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: ENST00000337872
Querying Taster for transcript #2: ENST00000355834
Querying Taster for transcript #3: ENST00000538529
MT speed 4.12 s - this script 8.458464 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZBTB49polymorphism_automatic4.28985402756155e-09simple_aaeaffectedA348Tsingle base exchangers4689254show file
ZBTB49polymorphism_automatic4.28985402756155e-09simple_aaeaffectedA348Tsingle base exchangers4689254show file
ZBTB49polymorphism_automatic5.43164292698961e-06without_aaeaffectedsingle base exchangers4689254show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999995710146 (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) chr4:4304605G>AN/A show variant in all transcripts   IGV
HGNC symbol ZBTB49
Ensembl transcript ID ENST00000337872
Genbank transcript ID NM_145291
UniProt peptide Q6ZSB9
alteration type single base exchange
alteration region CDS
DNA changes c.1042G>A
cDNA.1163G>A
g.12682G>A
AA changes A348T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
348
frameshift no
known variant Reference ID: rs4689254
databasehomozygous (A/A)heterozygousallele carriers
1000G95565660
ExAC81764237240
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4040
0.0380
(flanking)1.1210.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased12677wt: 0.75 / mu: 1.00wt: CCTAGAGAAAGCTAG
mu: CCTAGAGAAAACTAG
 TAGA|gaaa
Donor increased12685wt: 0.20 / mu: 0.38wt: AAGCTAGCAGCCAAA
mu: AAACTAGCAGCCAAA
 GCTA|gcag
Donor gained126800.40mu: AGAGAAAACTAGCAG AGAA|aact
distance from splice site 214
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      348LESASKNTLEKASSQSAEEKESEE
mutated  not conserved    348LESASKNTLEKTSSQSAEEKESE
Ptroglodytes  all identical  ENSPTRG00000015868  348LESASKNTLEKASSQSAEEKESE
Mmulatta  all identical  ENSMMUG00000023394  349MESASENTLEKASSQSAEEKESE
Fcatus  all identical  ENSFCAG00000015510  349AGPAGADAREEAGGPSAEGRGG
Mmusculus  all identical  ENSMUSG00000029127  342EESAAKEDAVERAGSQTAEEKGRG
Ggallus  not conserved  ENSGALG00000015009  348NESANESTMGVTNVRVAEEKEA
Trubripes  not conserved  ENSTRUG00000014222  332EESVAQTEVSETP
Drerio  no alignment  ENSDARG00000089169  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016041  410PVYSEGKVLE-ASDRGY
protein features
start (aa)end (aa)featuredetails 
395417ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
423445ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
449449CONFLICTK -> E (in Ref. 1; BAC87035).might get lost (downstream of altered splice site)
451473ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
479501ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
506506CONFLICTV -> I (in Ref. 1; BAC87035).might get lost (downstream of altered splice site)
507529ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
535557ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
563585ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
652652MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2298 / 2298
position (AA) of stopcodon in wt / mu AA sequence 766 / 766
position of stopcodon in wt / mu cDNA 2419 / 2419
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 122 / 122
chromosome 4
strand 1
last intron/exon boundary 1743
theoretical NMD boundary in CDS 1571
length of CDS 2298
