Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000582115
Querying Taster for transcript #2: ENST00000427159
MT speed 0 s - this script 3.854328 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FTSJ3polymorphism_automatic0.000211226395499975simple_aaeaffectedQ91Esingle base exchangers2584625show file
FTSJ3polymorphism_automatic0.000211226395499975simple_aaeaffectedQ91Esingle base exchangers2584625show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.9997887736045 (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) chr17:61903445G>CN/A show variant in all transcripts   IGV
HGNC symbol FTSJ3
Ensembl transcript ID ENST00000427159
Genbank transcript ID NM_017647
UniProt peptide Q8IY81
alteration type single base exchange
alteration region CDS
DNA changes c.271C>G
cDNA.917C>G
g.3928C>G
AA changes Q91E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 91
frameshift no
known variant Reference ID: rs2584625
databasehomozygous (C/C)heterozygousallele carriers
1000G13988742272
ExAC27111-214555656
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0151
3.3211
(flanking)0.7641
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained39270.37mu: CCCAATGTGGTGACTCTCCAGGAGGACATCACAACAGAACG ccag|GAGG
Donor gained39240.47mu: ACTCTCCAGGAGGAC TCTC|cagg
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      91IKPLPNVVTLQQDITTERCRQALR
mutated  all conserved    91IKPLPNVVTLQEDITTERCRQAL
Ptroglodytes  all conserved  ENSPTRG00000009524  91IKPLPNVVTLQEDITTERCRQAL
Mmulatta  all conserved  ENSMMUG00000016768  91IKPLPNVVTLQEDITTERCRQAL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000020706  91IKPLPNVVTLQEDITTERCRQAL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000076761  91IKPIPNVVTLQEDITTEKCRQAL
Dmelanogaster  all conserved  FBgn0030720  91IRPIAGCIGLVEDITTEKCRQSL
Celegans  not conserved  H06I04.3  91IKPIKNCIALQGDITTNETRAAI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
9293REGIONS-adenosyl-L-methionine binding (By similarity).might get lost (downstream of altered splice site)
117117BINDINGS-adenosyl-L-methionine (By similarity).might get lost (downstream of altered splice site)
278278CONFLICTE -> I (in Ref. 1; AAL56015 and 2; BAA90924).might get lost (downstream of altered splice site)
333333MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
335335MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
336336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
347347MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
549549MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
573573MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
580580MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
584584MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
599599MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
601601MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
616616MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
618618MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
620620MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
621621MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
622622MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
623623MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
624624MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
639639MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
644644MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
676676MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
677677MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
688688MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2544 / 2544
position (AA) of stopcodon in wt / mu AA sequence 848 / 848
position of stopcodon in wt / mu cDNA 3190 / 3190
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 647 / 647
chromosome 17
strand -1
last intron/exon boundary 2998
theoretical NMD boundary in CDS 2301
length of CDS 2544
coding sequence (CDS) position 271
cDNA position
(for ins/del: last normal base / first normal base)		 917
gDNA position
(for ins/del: last normal base / first normal base)		 3928
chromosomal position
(for ins/del: last normal base / first normal base)		 61903445
