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: ENST00000220616
Querying Taster for transcript #2: ENST00000377869
MT speed 0 s - this script 3.67661 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TGpolymorphism_automatic5.94791385359894e-05simple_aaeaffectedS734Asingle base exchangers180223show file
TGpolymorphism_automatic5.94791385359894e-05simple_aaeaffectedS734Asingle base exchangers180223show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999940520861464 (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) chr8:133900252T>GN/A show variant in all transcripts   IGV
HGNC symbol TG
Ensembl transcript ID ENST00000220616
Genbank transcript ID NM_003235
UniProt peptide P01266
alteration type single base exchange
alteration region CDS
DNA changes c.2200T>G
cDNA.2240T>G
g.21050T>G
AA changes S734A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 734
frameshift no
known variant Reference ID: rs180223
databasehomozygous (G/G)heterozygousallele carriers
1000G116910492218
ExAC20870-897311897
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4290.794
2.2320.988
(flanking)3.110.993
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 increased21043wt: 0.2849 / mu: 0.3214 (marginal change - not scored)wt: CCAGGCCCCACGCCCTGTCAATTACAGTCTGAGCAAGCTTT
mu: CCAGGCCCCACGCCCTGTCAATTACAGGCTGAGCAAGCTTT		 tcaa|TTAC
Acc increased21042wt: 0.55 / mu: 0.75wt: CCCAGGCCCCACGCCCTGTCAATTACAGTCTGAGCAAGCTT
mu: CCCAGGCCCCACGCCCTGTCAATTACAGGCTGAGCAAGCTT		 gtca|ATTA
Donor increased21049wt: 0.27 / mu: 0.99wt: TTACAGTCTGAGCAA
mu: TTACAGGCTGAGCAA		 ACAG|tctg
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      734PKKCPTPCQLQSEQAFLRTVQALL
mutated  all conserved    734PKKCPTPCQLQAEQAFLRTVQAL
Ptroglodytes  not conserved  ENSPTRG00000020599  153AQCPSLCNVLKSGVLSRRV---
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000011954  n/a
Mmusculus  all conserved  ENSMUSG00000053469  734AKQCPSVCQLQAEQAFLGVVGVL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000020084  714SLQCPTSCQAIAIQQFQSTIRSL
Dmelanogaster  no homologue    
Celegans  no alignment  F55F3.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
727921DOMAINThyroglobulin type-1 7.lost
730730DISULFIDBy similarity.might get lost (downstream of altered splice site)
748748CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
763763DISULFIDBy similarity.might get lost (downstream of altered splice site)
774774DISULFIDBy similarity.might get lost (downstream of altered splice site)
816816CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
848848CONFLICTMissing (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
898898DISULFIDBy similarity.might get lost (downstream of altered splice site)
900900DISULFIDBy similarity.might get lost (downstream of altered splice site)
921921DISULFIDBy similarity.might get lost (downstream of altered splice site)
9221073DOMAINThyroglobulin type-1 8.might get lost (downstream of altered splice site)
947947CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
984985CONFLICTEQ -> DR (in Ref. 5; CAA29456).might get lost (downstream of altered splice site)
10421042DISULFIDBy similarity.might get lost (downstream of altered splice site)
10491049DISULFIDBy similarity.might get lost (downstream of altered splice site)
10511051DISULFIDBy similarity.might get lost (downstream of altered splice site)
10731073DISULFIDBy similarity.might get lost (downstream of altered splice site)
10741145DOMAINThyroglobulin type-1 9.might get lost (downstream of altered splice site)
10771077DISULFIDBy similarity.might get lost (downstream of altered splice site)
