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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000563385
Querying Taster for transcript #2: ENST00000529410
Querying Taster for transcript #3: ENST00000533560
Querying Taster for transcript #4: ENST00000368139
Querying Taster for transcript #5: ENST00000526019
Querying Taster for transcript #6: ENST00000368136
Querying Taster for transcript #7: ENST00000361794
MT speed 5.82 s - this script 5.342594 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
L3MBTL3polymorphism_automatic1.19081410989708e-05simple_aaeaffectedT183Nsingle base exchangers9388768show file
L3MBTL3polymorphism_automatic1.19081410989708e-05simple_aaeaffectedT158Nsingle base exchangers9388768show file
L3MBTL3polymorphism_automatic1.19081410989708e-05simple_aaeaffectedT158Nsingle base exchangers9388768show file
L3MBTL3polymorphism_automatic1.19081410989708e-05simple_aaeaffectedT158Nsingle base exchangers9388768show file
L3MBTL3polymorphism_automatic1.19081410989708e-05simple_aaeaffectedT183Nsingle base exchangers9388768show file
L3MBTL3polymorphism_automatic1.19081410989708e-05simple_aaeaffectedT183Nsingle base exchangers9388768show file
some transcripts had annotation problems and are not shown

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999988091858901 (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) chr6:130374102C>AN/A show variant in all transcripts   IGV
HGNC symbol L3MBTL3
Ensembl transcript ID ENST00000529410
Genbank transcript ID NM_032438
UniProt peptide Q96JM7
alteration type single base exchange
alteration region CDS
DNA changes c.548C>A
cDNA.1027C>A
g.39259C>A
AA changes T183N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 183
frameshift no
known variant Reference ID: rs9388768
databasehomozygous (A/A)heterozygousallele carriers
1000G7779701747
ExAC25084-174017683
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9730.042
2.0590.939
(flanking)0.7750.977
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased39251wt: 0.35 / mu: 0.39wt: CTGAAAGCTGACACC
mu: CTGAAAGCTGACAAC		 GAAA|gctg
Donor increased39262wt: 0.24 / mu: 0.29wt: CACCAAGGAGGATGG
mu: CAACAAGGAGGATGG		 CCAA|ggag
Donor increased39254wt: 0.34 / mu: 0.84wt: AAAGCTGACACCAAG
mu: AAAGCTGACAACAAG		 AGCT|gaca
Donor increased39261wt: 0.50 / mu: 0.61wt: ACACCAAGGAGGATG
mu: ACAACAAGGAGGATG		 ACCA|agga
Donor gained392630.31mu: AACAAGGAGGATGGA CAAG|gagg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      183KKKPKLSLKADTKEDGEERDDEME
mutated  not conserved    183ADNKEDGEERDDEM
Ptroglodytes  not conserved  ENSPTRG00000023858  94KKKPKLSLKADPKEDGEERDDEM
Mmulatta  not conserved  ENSMMUG00000021498  183VDPKEDGEERDDEM
Fcatus  all conserved  ENSFCAG00000001466  183KKKPKLSLKADSKEDGEDRDDEM
Mmusculus  all conserved  ENSMUSG00000039089  183ADSKDDGEERDDEM
Ggallus  all conserved  ENSGALG00000014009  186PLKEESRDNEEKKENPDET
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000025983  114RKRTRLERSAEDMDSSMDIPEEEDEDY
Dmelanogaster  all identical  FBgn0002441  782LEQTAGTAPDLPQK--RQ
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
232332REPEATMBT 1.might get lost (downstream of altered splice site)
234241HELIXmight get lost (downstream of altered splice site)
248250HELIXmight get lost (downstream of altered splice site)
253255TURNmight get lost (downstream of altered splice site)
269274STRANDmight get lost (downstream of altered splice site)
277290STRANDmight get lost (downstream of altered splice site)
293298STRANDmight get lost (downstream of altered splice site)
303305HELIXmight get lost (downstream of altered splice site)
307310STRANDmight get lost (downstream of altered splice site)
314317STRANDmight get lost (downstream of altered splice site)
321325HELIXmight get lost (downstream of altered splice site)
337339TURNmight get lost (downstream of altered splice site)
340439REPEATMBT 2.might get lost (downstream of altered splice site)
342348HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
360363TURNmight get lost (downstream of altered splice site)
376381STRANDmight get lost (downstream of altered splice site)
384397STRANDmight get lost (downstream of altered splice site)
400405STRANDmight get lost (downstream of altered splice site)
410412HELIXmight get lost (downstream of altered splice site)
414416STRANDmight get lost (downstream of altered splice site)
428431HELIXmight get lost (downstream of altered splice site)
448543REPEATMBT 3.might get lost (downstream of altered splice site)
450456HELIXmight get lost (downstream of altered splice site)
464466HELIXmight get lost (downstream of altered splice site)
472474STRANDmight get lost (downstream of altered splice site)
480484STRANDmight get lost (downstream of altered splice site)
486488STRANDmight get lost (downstream of altered splice site)
492500STRANDmight get lost (downstream of altered splice site)
502509STRANDmight get lost (downstream of altered splice site)
510512STRANDmight get lost (downstream of altered splice site)
514516HELIXmight get lost (downstream of altered splice site)
518521STRANDmight get lost (downstream of altered splice site)
