Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000261937
Querying Taster for transcript #2: ENST00000393347
Querying Taster for transcript #3: ENST00000502649
MT speed 0 s - this script 2.436199 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FLT4polymorphism_automatic0.999987181643447simple_aaeaffectedH890Qsingle base exchangers448012show file
FLT4polymorphism_automatic0.999987181643447simple_aaeaffectedH890Qsingle base exchangers448012show file
FLT4polymorphism_automatic0.999987181643447simple_aaeaffectedH890Qsingle base exchangers448012show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.28183565530098e-05 (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) chr5:180046344G>CN/A show variant in all transcripts   IGV
HGNC symbol FLT4
Ensembl transcript ID ENST00000261937
Genbank transcript ID NM_182925
UniProt peptide P35916
alteration type single base exchange
alteration region CDS
DNA changes c.2670C>G
cDNA.2749C>G
g.30281C>G
AA changes H890Q Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 890
frameshift no
known variant Reference ID: rs448012
databasehomozygous (C/C)heterozygousallele carriers
1000G87011782048
ExAC23273-137799494
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
CTCF, Transcription Factor, CCCTC-binding factor
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1291
1.5881
(flanking)4.5241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased30277wt: 0.76 / mu: 0.99wt: CAGCGAGCACCGCGC
mu: CAGCGAGCAGCGCGC		 GCGA|gcac
Donor gained302750.68mu: GCCAGCGAGCAGCGC CAGC|gagc
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      890KMLKEGATASEHRALMSELKILIH
mutated  not conserved    890KMLKEGATASEQRALMSELKIL
Ptroglodytes  all identical  ENSPTRG00000017639  890KMLKEGATASEHRALMSELKIL
Mmulatta  all identical  ENSMMUG00000018693  887KMLKEGATASEHRALMSELKIL
Fcatus  all identical  ENSFCAG00000001882  869KMLKEGATASEHRALMSELKILI
Mmusculus  all identical  ENSMUSG00000020357  890KMLKEGATASEHRALMSELKIL
Ggallus  all identical  ENSGALG00000005802  897KMLKEGATASEHKALMSEL
Trubripes  all identical  ENSTRUG00000005654  905KMLKDGATASEHKALMSELKILI
Drerio  all identical  ENSDARG00000015717  911KMLKEGATASEHKALMSELKILI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7971363TOPO_DOMCytoplasmic (Potential).lost
8451173DOMAINProtein kinase.lost
10371037ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
10631063MUTAGENY->F: Loss of phosphorylation site. No effect on stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
10631063MOD_RESPhosphotyrosine; by autocatalysis and SRC.might get lost (downstream of altered splice site)
10681068MUTAGENY->F: Global loss of autophosphorylation. Abolishes stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
10681068MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11281128CONFLICTL -> V (in Ref. 3; CAA49505 and 7; AAO89504/AAO89505).might get lost (downstream of altered splice site)