coding sequence (CDS) position 1042
cDNA position
(for ins/del: last normal base / first normal base)
1163
gDNA position
(for ins/del: last normal base / first normal base)
12682
chromosomal position
(for ins/del: last normal base / first normal base)
4304605
original gDNA sequence snippet GTAAAAATACCCTAGAGAAAGCTAGCAGCCAAAGTGCTGAA
altered gDNA sequence snippet GTAAAAATACCCTAGAGAAAACTAGCAGCCAAAGTGCTGAA
original cDNA sequence snippet GTAAAAATACCCTAGAGAAAGCTAGCAGCCAAAGTGCTGAA
altered cDNA sequence snippet GTAAAAATACCCTAGAGAAAACTAGCAGCCAAAGTGCTGAA
wildtype AA sequence MDPVATHSCH LLQQLHEQRI QGLLCDCMLV VKGVCFKAHK NVLAAFSQYF RSLFQNSSSQ
KNDVFHLDVK NVSGIGQILD FMYTSHLDLN QDNIQVMLDT AQCLQVQNVL SLCHTFLKSA
TVVQPPGMPC NSTLSLQSTL TPDATCVISE NYPPHLLQEC SADAQQNKTL DESHPHASPS
VNRHHSAGEI SKQAPDTSDG SCTELPFKQP NYYYKLRNFY SKQYHKHAAG PSQERVVEQP
FAFSTSTDLT TVESQPCAVS HSECILESPE HLPSNFLAQP VNDSAPHPES DATCQQPVKQ
MRLKKAIHLK KLNFLKSQKY AEQVSEPKSD DGLTKRLESA SKNTLEKASS QSAEEKESEE
VVSCENFNCI SETERPEDPA ALEDQSQTLQ SQRQYACELC GKPFKHPSNL ELHKRSHTGE
KPFECNICGK HFSQAGNLQT HLRRHSGEKP YICEICGKRF AASGDVQRHI IIHSGEKPHL
CDICGRGFSN FSNLKEHKKT HTADKVFTCD ECGKSFNMQR KLVKHRIRHT GERPYSCSAC
GKCFGGSGDL RRHVRTHTGE KPYTCEICNK CFTRSAVLRR HKKMHCKAGD ESPDVLEELS
QAIETSDLEK SQSSDSFSQD TSVTLMPVSV KLPVHPVENS VAEFDSHSGG SYCKLRSMIQ
PHGVSDQEKL SLDPGKLAKP QMQQTQPQAY AYSDVDTPAG GEPLQADGMA MIRSSLAALD
NHGGDPLGSR ASSTTYRNSE GQFFSSMTLW GLAMKTLQNE NELDQ*
mutated AA sequence MDPVATHSCH LLQQLHEQRI QGLLCDCMLV VKGVCFKAHK NVLAAFSQYF RSLFQNSSSQ
KNDVFHLDVK NVSGIGQILD FMYTSHLDLN QDNIQVMLDT AQCLQVQNVL SLCHTFLKSA
TVVQPPGMPC NSTLSLQSTL TPDATCVISE NYPPHLLQEC SADAQQNKTL DESHPHASPS
VNRHHSAGEI SKQAPDTSDG SCTELPFKQP NYYYKLRNFY SKQYHKHAAG PSQERVVEQP
FAFSTSTDLT TVESQPCAVS HSECILESPE HLPSNFLAQP VNDSAPHPES DATCQQPVKQ
MRLKKAIHLK KLNFLKSQKY AEQVSEPKSD DGLTKRLESA SKNTLEKTSS QSAEEKESEE
VVSCENFNCI SETERPEDPA ALEDQSQTLQ SQRQYACELC GKPFKHPSNL ELHKRSHTGE
KPFECNICGK HFSQAGNLQT HLRRHSGEKP YICEICGKRF AASGDVQRHI IIHSGEKPHL
CDICGRGFSN FSNLKEHKKT HTADKVFTCD ECGKSFNMQR KLVKHRIRHT GERPYSCSAC
GKCFGGSGDL RRHVRTHTGE KPYTCEICNK CFTRSAVLRR HKKMHCKAGD ESPDVLEELS
QAIETSDLEK SQSSDSFSQD TSVTLMPVSV KLPVHPVENS VAEFDSHSGG SYCKLRSMIQ
PHGVSDQEKL SLDPGKLAKP QMQQTQPQAY AYSDVDTPAG GEPLQADGMA MIRSSLAALD
NHGGDPLGSR ASSTTYRNSE GQFFSSMTLW GLAMKTLQNE NELDQ*
speed 1.54 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: 0.999999995710146 (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) chr4:4304605G>AN/A show variant in all transcripts   IGV
HGNC symbol ZBTB49
Ensembl transcript ID ENST00000355834
Genbank transcript ID N/A
UniProt peptide Q6ZSB9
alteration type single base exchange
alteration region CDS
DNA changes c.1042G>A
cDNA.1217G>A
g.12682G>A
AA changes A348T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
348
frameshift no
known variant Reference ID: rs4689254
databasehomozygous (A/A)heterozygousallele carriers
1000G95565660
ExAC81764237240
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4040
0.0380
(flanking)1.1210.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased12677wt: 0.75 / mu: 1.00wt: CCTAGAGAAAGCTAG
mu: CCTAGAGAAAACTAG
 TAGA|gaaa
Donor increased12685wt: 0.20 / mu: 0.38wt: AAGCTAGCAGCCAAA
mu: AAACTAGCAGCCAAA
 GCTA|gcag
Donor gained126800.40mu: AGAGAAAACTAGCAG AGAA|aact
distance from splice site 214
