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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000449623
Querying Taster for transcript #2: ENST00000437407
Querying Taster for transcript #3: ENST00000406870
Querying Taster for transcript #4: ENST00000232014
Querying Taster for transcript #5: ENST00000450123
MT speed 3.87 s - this script 4.398748 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BCL6polymorphism_automatic5.55962098580665e-09simple_aaeaffectedA493Tsingle base exchangers2229362show file
BCL6polymorphism_automatic5.55962098580665e-09simple_aaeaffectedA493Tsingle base exchangers2229362show file
BCL6polymorphism_automatic1.13045978022974e-07simple_aaeaffectedA493Tsingle base exchangers2229362show file
LOC100131635polymorphism_automatic0.127326520856764without_aaeaffectedsingle base exchangers2229362show file
LOC100131635polymorphism_automatic0.127326520856764without_aaeaffectedsingle base exchangers2229362show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999994440379 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:187446211C>TN/A show variant in all transcripts   IGV
HGNC symbol BCL6
Ensembl transcript ID ENST00000406870
Genbank transcript ID NM_001130845
UniProt peptide P41182
alteration type single base exchange
alteration region CDS
DNA changes c.1477G>A
cDNA.1844G>A
g.17305G>A
AA changes A493T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 493
frameshift no
known variant Reference ID: rs2229362
databasehomozygous (T/T)heterozygousallele carriers
1000G145637782
ExAC16851375015435
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7740.08
-0.0720.002
(flanking)-1.6330
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased17308wt: 0.70 / mu: 0.80wt: AGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAGGAG
mu: AGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAGGAG		 gctg|GCCC
Donor increased17310wt: 0.83 / mu: 0.93wt: GCTGGCCCCACGTTC
mu: ACTGGCCCCACGTTC		 TGGC|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      493SPQHAEMCLHTAGPTFPEEMGETQ
mutated  not conserved    493SPQHAEMCLHTTGPTFPEEMGET
Ptroglodytes  all identical  ENSPTRG00000015728  493SPQHAEMCLHTAGPTFPEEMGET
Mmulatta  all identical  ENSMMUG00000009198  493SPQHAEMCLHTAGPTFPEEMGET
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022508  494SPQHTEMCLHTAGPTFPEEMGET
Ggallus  all conserved  ENSGALG00000007357  495SPQHTEMCLHTSGSAFGEEMGET
Trubripes  all conserved  ENSTRUG00000002214  494SSHHSEVCPKTSRSHLAEEMTEL
Drerio  all conserved  ENSDARG00000070864  505SPQHSDVCPNTSASRLAEEMSEM
Dmelanogaster  no alignment  FBgn0011236  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000019779  490PP--ELCPHTPGSNFGEEITET
protein features
start (aa)end (aa)featuredetails 
498498CONFLICTP -> A (in Ref. 2; AAC50054).might get lost (downstream of altered splice site)
518541ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
521523STRANDmight get lost (downstream of altered splice site)
527529STRANDmight get lost (downstream of altered splice site)
530540HELIXmight get lost (downstream of altered splice site)
546568ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
558568HELIXmight get lost (downstream of altered splice site)
573575STRANDmight get lost (downstream of altered splice site)
574596ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
577579TURNmight get lost (downstream of altered splice site)
582584STRANDmight get lost (downstream of altered splice site)
586596HELIXmight get lost (downstream of altered splice site)
601603STRANDmight get lost (downstream of altered splice site)