11641164CONFLICTE -> D (in Ref. 3; CAA49505).might get lost (downstream of altered splice site)
12301230MUTAGENY->F: Loss of phosphorylation site. Strongly reduces stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
12301230MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
12311231MUTAGENY->F: Loss of phosphorylation site. Strongly reduces stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
12311231MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
12651265MUTAGENY->F: Loss of phosphorylation site. No effect on stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
12651265MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
13331333MUTAGENY->F: Loss of phosphorylation site. Reduced autophosphorylation.might get lost (downstream of altered splice site)
13331333MOD_RESPhosphotyrosine; by autocatalysis and SRC.might get lost (downstream of altered splice site)
13371337MOD_RESPhosphotyrosine; by autocatalysis and SRC.might get lost (downstream of altered splice site)
13371337MUTAGENY->F: Reduced autophosphorylation. Strongly reduces stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
13631363MUTAGENY->F: Loss of phosphorylation site. Slighly reduced autophosphorylation.might get lost (downstream of altered splice site)
13631363MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4092 / 4092
position (AA) of stopcodon in wt / mu AA sequence 1364 / 1364
position of stopcodon in wt / mu cDNA 4171 / 4171
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 80 / 80
chromosome 5
strand -1
last intron/exon boundary 3973
theoretical NMD boundary in CDS 3843
length of CDS 4092
coding sequence (CDS) position 2670
cDNA position
(for ins/del: last normal base / first normal base)		 2749
gDNA position
(for ins/del: last normal base / first normal base)		 30281
chromosomal position
(for ins/del: last normal base / first normal base)		 180046344
original gDNA sequence snippet GGCGCCACGGCCAGCGAGCACCGCGCGCTGATGTCGGAGCT
altered gDNA sequence snippet GGCGCCACGGCCAGCGAGCAGCGCGCGCTGATGTCGGAGCT
original cDNA sequence snippet GGCGCCACGGCCAGCGAGCACCGCGCGCTGATGTCGGAGCT
altered cDNA sequence snippet GGCGCCACGGCCAGCGAGCAGCGCGCGCTGATGTCGGAGCT
wildtype AA sequence MQRGAALCLR LWLCLGLLDG LVSGYSMTPP TLNITEESHV IDTGDSLSIS CRGQHPLEWA
WPGAQEAPAT GDKDSEDTGV VRDCEGTDAR PYCKVLLLHE VHANDTGSYV CYYKYIKARI
EGTTAASSYV FVRDFEQPFI NKPDTLLVNR KDAMWVPCLV SIPGLNVTLR SQSSVLWPDG
QEVVWDDRRG MLVSTPLLHD ALYLQCETTW GDQDFLSNPF LVHITGNELY DIQLLPRKSL
ELLVGEKLVL NCTVWAEFNS GVTFDWDYPG KQAERGKWVP ERRSQQTHTE LSSILTIHNV
SQHDLGSYVC KANNGIQRFR ESTEVIVHEN PFISVEWLKG PILEATAGDE LVKLPVKLAA
YPPPEFQWYK DGKALSGRHS PHALVLKEVT EASTGTYTLA LWNSAAGLRR NISLELVVNV
PPQIHEKEAS SPSIYSRHSR QALTCTAYGV PLPLSIQWHW RPWTPCKMFA QRSLRRRQQQ
DLMPQCRDWR AVTTQDAVNP IESLDTWTEF VEGKNKTVSK LVIQNANVSA MYKCVVSNKV
GQDERLIYFY VTTIPDGFTI ESKPSEELLE GQPVLLSCQA DSYKYEHLRW YRLNLSTLHD