532536HELIXmight get lost (downstream of altered splice site)
546549TURNmight get lost (downstream of altered splice site)
608608MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
708772DOMAINSAM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2343 / 2343
position (AA) of stopcodon in wt / mu AA sequence 781 / 781
position of stopcodon in wt / mu cDNA 2822 / 2822
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 480 / 480
chromosome 6
strand 1
last intron/exon boundary 2679
theoretical NMD boundary in CDS 2149
length of CDS 2343
coding sequence (CDS) position 548
cDNA position
(for ins/del: last normal base / first normal base)		 1027
gDNA position
(for ins/del: last normal base / first normal base)		 39259
chromosomal position
(for ins/del: last normal base / first normal base)		 130374102
original gDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered gDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
original cDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered cDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
wildtype AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EAPTSPPSSR PVFPPAYWTS PPGCPTVFSE KTGMPFRLKD PVKVEGLQFC
ENCCQYGNVD ECLSGGNYCS QNCARHIKDK DQKEERDVEE DNEEEDPKCS RKKKPKLSLK
ADTKEDGEER DDEMENKQDV RILRGSQRAR RKRRGDSAVL KQGLPPKGKK AWCWASYLEE
EKAVAVPAKL FKEHQSFPYN KNGFKVGMKL EGVDPEHQSV YCVLTVAEVC GYRIKLHFDG
YSDCYDFWVN ADALDIHPVG WCEKTGHKLH PPKGYKEEEF NWQTYLKTCK AQAAPKSLFE
NQNITVIPSG FRVGMKLEAV DKKNPSFICV ATVTDMVDNR FLVHFDNWDE SYDYWCEASS
PHIHPVGWCK EHRRTLITPP GYPNVKHFSW DKYLEETNSL PAPARAFKVK PPHGFQKKMK
LEVVDKRNPM FIRVATVADT DDHRVKVHFD GWNNCYDYWI DADSPDIHPV GWCSKTGHPL
QPPLSPLELM EASEHGGCST PGCKGIGHFK RARHLGPHSA ANCPYSEINL NKDRIFPDRL
SGEMPPASPS FPRNKRTDAN ESSSSPEIRD QHADDVKEDF EERTESEMRT SHEARGAREE
PTVQQAQRRS AVFLSFKSPI PCLPLRWEQQ SKLLPTVAGI PASKVSKWST DEVSEFIQSL
PGCEEHGKVF KDEQIDGEAF LLMTQTDIVK IMSIKLGPAL KIFNSILMFK AAEKNSHNEL
*
mutated AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EAPTSPPSSR PVFPPAYWTS PPGCPTVFSE KTGMPFRLKD PVKVEGLQFC
ENCCQYGNVD ECLSGGNYCS QNCARHIKDK DQKEERDVEE DNEEEDPKCS RKKKPKLSLK
ADNKEDGEER DDEMENKQDV RILRGSQRAR RKRRGDSAVL KQGLPPKGKK AWCWASYLEE
EKAVAVPAKL FKEHQSFPYN KNGFKVGMKL EGVDPEHQSV YCVLTVAEVC GYRIKLHFDG
YSDCYDFWVN ADALDIHPVG WCEKTGHKLH PPKGYKEEEF NWQTYLKTCK AQAAPKSLFE
NQNITVIPSG FRVGMKLEAV DKKNPSFICV ATVTDMVDNR FLVHFDNWDE SYDYWCEASS
PHIHPVGWCK EHRRTLITPP GYPNVKHFSW DKYLEETNSL PAPARAFKVK PPHGFQKKMK
LEVVDKRNPM FIRVATVADT DDHRVKVHFD GWNNCYDYWI DADSPDIHPV GWCSKTGHPL
QPPLSPLELM EASEHGGCST PGCKGIGHFK RARHLGPHSA ANCPYSEINL NKDRIFPDRL
SGEMPPASPS FPRNKRTDAN ESSSSPEIRD QHADDVKEDF EERTESEMRT SHEARGAREE
PTVQQAQRRS AVFLSFKSPI PCLPLRWEQQ SKLLPTVAGI PASKVSKWST DEVSEFIQSL
PGCEEHGKVF KDEQIDGEAF LLMTQTDIVK IMSIKLGPAL KIFNSILMFK AAEKNSHNEL
*
speed 1.02 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: 0.999988091858901 (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) chr6:130374102C>AN/A show variant in all transcripts   IGV
HGNC symbol L3MBTL3
Ensembl transcript ID ENST00000533560
Genbank transcript ID N/A
UniProt peptide Q96JM7
alteration type single base exchange
alteration region CDS
DNA changes c.473C>A
cDNA.643C>A
g.39259C>A
AA changes T158N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 158
frameshift no
known variant Reference ID: rs9388768
databasehomozygous (A/A)heterozygousallele carriers
1000G7779701747
ExAC25084-174017683
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9730.042
2.0590.939
(flanking)0.7750.977
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased39251wt: 0.35 / mu: 0.39wt: CTGAAAGCTGACACC
mu: CTGAAAGCTGACAAC		 GAAA|gctg
Donor increased39262wt: 0.24 / mu: 0.29wt: CACCAAGGAGGATGG
mu: CAACAAGGAGGATGG		 CCAA|ggag
Donor increased39254wt: 0.34 / mu: 0.84wt: AAAGCTGACACCAAG
mu: AAAGCTGACAACAAG		 AGCT|gaca
Donor increased39261wt: 0.50 / mu: 0.61wt: ACACCAAGGAGGATG
mu: ACAACAAGGAGGATG		 ACCA|agga
Donor gained392630.31mu: AACAAGGAGGATGGA CAAG|gagg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      158KKKPKLSLKADTKEDGEERDDEME
mutated  not conserved    158KKKPKLSLKADNKEDGEERDDEM
Ptroglodytes  not conserved  ENSPTRG00000023858  94KKKPKLSLKADPKEDGEERDDEM
Mmulatta  not conserved  ENSMMUG00000021498  183VDPKEDGEERDDEM
Fcatus  all conserved  ENSFCAG00000001466  183KKKPKLSLKADSKEDGEDRDDEM
Mmusculus  all conserved  ENSMUSG00000039089  183ADSKDDGEERDDEM
Ggallus  all conserved  ENSGALG00000014009  186PLKEESRDNEEKKENPDET
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000025983  114SAEDMDSSMDIPEEEDEDY
Dmelanogaster  all identical  FBgn0002441  782SRTQLEQTAGTAPDLPQK--RQ
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
232332REPEATMBT 1.might get lost (downstream of altered splice site)
234241HELIXmight get lost (downstream of altered splice site)
248250HELIXmight get lost (downstream of altered splice site)
253255TURNmight get lost (downstream of altered splice site)
269274STRANDmight get lost (downstream of altered splice site)
277290STRANDmight get lost (downstream of altered splice site)
293298STRANDmight get lost (downstream of altered splice site)
303305HELIXmight get lost (downstream of altered splice site)
307310STRANDmight get lost (downstream of altered splice site)