original gDNA sequence snippet CCAATGTGGTGACTCTCCAGCAGGACATCACAACAGAACGT
altered gDNA sequence snippet CCAATGTGGTGACTCTCCAGGAGGACATCACAACAGAACGT
original cDNA sequence snippet CCAATGTGGTGACTCTCCAGCAGGACATCACAACAGAACGT
altered cDNA sequence snippet CCAATGTGGTGACTCTCCAGGAGGACATCACAACAGAACGT
wildtype AA sequence MGKKGKVGKS RRDKFYHLAK ETGYRSRSAF KLIQLNRRFQ FLQKARALLD LCAAPGGWLQ
VAAKFMPVSS LIVGVDLVPI KPLPNVVTLQ QDITTERCRQ ALRKELKTWK VDVVLNDGAP
NVGASWVHDA YSQAHLTLMA LRLACDFLAR GGSFITKVFR SRDYQPLLWI FQQLFRRVQA
TKPQASRHES AEIFVVCQGF LAPDKVDSKF FDPKFAFKEV EVQAKTVTEL VTKKKPKAEG
YAEGDLTLYH RTSVTDFLRA ANPVDFLSKA SEIMVDDEEL AQHPATTEDI RVCCQDIRVL
GRKELRSLLN WRTKLRRYVA KKLKEQAKAL DISLSSGEED EGDEEDSTAG TTKQPSKEEE
EEEEEEQLNQ TLAEMKAQEV AELKRKKKKL LREQRKQRER VELKMDLPGV SIADEGETGM
FSLSTIRGHQ LLEEVTQGDM SAADTFLSDL PRDDIYVSDV EDDGDDTSLD SDLDPEELAG
VRGHQGLRDQ KRMRLTEVQD DKEEEEEENP LLVPLEEKAV LQEEQANLWF SKGSFAGIED
DADEALEISQ AQLLFENRRK GRQQQQKQQL PQTPPSCLKT EIMSPLYQDE APKGTEASSG
TEAATGLEGE EKDGISDSDS STSSEEEESW EPLRGKKRSR GPKSDDDGFE IVPIEDPAKH
RILDPEGLAL GAVIASSKKA KRDLIDNSFN RYTFNEDEGE LPEWFVQEEK QHRIRQLPVG
KKEVEHYRKR WREINARPIK KVAEAKARKK RRMLKRLEQT RKKAEAVVNT VDISEREKVA
QLRSLYKKAG LGKEKRHVTY VVAKKGVGRK VRRPAGVRGH FKVVDSRMKK DQRAQQRKEQ
KKKHKRK*
mutated AA sequence MGKKGKVGKS RRDKFYHLAK ETGYRSRSAF KLIQLNRRFQ FLQKARALLD LCAAPGGWLQ
VAAKFMPVSS LIVGVDLVPI KPLPNVVTLQ EDITTERCRQ ALRKELKTWK VDVVLNDGAP
NVGASWVHDA YSQAHLTLMA LRLACDFLAR GGSFITKVFR SRDYQPLLWI FQQLFRRVQA
TKPQASRHES AEIFVVCQGF LAPDKVDSKF FDPKFAFKEV EVQAKTVTEL VTKKKPKAEG
YAEGDLTLYH RTSVTDFLRA ANPVDFLSKA SEIMVDDEEL AQHPATTEDI RVCCQDIRVL
GRKELRSLLN WRTKLRRYVA KKLKEQAKAL DISLSSGEED EGDEEDSTAG TTKQPSKEEE
EEEEEEQLNQ TLAEMKAQEV AELKRKKKKL LREQRKQRER VELKMDLPGV SIADEGETGM
FSLSTIRGHQ LLEEVTQGDM SAADTFLSDL PRDDIYVSDV EDDGDDTSLD SDLDPEELAG
VRGHQGLRDQ KRMRLTEVQD DKEEEEEENP LLVPLEEKAV LQEEQANLWF SKGSFAGIED
DADEALEISQ AQLLFENRRK GRQQQQKQQL PQTPPSCLKT EIMSPLYQDE APKGTEASSG
TEAATGLEGE EKDGISDSDS STSSEEEESW EPLRGKKRSR GPKSDDDGFE IVPIEDPAKH
RILDPEGLAL GAVIASSKKA KRDLIDNSFN RYTFNEDEGE LPEWFVQEEK QHRIRQLPVG
KKEVEHYRKR WREINARPIK KVAEAKARKK RRMLKRLEQT RKKAEAVVNT VDISEREKVA
QLRSLYKKAG LGKEKRHVTY VVAKKGVGRK VRRPAGVRGH FKVVDSRMKK DQRAQQRKEQ
KKKHKRK*
speed 0.94 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: 0.9997887736045 (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) chr17:61903445G>CN/A show variant in all transcripts   IGV
HGNC symbol FTSJ3
Ensembl transcript ID ENST00000582115
Genbank transcript ID N/A
UniProt peptide Q8IY81
alteration type single base exchange
alteration region CDS
DNA changes c.271C>G
cDNA.405C>G
g.3928C>G
AA changes Q91E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 91
frameshift no
known variant Reference ID: rs2584625
databasehomozygous (C/C)heterozygousallele carriers
1000G13988742272
ExAC27111-214555656
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0151
3.3211
(flanking)0.7641
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained39270.37mu: CCCAATGTGGTGACTCTCCAGGAGGACATCACAACAGAACG ccag|GAGG
Donor gained39240.47mu: ACTCTCCAGGAGGAC TCTC|cagg
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      91IKPLPNVVTLQQDITTERCRQALR
mutated  all conserved    91IKPLPNVVTLQEDITTERCRQAL
Ptroglodytes  all conserved  ENSPTRG00000009524  91IKPLPNVVTLQEDITTERCRQAL
Mmulatta  all conserved  ENSMMUG00000016768  91IKPLPNVVTLQEDITTERCRQAL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000020706  91IKPLPNVVTLQEDITTERCRQAL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000076761  91IKPIPNVVTLQEDITTEKCRQAL
Dmelanogaster  all conserved  FBgn0030720  91IRPIAGCIGLVEDITTEKCRQSL
Celegans  not conserved  H06I04.3  91IKPIKNCIALQGDITTNETRAAI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
9293REGIONS-adenosyl-L-methionine binding (By similarity).might get lost (downstream of altered splice site)
117117BINDINGS-adenosyl-L-methionine (By similarity).might get lost (downstream of altered splice site)
278278CONFLICTE -> I (in Ref. 1; AAL56015 and 2; BAA90924).might get lost (downstream of altered splice site)
333333MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