AHGNPLLLDC KNVHLFATPL AASLEEVAPG ARHATLSLSI PRVAPEHEGH YVCEVQDRRS
HDKHCHKKYL SVQALEAPRL TQNLTDLLVN VSDSLEMQCL VAGAHAPSIV WYKDERLLEE
KSGVDLADSN QKLSIQRVRE EDAGRYLCSV CNAKGCVNSS ASVAVEGSED KGSMEIVILV
GTGVIAVFFW VLLLLIFCNM RRPAHADIKT GYLSIIMDPG EVPLEEQCEY LSYDASQWEF
PRERLHLGRV LGYGAFGKVV EASAFGIHKG SSCDTVAVKM LKEGATASEH RALMSELKIL
IHIGNHLNVV NLLGACTKPQ GPLMVIVEFC KYGNLSNFLR AKRDAFSPCA EKSPEQRGRF
RAMVELARLD RRRPGSSDRV LFARFSKTEG GARRASPDQE AEDLWLSPLT MEDLVCYSFQ
VARGMEFLAS RKCIHRDLAA RNILLSESDV VKICDFGLAR DIYKDPDYVR KGSARLPLKW
MAPESIFDKV YTTQSDVWSF GVLLWEIFSL GASPYPGVQI NEEFCQRLRD GTRMRAPELA
TPAIRRIMLN CWSGDPKARP AFSELVEILG DLLQGRGLQE EEEVCMAPRS SQSSEEGSFS
QVSTMALHIA QADAEDSPPS LQRHSLAARY YNWVSFPGCL ARGAETRGSS RMKTFEEFPM
TPTTYKGSVD NQTDSGMVLA SEEFEQIESR HRQESGFSCK GPGQNVAVTR AHPDSQGRRR
RPERGARGGQ VFYNSEYGEL SEPSEEDHCS PSARVTFFTD NSY*
mutated AA sequence MQRGAALCLR LWLCLGLLDG LVSGYSMTPP TLNITEESHV IDTGDSLSIS CRGQHPLEWA
WPGAQEAPAT GDKDSEDTGV VRDCEGTDAR PYCKVLLLHE VHANDTGSYV CYYKYIKARI
EGTTAASSYV FVRDFEQPFI NKPDTLLVNR KDAMWVPCLV SIPGLNVTLR SQSSVLWPDG
QEVVWDDRRG MLVSTPLLHD ALYLQCETTW GDQDFLSNPF LVHITGNELY DIQLLPRKSL
ELLVGEKLVL NCTVWAEFNS GVTFDWDYPG KQAERGKWVP ERRSQQTHTE LSSILTIHNV
SQHDLGSYVC KANNGIQRFR ESTEVIVHEN PFISVEWLKG PILEATAGDE LVKLPVKLAA
YPPPEFQWYK DGKALSGRHS PHALVLKEVT EASTGTYTLA LWNSAAGLRR NISLELVVNV
PPQIHEKEAS SPSIYSRHSR QALTCTAYGV PLPLSIQWHW RPWTPCKMFA QRSLRRRQQQ
DLMPQCRDWR AVTTQDAVNP IESLDTWTEF VEGKNKTVSK LVIQNANVSA MYKCVVSNKV
GQDERLIYFY VTTIPDGFTI ESKPSEELLE GQPVLLSCQA DSYKYEHLRW YRLNLSTLHD
AHGNPLLLDC KNVHLFATPL AASLEEVAPG ARHATLSLSI PRVAPEHEGH YVCEVQDRRS
HDKHCHKKYL SVQALEAPRL TQNLTDLLVN VSDSLEMQCL VAGAHAPSIV WYKDERLLEE
KSGVDLADSN QKLSIQRVRE EDAGRYLCSV CNAKGCVNSS ASVAVEGSED KGSMEIVILV
GTGVIAVFFW VLLLLIFCNM RRPAHADIKT GYLSIIMDPG EVPLEEQCEY LSYDASQWEF
PRERLHLGRV LGYGAFGKVV EASAFGIHKG SSCDTVAVKM LKEGATASEQ RALMSELKIL
IHIGNHLNVV NLLGACTKPQ GPLMVIVEFC KYGNLSNFLR AKRDAFSPCA EKSPEQRGRF
RAMVELARLD RRRPGSSDRV LFARFSKTEG GARRASPDQE AEDLWLSPLT MEDLVCYSFQ
VARGMEFLAS RKCIHRDLAA RNILLSESDV VKICDFGLAR DIYKDPDYVR KGSARLPLKW
MAPESIFDKV YTTQSDVWSF GVLLWEIFSL GASPYPGVQI NEEFCQRLRD GTRMRAPELA
TPAIRRIMLN CWSGDPKARP AFSELVEILG DLLQGRGLQE EEEVCMAPRS SQSSEEGSFS
QVSTMALHIA QADAEDSPPS LQRHSLAARY YNWVSFPGCL ARGAETRGSS RMKTFEEFPM
TPTTYKGSVD NQTDSGMVLA SEEFEQIESR HRQESGFSCK GPGQNVAVTR AHPDSQGRRR
RPERGARGGQ VFYNSEYGEL SEPSEEDHCS PSARVTFFTD NSY*
speed 0.18 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: 1.28183565530098e-05 (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) chr5:180046344G>CN/A show variant in all transcripts   IGV
HGNC symbol FLT4
Ensembl transcript ID ENST00000393347
Genbank transcript ID NM_002020
UniProt peptide P35916
alteration type single base exchange
alteration region CDS
DNA changes c.2670C>G
cDNA.2749C>G
g.30281C>G
AA changes H890Q Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 890
frameshift no
known variant Reference ID: rs448012