11081108DISULFIDBy similarity.might get lost (downstream of altered splice site)
11261126DISULFIDBy similarity.might get lost (downstream of altered splice site)
11451145DISULFIDBy similarity.might get lost (downstream of altered splice site)
11461210DOMAINThyroglobulin type-1 10.might get lost (downstream of altered splice site)
11491149DISULFIDBy similarity.might get lost (downstream of altered splice site)
11691169DISULFIDBy similarity.might get lost (downstream of altered splice site)
11811181DISULFIDBy similarity.might get lost (downstream of altered splice site)
11881188DISULFIDBy similarity.might get lost (downstream of altered splice site)
11901190DISULFIDBy similarity.might get lost (downstream of altered splice site)
12101210DISULFIDBy similarity.might get lost (downstream of altered splice site)
12201220CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
13101310MOD_RESThyroxine.might get lost (downstream of altered splice site)
13481348CARBOHYDN-linked (GlcNAc...) (Probable).might get lost (downstream of altered splice site)
13491349CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
13591360CONFLICTMissing (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
13651365CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
14561469REPEATType II.might get lost (downstream of altered splice site)
14701486REPEATType II.might get lost (downstream of altered splice site)
14871503REPEATType II.might get lost (downstream of altered splice site)
15111565DOMAINThyroglobulin type-1 11.might get lost (downstream of altered splice site)
15141514DISULFIDBy similarity.might get lost (downstream of altered splice site)
15231523DISULFIDBy similarity.might get lost (downstream of altered splice site)
15431543DISULFIDBy similarity.might get lost (downstream of altered splice site)
15651565DISULFIDBy similarity.might get lost (downstream of altered splice site)
16031723REPEATType IIIA.might get lost (downstream of altered splice site)
17161716CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
17171717CONFLICTL -> A (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
17241892REPEATType IIIB.might get lost (downstream of altered splice site)
17741774CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
17761776CONFLICTT -> S (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
18691869SITENot glycosylated.might get lost (downstream of altered splice site)
18931995REPEATType IIIA.might get lost (downstream of altered splice site)
19962129REPEATType IIIB.might get lost (downstream of altered splice site)
20132013CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
20192019CONFLICTG -> H (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
21222122SITENot glycosylated.might get lost (downstream of altered splice site)
21302187REPEATType IIIA.might get lost (downstream of altered splice site)
22502250CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
22642264DISULFIDPotential.might get lost (downstream of altered splice site)
22812281DISULFIDPotential.might get lost (downstream of altered splice site)
22872287CONFLICTF -> P (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
22952295CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
25732573MOD_RESThyroxine.might get lost (downstream of altered splice site)
25822582CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
25872587MOD_RESThyroxine.might get lost (downstream of altered splice site)
27492749CARBOHYDO-linked (Xyl...) (chondroitin sulfate).might get lost (downstream of altered splice site)
27662766MOD_RESTriiodothyronine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8307 / 8307