314317STRANDmight get lost (downstream of altered splice site)
321325HELIXmight get lost (downstream of altered splice site)
337339TURNmight get lost (downstream of altered splice site)
340439REPEATMBT 2.might get lost (downstream of altered splice site)
342348HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
360363TURNmight get lost (downstream of altered splice site)
376381STRANDmight get lost (downstream of altered splice site)
384397STRANDmight get lost (downstream of altered splice site)
400405STRANDmight get lost (downstream of altered splice site)
410412HELIXmight get lost (downstream of altered splice site)
414416STRANDmight get lost (downstream of altered splice site)
428431HELIXmight get lost (downstream of altered splice site)
448543REPEATMBT 3.might get lost (downstream of altered splice site)
450456HELIXmight get lost (downstream of altered splice site)
464466HELIXmight get lost (downstream of altered splice site)
472474STRANDmight get lost (downstream of altered splice site)
480484STRANDmight get lost (downstream of altered splice site)
486488STRANDmight get lost (downstream of altered splice site)
492500STRANDmight get lost (downstream of altered splice site)
502509STRANDmight get lost (downstream of altered splice site)
510512STRANDmight get lost (downstream of altered splice site)
514516HELIXmight get lost (downstream of altered splice site)
518521STRANDmight get lost (downstream of altered splice site)
532536HELIXmight get lost (downstream of altered splice site)
546549TURNmight get lost (downstream of altered splice site)
608608MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
708772DOMAINSAM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2268 / 2268
position (AA) of stopcodon in wt / mu AA sequence 756 / 756
position of stopcodon in wt / mu cDNA 2438 / 2438
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 171 / 171
chromosome 6
strand 1
last intron/exon boundary 2295
theoretical NMD boundary in CDS 2074
length of CDS 2268
coding sequence (CDS) position 473
cDNA position
(for ins/del: last normal base / first normal base)		 643
gDNA position
(for ins/del: last normal base / first normal base)		 39259
chromosomal position
(for ins/del: last normal base / first normal base)		 130374102
original gDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered gDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
original cDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered cDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
wildtype AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EVFSEKTGMP FRLKDPVKVE GLQFCENCCQ YGNVDECLSG GNYCSQNCAR
HIKDKDQKEE RDVEEDNEEE DPKCSRKKKP KLSLKADTKE DGEERDDEME NKQDVRILRG
SQRARRKRRG DSAVLKQGLP PKGKKAWCWA SYLEEEKAVA VPAKLFKEHQ SFPYNKNGFK
VGMKLEGVDP EHQSVYCVLT VAEVCGYRIK LHFDGYSDCY DFWVNADALD IHPVGWCEKT
GHKLHPPKGY KEEEFNWQTY LKTCKAQAAP KSLFENQNIT VIPSGFRVGM KLEAVDKKNP
SFICVATVTD MVDNRFLVHF DNWDESYDYW CEASSPHIHP VGWCKEHRRT LITPPGYPNV
KHFSWDKYLE ETNSLPAPAR AFKVKPPHGF QKKMKLEVVD KRNPMFIRVA TVADTDDHRV
KVHFDGWNNC YDYWIDADSP DIHPVGWCSK TGHPLQPPLS PLELMEASEH GGCSTPGCKG
IGHFKRARHL GPHSAANCPY SEINLNKDRI FPDRLSGEMP PASPSFPRNK RTDANESSSS
PEIRDQHADD VKEDFEERTE SEMRTSHEAR GAREEPTVQQ AQRRSAVFLS FKSPIPCLPL
RWEQQSKLLP TVAGIPASKV SKWSTDEVSE FIQSLPGCEE HGKVFKDEQI DGEAFLLMTQ
TDIVKIMSIK LGPALKIFNS ILMFKAAEKN SHNEL*
mutated AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EVFSEKTGMP FRLKDPVKVE GLQFCENCCQ YGNVDECLSG GNYCSQNCAR
HIKDKDQKEE RDVEEDNEEE DPKCSRKKKP KLSLKADNKE DGEERDDEME NKQDVRILRG
SQRARRKRRG DSAVLKQGLP PKGKKAWCWA SYLEEEKAVA VPAKLFKEHQ SFPYNKNGFK
VGMKLEGVDP EHQSVYCVLT VAEVCGYRIK LHFDGYSDCY DFWVNADALD IHPVGWCEKT
GHKLHPPKGY KEEEFNWQTY LKTCKAQAAP KSLFENQNIT VIPSGFRVGM KLEAVDKKNP
SFICVATVTD MVDNRFLVHF DNWDESYDYW CEASSPHIHP VGWCKEHRRT LITPPGYPNV
KHFSWDKYLE ETNSLPAPAR AFKVKPPHGF QKKMKLEVVD KRNPMFIRVA TVADTDDHRV
KVHFDGWNNC YDYWIDADSP DIHPVGWCSK TGHPLQPPLS PLELMEASEH GGCSTPGCKG
IGHFKRARHL GPHSAANCPY SEINLNKDRI FPDRLSGEMP PASPSFPRNK RTDANESSSS
PEIRDQHADD VKEDFEERTE SEMRTSHEAR GAREEPTVQQ AQRRSAVFLS FKSPIPCLPL
RWEQQSKLLP TVAGIPASKV SKWSTDEVSE FIQSLPGCEE HGKVFKDEQI DGEAFLLMTQ
TDIVKIMSIK LGPALKIFNS ILMFKAAEKN SHNEL*
speed 1.15 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: 0.999988091858901 (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) chr6:130374102C>AN/A show variant in all transcripts   IGV
HGNC symbol L3MBTL3
Ensembl transcript ID ENST00000368139
Genbank transcript ID NM_001007102
UniProt peptide Q96JM7
alteration type single base exchange
alteration region CDS
DNA changes c.473C>A
cDNA.666C>A
g.39259C>A
AA changes T158N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 158
frameshift no
known variant Reference ID: rs9388768
databasehomozygous (A/A)heterozygousallele carriers
1000G7779701747
ExAC25084-174017683
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9730.042
2.0590.939
(flanking)0.7750.977
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased39251wt: 0.35 / mu: 0.39wt: CTGAAAGCTGACACC
mu: CTGAAAGCTGACAAC		 GAAA|gctg
Donor increased39262wt: 0.24 / mu: 0.29wt: CACCAAGGAGGATGG
mu: CAACAAGGAGGATGG		 CCAA|ggag