databasehomozygous (C/C)heterozygousallele carriers
1000G87011782048
ExAC23273-137799494
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
CTCF, Transcription Factor, CCCTC-binding factor
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1291
1.5881
(flanking)4.5241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased30277wt: 0.76 / mu: 0.99wt: CAGCGAGCACCGCGC
mu: CAGCGAGCAGCGCGC		 GCGA|gcac
Donor gained302750.68mu: GCCAGCGAGCAGCGC CAGC|gagc
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      890KMLKEGATASEHRALMSELKILIH
mutated  not conserved    890KMLKEGATASEQRALMSELKIL
Ptroglodytes  all identical  ENSPTRG00000017639  890KMLKEGATASEHRALMSELKIL
Mmulatta  all identical  ENSMMUG00000018693  887KMLKEGATASEHRALMSELKIL
Fcatus  all identical  ENSFCAG00000001882  869KMLKEGATASEHRALMSELKILI
Mmusculus  all identical  ENSMUSG00000020357  890KMLKEGATASEHRALMSELKIL
Ggallus  all identical  ENSGALG00000005802  897KMLKEGATASEHKALMSEL
Trubripes  all identical  ENSTRUG00000005654  905KMLKDGATASEHKALMSELKILI
Drerio  all identical  ENSDARG00000015717  911KMLKEGATASEHKALMSELKILI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7971363TOPO_DOMCytoplasmic (Potential).lost
8451173DOMAINProtein kinase.lost
10371037ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
10631063MUTAGENY->F: Loss of phosphorylation site. No effect on stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
10631063MOD_RESPhosphotyrosine; by autocatalysis and SRC.might get lost (downstream of altered splice site)
10681068MUTAGENY->F: Global loss of autophosphorylation. Abolishes stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
10681068MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11281128CONFLICTL -> V (in Ref. 3; CAA49505 and 7; AAO89504/AAO89505).might get lost (downstream of altered splice site)
11641164CONFLICTE -> D (in Ref. 3; CAA49505).might get lost (downstream of altered splice site)
12301230MUTAGENY->F: Loss of phosphorylation site. Strongly reduces stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
12301230MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
12311231MUTAGENY->F: Loss of phosphorylation site. Strongly reduces stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
12311231MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
12651265MUTAGENY->F: Loss of phosphorylation site. No effect on stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
12651265MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
13331333MUTAGENY->F: Loss of phosphorylation site. Reduced autophosphorylation.might get lost (downstream of altered splice site)
13331333MOD_RESPhosphotyrosine; by autocatalysis and SRC.might get lost (downstream of altered splice site)
13371337MOD_RESPhosphotyrosine; by autocatalysis and SRC.might get lost (downstream of altered splice site)
13371337MUTAGENY->F: Reduced autophosphorylation. Strongly reduces stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
