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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000291670
Querying Taster for transcript #2: ENST00000397748
Querying Taster for transcript #3: ENST00000397746
Querying Taster for transcript #4: ENST00000397743
Querying Taster for transcript #5: ENST00000359679
Querying Taster for transcript #6: ENST00000355384
MT speed 0 s - this script 5.31198 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FTCDdisease_causing_automatic0.878443342527315simple_aaeaffected0R299Psingle base exchangers119469015show file
FTCDdisease_causing_automatic0.878443342527315simple_aaeaffected0R299Psingle base exchangers119469015show file
FTCDdisease_causing_automatic0.878443342527315simple_aaeaffected0R299Psingle base exchangers119469015show file
FTCDdisease_causing_automatic0.878443342527315simple_aaeaffected0R299Psingle base exchangers119469015show file
FTCDdisease_causing_automatic0.878443342527315simple_aaeaffected0R299Psingle base exchangers119469015show file
FTCDdisease_causing_automatic0.878443342527315simple_aaeaffected0R299Psingle base exchangers119469015show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.878443342527315 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031683)
  • known disease mutation: rs4018 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr21:47570043C>GN/A show variant in all transcripts   IGV
HGNC symbol FTCD
Ensembl transcript ID ENST00000291670
Genbank transcript ID NM_006657
UniProt peptide O95954
alteration type single base exchange
alteration region CDS
DNA changes c.896G>C
cDNA.940G>C
g.5439G>C
AA changes R299P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs119469015
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs4018 (pathogenic for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0520.069
3.3960.977
(flanking)3.2160.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5444wt: 0.53 / mu: 0.61wt: GGATCAGGCTGGTGG
mu: CGATCAGGCTGGTGG		 ATCA|ggct
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299KENLFILEEEQRIRLVVSRLGLDS
mutated  not conserved    299KENLFILEEEQPIRLVVSRLGLD
Ptroglodytes  all identical  ENSPTRG00000014015  299KESLFILEEEQRIRLVVSRLGLD
Mmulatta  not conserved  ENSMMUG00000022324  302SEAFLVVSRLGLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001155  299KEKLFVLEEEHRIRLVVNRLGLD
Ggallus  all conserved  ENSGALG00000006131  299KEKLFILEEEHKIKLVVSRLGLD
Trubripes  all conserved  ENSTRUG00000000589  309RDGLFIVDEEHKIRLVISKLGLD
Drerio  all conserved  ENSDARG00000007421  309REKLFVVEEEHKIRLVISKLGLD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000011494  299KEKLFVLEEEHKIRLVINRLGLD
protein features
start (aa)end (aa)featuredetails 
182326REGIONFormiminotransferase C-subdomain (By similarity).lost
327334REGIONLinker (By similarity).might get lost (downstream of altered splice site)
335541REGIONCyclodeaminase/cyclohydrolase (By similarity).might get lost (downstream of altered splice site)
412412ACT_SITEFor cyclodeaminase activity (By similarity).might get lost (downstream of altered splice site)
519519MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1626 / 1626
position (AA) of stopcodon in wt / mu AA sequence 542 / 542
position of stopcodon in wt / mu cDNA 1670 / 1670
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 45 / 45
chromosome 21
strand -1
last intron/exon boundary 1673
theoretical NMD boundary in CDS 1578
length of CDS 1626
coding sequence (CDS) position 896
cDNA position
(for ins/del: last normal base / first normal base)		 940
gDNA position
(for ins/del: last normal base / first normal base)		 5439
chromosomal position
(for ins/del: last normal base / first normal base)		 47570043
original gDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGGCCGGG
altered gDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGGCCGGG
original cDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGTGAGCC
altered cDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGTGAGCC
wildtype AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQRI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV PLTLAETVAS LWPALQELAR CGNLACRSDL
QVAAKALEMG VFGAYFNVLI NLRDITDEAF KDQIHHRVSS LLQEAKTQAA LVLDCLETRQ
E*
mutated AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQPI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV PLTLAETVAS LWPALQELAR CGNLACRSDL
QVAAKALEMG VFGAYFNVLI NLRDITDEAF KDQIHHRVSS LLQEAKTQAA LVLDCLETRQ
E*
speed 1.23 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

