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 3.464062 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FTSJ3polymorphism_automatic1.23601386015082e-07simple_aaeaffectedS424Csingle base exchangers2727288show file
FTSJ3polymorphism_automatic1.23601386015082e-07simple_aaeaffectedS424Csingle base exchangers2727288show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999876398614 (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) chr17:61901197T>AN/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.1270A>T
cDNA.1404A>T
g.6176A>T
AA changes S424C Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 424
frameshift no
known variant Reference ID: rs2727288
databasehomozygous (A/A)heterozygousallele carriers
1000G13699002269
ExAC26913-210595854
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2370.583
0.7520.609
(flanking)0.0780.631
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6178wt: 0.35 / mu: 0.97wt: ACTGGCATGTTCTCCTTGAGCACCATCCGGGGTCACCAGGT
mu: ACTGGCATGTTCTCCTTGTGCACCATCCGGGGTCACCAGGT		 gagc|ACCA
Acc increased6187wt: 0.26 / mu: 0.59wt: TTCTCCTTGAGCACCATCCGGGGTCACCAGGTGAGGCGGCA
mu: TTCTCCTTGTGCACCATCCGGGGTCACCAGGTGAGGCGGCA		 ccgg|GGTC
Acc increased6185wt: 0.81 / mu: 0.96wt: TGTTCTCCTTGAGCACCATCCGGGGTCACCAGGTGAGGCGG
mu: TGTTCTCCTTGTGCACCATCCGGGGTCACCAGGTGAGGCGG		 atcc|GGGG
Acc gained61800.75mu: TGGCATGTTCTCCTTGTGCACCATCCGGGGTCACCAGGTGA gcac|CATC
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      424ADEGETGMFSLSTIRGHQLLEEVT
mutated  not conserved    424FSLCTIRGHQLLEEV
Ptroglodytes  not conserved  ENSPTRG00000009524  424FSLRTIRGHQLLEEV
Mmulatta  not conserved  ENSMMUG00000016768  421FSLRTIRGHQLLEEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000020706  422FSLRTIRGQQLLEEV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000076761  422FSLGSIRKSQGLHQL
Dmelanogaster  not conserved  FBgn0030720  412EHEIFDLKNIRTSAELDELLD
Celegans  not conserved  H06I04.3  413EDQEVFQLKKIRKAKELAEI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 1270
cDNA position
(for ins/del: last normal base / first normal base)		 1404
gDNA position
(for ins/del: last normal base / first normal base)		 6176
chromosomal position
(for ins/del: last normal base / first normal base)		 61901197
original gDNA sequence snippet AGACTGGCATGTTCTCCTTGAGCACCATCCGGGGTCACCAG
altered gDNA sequence snippet AGACTGGCATGTTCTCCTTGTGCACCATCCGGGGTCACCAG
original cDNA sequence snippet AGACTGGCATGTTCTCCTTGAGCACCATCCGGGGTCACCAG
altered cDNA sequence snippet AGACTGGCATGTTCTCCTTGTGCACCATCCGGGGTCACCAG
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 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
FSLCTIRGHQ 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 0.64 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: 0.999999876398614 (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) chr17:61901197T>AN/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.1270A>T
cDNA.1916A>T
g.6176A>T
AA changes S424C Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 424
frameshift no
known variant Reference ID: rs2727288
databasehomozygous (A/A)heterozygousallele carriers
1000G13699002269
ExAC26913-210595854
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2370.583
0.7520.609
(flanking)0.0780.631
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6178wt: 0.35 / mu: 0.97wt: ACTGGCATGTTCTCCTTGAGCACCATCCGGGGTCACCAGGT
mu: ACTGGCATGTTCTCCTTGTGCACCATCCGGGGTCACCAGGT		 gagc|ACCA
Acc increased6187wt: 0.26 / mu: 0.59wt: TTCTCCTTGAGCACCATCCGGGGTCACCAGGTGAGGCGGCA
mu: TTCTCCTTGTGCACCATCCGGGGTCACCAGGTGAGGCGGCA		 ccgg|GGTC
Acc increased6185wt: 0.81 / mu: 0.96wt: TGTTCTCCTTGAGCACCATCCGGGGTCACCAGGTGAGGCGG
mu: TGTTCTCCTTGTGCACCATCCGGGGTCACCAGGTGAGGCGG		 atcc|GGGG
Acc gained61800.75mu: TGGCATGTTCTCCTTGTGCACCATCCGGGGTCACCAGGTGA gcac|CATC
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      424ADEGETGMFSLSTIRGHQLLEEVT
mutated  not conserved    424FSLCTIRGHQLLEEV
Ptroglodytes  not conserved  ENSPTRG00000009524  424FSLRTIRGHQLLEEV
Mmulatta  not conserved  ENSMMUG00000016768  421FSLRTIRGHQLLEEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000020706  422FSLRTIRGQQLLEEV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000076761  422FSLGSIRKSQGLHQL
Dmelanogaster  not conserved  FBgn0030720  412EHEIFDLKNIRTSAELDELLD
Celegans  not conserved  H06I04.3  413EDQEVFQLKKIRKAKELAEI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 1270
cDNA position
(for ins/del: last normal base / first normal base)		 1916
gDNA position
(for ins/del: last normal base / first normal base)		 6176
chromosomal position
(for ins/del: last normal base / first normal base)		 61901197
original gDNA sequence snippet AGACTGGCATGTTCTCCTTGAGCACCATCCGGGGTCACCAG
altered gDNA sequence snippet AGACTGGCATGTTCTCCTTGTGCACCATCCGGGGTCACCAG
original cDNA sequence snippet AGACTGGCATGTTCTCCTTGAGCACCATCCGGGGTCACCAG
altered cDNA sequence snippet AGACTGGCATGTTCTCCTTGTGCACCATCCGGGGTCACCAG
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 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
FSLCTIRGHQ 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 0.83 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