13631363MUTAGENY->F: Loss of phosphorylation site. Slighly reduced autophosphorylation.might get lost (downstream of altered splice site)
13631363MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3897 / 3897
position (AA) of stopcodon in wt / mu AA sequence 1299 / 1299
position of stopcodon in wt / mu cDNA 3976 / 3976
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 80 / 80
chromosome 5
strand -1
last intron/exon boundary 3973
theoretical NMD boundary in CDS 3843
length of CDS 3897
coding sequence (CDS) position 2670
cDNA position
(for ins/del: last normal base / first normal base)		 2749
gDNA position
(for ins/del: last normal base / first normal base)		 30281
chromosomal position
(for ins/del: last normal base / first normal base)		 180046344
original gDNA sequence snippet GGCGCCACGGCCAGCGAGCACCGCGCGCTGATGTCGGAGCT
altered gDNA sequence snippet GGCGCCACGGCCAGCGAGCAGCGCGCGCTGATGTCGGAGCT
original cDNA sequence snippet GGCGCCACGGCCAGCGAGCACCGCGCGCTGATGTCGGAGCT
altered cDNA sequence snippet GGCGCCACGGCCAGCGAGCAGCGCGCGCTGATGTCGGAGCT
wildtype AA sequence MQRGAALCLR LWLCLGLLDG LVSGYSMTPP TLNITEESHV IDTGDSLSIS CRGQHPLEWA
WPGAQEAPAT GDKDSEDTGV VRDCEGTDAR PYCKVLLLHE VHANDTGSYV CYYKYIKARI
EGTTAASSYV FVRDFEQPFI NKPDTLLVNR KDAMWVPCLV SIPGLNVTLR SQSSVLWPDG
QEVVWDDRRG MLVSTPLLHD ALYLQCETTW GDQDFLSNPF LVHITGNELY DIQLLPRKSL
ELLVGEKLVL NCTVWAEFNS GVTFDWDYPG KQAERGKWVP ERRSQQTHTE LSSILTIHNV
SQHDLGSYVC KANNGIQRFR ESTEVIVHEN PFISVEWLKG PILEATAGDE LVKLPVKLAA
YPPPEFQWYK DGKALSGRHS PHALVLKEVT EASTGTYTLA LWNSAAGLRR NISLELVVNV
PPQIHEKEAS SPSIYSRHSR QALTCTAYGV PLPLSIQWHW RPWTPCKMFA QRSLRRRQQQ
DLMPQCRDWR AVTTQDAVNP IESLDTWTEF VEGKNKTVSK LVIQNANVSA MYKCVVSNKV
GQDERLIYFY VTTIPDGFTI ESKPSEELLE GQPVLLSCQA DSYKYEHLRW YRLNLSTLHD
AHGNPLLLDC KNVHLFATPL AASLEEVAPG ARHATLSLSI PRVAPEHEGH YVCEVQDRRS
HDKHCHKKYL SVQALEAPRL TQNLTDLLVN VSDSLEMQCL VAGAHAPSIV WYKDERLLEE
KSGVDLADSN QKLSIQRVRE EDAGRYLCSV CNAKGCVNSS ASVAVEGSED KGSMEIVILV
GTGVIAVFFW VLLLLIFCNM RRPAHADIKT GYLSIIMDPG EVPLEEQCEY LSYDASQWEF
PRERLHLGRV LGYGAFGKVV EASAFGIHKG SSCDTVAVKM LKEGATASEH RALMSELKIL
IHIGNHLNVV NLLGACTKPQ GPLMVIVEFC KYGNLSNFLR AKRDAFSPCA EKSPEQRGRF
RAMVELARLD RRRPGSSDRV LFARFSKTEG GARRASPDQE AEDLWLSPLT MEDLVCYSFQ
VARGMEFLAS RKCIHRDLAA RNILLSESDV VKICDFGLAR DIYKDPDYVR KGSARLPLKW
MAPESIFDKV YTTQSDVWSF GVLLWEIFSL GASPYPGVQI NEEFCQRLRD GTRMRAPELA
TPAIRRIMLN CWSGDPKARP AFSELVEILG DLLQGRGLQE EEEVCMAPRS SQSSEEGSFS
QVSTMALHIA QADAEDSPPS LQRHSLAARY YNWVSFPGCL ARGAETRGSS RMKTFEEFPM
TPTTYKGSVD NQTDSGMVLA SEEFEQIESR HRQESGFR*
mutated AA sequence MQRGAALCLR LWLCLGLLDG LVSGYSMTPP TLNITEESHV IDTGDSLSIS CRGQHPLEWA
WPGAQEAPAT GDKDSEDTGV VRDCEGTDAR PYCKVLLLHE VHANDTGSYV CYYKYIKARI
EGTTAASSYV FVRDFEQPFI NKPDTLLVNR KDAMWVPCLV SIPGLNVTLR SQSSVLWPDG
QEVVWDDRRG MLVSTPLLHD ALYLQCETTW GDQDFLSNPF LVHITGNELY DIQLLPRKSL
ELLVGEKLVL NCTVWAEFNS GVTFDWDYPG KQAERGKWVP ERRSQQTHTE LSSILTIHNV