602624ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
605607TURNmight get lost (downstream of altered splice site)
610613STRANDmight get lost (downstream of altered splice site)
614620HELIXmight get lost (downstream of altered splice site)
622625HELIXmight get lost (downstream of altered splice site)
630652ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
633635STRANDmight get lost (downstream of altered splice site)
639641STRANDmight get lost (downstream of altered splice site)
642648HELIXmight get lost (downstream of altered splice site)
649652TURNmight get lost (downstream of altered splice site)
658681ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2121 / 2121
position (AA) of stopcodon in wt / mu AA sequence 707 / 707
position of stopcodon in wt / mu cDNA 2488 / 2488
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 368 / 368
chromosome 3
strand -1
last intron/exon boundary 2345
theoretical NMD boundary in CDS 1927
length of CDS 2121
coding sequence (CDS) position 1477
cDNA position
(for ins/del: last normal base / first normal base)		 1844
gDNA position
(for ins/del: last normal base / first normal base)		 17305
chromosomal position
(for ins/del: last normal base / first normal base)		 187446211
original gDNA sequence snippet CAGAGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAG
altered gDNA sequence snippet CAGAGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAG
original cDNA sequence snippet CAGAGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAG
altered cDNA sequence snippet CAGAGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAG
wildtype AA sequence MASPADSCIQ FTRHASDVLL NLNRLRSRDI LTDVVIVVSR EQFRAHKTVL MACSGLFYSI
FTDQLKCNLS VINLDPEINP EGFCILLDFM YTSRLNLREG NIMAVMATAM YLQMEHVVDT
CRKFIKASEA EMVSAIKPPR EEFLNSRMLM PQDIMAYRGR EVVENNLPLR SAPGCESRAF
APSLYSGLST PPASYSMYSH LPVSSLLFSD EEFRDVRMPV ANPFPKERAL PCDSARPVPG
EYSRPTLEVS PNVCHSNIYS PKETIPEEAR SDMHYSVAEG LKPAAPSARN APYFPCDKAS
KEEERPSSED EIALHFEPPN APLNRKGLVS PQSPQKSDCQ PNSPTESCSS KNACILQASG
SPPAKSPTDP KACNWKKYKF IVLNSLNQNA KPEGPEQAEL GRLSPRAYTA PPACQPPMEP
ENLDLQSPTK LSASGEDSTI PQASRLNNIV NRSMTGSPRS SSESHSPLYM HPPKCTSCGS
QSPQHAEMCL HTAGPTFPEE MGETQSEYSD SSCENGAFFC NECDCRFSEE ASLKRHTLQT
HSDKPYKCDR CQASFRYKGN LASHKTVHTG EKPYRCNICG AQFNRPANLK THTRIHSGEK
PYKCETCGAR FVQVAHLRAH VLIHTGEKPY PCEICGTRFR HLQTLKSHLR IHTGEKPYHC
EKCNLHFRHK SQLRLHLRQK HGAITNTKVQ YRVSATDLPP ELPKAC*
mutated AA sequence MASPADSCIQ FTRHASDVLL NLNRLRSRDI LTDVVIVVSR EQFRAHKTVL MACSGLFYSI
FTDQLKCNLS VINLDPEINP EGFCILLDFM YTSRLNLREG NIMAVMATAM YLQMEHVVDT
CRKFIKASEA EMVSAIKPPR EEFLNSRMLM PQDIMAYRGR EVVENNLPLR SAPGCESRAF
APSLYSGLST PPASYSMYSH LPVSSLLFSD EEFRDVRMPV ANPFPKERAL PCDSARPVPG
EYSRPTLEVS PNVCHSNIYS PKETIPEEAR SDMHYSVAEG LKPAAPSARN APYFPCDKAS
KEEERPSSED EIALHFEPPN APLNRKGLVS PQSPQKSDCQ PNSPTESCSS KNACILQASG
SPPAKSPTDP KACNWKKYKF IVLNSLNQNA KPEGPEQAEL GRLSPRAYTA PPACQPPMEP
ENLDLQSPTK LSASGEDSTI PQASRLNNIV NRSMTGSPRS SSESHSPLYM HPPKCTSCGS
QSPQHAEMCL HTTGPTFPEE MGETQSEYSD SSCENGAFFC NECDCRFSEE ASLKRHTLQT
HSDKPYKCDR CQASFRYKGN LASHKTVHTG EKPYRCNICG AQFNRPANLK THTRIHSGEK
PYKCETCGAR FVQVAHLRAH VLIHTGEKPY PCEICGTRFR HLQTLKSHLR IHTGEKPYHC
EKCNLHFRHK SQLRLHLRQK HGAITNTKVQ YRVSATDLPP ELPKAC*
speed 0.81 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: 0.999999994440379 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:187446211C>TN/A show variant in all transcripts   IGV
HGNC symbol BCL6
Ensembl transcript ID ENST00000232014
Genbank transcript ID N/A
UniProt peptide P41182
alteration type single base exchange