position (AA) of stopcodon in wt / mu AA sequence 2769 / 2769
position of stopcodon in wt / mu cDNA 8347 / 8347
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 41 / 41
chromosome 8
strand 1
last intron/exon boundary 8229
theoretical NMD boundary in CDS 8138
length of CDS 8307
coding sequence (CDS) position 2200
cDNA position
(for ins/del: last normal base / first normal base)		 2240
gDNA position
(for ins/del: last normal base / first normal base)		 21050
chromosomal position
(for ins/del: last normal base / first normal base)		 133900252
original gDNA sequence snippet CCACGCCCTGTCAATTACAGTCTGAGCAAGCTTTCCTCAGG
altered gDNA sequence snippet CCACGCCCTGTCAATTACAGGCTGAGCAAGCTTTCCTCAGG
original cDNA sequence snippet CCACGCCCTGTCAATTACAGTCTGAGCAAGCTTTCCTCAGG
altered cDNA sequence snippet CCACGCCCTGTCAATTACAGGCTGAGCAAGCTTTCCTCAGG
wildtype AA sequence MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHC VTDCQRNEAG LQCDQNGQYR ASQKDRGSGK AFCVDGEGRR LPWWETEAPL
EDSQCLMMQK FEKVPESKVI FDANAPVAVR SKVPDSEFPV MQCLTDCTED EACSFFTVST
TEPEISCDFY AWTSDNVACM TSDQKRDALG NSKATSFGSL RCQVKVRSHG QDSPAVYLKK
GQGSTTTLQK RFEPTGFQNM LSGLYNPIVF SASGANLTDA HLFCLLACDR DLCCDGFVLT
QVQGGAIICG LLSSPSVLLC NVKDWMDPSE AWANATCPGV TYDQESHQVI LRLGDQEFIK
SLTPLEGTQD TFTNFQQVYL WKDSDMGSRP ESMGCRKDTV PRPASPTEAG LTTELFSPVD
LNQVIVNGNQ SLSSQKHWLF KHLFSAQQAN LWCLSRCVQE HSFCQLAEIT ESASLYFTCT
LYPEAQVCDD IMESNAQGCR LILPQMPKAL FRKKVILEDK VKNFYTRLPF QKLMGISIRN
KVPMSEKSIS NGFFECERRC DADPCCTGFG FLNVSQLKGG EVTCLTLNSL GIQMCSEENG
GAWRILDCGS PDIEVHTYPF GWYQKPIAQN NAPSFCPLVV LPSLTEKVSL DSWQSLALSS
VVVDPSIRHF DVAHVSTAAT SNFSAVRDLC LSECSQHEAC LITTLQTQPG AVRCMFYADT
QSCTHSLQGQ NCRLLLREEA THIYRKPGIS LLSYEASVPS VPISTHGRLL GRSQAIQVGT
SWKQVDQFLG VPYAAPPLAE RRFQAPEPLN WTGSWDASKP RASCWQPGTR TSTSPGVSED
CLYLNVFIPQ NVAPNASVLV FFHNTMDREE SEGWPAIDGS FLAAVGNLIV VTASYRVGVF
GFLSSGSGEV SGNWGLLDQV AALTWVQTHI RGFGGDPRRV SLAADRGGAD VASIHLLTAR
ATNSQLFRRA VLMGGSALSP AAVISHERAQ QQAIALAKEV SCPMSSSQEV VSCLRQKPAN
VLNDAQTKLL AVSGPFHYWG PVIDGHFLRE PPARALKRSL WVEVDLLIGS SQDDGLINRA
KAVKQFEESR GRTSSKTAFY QALQNSLGGE DSDARVEAAA TWYYSLEHST DDYASFSRAL
ENATRDYFII CPIIDMASAW AKRARGNVFM YHAPENYGHG SLELLADVQF ALGLPFYPAY
EGQFSLEEKS LSLKIMQYFS HFIRSGNPNY PYEFSRKVPT FATPWPDFVP RAGGENYKEF
SELLPNRQGL KKADCSFWSK YISSLKTSAD GAKGGQSAES EEEELTAGSG LREDLLSLQE
PGSKTYSK*
mutated AA sequence MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQAEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHC VTDCQRNEAG LQCDQNGQYR ASQKDRGSGK AFCVDGEGRR LPWWETEAPL
EDSQCLMMQK FEKVPESKVI FDANAPVAVR SKVPDSEFPV MQCLTDCTED EACSFFTVST
TEPEISCDFY AWTSDNVACM TSDQKRDALG NSKATSFGSL RCQVKVRSHG QDSPAVYLKK
GQGSTTTLQK RFEPTGFQNM LSGLYNPIVF SASGANLTDA HLFCLLACDR DLCCDGFVLT
QVQGGAIICG LLSSPSVLLC NVKDWMDPSE AWANATCPGV TYDQESHQVI LRLGDQEFIK
SLTPLEGTQD TFTNFQQVYL WKDSDMGSRP ESMGCRKDTV PRPASPTEAG LTTELFSPVD
LNQVIVNGNQ SLSSQKHWLF KHLFSAQQAN LWCLSRCVQE HSFCQLAEIT ESASLYFTCT
LYPEAQVCDD IMESNAQGCR LILPQMPKAL FRKKVILEDK VKNFYTRLPF QKLMGISIRN
KVPMSEKSIS NGFFECERRC DADPCCTGFG FLNVSQLKGG EVTCLTLNSL GIQMCSEENG
GAWRILDCGS PDIEVHTYPF GWYQKPIAQN NAPSFCPLVV LPSLTEKVSL DSWQSLALSS
VVVDPSIRHF DVAHVSTAAT SNFSAVRDLC LSECSQHEAC LITTLQTQPG AVRCMFYADT
QSCTHSLQGQ NCRLLLREEA THIYRKPGIS LLSYEASVPS VPISTHGRLL GRSQAIQVGT
SWKQVDQFLG VPYAAPPLAE RRFQAPEPLN WTGSWDASKP RASCWQPGTR TSTSPGVSED
CLYLNVFIPQ NVAPNASVLV FFHNTMDREE SEGWPAIDGS FLAAVGNLIV VTASYRVGVF
GFLSSGSGEV SGNWGLLDQV AALTWVQTHI RGFGGDPRRV SLAADRGGAD VASIHLLTAR
ATNSQLFRRA VLMGGSALSP AAVISHERAQ QQAIALAKEV SCPMSSSQEV VSCLRQKPAN
VLNDAQTKLL AVSGPFHYWG PVIDGHFLRE PPARALKRSL WVEVDLLIGS SQDDGLINRA
KAVKQFEESR GRTSSKTAFY QALQNSLGGE DSDARVEAAA TWYYSLEHST DDYASFSRAL