SQHDLGSYVC KANNGIQRFR ESTEVIVHEN PFISVEWLKG PILEATAGDE LVKLPVKLAA
YPPPEFQWYK DGKALSGRHS PHALVLKEVT EASTGTYTLA LWNSAAGLRR NISLELVVNV
PPQIHEKEAS SPSIYSRHSR QALTCTAYGV PLPLSIQWHW RPWTPCKMFA QRSLRRRQQQ
DLMPQCRDWR AVTTQDAVNP IESLDTWTEF VEGKNKTVSK LVIQNANVSA MYKCVVSNKV
GQDERLIYFY VTTIPDGFTI ESKPSEELLE GQPVLLSCQA DSYKYEHLRW YRLNLSTLHD
AHGNPLLLDC KNVHLFATPL AASLEEVAPG ARHATLSLSI PRVAPEHEGH YVCEVQDRRS
HDKHCHKKYL SVQALEAPRL TQNLTDLLVN VSDSLEMQCL VAGAHAPSIV WYKDERLLEE
KSGVDLADSN QKLSIQRVRE EDAGRYLCSV CNAKGCVNSS ASVAVEGSED KGSMEIVILV
GTGVIAVFFW VLLLLIFCNM RRPAHADIKT GYLSIIMDPG EVPLEEQCEY LSYDASQWEF
PRERLHLGRV LGYGAFGKVV EASAFGIHKG SSCDTVAVKM LKEGATASEQ RALMSELKIL
IHIGNHLNVV NLLGACTKPQ GPLMVIVEFC KYGNLSNFLR AKRDAFSPCA EKSPEQRGRF
RAMVELARLD RRRPGSSDRV LFARFSKTEG GARRASPDQE AEDLWLSPLT MEDLVCYSFQ
VARGMEFLAS RKCIHRDLAA RNILLSESDV VKICDFGLAR DIYKDPDYVR KGSARLPLKW
MAPESIFDKV YTTQSDVWSF GVLLWEIFSL GASPYPGVQI NEEFCQRLRD GTRMRAPELA
TPAIRRIMLN CWSGDPKARP AFSELVEILG DLLQGRGLQE EEEVCMAPRS SQSSEEGSFS
QVSTMALHIA QADAEDSPPS LQRHSLAARY YNWVSFPGCL ARGAETRGSS RMKTFEEFPM
TPTTYKGSVD NQTDSGMVLA SEEFEQIESR HRQESGFR*
speed 0.13 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: 1.28183565530098e-05 (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) chr5:180046344G>CN/A show variant in all transcripts   IGV
HGNC symbol FLT4
Ensembl transcript ID ENST00000502649
Genbank transcript ID N/A
UniProt peptide P35916
alteration type single base exchange
alteration region CDS
DNA changes c.2670C>G
cDNA.2725C>G
g.30281C>G
AA changes H890Q Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 890
frameshift no
known variant Reference ID: rs448012
databasehomozygous (C/C)heterozygousallele carriers
1000G87011782048
ExAC23273-137799494
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
CTCF, Transcription Factor, CCCTC-binding factor
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1291
1.5881
(flanking)4.5241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased30277wt: 0.76 / mu: 0.99wt: CAGCGAGCACCGCGC
mu: CAGCGAGCAGCGCGC		 GCGA|gcac
Donor gained302750.68mu: GCCAGCGAGCAGCGC CAGC|gagc
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      890KMLKEGATASEHRALMSELKILIH
mutated  not conserved    890KMLKEGATASEQRALMSELKIL
Ptroglodytes  all identical  ENSPTRG00000017639  890KMLKEGATASEHRALMSELKIL
Mmulatta  all identical  ENSMMUG00000018693  887KMLKEGATASEHRALMSELKIL
Fcatus  all identical  ENSFCAG00000001882  869KMLKEGATASEHRALMSELKILI
Mmusculus  all identical  ENSMUSG00000020357  890KMLKEGATASEHRALMSELKIL
Ggallus  all identical  ENSGALG00000005802  897KMLKEGATASEHKALMSEL
Trubripes  all identical  ENSTRUG00000005654  905KMLKDGATASEHKALMSELKILI
Drerio  all identical  ENSDARG00000015717  911KMLKEGATASEHKALMSELKILI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7971363TOPO_DOMCytoplasmic (Potential).lost
8451173DOMAINProtein kinase.lost