335335MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
336336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
347347MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
549549MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
573573MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
580580MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
584584MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
599599MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
601601MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
616616MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
618618MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
620620MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
621621MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
622622MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
623623MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
624624MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
639639MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
644644MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
676676MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
677677MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
688688MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2544 / 2544
position (AA) of stopcodon in wt / mu AA sequence 848 / 848
position of stopcodon in wt / mu cDNA 2678 / 2678
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 135 / 135
chromosome 17
strand -1
last intron/exon boundary 2486
theoretical NMD boundary in CDS 2301
length of CDS 2544
coding sequence (CDS) position 271
cDNA position
(for ins/del: last normal base / first normal base)		 405
gDNA position
(for ins/del: last normal base / first normal base)		 3928
chromosomal position
(for ins/del: last normal base / first normal base)		 61903445
original gDNA sequence snippet CCAATGTGGTGACTCTCCAGCAGGACATCACAACAGAACGT
altered gDNA sequence snippet CCAATGTGGTGACTCTCCAGGAGGACATCACAACAGAACGT
original cDNA sequence snippet CCAATGTGGTGACTCTCCAGCAGGACATCACAACAGAACGT
altered cDNA sequence snippet CCAATGTGGTGACTCTCCAGGAGGACATCACAACAGAACGT
wildtype AA sequence MGKKGKVGKS RRDKFYHLAK ETGYRSRSAF KLIQLNRRFQ FLQKARALLD LCAAPGGWLQ
VAAKFMPVSS LIVGVDLVPI KPLPNVVTLQ QDITTERCRQ ALRKELKTWK VDVVLNDGAP
NVGASWVHDA YSQAHLTLMA LRLACDFLAR GGSFITKVFR SRDYQPLLWI FQQLFRRVQA
TKPQASRHES AEIFVVCQGF LAPDKVDSKF FDPKFAFKEV EVQAKTVTEL VTKKKPKAEG
YAEGDLTLYH RTSVTDFLRA ANPVDFLSKA SEIMVDDEEL AQHPATTEDI RVCCQDIRVL
GRKELRSLLN WRTKLRRYVA KKLKEQAKAL DISLSSGEED EGDEEDSTAG TTKQPSKEEE
EEEEEEQLNQ TLAEMKAQEV AELKRKKKKL LREQRKQRER VELKMDLPGV SIADEGETGM
FSLSTIRGHQ LLEEVTQGDM SAADTFLSDL PRDDIYVSDV EDDGDDTSLD SDLDPEELAG
VRGHQGLRDQ KRMRLTEVQD DKEEEEEENP LLVPLEEKAV LQEEQANLWF SKGSFAGIED
DADEALEISQ AQLLFENRRK GRQQQQKQQL PQTPPSCLKT EIMSPLYQDE APKGTEASSG
TEAATGLEGE EKDGISDSDS STSSEEEESW EPLRGKKRSR GPKSDDDGFE IVPIEDPAKH
RILDPEGLAL GAVIASSKKA KRDLIDNSFN RYTFNEDEGE LPEWFVQEEK QHRIRQLPVG
KKEVEHYRKR WREINARPIK KVAEAKARKK RRMLKRLEQT RKKAEAVVNT VDISEREKVA
QLRSLYKKAG LGKEKRHVTY VVAKKGVGRK VRRPAGVRGH FKVVDSRMKK DQRAQQRKEQ
KKKHKRK*
mutated AA sequence MGKKGKVGKS RRDKFYHLAK ETGYRSRSAF KLIQLNRRFQ FLQKARALLD LCAAPGGWLQ
VAAKFMPVSS LIVGVDLVPI KPLPNVVTLQ EDITTERCRQ ALRKELKTWK VDVVLNDGAP
NVGASWVHDA YSQAHLTLMA LRLACDFLAR GGSFITKVFR SRDYQPLLWI FQQLFRRVQA
TKPQASRHES AEIFVVCQGF LAPDKVDSKF FDPKFAFKEV EVQAKTVTEL VTKKKPKAEG
YAEGDLTLYH RTSVTDFLRA ANPVDFLSKA SEIMVDDEEL AQHPATTEDI RVCCQDIRVL
GRKELRSLLN WRTKLRRYVA KKLKEQAKAL DISLSSGEED EGDEEDSTAG TTKQPSKEEE
EEEEEEQLNQ TLAEMKAQEV AELKRKKKKL LREQRKQRER VELKMDLPGV SIADEGETGM
FSLSTIRGHQ LLEEVTQGDM SAADTFLSDL PRDDIYVSDV EDDGDDTSLD SDLDPEELAG
VRGHQGLRDQ KRMRLTEVQD DKEEEEEENP LLVPLEEKAV LQEEQANLWF SKGSFAGIED
DADEALEISQ AQLLFENRRK GRQQQQKQQL PQTPPSCLKT EIMSPLYQDE APKGTEASSG
TEAATGLEGE EKDGISDSDS STSSEEEESW EPLRGKKRSR GPKSDDDGFE IVPIEDPAKH
RILDPEGLAL GAVIASSKKA KRDLIDNSFN RYTFNEDEGE LPEWFVQEEK QHRIRQLPVG
KKEVEHYRKR WREINARPIK KVAEAKARKK RRMLKRLEQT RKKAEAVVNT VDISEREKVA
QLRSLYKKAG LGKEKRHVTY VVAKKGVGRK VRRPAGVRGH FKVVDSRMKK DQRAQQRKEQ
KKKHKRK*
speed 0.45 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