ENATRDYFII CPIIDMASAW AKRARGNVFM YHAPENYGHG SLELLADVQF ALGLPFYPAY
EGQFSLEEKS LSLKIMQYFS HFIRSGNPNY PYEFSRKVPT FATPWPDFVP RAGGENYKEF
SELLPNRQGL KKADCSFWSK YISSLKTSAD GAKGGQSAES EEEELTAGSG LREDLLSLQE
PGSKTYSK*
speed 0.73 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: 0.999940520861464 (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) chr8:133900252T>GN/A show variant in all transcripts   IGV
HGNC symbol TG
Ensembl transcript ID ENST00000377869
Genbank transcript ID N/A
UniProt peptide P01266
alteration type single base exchange
alteration region CDS
DNA changes c.2200T>G
cDNA.2241T>G
g.21050T>G
AA changes S734A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 734
frameshift no
known variant Reference ID: rs180223
databasehomozygous (G/G)heterozygousallele carriers
1000G116910492218
ExAC20870-897311897
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4290.794
2.2320.988
(flanking)3.110.993
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 increased21043wt: 0.2849 / mu: 0.3214 (marginal change - not scored)wt: CCAGGCCCCACGCCCTGTCAATTACAGTCTGAGCAAGCTTT
mu: CCAGGCCCCACGCCCTGTCAATTACAGGCTGAGCAAGCTTT		 tcaa|TTAC
Acc increased21042wt: 0.55 / mu: 0.75wt: CCCAGGCCCCACGCCCTGTCAATTACAGTCTGAGCAAGCTT
mu: CCCAGGCCCCACGCCCTGTCAATTACAGGCTGAGCAAGCTT		 gtca|ATTA
Donor increased21049wt: 0.27 / mu: 0.99wt: TTACAGTCTGAGCAA
mu: TTACAGGCTGAGCAA		 ACAG|tctg
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      734PKKCPTPCQLQSEQAFLRTVQALL
mutated  all conserved    734PKKCPTPCQLQAEQAFLRTVQAL
Ptroglodytes  not conserved  ENSPTRG00000020599  153AQCPSLCNVLKSGVLSRRV---
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000011954  n/a
Mmusculus  all conserved  ENSMUSG00000053469  734AKQCPSVCQLQAEQAFLGVVGVL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000020084  714SLQCPTSCQAIAIQQFQSTIRSL
Dmelanogaster  no homologue    
Celegans  no alignment  F55F3.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
727921DOMAINThyroglobulin type-1 7.lost
730730DISULFIDBy similarity.might get lost (downstream of altered splice site)
748748CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
763763DISULFIDBy similarity.might get lost (downstream of altered splice site)
774774DISULFIDBy similarity.might get lost (downstream of altered splice site)
816816CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
848848CONFLICTMissing (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
898898DISULFIDBy similarity.might get lost (downstream of altered splice site)
900900DISULFIDBy similarity.might get lost (downstream of altered splice site)
921921DISULFIDBy similarity.might get lost (downstream of altered splice site)
9221073DOMAINThyroglobulin type-1 8.might get lost (downstream of altered splice site)
947947CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
984985CONFLICTEQ -> DR (in Ref. 5; CAA29456).might get lost (downstream of altered splice site)
10421042DISULFIDBy similarity.might get lost (downstream of altered splice site)
10491049DISULFIDBy similarity.might get lost (downstream of altered splice site)
10511051DISULFIDBy similarity.might get lost (downstream of altered splice site)
10731073DISULFIDBy similarity.might get lost (downstream of altered splice site)
10741145DOMAINThyroglobulin type-1 9.might get lost (downstream of altered splice site)
10771077DISULFIDBy similarity.might get lost (downstream of altered splice site)
11081108DISULFIDBy similarity.might get lost (downstream of altered splice site)
11261126DISULFIDBy similarity.might get lost (downstream of altered splice site)
11451145DISULFIDBy similarity.might get lost (downstream of altered splice site)