10371037ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
10631063MUTAGENY->F: Loss of phosphorylation site. No effect on stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
10631063MOD_RESPhosphotyrosine; by autocatalysis and SRC.might get lost (downstream of altered splice site)
10681068MUTAGENY->F: Global loss of autophosphorylation. Abolishes stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
10681068MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11281128CONFLICTL -> V (in Ref. 3; CAA49505 and 7; AAO89504/AAO89505).might get lost (downstream of altered splice site)
11641164CONFLICTE -> D (in Ref. 3; CAA49505).might get lost (downstream of altered splice site)
12301230MUTAGENY->F: Loss of phosphorylation site. Strongly reduces stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
12301230MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
12311231MUTAGENY->F: Loss of phosphorylation site. Strongly reduces stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
12311231MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
12651265MUTAGENY->F: Loss of phosphorylation site. No effect on stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
12651265MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
13331333MUTAGENY->F: Loss of phosphorylation site. Reduced autophosphorylation.might get lost (downstream of altered splice site)
13331333MOD_RESPhosphotyrosine; by autocatalysis and SRC.might get lost (downstream of altered splice site)
13371337MOD_RESPhosphotyrosine; by autocatalysis and SRC.might get lost (downstream of altered splice site)
13371337MUTAGENY->F: Reduced autophosphorylation. Strongly reduces stimulation of cell proliferation and cell migration.might get lost (downstream of altered splice site)
13631363MUTAGENY->F: Loss of phosphorylation site. Slighly reduced autophosphorylation.might get lost (downstream of altered splice site)
13631363MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3921 / 3921
position (AA) of stopcodon in wt / mu AA sequence 1307 / 1307
position of stopcodon in wt / mu cDNA 3976 / 3976
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 56 / 56
chromosome 5
strand -1
last intron/exon boundary 3949
theoretical NMD boundary in CDS 3843
length of CDS 3921
coding sequence (CDS) position 2670
cDNA position
(for ins/del: last normal base / first normal base)		 2725
gDNA position
(for ins/del: last normal base / first normal base)		 30281
chromosomal position
(for ins/del: last normal base / first normal base)		 180046344
original gDNA sequence snippet GGCGCCACGGCCAGCGAGCACCGCGCGCTGATGTCGGAGCT
altered gDNA sequence snippet GGCGCCACGGCCAGCGAGCAGCGCGCGCTGATGTCGGAGCT
original cDNA sequence snippet GGCGCCACGGCCAGCGAGCACCGCGCGCTGATGTCGGAGCT
altered cDNA sequence snippet GGCGCCACGGCCAGCGAGCAGCGCGCGCTGATGTCGGAGCT
wildtype AA sequence MQRGAALCLR LWLCLGLLDG LVSGYSMTPP TLNITEESHV IDTGDSLSIS CRGQHPLEWA