disease causing

 Model: simple_aae, prob: 0.878443342527315 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031683)
  • known disease mutation: rs4018 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr21:47570043C>GN/A show variant in all transcripts   IGV
HGNC symbol FTCD
Ensembl transcript ID ENST00000397748
Genbank transcript ID N/A
UniProt peptide O95954
alteration type single base exchange
alteration region CDS
DNA changes c.896G>C
cDNA.940G>C
g.5439G>C
AA changes R299P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs119469015
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs4018 (pathogenic for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0520.069
3.3960.977
(flanking)3.2160.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5444wt: 0.53 / mu: 0.61wt: GGATCAGGCTGGTGG
mu: CGATCAGGCTGGTGG		 ATCA|ggct
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299KENLFILEEEQRIRLVVSRLGLDS
mutated  not conserved    299KENLFILEEEQPIRLVVSRLGLD
Ptroglodytes  all identical  ENSPTRG00000014015  299KESLFILEEEQRIRLVVSRLGLD
Mmulatta  not conserved  ENSMMUG00000022324  302SEAFLVVSRLGLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001155  299KEKLFVLEEEHRIRLVVNRLGLD
Ggallus  all conserved  ENSGALG00000006131  299KEKLFILEEEHKIKLVVSRLGLD
Trubripes  all conserved  ENSTRUG00000000589  309RDGLFIVDEEHKIRLVISKLGLD
Drerio  all conserved  ENSDARG00000007421  309REKLFVVEEEHKIRLVISKLGLD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000011494  299KEKLFVLEEEHKIRLVINRLGLD
protein features
start (aa)end (aa)featuredetails 
182326REGIONFormiminotransferase C-subdomain (By similarity).lost
327334REGIONLinker (By similarity).might get lost (downstream of altered splice site)
335541REGIONCyclodeaminase/cyclohydrolase (By similarity).might get lost (downstream of altered splice site)
412412ACT_SITEFor cyclodeaminase activity (By similarity).might get lost (downstream of altered splice site)
519519MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1719 / 1719
position (AA) of stopcodon in wt / mu AA sequence 573 / 573
position of stopcodon in wt / mu cDNA 1763 / 1763
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 45 / 45
chromosome 21
strand -1
last intron/exon boundary 1723
theoretical NMD boundary in CDS 1628
length of CDS 1719
coding sequence (CDS) position 896
cDNA position
(for ins/del: last normal base / first normal base)		 940
gDNA position
(for ins/del: last normal base / first normal base)		 5439
chromosomal position
(for ins/del: last normal base / first normal base)		 47570043
original gDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGGCCGGG
altered gDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGGCCGGG
original cDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGTGAGCC
altered cDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGTGAGCC
wildtype AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQRI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV PLTLAETVAS LWPALQELAR CGNLACRSDL
QVAAKALEMG VFGAYFNVLI NLRDITDEAF KDQPPAGSQD PGCTGAGLLG DPAGVTVREA
SPGSVAPPSP IPRGQSCDLE TPGTAGPSTL EG*
mutated AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQPI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV PLTLAETVAS LWPALQELAR CGNLACRSDL
QVAAKALEMG VFGAYFNVLI NLRDITDEAF KDQPPAGSQD PGCTGAGLLG DPAGVTVREA
SPGSVAPPSP IPRGQSCDLE TPGTAGPSTL EG*
speed 1.24 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