11461210DOMAINThyroglobulin type-1 10.might get lost (downstream of altered splice site)
11491149DISULFIDBy similarity.might get lost (downstream of altered splice site)
11691169DISULFIDBy similarity.might get lost (downstream of altered splice site)
11811181DISULFIDBy similarity.might get lost (downstream of altered splice site)
11881188DISULFIDBy similarity.might get lost (downstream of altered splice site)
11901190DISULFIDBy similarity.might get lost (downstream of altered splice site)
12101210DISULFIDBy similarity.might get lost (downstream of altered splice site)
12201220CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
13101310MOD_RESThyroxine.might get lost (downstream of altered splice site)
13481348CARBOHYDN-linked (GlcNAc...) (Probable).might get lost (downstream of altered splice site)
13491349CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
13591360CONFLICTMissing (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
13651365CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
14561469REPEATType II.might get lost (downstream of altered splice site)
14701486REPEATType II.might get lost (downstream of altered splice site)
14871503REPEATType II.might get lost (downstream of altered splice site)
15111565DOMAINThyroglobulin type-1 11.might get lost (downstream of altered splice site)
15141514DISULFIDBy similarity.might get lost (downstream of altered splice site)
15231523DISULFIDBy similarity.might get lost (downstream of altered splice site)
15431543DISULFIDBy similarity.might get lost (downstream of altered splice site)
15651565DISULFIDBy similarity.might get lost (downstream of altered splice site)
16031723REPEATType IIIA.might get lost (downstream of altered splice site)
17161716CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
17171717CONFLICTL -> A (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
17241892REPEATType IIIB.might get lost (downstream of altered splice site)
17741774CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
17761776CONFLICTT -> S (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
18691869SITENot glycosylated.might get lost (downstream of altered splice site)
18931995REPEATType IIIA.might get lost (downstream of altered splice site)
19962129REPEATType IIIB.might get lost (downstream of altered splice site)
20132013CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
20192019CONFLICTG -> H (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
21222122SITENot glycosylated.might get lost (downstream of altered splice site)
21302187REPEATType IIIA.might get lost (downstream of altered splice site)
22502250CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
22642264DISULFIDPotential.might get lost (downstream of altered splice site)
22812281DISULFIDPotential.might get lost (downstream of altered splice site)
22872287CONFLICTF -> P (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
22952295CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
25732573MOD_RESThyroxine.might get lost (downstream of altered splice site)
25822582CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
25872587MOD_RESThyroxine.might get lost (downstream of altered splice site)
27492749CARBOHYDO-linked (Xyl...) (chondroitin sulfate).might get lost (downstream of altered splice site)
27662766MOD_RESTriiodothyronine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8136 / 8136
position (AA) of stopcodon in wt / mu AA sequence 2712 / 2712
position of stopcodon in wt / mu cDNA 8177 / 8177
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 42 / 42
chromosome 8
strand 1