WPGAQEAPAT GDKDSEDTGV VRDCEGTDAR PYCKVLLLHE VHANDTGSYV CYYKYIKARI
EGTTAASSYV FVRDFEQPFI NKPDTLLVNR KDAMWVPCLV SIPGLNVTLR SQSSVLWPDG
QEVVWDDRRG MLVSTPLLHD ALYLQCETTW GDQDFLSNPF LVHITGNELY DIQLLPRKSL
ELLVGEKLVL NCTVWAEFNS GVTFDWDYPG KQAERGKWVP ERRSQQTHTE LSSILTIHNV
SQHDLGSYVC KANNGIQRFR ESTEVIVHEN PFISVEWLKG PILEATAGDE LVKLPVKLAA
YPPPEFQWYK DGKALSGRHS PHALVLKEVT EASTGTYTLA LWNSAAGLRR NISLELVVNV
PPQIHEKEAS SPSIYSRHSR QALTCTAYGV PLPLSIQWHW RPWTPCKMFA QRSLRRRQQQ
DLMPQCRDWR AVTTQDAVNP IESLDTWTEF VEGKNKTVSK LVIQNANVSA MYKCVVSNKV
GQDERLIYFY VTTIPDGFTI ESKPSEELLE GQPVLLSCQA DSYKYEHLRW YRLNLSTLHD
AHGNPLLLDC KNVHLFATPL AASLEEVAPG ARHATLSLSI PRVAPEHEGH YVCEVQDRRS
HDKHCHKKYL SVQALEAPRL TQNLTDLLVN VSDSLEMQCL VAGAHAPSIV WYKDERLLEE
KSGVDLADSN QKLSIQRVRE EDAGRYLCSV CNAKGCVNSS ASVAVEGSED KGSMEIVILV
GTGVIAVFFW VLLLLIFCNM RRPAHADIKT GYLSIIMDPG EVPLEEQCEY LSYDASQWEF
PRERLHLGRV LGYGAFGKVV EASAFGIHKG SSCDTVAVKM LKEGATASEH RALMSELKIL
IHIGNHLNVV NLLGACTKPQ GPLMVIVEFC KYGNLSNFLR AKRDAFSPCA EKSPEQRGRF
RAMVELARLD RRRPGSSDRV LFARFSKTEG GARRASPDQE AEDLWLSPLT MEDLVCYSFQ
VARGMEFLAS RKCIHRDLAA RNILLSESDV VKICDFGLAR DIYKDPDYVR KGSARLPLKW
MAPESIFDKV YTTQSDVWSF GVLLWEIFSL GASPYPGVQI NEEFCQRLRD GTRMRAPELA
TPAIRRIMLN CWSGDPKARP AFSELVEILG DLLQGRGLQE EEEVCMAPRS SQSSEEGSFS
QVSTMALHIA QADAEDSPPS LQRHSLAARY YNWVSFPGCL ARGAETRGSS RMKTFEEFPM
TPTTYKGSVD NQTDSGMVLA SEEFEQIESR HRQESGFRGT RRTRGA*
mutated AA sequence MQRGAALCLR LWLCLGLLDG LVSGYSMTPP TLNITEESHV IDTGDSLSIS CRGQHPLEWA
WPGAQEAPAT GDKDSEDTGV VRDCEGTDAR PYCKVLLLHE VHANDTGSYV CYYKYIKARI
EGTTAASSYV FVRDFEQPFI NKPDTLLVNR KDAMWVPCLV SIPGLNVTLR SQSSVLWPDG
QEVVWDDRRG MLVSTPLLHD ALYLQCETTW GDQDFLSNPF LVHITGNELY DIQLLPRKSL
ELLVGEKLVL NCTVWAEFNS GVTFDWDYPG KQAERGKWVP ERRSQQTHTE LSSILTIHNV
SQHDLGSYVC KANNGIQRFR ESTEVIVHEN PFISVEWLKG PILEATAGDE LVKLPVKLAA
YPPPEFQWYK DGKALSGRHS PHALVLKEVT EASTGTYTLA LWNSAAGLRR NISLELVVNV
PPQIHEKEAS SPSIYSRHSR QALTCTAYGV PLPLSIQWHW RPWTPCKMFA QRSLRRRQQQ
DLMPQCRDWR AVTTQDAVNP IESLDTWTEF VEGKNKTVSK LVIQNANVSA MYKCVVSNKV
GQDERLIYFY VTTIPDGFTI ESKPSEELLE GQPVLLSCQA DSYKYEHLRW YRLNLSTLHD
AHGNPLLLDC KNVHLFATPL AASLEEVAPG ARHATLSLSI PRVAPEHEGH YVCEVQDRRS
HDKHCHKKYL SVQALEAPRL TQNLTDLLVN VSDSLEMQCL VAGAHAPSIV WYKDERLLEE
KSGVDLADSN QKLSIQRVRE EDAGRYLCSV CNAKGCVNSS ASVAVEGSED KGSMEIVILV
GTGVIAVFFW VLLLLIFCNM RRPAHADIKT GYLSIIMDPG EVPLEEQCEY LSYDASQWEF
PRERLHLGRV LGYGAFGKVV EASAFGIHKG SSCDTVAVKM LKEGATASEQ RALMSELKIL
IHIGNHLNVV NLLGACTKPQ GPLMVIVEFC KYGNLSNFLR AKRDAFSPCA EKSPEQRGRF
RAMVELARLD RRRPGSSDRV LFARFSKTEG GARRASPDQE AEDLWLSPLT MEDLVCYSFQ
VARGMEFLAS RKCIHRDLAA RNILLSESDV VKICDFGLAR DIYKDPDYVR KGSARLPLKW
MAPESIFDKV YTTQSDVWSF GVLLWEIFSL GASPYPGVQI NEEFCQRLRD GTRMRAPELA
TPAIRRIMLN CWSGDPKARP AFSELVEILG DLLQGRGLQE EEEVCMAPRS SQSSEEGSFS
QVSTMALHIA QADAEDSPPS LQRHSLAARY YNWVSFPGCL ARGAETRGSS RMKTFEEFPM
TPTTYKGSVD NQTDSGMVLA SEEFEQIESR HRQESGFRGT RRTRGA*
speed 0.14 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