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      348LESASKNTLEKASSQSAEEKESEE
mutated  not conserved    348LESASKNTLEKTSSQSAEEKESE
Ptroglodytes  all identical  ENSPTRG00000015868  348LESASKNTLEKASSQSAEEKESE
Mmulatta  all identical  ENSMMUG00000023394  349MESASENTLEKASSQSAEEKESE
Fcatus  all identical  ENSFCAG00000015510  349AGPAGADAREEAGGPSAEGRGG
Mmusculus  all identical  ENSMUSG00000029127  342EESAAKEDAVERAGSQTAEEKGRG
Ggallus  not conserved  ENSGALG00000015009  348NESANESTMGVTNVRVAEEKEA
Trubripes  not conserved  ENSTRUG00000014222  332EESVAQTEVSETP
Drerio  no alignment  ENSDARG00000089169  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016041  410PVYSEGKVLE-ASDRGY
protein features
start (aa)end (aa)featuredetails 
395417ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
423445ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
449449CONFLICTK -> E (in Ref. 1; BAC87035).might get lost (downstream of altered splice site)
451473ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
479501ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
506506CONFLICTV -> I (in Ref. 1; BAC87035).might get lost (downstream of altered splice site)
507529ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
535557ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
563585ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
652652MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1932 / 1932
position (AA) of stopcodon in wt / mu AA sequence 644 / 644
position of stopcodon in wt / mu cDNA 2107 / 2107
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 176 / 176
chromosome 4
strand 1
last intron/exon boundary 1431
theoretical NMD boundary in CDS 1205
length of CDS 1932
coding sequence (CDS) position 1042
cDNA position
(for ins/del: last normal base / first normal base)
1217
gDNA position
(for ins/del: last normal base / first normal base)
12682
chromosomal position
(for ins/del: last normal base / first normal base)
4304605
original gDNA sequence snippet GTAAAAATACCCTAGAGAAAGCTAGCAGCCAAAGTGCTGAA
altered gDNA sequence snippet GTAAAAATACCCTAGAGAAAACTAGCAGCCAAAGTGCTGAA
original cDNA sequence snippet GTAAAAATACCCTAGAGAAAGCTAGCAGCCAAAGTGCTGAA
altered cDNA sequence snippet GTAAAAATACCCTAGAGAAAACTAGCAGCCAAAGTGCTGAA
wildtype AA sequence MDPVATHSCH LLQQLHEQRI QGLLCDCMLV VKGVCFKAHK NVLAAFSQYF RSLFQNSSSQ
KNDVFHLDVK NVSGIGQILD FMYTSHLDLN QDNIQVMLDT AQCLQVQNVL SLCHTFLKSA
TVVQPPGMPC NSTLSLQSTL TPDATCVISE NYPPHLLQEC SADAQQNKTL DESHPHASPS
VNRHHSAGEI SKQAPDTSDG SCTELPFKQP NYYYKLRNFY SKQYHKHAAG PSQERVVEQP
FAFSTSTDLT TVESQPCAVS HSECILESPE HLPSNFLAQP VNDSAPHPES DATCQQPVKQ
MRLKKAIHLK KLNFLKSQKY AEQVSEPKSD DGLTKRLESA SKNTLEKASS QSAEEKESEE
VVSCENFNCI SETERPEDPA ALEDQSQTLQ SQRQYACELC GKPFKHPSNL ELHKRSHTGK
CFGGSGDLRR HVRTHTGEKP YTCEICNKCF TRSAVLRRHK KMHCKAGDES PDVLEELSQA
IETSDLEKSQ SSDSFSQDTS VTLMPVSVKL PVHPVENSVA EFDSHSGGSY CKLRSMIQPH
GVSDQEKLSL DPGKLAKPQM QQTQPQAYAY SDVDTPAGGE PLQADGMAMI RSSLAALDNH
GGDPLGSRAS STTYRNSEGQ FFSSMTLWGL AMKTLQNENE LDQ*
mutated AA sequence MDPVATHSCH LLQQLHEQRI QGLLCDCMLV VKGVCFKAHK NVLAAFSQYF RSLFQNSSSQ
KNDVFHLDVK NVSGIGQILD FMYTSHLDLN QDNIQVMLDT AQCLQVQNVL SLCHTFLKSA
TVVQPPGMPC NSTLSLQSTL TPDATCVISE NYPPHLLQEC SADAQQNKTL DESHPHASPS
VNRHHSAGEI SKQAPDTSDG SCTELPFKQP NYYYKLRNFY SKQYHKHAAG PSQERVVEQP
FAFSTSTDLT TVESQPCAVS HSECILESPE HLPSNFLAQP VNDSAPHPES DATCQQPVKQ