alteration region CDS
DNA changes c.1477G>A
cDNA.2006G>A
g.17305G>A
AA changes A493T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 493
frameshift no
known variant Reference ID: rs2229362
databasehomozygous (T/T)heterozygousallele carriers
1000G145637782
ExAC16851375015435
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7740.08
-0.0720.002
(flanking)-1.6330
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased17308wt: 0.70 / mu: 0.80wt: AGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAGGAG
mu: AGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAGGAG		 gctg|GCCC
Donor increased17310wt: 0.83 / mu: 0.93wt: GCTGGCCCCACGTTC
mu: ACTGGCCCCACGTTC		 TGGC|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      493SPQHAEMCLHTAGPTFPEEMGETQ
mutated  not conserved    493SPQHAEMCLHTTGPTFPEEMGET
Ptroglodytes  all identical  ENSPTRG00000015728  493SPQHAEMCLHTAGPTFPEEMGET
Mmulatta  all identical  ENSMMUG00000009198  493SPQHAEMCLHTAGPTFPEEMGET
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022508  494SPQHTEMCLHTAGPTFPEEMGET
Ggallus  all conserved  ENSGALG00000007357  495SPQHTEMCLHTSGSAFGEEMGET
Trubripes  all conserved  ENSTRUG00000002214  494SSHHSEVCPKTSRSHLAEEMTEL
Drerio  all conserved  ENSDARG00000070864  505SPQHSDVCPNTSASRLAEEMSEM
Dmelanogaster  no alignment  FBgn0011236  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000019779  490PP--ELCPHTPGSNFGEEITET
protein features
start (aa)end (aa)featuredetails 
498498CONFLICTP -> A (in Ref. 2; AAC50054).might get lost (downstream of altered splice site)
518541ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
521523STRANDmight get lost (downstream of altered splice site)
527529STRANDmight get lost (downstream of altered splice site)
530540HELIXmight get lost (downstream of altered splice site)
546568ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
558568HELIXmight get lost (downstream of altered splice site)
573575STRANDmight get lost (downstream of altered splice site)
574596ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
577579TURNmight get lost (downstream of altered splice site)
582584STRANDmight get lost (downstream of altered splice site)
586596HELIXmight get lost (downstream of altered splice site)
601603STRANDmight get lost (downstream of altered splice site)
602624ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
605607TURNmight get lost (downstream of altered splice site)
610613STRANDmight get lost (downstream of altered splice site)
614620HELIXmight get lost (downstream of altered splice site)
622625HELIXmight get lost (downstream of altered splice site)
630652ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
633635STRANDmight get lost (downstream of altered splice site)
639641STRANDmight get lost (downstream of altered splice site)
642648HELIXmight get lost (downstream of altered splice site)
649652TURNmight get lost (downstream of altered splice site)
658681ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2121 / 2121
position (AA) of stopcodon in wt / mu AA sequence 707 / 707
position of stopcodon in wt / mu cDNA 2650 / 2650
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 530 / 530
chromosome 3
strand -1
last intron/exon boundary 2507
theoretical NMD boundary in CDS 1927
length of CDS 2121
coding sequence (CDS) position 1477
cDNA position
(for ins/del: last normal base / first normal base)		 2006
gDNA position
(for ins/del: last normal base / first normal base)		 17305
chromosomal position
(for ins/del: last normal base / first normal base)		 187446211