Donor increased39254wt: 0.34 / mu: 0.84wt: AAAGCTGACACCAAG
mu: AAAGCTGACAACAAG		 AGCT|gaca
Donor increased39261wt: 0.50 / mu: 0.61wt: ACACCAAGGAGGATG
mu: ACAACAAGGAGGATG		 ACCA|agga
Donor gained392630.31mu: AACAAGGAGGATGGA CAAG|gagg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      158KKKPKLSLKADTKEDGEERDDEME
mutated  not conserved    158KKKPKLSLKADNKEDGEERDDEM
Ptroglodytes  not conserved  ENSPTRG00000023858  94KKKPKLSLKADPKEDGEERDDEM
Mmulatta  not conserved  ENSMMUG00000021498  183VDPKEDGEERDDEM
Fcatus  all conserved  ENSFCAG00000001466  183KKKPKLSLKADSKEDGEDRDDEM
Mmusculus  all conserved  ENSMUSG00000039089  183ADSKDDGEERDDEM
Ggallus  all conserved  ENSGALG00000014009  186PLKEESRDNEEKKENPDET
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000025983  114SAEDMDSSMDIPEEEDEDY
Dmelanogaster  all identical  FBgn0002441  782SRTQLEQTAGTAPDLPQK--RQ
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
232332REPEATMBT 1.might get lost (downstream of altered splice site)
234241HELIXmight get lost (downstream of altered splice site)
248250HELIXmight get lost (downstream of altered splice site)
253255TURNmight get lost (downstream of altered splice site)
269274STRANDmight get lost (downstream of altered splice site)
277290STRANDmight get lost (downstream of altered splice site)
293298STRANDmight get lost (downstream of altered splice site)
303305HELIXmight get lost (downstream of altered splice site)
307310STRANDmight get lost (downstream of altered splice site)
314317STRANDmight get lost (downstream of altered splice site)
321325HELIXmight get lost (downstream of altered splice site)
337339TURNmight get lost (downstream of altered splice site)
340439REPEATMBT 2.might get lost (downstream of altered splice site)
342348HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
360363TURNmight get lost (downstream of altered splice site)
376381STRANDmight get lost (downstream of altered splice site)
384397STRANDmight get lost (downstream of altered splice site)
400405STRANDmight get lost (downstream of altered splice site)
410412HELIXmight get lost (downstream of altered splice site)
414416STRANDmight get lost (downstream of altered splice site)
428431HELIXmight get lost (downstream of altered splice site)
448543REPEATMBT 3.might get lost (downstream of altered splice site)
450456HELIXmight get lost (downstream of altered splice site)
464466HELIXmight get lost (downstream of altered splice site)
472474STRANDmight get lost (downstream of altered splice site)
480484STRANDmight get lost (downstream of altered splice site)
486488STRANDmight get lost (downstream of altered splice site)
492500STRANDmight get lost (downstream of altered splice site)
502509STRANDmight get lost (downstream of altered splice site)
510512STRANDmight get lost (downstream of altered splice site)
514516HELIXmight get lost (downstream of altered splice site)
518521STRANDmight get lost (downstream of altered splice site)
532536HELIXmight get lost (downstream of altered splice site)
546549TURNmight get lost (downstream of altered splice site)
608608MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
708772DOMAINSAM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2268 / 2268
position (AA) of stopcodon in wt / mu AA sequence 756 / 756
position of stopcodon in wt / mu cDNA 2461 / 2461
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 194 / 194
chromosome 6
strand 1
last intron/exon boundary 2318
theoretical NMD boundary in CDS 2074
length of CDS 2268
coding sequence (CDS) position 473
cDNA position
(for ins/del: last normal base / first normal base)		 666
gDNA position
(for ins/del: last normal base / first normal base)		 39259
chromosomal position
(for ins/del: last normal base / first normal base)		 130374102
original gDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered gDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
original cDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered cDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
wildtype AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EVFSEKTGMP FRLKDPVKVE GLQFCENCCQ YGNVDECLSG GNYCSQNCAR
HIKDKDQKEE RDVEEDNEEE DPKCSRKKKP KLSLKADTKE DGEERDDEME NKQDVRILRG
SQRARRKRRG DSAVLKQGLP PKGKKAWCWA SYLEEEKAVA VPAKLFKEHQ SFPYNKNGFK
VGMKLEGVDP EHQSVYCVLT VAEVCGYRIK LHFDGYSDCY DFWVNADALD IHPVGWCEKT
GHKLHPPKGY KEEEFNWQTY LKTCKAQAAP KSLFENQNIT VIPSGFRVGM KLEAVDKKNP
SFICVATVTD MVDNRFLVHF DNWDESYDYW CEASSPHIHP VGWCKEHRRT LITPPGYPNV
KHFSWDKYLE ETNSLPAPAR AFKVKPPHGF QKKMKLEVVD KRNPMFIRVA TVADTDDHRV
KVHFDGWNNC YDYWIDADSP DIHPVGWCSK TGHPLQPPLS PLELMEASEH GGCSTPGCKG
IGHFKRARHL GPHSAANCPY SEINLNKDRI FPDRLSGEMP PASPSFPRNK RTDANESSSS
PEIRDQHADD VKEDFEERTE SEMRTSHEAR GAREEPTVQQ AQRRSAVFLS FKSPIPCLPL
RWEQQSKLLP TVAGIPASKV SKWSTDEVSE FIQSLPGCEE HGKVFKDEQI DGEAFLLMTQ
TDIVKIMSIK LGPALKIFNS ILMFKAAEKN SHNEL*
mutated AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EVFSEKTGMP FRLKDPVKVE GLQFCENCCQ YGNVDECLSG GNYCSQNCAR
HIKDKDQKEE RDVEEDNEEE DPKCSRKKKP KLSLKADNKE DGEERDDEME NKQDVRILRG
SQRARRKRRG DSAVLKQGLP PKGKKAWCWA SYLEEEKAVA VPAKLFKEHQ SFPYNKNGFK
VGMKLEGVDP EHQSVYCVLT VAEVCGYRIK LHFDGYSDCY DFWVNADALD IHPVGWCEKT