MRLKKAIHLK KLNFLKSQKY AEQVSEPKSD DGLTKRLESA SKNTLEKTSS QSAEEKESEE
VVSCENFNCI SETERPEDPA ALEDQSQTLQ SQRQYACELC GKPFKHPSNL ELHKRSHTGK
CFGGSGDLRR HVRTHTGEKP YTCEICNKCF TRSAVLRRHK KMHCKAGDES PDVLEELSQA
IETSDLEKSQ SSDSFSQDTS VTLMPVSVKL PVHPVENSVA EFDSHSGGSY CKLRSMIQPH
GVSDQEKLSL DPGKLAKPQM QQTQPQAYAY SDVDTPAGGE PLQADGMAMI RSSLAALDNH
GGDPLGSRAS STTYRNSEGQ FFSSMTLWGL AMKTLQNENE LDQ*
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
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999994568357073 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr4:4304605G>AN/A show variant in all transcripts   IGV
HGNC symbol ZBTB49
Ensembl transcript ID ENST00000538529
Genbank transcript ID N/A
UniProt peptide Q6ZSB9
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.1163G>A
g.12682G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs4689254
databasehomozygous (A/A)heterozygousallele carriers
1000G95565660
ExAC81764237240
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4040
0.0380
(flanking)1.1210.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -131) | splice site change before start ATG (at aa -130) | splice site change before start ATG (at aa -128) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased12677wt: 0.75 / mu: 1.00wt: CCTAGAGAAAGCTAG
mu: CCTAGAGAAAACTAG
 TAGA|gaaa
Donor increased12685wt: 0.20 / mu: 0.38wt: AAGCTAGCAGCCAAA
mu: AAACTAGCAGCCAAA
 GCTA|gcag
Donor gained126800.40mu: AGAGAAAACTAGCAG AGAA|aact
distance from splice site 214
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
2591DOMAINBTB.might get lost (downstream of altered splice site)
395417ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
423445ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
449449CONFLICTK -> E (in Ref. 1; BAC87035).might get lost (downstream of altered splice site)
451473ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
479501ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
506506CONFLICTV -> I (in Ref. 1; BAC87035).might get lost (downstream of altered splice site)
507529ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
535557ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
563585ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
652652MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 1552 / 1552
chromosome 4
strand 1
last intron/exon boundary 1622
theoretical NMD boundary in CDS 20
length of CDS 747
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)
1163
gDNA position
(for ins/del: last normal base / first normal base)
12682
chromosomal position
(for ins/del: last normal base / first normal base)
4304605
original gDNA sequence snippet GTAAAAATACCCTAGAGAAAGCTAGCAGCCAAAGTGCTGAA
altered gDNA sequence snippet GTAAAAATACCCTAGAGAAAACTAGCAGCCAAAGTGCTGAA
original cDNA sequence snippet GTAAAAATACCCTAGAGAAAGCTAGCAGCCAAAGTGCTGAA
altered cDNA sequence snippet GTAAAAATACCCTAGAGAAAACTAGCAGCCAAAGTGCTGAA
wildtype AA sequence MQRKLVKHRI RHTGERPYSC SACGKCFGGS GDLRRHVRTH TGEKPYTCEI CNKCFTRSAV
LRRHKKMHCK AGDESPDVLE ELSQAIETSD LEKSQSSDSF SQDTSVTLMP VSVKLPVHPV
ENSVAEFDSH SGGSYCKLRS MIQPHGVSDQ EKLSLDPGKL AKPQMQQTQP QAYAYSDVDT
PAGGEPLQAD GMAMIRSSLA ALDNHGGDPL GSRASSTTYR NSEGQFFSSM TLWGLAMKTL
QNENELDQ*
mutated AA sequence N/A
speed 1.10 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