original gDNA sequence snippet CAGAGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAG
altered gDNA sequence snippet CAGAGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAG
original cDNA sequence snippet CAGAGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAG
altered cDNA sequence snippet CAGAGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAG
wildtype AA sequence MASPADSCIQ FTRHASDVLL NLNRLRSRDI LTDVVIVVSR EQFRAHKTVL MACSGLFYSI
FTDQLKCNLS VINLDPEINP EGFCILLDFM YTSRLNLREG NIMAVMATAM YLQMEHVVDT
CRKFIKASEA EMVSAIKPPR EEFLNSRMLM PQDIMAYRGR EVVENNLPLR SAPGCESRAF
APSLYSGLST PPASYSMYSH LPVSSLLFSD EEFRDVRMPV ANPFPKERAL PCDSARPVPG
EYSRPTLEVS PNVCHSNIYS PKETIPEEAR SDMHYSVAEG LKPAAPSARN APYFPCDKAS
KEEERPSSED EIALHFEPPN APLNRKGLVS PQSPQKSDCQ PNSPTESCSS KNACILQASG
SPPAKSPTDP KACNWKKYKF IVLNSLNQNA KPEGPEQAEL GRLSPRAYTA PPACQPPMEP
ENLDLQSPTK LSASGEDSTI PQASRLNNIV NRSMTGSPRS SSESHSPLYM HPPKCTSCGS
QSPQHAEMCL HTAGPTFPEE MGETQSEYSD SSCENGAFFC NECDCRFSEE ASLKRHTLQT
HSDKPYKCDR CQASFRYKGN LASHKTVHTG EKPYRCNICG AQFNRPANLK THTRIHSGEK
PYKCETCGAR FVQVAHLRAH VLIHTGEKPY PCEICGTRFR HLQTLKSHLR IHTGEKPYHC
EKCNLHFRHK SQLRLHLRQK HGAITNTKVQ YRVSATDLPP ELPKAC*
mutated AA sequence MASPADSCIQ FTRHASDVLL NLNRLRSRDI LTDVVIVVSR EQFRAHKTVL MACSGLFYSI
FTDQLKCNLS VINLDPEINP EGFCILLDFM YTSRLNLREG NIMAVMATAM YLQMEHVVDT
CRKFIKASEA EMVSAIKPPR EEFLNSRMLM PQDIMAYRGR EVVENNLPLR SAPGCESRAF
APSLYSGLST PPASYSMYSH LPVSSLLFSD EEFRDVRMPV ANPFPKERAL PCDSARPVPG
EYSRPTLEVS PNVCHSNIYS PKETIPEEAR SDMHYSVAEG LKPAAPSARN APYFPCDKAS
KEEERPSSED EIALHFEPPN APLNRKGLVS PQSPQKSDCQ PNSPTESCSS KNACILQASG
SPPAKSPTDP KACNWKKYKF IVLNSLNQNA KPEGPEQAEL GRLSPRAYTA PPACQPPMEP
ENLDLQSPTK LSASGEDSTI PQASRLNNIV NRSMTGSPRS SSESHSPLYM HPPKCTSCGS
QSPQHAEMCL HTTGPTFPEE MGETQSEYSD SSCENGAFFC NECDCRFSEE ASLKRHTLQT
HSDKPYKCDR CQASFRYKGN LASHKTVHTG EKPYRCNICG AQFNRPANLK THTRIHSGEK
PYKCETCGAR FVQVAHLRAH VLIHTGEKPY PCEICGTRFR HLQTLKSHLR IHTGEKPYHC
EKCNLHFRHK SQLRLHLRQK HGAITNTKVQ YRVSATDLPP ELPKAC*
speed 0.81 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: 0.999999886954022 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:187446211C>TN/A show variant in all transcripts   IGV
HGNC symbol BCL6
Ensembl transcript ID ENST00000450123
Genbank transcript ID NM_001134738
UniProt peptide P41182
alteration type single base exchange
alteration region CDS
DNA changes c.1477G>A
cDNA.1501G>A
g.17305G>A
AA changes A493T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 493
frameshift no
known variant Reference ID: rs2229362
databasehomozygous (T/T)heterozygousallele carriers
1000G145637782
ExAC16851375015435
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7740.08
-0.0720.002
(flanking)-1.6330
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased17308wt: 0.70 / mu: 0.80wt: AGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAGGAG
mu: AGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAGGAG		 gctg|GCCC
Donor increased17310wt: 0.83 / mu: 0.93wt: GCTGGCCCCACGTTC
mu: ACTGGCCCCACGTTC		 TGGC|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      493SPQHAEMCLHTAGPTFPEEMGETQ
mutated  not conserved    493SPQHAEMCLHTTGPTFPEEMGET
Ptroglodytes  all identical  ENSPTRG00000015728  493SPQHAEMCLHTAGPTFPEEMGET
Mmulatta  all identical  ENSMMUG00000009198  493SPQHAEMCLHTAGPTFPEEMGET
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022508  494SPQHTEMCLHTAGPTFPEEMGET
Ggallus  all conserved  ENSGALG00000007357  495SPQHTEMCLHTSGSAFGEEMGET
Trubripes  all conserved  ENSTRUG00000002214  494SSHHSEVCPKTSRSHLAEEMTEL
Drerio  all conserved  ENSDARG00000070864  505SPQHSDVCPNTSASRLAEEMSEM