disease causing

 Model: simple_aae, prob: 0.878443342527315 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031683)
  • known disease mutation: rs4018 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr21:47570043C>GN/A show variant in all transcripts   IGV
HGNC symbol FTCD
Ensembl transcript ID ENST00000397746
Genbank transcript ID NM_206965
UniProt peptide O95954
alteration type single base exchange
alteration region CDS
DNA changes c.896G>C
cDNA.940G>C
g.5439G>C
AA changes R299P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs119469015
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs4018 (pathogenic for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0520.069
3.3960.977
(flanking)3.2160.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5444wt: 0.53 / mu: 0.61wt: GGATCAGGCTGGTGG
mu: CGATCAGGCTGGTGG		 ATCA|ggct
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299KENLFILEEEQRIRLVVSRLGLDS
mutated  not conserved    299KENLFILEEEQPIRLVVSRLGLD
Ptroglodytes  all identical  ENSPTRG00000014015  299KESLFILEEEQRIRLVVSRLGLD
Mmulatta  not conserved  ENSMMUG00000022324  302SEAFLVVSRLGLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001155  299KEKLFVLEEEHRIRLVVNRLGLD
Ggallus  all conserved  ENSGALG00000006131  299KEKLFILEEEHKIKLVVSRLGLD
Trubripes  all conserved  ENSTRUG00000000589  309RDGLFIVDEEHKIRLVISKLGLD
Drerio  all conserved  ENSDARG00000007421  309REKLFVVEEEHKIRLVISKLGLD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000011494  299KEKLFVLEEEHKIRLVINRLGLD
protein features
start (aa)end (aa)featuredetails 
182326REGIONFormiminotransferase C-subdomain (By similarity).lost
327334REGIONLinker (By similarity).might get lost (downstream of altered splice site)
335541REGIONCyclodeaminase/cyclohydrolase (By similarity).might get lost (downstream of altered splice site)
412412ACT_SITEFor cyclodeaminase activity (By similarity).might get lost (downstream of altered splice site)
519519MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1626 / 1626
position (AA) of stopcodon in wt / mu AA sequence 542 / 542
position of stopcodon in wt / mu cDNA 1670 / 1670
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 45 / 45
chromosome 21
strand -1
last intron/exon boundary 1584
theoretical NMD boundary in CDS 1489
length of CDS 1626
coding sequence (CDS) position 896
cDNA position
(for ins/del: last normal base / first normal base)		 940
gDNA position
(for ins/del: last normal base / first normal base)		 5439
chromosomal position
(for ins/del: last normal base / first normal base)		 47570043
original gDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGGCCGGG
altered gDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGGCCGGG
original cDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGTGAGCC
altered cDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGTGAGCC
wildtype AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQRI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV PLTLAETVAS LWPALQELAR CGNLACRSDL
QVAAKALEMG VFGAYFNVLI NLRDITDEAF KDQIHHRVSS LLQEAKTQAA LVLDCLETRQ
E*
mutated AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQPI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV PLTLAETVAS LWPALQELAR CGNLACRSDL
QVAAKALEMG VFGAYFNVLI NLRDITDEAF KDQIHHRVSS LLQEAKTQAA LVLDCLETRQ
E*
speed 1.08 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

