERPPVH DQLQDPRLLK RMGIEVKGGI
FLWDPQPSSP QHPGATPPTG EPGFPVVHQD LSHIQQPAAV VAALSSHKPP VRGEPPAASP
EASTCQSKCD DPEEELCHRR EARAFSEGEQ EKCGSETHHT RRNSRWDKRT LEQEDSSSKK
RKLL*
speed 0.36 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