Dmelanogaster  all identical  FBgn0011236  493SGSGANL----AG----------
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000019779  490P--PELCPHTPGSNFGEEITET
protein features
start (aa)end (aa)featuredetails 
498498CONFLICTP -> A (in Ref. 2; AAC50054).might get lost (downstream of altered splice site)
518541ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
521523STRANDmight get lost (downstream of altered splice site)
527529STRANDmight get lost (downstream of altered splice site)
530540HELIXmight get lost (downstream of altered splice site)
546568ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
558568HELIXmight get lost (downstream of altered splice site)
573575STRANDmight get lost (downstream of altered splice site)
574596ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
577579TURNmight get lost (downstream of altered splice site)
582584STRANDmight get lost (downstream of altered splice site)
586596HELIXmight get lost (downstream of altered splice site)
601603STRANDmight get lost (downstream of altered splice site)
602624ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
605607TURNmight get lost (downstream of altered splice site)
610613STRANDmight get lost (downstream of altered splice site)
614620HELIXmight get lost (downstream of altered splice site)
622625HELIXmight get lost (downstream of altered splice site)
630652ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
633635STRANDmight get lost (downstream of altered splice site)
639641STRANDmight get lost (downstream of altered splice site)
642648HELIXmight get lost (downstream of altered splice site)
649652TURNmight get lost (downstream of altered splice site)
658681ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1953 / 1953
position (AA) of stopcodon in wt / mu AA sequence 651 / 651
position of stopcodon in wt / mu cDNA 1977 / 1977
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 25 / 25
chromosome 3
strand -1
last intron/exon boundary 1834
theoretical NMD boundary in CDS 1759
length of CDS 1953
coding sequence (CDS) position 1477
cDNA position
(for ins/del: last normal base / first normal base)		 1501
gDNA position
(for ins/del: last normal base / first normal base)		 17305
chromosomal position
(for ins/del: last normal base / first normal base)		 187446211
original gDNA sequence snippet CAGAGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAG
altered gDNA sequence snippet CAGAGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAG
original cDNA sequence snippet CAGAGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAG
altered cDNA sequence snippet CAGAGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAG
wildtype AA sequence MASPADSCIQ FTRHASDVLL NLNRLRSRDI LTDVVIVVSR EQFRAHKTVL MACSGLFYSI
FTDQLKCNLS VINLDPEINP EGFCILLDFM YTSRLNLREG NIMAVMATAM YLQMEHVVDT
CRKFIKASEA EMVSAIKPPR EEFLNSRMLM PQDIMAYRGR EVVENNLPLR SAPGCESRAF
APSLYSGLST PPASYSMYSH LPVSSLLFSD EEFRDVRMPV ANPFPKERAL PCDSARPVPG
EYSRPTLEVS PNVCHSNIYS PKETIPEEAR SDMHYSVAEG LKPAAPSARN APYFPCDKAS
KEEERPSSED EIALHFEPPN APLNRKGLVS PQSPQKSDCQ PNSPTESCSS KNACILQASG
SPPAKSPTDP KACNWKKYKF IVLNSLNQNA KPEGPEQAEL GRLSPRAYTA PPACQPPMEP
ENLDLQSPTK LSASGEDSTI PQASRLNNIV NRSMTGSPRS SSESHSPLYM HPPKCTSCGS
QSPQHAEMCL HTAGPTFPEE MGETQSEYSD SSCGEKPYRC NICGAQFNRP ANLKTHTRIH
SGEKPYKCET CGARFVQVAH LRAHVLIHTG EKPYPCEICG TRFRHLQTLK SHLRIHTGEK
PYHCEKCNLH FRHKSQLRLH LRQKHGAITN TKVQYRVSAT DLPPELPKAC *
mutated AA sequence MASPADSCIQ FTRHASDVLL NLNRLRSRDI LTDVVIVVSR EQFRAHKTVL MACSGLFYSI
FTDQLKCNLS VINLDPEINP EGFCILLDFM YTSRLNLREG NIMAVMATAM YLQMEHVVDT