disease causing

 Model: simple_aae, prob: 0.878443342527315 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031683)
  • known disease mutation: rs4018 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr21:47570043C>GN/A show variant in all transcripts   IGV
HGNC symbol FTCD
Ensembl transcript ID ENST00000397743
Genbank transcript ID N/A
UniProt peptide O95954
alteration type single base exchange
alteration region CDS
DNA changes c.896G>C
cDNA.940G>C
g.5439G>C
AA changes R299P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs119469015
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs4018 (pathogenic for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0520.069
3.3960.977
(flanking)3.2160.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5444wt: 0.53 / mu: 0.61wt: GGATCAGGCTGGTGG
mu: CGATCAGGCTGGTGG		 ATCA|ggct
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299KENLFILEEEQRIRLVVSRLGLDS
mutated  not conserved    299KENLFILEEEQPIRLVVSRLGLD
Ptroglodytes  all identical  ENSPTRG00000014015  299KESLFILEEEQRIRLVVSRLGLD
Mmulatta  not conserved  ENSMMUG00000022324  302SEAFLVVSRLGLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001155  299KEKLFVLEEEHRIRLVVNRLGLD
Ggallus  all conserved  ENSGALG00000006131  299KEKLFILEEEHKIKLVVSRLGLD
Trubripes  all conserved  ENSTRUG00000000589  309RDGLFIVDEEHKIRLVISKLGLD
Drerio  all conserved  ENSDARG00000007421  309REKLFVVEEEHKIRLVISKLGLD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000011494  299KEKLFVLEEEHKIRLVINRLGLD
protein features
start (aa)end (aa)featuredetails 
182326REGIONFormiminotransferase C-subdomain (By similarity).lost
327334REGIONLinker (By similarity).might get lost (downstream of altered splice site)
335541REGIONCyclodeaminase/cyclohydrolase (By similarity).might get lost (downstream of altered splice site)
412412ACT_SITEFor cyclodeaminase activity (By similarity).might get lost (downstream of altered splice site)
519519MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1488 / 1488
position (AA) of stopcodon in wt / mu AA sequence 496 / 496
position of stopcodon in wt / mu cDNA 1532 / 1532
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 45 / 45
chromosome 21
strand -1
last intron/exon boundary 1540
theoretical NMD boundary in CDS 1445
length of CDS 1488
coding sequence (CDS) position 896
cDNA position
(for ins/del: last normal base / first normal base)		 940
gDNA position
(for ins/del: last normal base / first normal base)		 5439
chromosomal position
(for ins/del: last normal base / first normal base)		 47570043
original gDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGGCCGGG
altered gDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGGCCGGG
original cDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGTGAGCC
altered cDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGTGAGCC
wildtype AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQRI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
AHGGPTGGSE AGSLCAADAG GDGGLAVAGP AGTGPVWEPG LPVRPPGGGQ SPGDGRVWRI
FQRAHQPEGH HRRGI*
mutated AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQPI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
AHGGPTGGSE AGSLCAADAG GDGGLAVAGP AGTGPVWEPG LPVRPPGGGQ SPGDGRVWRI
FQRAHQPEGH HRRGI*
speed 1.08 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