GHKLHPPKGY KEEEFNWQTY LKTCKAQAAP KSLFENQNIT VIPSGFRVGM KLEAVDKKNP
SFICVATVTD MVDNRFLVHF DNWDESYDYW CEASSPHIHP VGWCKEHRRT LITPPGYPNV
KHFSWDKYLE ETNSLPAPAR AFKVKPPHGF QKKMKLEVVD KRNPMFIRVA TVADTDDHRV
KVHFDGWNNC YDYWIDADSP DIHPVGWCSK TGHPLQPPLS PLELMEASEH GGCSTPGCKG
IGHFKRARHL GPHSAANCPY SEINLNKDRI FPDRLSGEMP PASPSFPRNK RTDANESSSS
PEIRDQHADD VKEDFEERTE SEMRTSHEAR GAREEPTVQQ AQRRSAVFLS FKSPIPCLPL
RWEQQSKLLP TVAGIPASKV SKWSTDEVSE FIQSLPGCEE HGKVFKDEQI DGEAFLLMTQ
TDIVKIMSIK LGPALKIFNS ILMFKAAEKN SHNEL*
speed 0.98 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: 0.999988091858901 (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) chr6:130374102C>AN/A show variant in all transcripts   IGV
HGNC symbol L3MBTL3
Ensembl transcript ID ENST00000526019
Genbank transcript ID N/A
UniProt peptide Q96JM7
alteration type single base exchange
alteration region CDS
DNA changes c.473C>A
cDNA.716C>A
g.39259C>A
AA changes T158N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 158
frameshift no
known variant Reference ID: rs9388768
databasehomozygous (A/A)heterozygousallele carriers
1000G7779701747
ExAC25084-174017683
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9730.042
2.0590.939
(flanking)0.7750.977
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased39251wt: 0.35 / mu: 0.39wt: CTGAAAGCTGACACC
mu: CTGAAAGCTGACAAC		 GAAA|gctg
Donor increased39262wt: 0.24 / mu: 0.29wt: CACCAAGGAGGATGG
mu: CAACAAGGAGGATGG		 CCAA|ggag
Donor increased39254wt: 0.34 / mu: 0.84wt: AAAGCTGACACCAAG
mu: AAAGCTGACAACAAG		 AGCT|gaca
Donor increased39261wt: 0.50 / mu: 0.61wt: ACACCAAGGAGGATG
mu: ACAACAAGGAGGATG		 ACCA|agga
Donor gained392630.31mu: AACAAGGAGGATGGA CAAG|gagg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      158KKKPKLSLKADTKEDGEERDDEME
mutated  not conserved    158KKKPKLSLKADNKEDGEERDDEM
Ptroglodytes  not conserved  ENSPTRG00000023858  94KKKPKLSLKADPKEDGEERDDEM
Mmulatta  not conserved  ENSMMUG00000021498  183VDPKEDGEERDDEM
Fcatus  all conserved  ENSFCAG00000001466  183KKKPKLSLKADSKEDGEDRDDEM
Mmusculus  all conserved  ENSMUSG00000039089  183ADSKDDGEERDDEM
Ggallus  all conserved  ENSGALG00000014009  186PLKEESRDNEEKKENPDET
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000025983  114SAEDMDSSMDIPEEEDEDY
Dmelanogaster  all identical  FBgn0002441  782SRTQLEQTAGTAPDLPQK--RQ
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
232332REPEATMBT 1.might get lost (downstream of altered splice site)
234241HELIXmight get lost (downstream of altered splice site)
248250HELIXmight get lost (downstream of altered splice site)
253255TURNmight get lost (downstream of altered splice site)
269274STRANDmight get lost (downstream of altered splice site)
277290STRANDmight get lost (downstream of altered splice site)
293298STRANDmight get lost (downstream of altered splice site)
303305HELIXmight get lost (downstream of altered splice site)
307310STRANDmight get lost (downstream of altered splice site)
314317STRANDmight get lost (downstream of altered splice site)
321325HELIXmight get lost (downstream of altered splice site)
337339TURNmight get lost (downstream of altered splice site)
340439REPEATMBT 2.might get lost (downstream of altered splice site)
342348HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
360363TURNmight get lost (downstream of altered splice site)
376381STRANDmight get lost (downstream of altered splice site)
384397STRANDmight get lost (downstream of altered splice site)
400405STRANDmight get lost (downstream of altered splice site)
410412HELIXmight get lost (downstream of altered splice site)
414416STRANDmight get lost (downstream of altered splice site)
428431HELIXmight get lost (downstream of altered splice site)
448543REPEATMBT 3.might get lost (downstream of altered splice site)
450456HELIXmight get lost (downstream of altered splice site)
464466HELIXmight get lost (downstream of altered splice site)
472474STRANDmight get lost (downstream of altered splice site)
480484STRANDmight get lost (downstream of altered splice site)
486488STRANDmight get lost (downstream of altered splice site)
492500STRANDmight get lost (downstream of altered splice site)
502509STRANDmight get lost (downstream of altered splice site)
510512STRANDmight get lost (downstream of altered splice site)
514516HELIXmight get lost (downstream of altered splice site)
518521STRANDmight get lost (downstream of altered splice site)
532536HELIXmight get lost (downstream of altered splice site)
546549TURNmight get lost (downstream of altered splice site)
608608MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
708772DOMAINSAM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2268 / 2268
position (AA) of stopcodon in wt / mu AA sequence 756 / 756
position of stopcodon in wt / mu cDNA 2511 / 2511
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 244 / 244
chromosome 6
strand 1
last intron/exon boundary 2368
theoretical NMD boundary in CDS 2074
length of CDS 2268
coding sequence (CDS) position 473
cDNA position
(for ins/del: last normal base / first normal base)		 716
gDNA position
(for ins/del: last normal base / first normal base)		 39259
chromosomal position