last intron/exon boundary 8059
theoretical NMD boundary in CDS 7967
length of CDS 8136
coding sequence (CDS) position 2200
cDNA position
(for ins/del: last normal base / first normal base)		 2241
gDNA position
(for ins/del: last normal base / first normal base)		 21050
chromosomal position
(for ins/del: last normal base / first normal base)		 133900252
original gDNA sequence snippet CCACGCCCTGTCAATTACAGTCTGAGCAAGCTTTCCTCAGG
altered gDNA sequence snippet CCACGCCCTGTCAATTACAGGCTGAGCAAGCTTTCCTCAGG
original cDNA sequence snippet CCACGCCCTGTCAATTACAGTCTGAGCAAGCTTTCCTCAGG
altered cDNA sequence snippet CCACGCCCTGTCAATTACAGGCTGAGCAAGCTTTCCTCAGG
wildtype AA sequence MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHL MQKFEKVPES KVIFDANAPV AVRSKVPDSE FPVMQCLTDC TEDEACSFFT
VSTTEPEISC DFYAWTSDNV ACMTSDQKRD ALGNSKATSF GSLRCQVKVR SHGQDSPAVY
LKKGQGSTTT LQKRFEPTGF QNMLSGLYNP IVFSASGANL TDAHLFCLLA CDRDLCCDGF
VLTQVQGGAI ICGLLSSPSV LLCNVKDWMD PSEAWANATC PGVTYDQESH QVILRLGDQE
FIKSLTPLEG TQDTFTNFQQ VYLWKDSDMG SRPESMGCRK DTVPRPASPT EAGLTTELFS
PVDLNQVIVN GNQSLSSQKH WLFKHLFSAQ QANLWCLSRC VQEHSFCQLA EITESASLYF
TCTLYPEAQV CDDIMESNAQ GCRLILPQMP KALFRKKVIL EDKVKNFYTR LPFQKLMGIS
IRNKVPMSEK SISNGFFECE RRCDADPCCT GFGFLNVSQL KGGEVTCLTL NSLGIQMCSE
ENGGAWRILD CGSPDIEVHT YPFGWYQKPI AQNNAPSFCP LVVLPSLTEK VSLDSWQSLA
LSSVVVDPSI RHFDVAHVST AATSNFSAVR DLCLSECSQH EACLITTLQT QPGAVRCMFY
ADTQSCTHSL QGQNCRLLLR EEATHIYRKP GISLLSYEAS VPSVPISTHG RLLGRSQAIQ
VGTSWKQVDQ FLGVPYAAPP LAERRFQAPE PLNWTGSWDA SKPRASCWQP GTRTSTSPGV
SEDCLYLNVF IPQNVAPNAS VLVFFHNTMD REESEGWPAI DGSFLAAVGN LIVVTASYRV
GVFGFLSSGS GEVSGNWGLL DQVAALTWVQ THIRGFGGDP RRVSLAADRG GADVASIHLL
TARATNSQLF RRAVLMGGSA LSPAAVISHE RAQQQAIALA KEVSCPMSSS QEVVSCLRQK
PANVLNDAQT KLLAVSGPFH YWGPVIDGHF LREPPARALK RSLWVEVDLL IGSSQDDGLI
NRAKAVKQFE ESRGRTSSKT AFYQALQNSL GGEDSDARVE AAATWYYSLE HSTDDYASFS
RALENATRDY FIICPIIDMA SAWAKRARGN VFMYHAPENY GHGSLELLAD VQFALGLPFY
PAYEGQFSLE EKSLSLKIMQ YFSHFIRSGN PNYPYEFSRK VPTFATPWPD FVPRAGGENY
KEFSELLPNR QGLKKADCSF WSKYISSLKT SADGAKGGQS AESEEEELTA GSGLREDLLS
LQEPGSKTYS K*
mutated AA sequence MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQAEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHL MQKFEKVPES KVIFDANAPV AVRSKVPDSE FPVMQCLTDC TEDEACSFFT
VSTTEPEISC DFYAWTSDNV ACMTSDQKRD ALGNSKATSF GSLRCQVKVR SHGQDSPAVY
LKKGQGSTTT LQKRFEPTGF QNMLSGLYNP IVFSASGANL TDAHLFCLLA CDRDLCCDGF
VLTQVQGGAI ICGLLSSPSV LLCNVKDWMD PSEAWANATC PGVTYDQESH QVILRLGDQE
FIKSLTPLEG TQDTFTNFQQ VYLWKDSDMG SRPESMGCRK DTVPRPASPT EAGLTTELFS
PVDLNQVIVN GNQSLSSQKH WLFKHLFSAQ QANLWCLSRC VQEHSFCQLA EITESASLYF
TCTLYPEAQV CDDIMESNAQ GCRLILPQMP KALFRKKVIL EDKVKNFYTR LPFQKLMGIS
IRNKVPMSEK SISNGFFECE RRCDADPCCT GFGFLNVSQL KGGEVTCLTL NSLGIQMCSE
ENGGAWRILD CGSPDIEVHT YPFGWYQKPI AQNNAPSFCP LVVLPSLTEK VSLDSWQSLA
LSSVVVDPSI RHFDVAHVST AATSNFSAVR DLCLSECSQH EACLITTLQT QPGAVRCMFY
ADTQSCTHSL QGQNCRLLLR EEATHIYRKP GISLLSYEAS VPSVPISTHG RLLGRSQAIQ
VGTSWKQVDQ FLGVPYAAPP LAERRFQAPE PLNWTGSWDA SKPRASCWQP GTRTSTSPGV
SEDCLYLNVF IPQNVAPNAS VLVFFHNTMD REESEGWPAI DGSFLAAVGN LIVVTASYRV
GVFGFLSSGS GEVSGNWGLL DQVAALTWVQ THIRGFGGDP RRVSLAADRG GADVASIHLL
TARATNSQLF RRAVLMGGSA LSPAAVISHE RAQQQAIALA KEVSCPMSSS QEVVSCLRQK
PANVLNDAQT KLLAVSGPFH YWGPVIDGHF LREPPARALK RSLWVEVDLL IGSSQDDGLI
NRAKAVKQFE ESRGRTSSKT AFYQALQNSL GGEDSDARVE AAATWYYSLE HSTDDYASFS
RALENATRDY FIICPIIDMA SAWAKRARGN VFMYHAPENY GHGSLELLAD VQFALGLPFY
PAYEGQFSLE EKSLSLKIMQ YFSHFIRSGN PNYPYEFSRK VPTFATPWPD FVPRAGGENY
KEFSELLPNR QGLKKADCSF WSKYISSLKT SADGAKGGQS AESEEEELTA GSGLREDLLS
LQEPGSKTYS K*
speed 0.89 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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