disease causing

 Model: simple_aae, prob: 0.878443342527315 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031683)
  • known disease mutation: rs4018 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr21:47570043C>GN/A show variant in all transcripts   IGV
HGNC symbol FTCD
Ensembl transcript ID ENST00000359679
Genbank transcript ID N/A
UniProt peptide O95954
alteration type single base exchange
alteration region CDS
DNA changes c.896G>C
cDNA.940G>C
g.5439G>C
AA changes R299P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs119469015
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs4018 (pathogenic for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0520.069
3.3960.977
(flanking)3.2160.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5444wt: 0.53 / mu: 0.61wt: GGATCAGGCTGGTGG
mu: CGATCAGGCTGGTGG		 ATCA|ggct
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299KENLFILEEEQRIRLVVSRLGLDS
mutated  not conserved    299KENLFILEEEQPIRLVVSRLGLD
Ptroglodytes  all identical  ENSPTRG00000014015  299KESLFILEEEQRIRLVVSRLGLD
Mmulatta  not conserved  ENSMMUG00000022324  302SEAFLVVSRLGLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001155  299KEKLFVLEEEHRIRLVVNRLGLD
Ggallus  all conserved  ENSGALG00000006131  299KEKLFILEEEHKIKLVVSRLGLD
Trubripes  all conserved  ENSTRUG00000000589  309RDGLFIVDEEHKIRLVISKLGLD
Drerio  all conserved  ENSDARG00000007421  309REKLFVVEEEHKIRLVISKLGLD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000011494  299KEKLFVLEEEHKIRLVINRLGLD
protein features
start (aa)end (aa)featuredetails 
182326REGIONFormiminotransferase C-subdomain (By similarity).lost
327334REGIONLinker (By similarity).might get lost (downstream of altered splice site)
335541REGIONCyclodeaminase/cyclohydrolase (By similarity).might get lost (downstream of altered splice site)
412412ACT_SITEFor cyclodeaminase activity (By similarity).might get lost (downstream of altered splice site)
519519MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1719 / 1719
position (AA) of stopcodon in wt / mu AA sequence 573 / 573
position of stopcodon in wt / mu cDNA 1763 / 1763
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 45 / 45
chromosome 21
strand -1
last intron/exon boundary 1723
theoretical NMD boundary in CDS 1628
length of CDS 1719
coding sequence (CDS) position 896
cDNA position
(for ins/del: last normal base / first normal base)		 940
gDNA position
(for ins/del: last normal base / first normal base)		 5439
chromosomal position
(for ins/del: last normal base / first normal base)		 47570043
original gDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGGCCGGG
altered gDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGGCCGGG
original cDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGTGAGCC
altered cDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGTGAGCC
wildtype AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQRI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV PLTLAETVAS LWPALQELAR CGNLACRSDL
QVAAKALEMG VFGAYFNVLI NLRDITDEAF KDQPPAGSQD PGCTGAGLLG DPAGVTVREA
SPGSVAPPSP IPRGQSCDLE TPGTAGPSTL EG*
mutated AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQPI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV PLTLAETVAS LWPALQELAR CGNLACRSDL
QVAAKALEMG VFGAYFNVLI NLRDITDEAF KDQPPAGSQD PGCTGAGLLG DPAGVTVREA
SPGSVAPPSP IPRGQSCDLE TPGTAGPSTL EG*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.878443342527315 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031683)
  • known disease mutation: rs4018 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr21:47570043C>GN/A show variant in all transcripts   IGV
HGNC symbol FTCD
Ensembl transcript ID ENST00000355384
Genbank transcript ID N/A
UniProt peptide O95954
alteration type single base exchange
alteration region CDS
DNA changes c.896G>C
cDNA.940G>C
g.5439G>C
AA changes R299P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs119469015
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs4018 (pathogenic for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031683)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0520.069
3.3960.977
(flanking)3.2160.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5444wt: 0.53 / mu: 0.61wt: GGATCAGGCTGGTGG
mu: CGATCAGGCTGGTGG		 ATCA|ggct
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299KENLFILEEEQRIRLVVSRLGLDS
mutated  not conserved    299KENLFILEEEQPIRLVVSRLGLD
Ptroglodytes  all identical  ENSPTRG00000014015  299KESLFILEEEQRIRLVVSRLGLD
Mmulatta  not conserved  ENSMMUG00000022324  302SEAFLVVSRLGLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001155  299KEKLFVLEEEHRIRLVVNRLGLD
Ggallus  all conserved  ENSGALG00000006131  299KEKLFILEEEHKIKLVVSRLGLD
Trubripes  all conserved  ENSTRUG00000000589  309RDGLFIVDEEHKIRLVISKLGLD
Drerio  all conserved  ENSDARG00000007421  309REKLFVVEEEHKIRLVISKLGLD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000011494  299KEKLFVLEEEHKIRLVINRLGLD
protein features
start (aa)end (aa)featuredetails 
182326REGIONFormiminotransferase C-subdomain (By similarity).lost
327334REGIONLinker (By similarity).might get lost (downstream of altered splice site)
335541REGIONCyclodeaminase/cyclohydrolase (By similarity).might get lost (downstream of altered splice site)
412412ACT_SITEFor cyclodeaminase activity (By similarity).might get lost (downstream of altered splice site)
519519MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1488 / 1488
position (AA) of stopcodon in wt / mu AA sequence 496 / 496
position of stopcodon in wt / mu cDNA 1532 / 1532
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 45 / 45
chromosome 21
strand -1
last intron/exon boundary 1629
theoretical NMD boundary in CDS 1534
length of CDS 1488
coding sequence (CDS) position 896
cDNA position
(for ins/del: last normal base / first normal base)		 940
gDNA position
(for ins/del: last normal base / first normal base)		 5439
chromosomal position
(for ins/del: last normal base / first normal base)		 47570043
original gDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGGCCGGG
altered gDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGGCCGGG
original cDNA sequence snippet CATCCTGGAGGAGGAGCAGCGGATCAGGCTGGTGGTGAGCC
altered cDNA sequence snippet CATCCTGGAGGAGGAGCAGCCGATCAGGCTGGTGGTGAGCC
wildtype AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQRI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
AHGGPTGGSE AGSLCAADAG GDGGLAVAGP AGTGPVWEPG LPVRPPGGGQ SPGDGRVWRI
FQRAHQPEGH HRRGI*
mutated AA sequence MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQPI
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
AHGGPTGGSE AGSLCAADAG GDGGLAVAGP AGTGPVWEPG LPVRPPGGGQ SPGDGRVWRI
FQRAHQPEGH HRRGI*
speed 0.60 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

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