(for ins/del: last normal base / first normal base)		 130374102
original gDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered gDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
original cDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered cDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
wildtype AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EVFSEKTGMP FRLKDPVKVE GLQFCENCCQ YGNVDECLSG GNYCSQNCAR
HIKDKDQKEE RDVEEDNEEE DPKCSRKKKP KLSLKADTKE DGEERDDEME NKQDVRILRG
SQRARRKRRG DSAVLKQGLP PKGKKAWCWA SYLEEEKAVA VPAKLFKEHQ SFPYNKNGFK
VGMKLEGVDP EHQSVYCVLT VAEVCGYRIK LHFDGYSDCY DFWVNADALD IHPVGWCEKT
GHKLHPPKGY KEEEFNWQTY LKTCKAQAAP KSLFENQNIT VIPSGFRVGM KLEAVDKKNP
SFICVATVTD MVDNRFLVHF DNWDESYDYW CEASSPHIHP VGWCKEHRRT LITPPGYPNV
KHFSWDKYLE ETNSLPAPAR AFKVKPPHGF QKKMKLEVVD KRNPMFIRVA TVADTDDHRV
KVHFDGWNNC YDYWIDADSP DIHPVGWCSK TGHPLQPPLS PLELMEASEH GGCSTPGCKG
IGHFKRARHL GPHSAANCPY SEINLNKDRI FPDRLSGEMP PASPSFPRNK RTDANESSSS
PEIRDQHADD VKEDFEERTE SEMRTSHEAR GAREEPTVQQ AQRRSAVFLS FKSPIPCLPL
RWEQQSKLLP TVAGIPASKV SKWSTDEVSE FIQSLPGCEE HGKVFKDEQI DGEAFLLMTQ
TDIVKIMSIK LGPALKIFNS ILMFKAAEKN SHNEL*
mutated AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EVFSEKTGMP FRLKDPVKVE GLQFCENCCQ YGNVDECLSG GNYCSQNCAR
HIKDKDQKEE RDVEEDNEEE DPKCSRKKKP KLSLKADNKE DGEERDDEME NKQDVRILRG
SQRARRKRRG DSAVLKQGLP PKGKKAWCWA SYLEEEKAVA VPAKLFKEHQ SFPYNKNGFK
VGMKLEGVDP EHQSVYCVLT VAEVCGYRIK LHFDGYSDCY DFWVNADALD IHPVGWCEKT
GHKLHPPKGY KEEEFNWQTY LKTCKAQAAP KSLFENQNIT VIPSGFRVGM KLEAVDKKNP
SFICVATVTD MVDNRFLVHF DNWDESYDYW CEASSPHIHP VGWCKEHRRT LITPPGYPNV
KHFSWDKYLE ETNSLPAPAR AFKVKPPHGF QKKMKLEVVD KRNPMFIRVA TVADTDDHRV
KVHFDGWNNC YDYWIDADSP DIHPVGWCSK TGHPLQPPLS PLELMEASEH GGCSTPGCKG
IGHFKRARHL GPHSAANCPY SEINLNKDRI FPDRLSGEMP PASPSFPRNK RTDANESSSS
PEIRDQHADD VKEDFEERTE SEMRTSHEAR GAREEPTVQQ AQRRSAVFLS FKSPIPCLPL
RWEQQSKLLP TVAGIPASKV SKWSTDEVSE FIQSLPGCEE HGKVFKDEQI DGEAFLLMTQ
TDIVKIMSIK LGPALKIFNS ILMFKAAEKN SHNEL*
speed 0.79 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: 0.999988091858901 (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) chr6:130374102C>AN/A show variant in all transcripts   IGV
HGNC symbol L3MBTL3
Ensembl transcript ID ENST00000368136
Genbank transcript ID N/A
UniProt peptide Q96JM7
alteration type single base exchange
alteration region CDS
DNA changes c.548C>A
cDNA.754C>A
g.39259C>A
AA changes T183N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 183
frameshift no
known variant Reference ID: rs9388768
databasehomozygous (A/A)heterozygousallele carriers
1000G7779701747
ExAC25084-174017683
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9730.042
2.0590.939
(flanking)0.7750.977
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased39251wt: 0.35 / mu: 0.39wt: CTGAAAGCTGACACC
mu: CTGAAAGCTGACAAC		 GAAA|gctg
Donor increased39262wt: 0.24 / mu: 0.29wt: CACCAAGGAGGATGG
mu: CAACAAGGAGGATGG		 CCAA|ggag
Donor increased39254wt: 0.34 / mu: 0.84wt: AAAGCTGACACCAAG
mu: AAAGCTGACAACAAG		 AGCT|gaca
Donor increased39261wt: 0.50 / mu: 0.61wt: ACACCAAGGAGGATG
mu: ACAACAAGGAGGATG		 ACCA|agga
Donor gained392630.31mu: AACAAGGAGGATGGA CAAG|gagg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      183KKKPKLSLKADTKEDGEERDDEME
mutated  not conserved    183ADNKEDGEERDDEM
Ptroglodytes  not conserved  ENSPTRG00000023858  94KKKPKLSLKADPKEDGEERDDEM
Mmulatta  not conserved  ENSMMUG00000021498  183VDPKEDGEERDDEM
Fcatus  all conserved  ENSFCAG00000001466  183KKKPKLSLKADSKEDGEDRDDEM
Mmusculus  all conserved  ENSMUSG00000039089  183ADSKDDGEERDDEM
Ggallus  all conserved  ENSGALG00000014009  186PLKEESRDNEEKKENPDET
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000025983  114RKRTRLERSAEDMDSSMDIPEEEDEDY
Dmelanogaster  all identical  FBgn0002441  782LEQTAGTAPDLPQK--RQ
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
232332REPEATMBT 1.might get lost (downstream of altered splice site)
234241HELIXmight get lost (downstream of altered splice site)
248250HELIXmight get lost (downstream of altered splice site)
253255TURNmight get lost (downstream of altered splice site)
269274STRANDmight get lost (downstream of altered splice site)
277290STRANDmight get lost (downstream of altered splice site)
293298STRANDmight get lost (downstream of altered splice site)
303305HELIXmight get lost (downstream of altered splice site)
307310STRANDmight get lost (downstream of altered splice site)
314317STRANDmight get lost (downstream of altered splice site)
321325HELIXmight get lost (downstream of altered splice site)
337339TURNmight get lost (downstream of altered splice site)
340439REPEATMBT 2.might get lost (downstream of altered splice site)
342348HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
360363TURNmight get lost (downstream of altered splice site)
376381STRANDmight get lost (downstream of altered splice site)
384397STRANDmight get lost (downstream of altered splice site)
400405STRANDmight get lost (downstream of altered splice site)
410412HELIXmight get lost (downstream of altered splice site)
414416STRANDmight get lost (downstream of altered splice site)
428431HELIXmight get lost (downstream of altered splice site)