CRKFIKASEA EMVSAIKPPR EEFLNSRMLM PQDIMAYRGR EVVENNLPLR SAPGCESRAF
APSLYSGLST PPASYSMYSH LPVSSLLFSD EEFRDVRMPV ANPFPKERAL PCDSARPVPG
EYSRPTLEVS PNVCHSNIYS PKETIPEEAR SDMHYSVAEG LKPAAPSARN APYFPCDKAS
KEEERPSSED EIALHFEPPN APLNRKGLVS PQSPQKSDCQ PNSPTESCSS KNACILQASG
SPPAKSPTDP KACNWKKYKF IVLNSLNQNA KPEGPEQAEL GRLSPRAYTA PPACQPPMEP
ENLDLQSPTK LSASGEDSTI PQASRLNNIV NRSMTGSPRS SSESHSPLYM HPPKCTSCGS
QSPQHAEMCL HTTGPTFPEE MGETQSEYSD SSCGEKPYRC NICGAQFNRP ANLKTHTRIH
SGEKPYKCET CGARFVQVAH LRAHVLIHTG EKPYPCEICG TRFRHLQTLK SHLRIHTGEK
PYHCEKCNLH FRHKSQLRLH LRQKHGAITN TKVQYRVSAT DLPPELPKAC *
speed 0.67 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: 0.872673479143236 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:187446211C>TN/A show variant in all transcripts   IGV
HGNC symbol LOC100131635
Ensembl transcript ID ENST00000449623
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.26111C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2229362
databasehomozygous (T/T)heterozygousallele carriers
1000G145637782
ExAC16851375015435
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7740.08
-0.0720.002
(flanking)-1.6330
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 increased26114wt: 0.8309 / mu: 0.8483 (marginal change - not scored)wt: AGCGGTGTGGAGGCA
mu: AGTGGTGTGGAGGCA		 CGGT|gtgg
Donor gained261040.37mu: ACGTGGGGCCAGTGG GTGG|ggcc
distance from splice site 5101
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 218 / 218
chromosome 3
strand 1
last intron/exon boundary 347
theoretical NMD boundary in CDS 79
length of CDS 390
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 26111
chromosomal position
(for ins/del: last normal base / first normal base)		 187446211
original gDNA sequence snippet CTCAGGGAACGTGGGGCCAGCGGTGTGGAGGCACATCTCTG
altered gDNA sequence snippet CTCAGGGAACGTGGGGCCAGTGGTGTGGAGGCACATCTCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MCYELDSIRI LTTGSKSESS GEQEAECLKS SYGTELLDET ISGIPHLQAM RTVLWALNCS
RLTTMTTSVK MSRLRRRLRL RRTSLAWRVN WIQLSAGEAI LSSLEKRGQN PVSPPEPVSC
LPQVSEQVA*
mutated AA sequence N/A
speed 0.74 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: 0.872673479143236 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:187446211C>TN/A show variant in all transcripts   IGV
HGNC symbol LOC100131635
Ensembl transcript ID ENST00000437407
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.26111C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2229362
databasehomozygous (T/T)heterozygousallele carriers
1000G145637782
ExAC16851375015435
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7740.08
-0.0720.002
(flanking)-1.6330
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 increased26114wt: 0.8309 / mu: 0.8483 (marginal change - not scored)wt: AGCGGTGTGGAGGCA
mu: AGTGGTGTGGAGGCA		 CGGT|gtgg
Donor gained261040.37mu: ACGTGGGGCCAGTGG GTGG|ggcc
distance from splice site 3948
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 165 / 165
chromosome 3
strand 1
last intron/exon boundary 294
theoretical NMD boundary in CDS 79
length of CDS 153
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 26111
chromosomal position
(for ins/del: last normal base / first normal base)		 187446211
original gDNA sequence snippet CTCAGGGAACGTGGGGCCAGCGGTGTGGAGGCACATCTCTG
altered gDNA sequence snippet CTCAGGGAACGTGGGGCCAGTGGTGTGGAGGCACATCTCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MCYELDSIRI LTTGSKSESS GEQEAECLKS SYGTELLDET ISGNLAMNDK *
mutated AA sequence N/A
speed 0.84 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