448543REPEATMBT 3.might get lost (downstream of altered splice site)
450456HELIXmight get lost (downstream of altered splice site)
464466HELIXmight get lost (downstream of altered splice site)
472474STRANDmight get lost (downstream of altered splice site)
480484STRANDmight get lost (downstream of altered splice site)
486488STRANDmight get lost (downstream of altered splice site)
492500STRANDmight get lost (downstream of altered splice site)
502509STRANDmight get lost (downstream of altered splice site)
510512STRANDmight get lost (downstream of altered splice site)
514516HELIXmight get lost (downstream of altered splice site)
518521STRANDmight get lost (downstream of altered splice site)
532536HELIXmight get lost (downstream of altered splice site)
546549TURNmight get lost (downstream of altered splice site)
608608MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
708772DOMAINSAM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2343 / 2343
position (AA) of stopcodon in wt / mu AA sequence 781 / 781
position of stopcodon in wt / mu cDNA 2549 / 2549
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 207 / 207
chromosome 6
strand 1
last intron/exon boundary 2406
theoretical NMD boundary in CDS 2149
length of CDS 2343
coding sequence (CDS) position 548
cDNA position
(for ins/del: last normal base / first normal base)		 754
gDNA position
(for ins/del: last normal base / first normal base)		 39259
chromosomal position
(for ins/del: last normal base / first normal base)		 130374102
original gDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered gDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
original cDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered cDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
wildtype AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EAPTSPPSSR PVFPPAYWTS PPGCPTVFSE KTGMPFRLKD PVKVEGLQFC
ENCCQYGNVD ECLSGGNYCS QNCARHIKDK DQKEERDVEE DNEEEDPKCS RKKKPKLSLK
ADTKEDGEER DDEMENKQDV RILRGSQRAR RKRRGDSAVL KQGLPPKGKK AWCWASYLEE
EKAVAVPAKL FKEHQSFPYN KNGFKVGMKL EGVDPEHQSV YCVLTVAEVC GYRIKLHFDG
YSDCYDFWVN ADALDIHPVG WCEKTGHKLH PPKGYKEEEF NWQTYLKTCK AQAAPKSLFE
NQNITVIPSG FRVGMKLEAV DKKNPSFICV ATVTDMVDNR FLVHFDNWDE SYDYWCEASS
PHIHPVGWCK EHRRTLITPP GYPNVKHFSW DKYLEETNSL PAPARAFKVK PPHGFQKKMK
LEVVDKRNPM FIRVATVADT DDHRVKVHFD GWNNCYDYWI DADSPDIHPV GWCSKTGHPL
QPPLSPLELM EASEHGGCST PGCKGIGHFK RARHLGPHSA ANCPYSEINL NKDRIFPDRL
SGEMPPASPS FPRNKRTDAN ESSSSPEIRD QHADDVKEDF EERTESEMRT SHEARGAREE
PTVQQAQRRS AVFLSFKSPI PCLPLRWEQQ SKLLPTVAGI PASKVSKWST DEVSEFIQSL
PGCEEHGKVF KDEQIDGEAF LLMTQTDIVK IMSIKLGPAL KIFNSILMFK AAEKNSHNEL
*
mutated AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EAPTSPPSSR PVFPPAYWTS PPGCPTVFSE KTGMPFRLKD PVKVEGLQFC
ENCCQYGNVD ECLSGGNYCS QNCARHIKDK DQKEERDVEE DNEEEDPKCS RKKKPKLSLK
ADNKEDGEER DDEMENKQDV RILRGSQRAR RKRRGDSAVL KQGLPPKGKK AWCWASYLEE
EKAVAVPAKL FKEHQSFPYN KNGFKVGMKL EGVDPEHQSV YCVLTVAEVC GYRIKLHFDG
YSDCYDFWVN ADALDIHPVG WCEKTGHKLH PPKGYKEEEF NWQTYLKTCK AQAAPKSLFE
NQNITVIPSG FRVGMKLEAV DKKNPSFICV ATVTDMVDNR FLVHFDNWDE SYDYWCEASS
PHIHPVGWCK EHRRTLITPP GYPNVKHFSW DKYLEETNSL PAPARAFKVK PPHGFQKKMK
LEVVDKRNPM FIRVATVADT DDHRVKVHFD GWNNCYDYWI DADSPDIHPV GWCSKTGHPL
QPPLSPLELM EASEHGGCST PGCKGIGHFK RARHLGPHSA ANCPYSEINL NKDRIFPDRL
SGEMPPASPS FPRNKRTDAN ESSSSPEIRD QHADDVKEDF EERTESEMRT SHEARGAREE
PTVQQAQRRS AVFLSFKSPI PCLPLRWEQQ SKLLPTVAGI PASKVSKWST DEVSEFIQSL
PGCEEHGKVF KDEQIDGEAF LLMTQTDIVK IMSIKLGPAL KIFNSILMFK AAEKNSHNEL
*
speed 0.87 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: 0.999988091858901 (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) chr6:130374102C>AN/A show variant in all transcripts   IGV
HGNC symbol L3MBTL3
Ensembl transcript ID ENST00000361794
Genbank transcript ID N/A
UniProt peptide Q96JM7
alteration type single base exchange
alteration region CDS
DNA changes c.548C>A
cDNA.718C>A
g.39259C>A
AA changes T183N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 183
frameshift no
known variant Reference ID: rs9388768
databasehomozygous (A/A)heterozygousallele carriers
1000G7779701747
ExAC25084-174017683
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9730.042
2.0590.939
(flanking)0.7750.977
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased39251wt: 0.35 / mu: 0.39wt: CTGAAAGCTGACACC
mu: CTGAAAGCTGACAAC		 GAAA|gctg
Donor increased39262wt: 0.24 / mu: 0.29wt: CACCAAGGAGGATGG
mu: CAACAAGGAGGATGG		 CCAA|ggag
Donor increased39254wt: 0.34 / mu: 0.84wt: AAAGCTGACACCAAG
mu: AAAGCTGACAACAAG		 AGCT|gaca
Donor increased39261wt: 0.50 / mu: 0.61wt: ACACCAAGGAGGATG
mu: ACAACAAGGAGGATG		 ACCA|agga
Donor gained392630.31mu: AACAAGGAGGATGGA CAAG|gagg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      183KKKPKLSLKADTKEDGEERDDEME
mutated  not conserved    183ADNKEDGEERDDEM
Ptroglodytes  not conserved  ENSPTRG00000023858  94KKKPKLSLKADPKEDGEERDDEM
Mmulatta  not conserved  ENSMMUG00000021498  183VDPKEDGEERDDEM
Fcatus  all conserved  ENSFCAG00000001466  183KKKPKLSLKADSKEDGEDRDDEM
Mmusculus  all conserved  ENSMUSG00000039089  183ADSKDDGEERDDEM
Ggallus  all conserved  ENSGALG00000014009  186PLKEESRDNEEKKENPDET
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000025983  114RKRTRLERSAEDMDSSMDIPEEEDEDY
Dmelanogaster  all identical  FBgn0002441  782LEQTAGTAPDLPQK--RQ
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
232332REPEATMBT 1.might get lost (downstream of altered splice site)
234241HELIXmight get lost (downstream of altered splice site)
248250HELIXmight get lost (downstream of altered splice site)
253255TURNmight get lost (downstream of altered splice site)
269274STRANDmight get lost (downstream of altered splice site)
277290STRANDmight get lost (downstream of altered splice site)
293298STRANDmight get lost (downstream of altered splice site)
303305HELIXmight get lost (downstream of altered splice site)
307310STRANDmight get lost (downstream of altered splice site)
314317STRANDmight get lost (downstream of altered splice site)
321325HELIXmight get lost (downstream of altered splice site)
337339TURNmight get lost (downstream of altered splice site)
340439REPEATMBT 2.might get lost (downstream of altered splice site)
342348HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
360363TURNmight get lost (downstream of altered splice site)
376381STRANDmight get lost (downstream of altered splice site)
384397STRANDmight get lost (downstream of altered splice site)
400405STRANDmight get lost (downstream of altered splice site)
410412HELIXmight get lost (downstream of altered splice site)
414416STRANDmight get lost (downstream of altered splice site)
428431HELIXmight get lost (downstream of altered splice site)
448543REPEATMBT 3.might get lost (downstream of altered splice site)
450456HELIXmight get lost (downstream of altered splice site)
464466HELIXmight get lost (downstream of altered splice site)
472474STRANDmight get lost (downstream of altered splice site)
480484STRANDmight get lost (downstream of altered splice site)
486488STRANDmight get lost (downstream of altered splice site)
492500STRANDmight get lost (downstream of altered splice site)
502509STRANDmight get lost (downstream of altered splice site)
510512STRANDmight get lost (downstream of altered splice site)
514516HELIXmight get lost (downstream of altered splice site)
518521STRANDmight get lost (downstream of altered splice site)
532536HELIXmight get lost (downstream of altered splice site)
546549TURNmight get lost (downstream of altered splice site)
608608MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
708772DOMAINSAM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2343 / 2343
position (AA) of stopcodon in wt / mu AA sequence 781 / 781
position of stopcodon in wt / mu cDNA 2513 / 2513
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 171 / 171
chromosome 6
strand 1
last intron/exon boundary 2370
theoretical NMD boundary in CDS 2149
length of CDS 2343
coding sequence (CDS) position 548
cDNA position
(for ins/del: last normal base / first normal base)		 718
gDNA position
(for ins/del: last normal base / first normal base)		 39259
chromosomal position
(for ins/del: last normal base / first normal base)		 130374102
original gDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered gDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
original cDNA sequence snippet ATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGA
altered cDNA sequence snippet ATTATCTCTGAAAGCTGACAACAAGGAGGATGGAGAAGAGA
wildtype AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EAPTSPPSSR PVFPPAYWTS PPGCPTVFSE KTGMPFRLKD PVKVEGLQFC
ENCCQYGNVD ECLSGGNYCS QNCARHIKDK DQKEERDVEE DNEEEDPKCS RKKKPKLSLK
ADTKEDGEER DDEMENKQDV RILRGSQRAR RKRRGDSAVL KQGLPPKGKK AWCWASYLEE
EKAVAVPAKL FKEHQSFPYN KNGFKVGMKL EGVDPEHQSV YCVLTVAEVC GYRIKLHFDG
YSDCYDFWVN ADALDIHPVG WCEKTGHKLH PPKGYKEEEF NWQTYLKTCK AQAAPKSLFE
NQNITVIPSG FRVGMKLEAV DKKNPSFICV ATVTDMVDNR FLVHFDNWDE SYDYWCEASS
PHIHPVGWCK EHRRTLITPP GYPNVKHFSW DKYLEETNSL PAPARAFKVK PPHGFQKKMK
LEVVDKRNPM FIRVATVADT DDHRVKVHFD GWNNCYDYWI DADSPDIHPV GWCSKTGHPL
QPPLSPLELM EASEHGGCST PGCKGIGHFK RARHLGPHSA ANCPYSEINL NKDRIFPDRL
SGEMPPASPS FPRNKRTDAN ESSSSPEIRD QHADDVKEDF EERTESEMRT SHEARGAREE
PTVQQAQRRS AVFLSFKSPI PCLPLRWEQQ SKLLPTVAGI PASKVSKWST DEVSEFIQSL
PGCEEHGKVF KDEQIDGEAF LLMTQTDIVK IMSIKLGPAL KIFNSILMFK AAEKNSHNEL
*
mutated AA sequence MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
TTTWMVPTAQ EAPTSPPSSR PVFPPAYWTS PPGCPTVFSE KTGMPFRLKD PVKVEGLQFC
ENCCQYGNVD ECLSGGNYCS QNCARHIKDK DQKEERDVEE DNEEEDPKCS RKKKPKLSLK
ADNKEDGEER DDEMENKQDV RILRGSQRAR RKRRGDSAVL KQGLPPKGKK AWCWASYLEE
EKAVAVPAKL FKEHQSFPYN KNGFKVGMKL EGVDPEHQSV YCVLTVAEVC GYRIKLHFDG
YSDCYDFWVN ADALDIHPVG WCEKTGHKLH PPKGYKEEEF NWQTYLKTCK AQAAPKSLFE
NQNITVIPSG FRVGMKLEAV DKKNPSFICV ATVTDMVDNR FLVHFDNWDE SYDYWCEASS
PHIHPVGWCK EHRRTLITPP GYPNVKHFSW DKYLEETNSL PAPARAFKVK PPHGFQKKMK
LEVVDKRNPM FIRVATVADT DDHRVKVHFD GWNNCYDYWI DADSPDIHPV GWCSKTGHPL
QPPLSPLELM EASEHGGCST PGCKGIGHFK RARHLGPHSA ANCPYSEINL NKDRIFPDRL
SGEMPPASPS FPRNKRTDAN ESSSSPEIRD QHADDVKEDF EERTESEMRT SHEARGAREE
PTVQQAQRRS AVFLSFKSPI PCLPLRWEQQ SKLLPTVAGI PASKVSKWST DEVSEFIQSL
PGCEEHGKVF KDEQIDGEAF LLMTQTDIVK IMSIKLGPAL KIFNSILMFK AAEKNSHNEL
*
speed 1.01 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

data problem

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