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: ENST00000481110
Querying Taster for transcript #2: ENST00000260795
Querying Taster for transcript #3: ENST00000352904
Querying Taster for transcript #4: ENST00000340107
Querying Taster for transcript #5: ENST00000440486
Querying Taster for transcript #6: ENST00000412135
MT speed 0 s - this script 4.506648 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FGFR3disease_causing_automatic0.999999967509429simple_aae0K651Msingle base exchangers121913105show file
FGFR3disease_causing_automatic0.999999998370595simple_aae0K538Msingle base exchangers121913105show file
FGFR3disease_causing_automatic0.999999998370595simple_aae0K650Msingle base exchangers121913105show file
FGFR3disease_causing_automatic0.999999998370595simple_aae0K652Msingle base exchangers121913105show file
FGFR3disease_causing_automatic0.999999998370595simple_aae0K650Msingle base exchangers121913105show file
FGFR3disease_causing_automatic0.999999998370595simple_aae0K538Msingle base exchangers121913105show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999967509429 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074175)
  • known disease mutation at this position (HGMD CM990596)
  • known disease mutation at this position (HGMD CX140380)
  • known disease mutation: rs16341 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807890A>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000481110
Genbank transcript ID N/A
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.1952A>T
cDNA.2213A>T
g.12857A>T
AA changes K651M Score: 95 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 651
frameshift no
known variant Reference ID: rs121913105
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16341 (pathogenic for SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS|Thanatophoric dysplasia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6221
3.0711
(flanking)1.8771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12854wt: 0.6747 / mu: 0.7157 (marginal change - not scored)wt: GCACAACCTCGACTACTACAAGAAGACGACCAACGTGAGCC
mu: GCACAACCTCGACTACTACAAGATGACGACCAACGTGAGCC		 acaa|GAAG
Donor marginally increased12862wt: 0.9798 / mu: 0.9799 (marginal change - not scored)wt: AGACGACCAACGTGA
mu: TGACGACCAACGTGA		 ACGA|ccaa
Donor marginally increased12855wt: 0.8322 / mu: 0.8757 (marginal change - not scored)wt: TACAAGAAGACGACC
mu: TACAAGATGACGACC		 CAAG|aaga
Donor marginally increased12849wt: 0.8895 / mu: 0.9157 (marginal change - not scored)wt: GACTACTACAAGAAG
mu: GACTACTACAAGATG		 CTAC|taca
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      651ARDVHNLDYYKKTTNLVLWGPALG
mutated  not conserved    651ARDVHNLDYYKMTTNLVLWGP
Ptroglodytes  all identical  ENSPTRG00000015836  649ARDVHNLDYYKKTTN
Mmulatta  all identical  ENSMMUG00000019945  652ARDVHNLDYYKKTTN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  646ARDVHNLDYYKKTTN
Ggallus  all identical  ENSGALG00000015708  649ARDVHNIDYYKKTTN
Trubripes  all identical  ENSTRUG00000003670  609NIDYYKKTTN
Drerio  all identical  ENSDARG00000004782  642VHNIDYYKKTTN
Dmelanogaster  all identical  FBgn0010389  589YRKNTN
Celegans  no alignment  F58A3.2  n/a
Xtropicalis  all identical  ENSXETG00000002396  666ARDIHNIDYYKKTTN
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2379 / 2379
position (AA) of stopcodon in wt / mu AA sequence 793 / 793
position of stopcodon in wt / mu cDNA 2640 / 2640
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 262 / 262
chromosome 4
strand 1
last intron/exon boundary 2468
theoretical NMD boundary in CDS 2156
length of CDS 2379
coding sequence (CDS) position 1952
cDNA position
(for ins/del: last normal base / first normal base)		 2213
gDNA position
(for ins/del: last normal base / first normal base)		 12857
chromosomal position
(for ins/del: last normal base / first normal base)		 1807890
original gDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGTGAGCCCGG
altered gDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGTGAGCCCGG
original cDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACCTGGTCCTTT
altered cDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACCTGGTCCTTT
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQQVSLESNA SMSSNTPLVR IARLSSGEGP TLANVSELEL PADPKWELSR ARLTLGKPLG
EGCFGQVVMA EAIGIDKDRA AKPVTVAVKM LKDDATDKDL SDLVSEMEMM KMIGKHKNII
NLLGACTQGG PLYVLVEYAA KGNLREFLRA RRPPGLDYSF DTCKPPEEQL TFKDLVSCAY
QVARGMEYLA SQKCIHRDLA ARNVLVTEDN VMKIADFGLA RDVHNLDYYK KTTNLVLWGP
ALGDLHAGGL PVPRHPCGGA LQAAEGGPPH GQARQLHTRP VHDHAGVLAC RALPEAHLQA
AGGGPGPCPY RDVHRRVPGP VGAFRAVLPG WPGHPQLQLL RGRLRVCPRP AAPGPTQQWG
LADVKGHWSP TM*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQQVSLESNA SMSSNTPLVR IARLSSGEGP TLANVSELEL PADPKWELSR ARLTLGKPLG
EGCFGQVVMA EAIGIDKDRA AKPVTVAVKM LKDDATDKDL SDLVSEMEMM KMIGKHKNII
NLLGACTQGG PLYVLVEYAA KGNLREFLRA RRPPGLDYSF DTCKPPEEQL TFKDLVSCAY
QVARGMEYLA SQKCIHRDLA ARNVLVTEDN VMKIADFGLA RDVHNLDYYK MTTNLVLWGP
ALGDLHAGGL PVPRHPCGGA LQAAEGGPPH GQARQLHTRP VHDHAGVLAC RALPEAHLQA
AGGGPGPCPY RDVHRRVPGP VGAFRAVLPG WPGHPQLQLL RGRLRVCPRP AAPGPTQQWG
LADVKGHWSP TM*
speed 0.77 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: 0.999999998370595 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074175)
  • known disease mutation at this position (HGMD CM990596)
  • known disease mutation at this position (HGMD CX140380)
  • known disease mutation: rs16341 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807890A>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000352904
Genbank transcript ID N/A
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.1613A>T
cDNA.1652A>T
g.12857A>T
AA changes K538M Score: 95 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 538
frameshift no
known variant Reference ID: rs121913105
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16341 (pathogenic for SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS|Thanatophoric dysplasia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6221
3.0711
(flanking)1.8771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12854wt: 0.6747 / mu: 0.7157 (marginal change - not scored)wt: GCACAACCTCGACTACTACAAGAAGACGACCAACGTGAGCC
mu: GCACAACCTCGACTACTACAAGATGACGACCAACGTGAGCC		 acaa|GAAG
Donor marginally increased12862wt: 0.9798 / mu: 0.9799 (marginal change - not scored)wt: AGACGACCAACGTGA
mu: TGACGACCAACGTGA		 ACGA|ccaa
Donor marginally increased12855wt: 0.8322 / mu: 0.8757 (marginal change - not scored)wt: TACAAGAAGACGACC
mu: TACAAGATGACGACC		 CAAG|aaga
Donor marginally increased12849wt: 0.8895 / mu: 0.9157 (marginal change - not scored)wt: GACTACTACAAGAAG
mu: GACTACTACAAGATG		 CTAC|taca
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      538ARDVHNLDYYKKTTNGRLPVKWMA
mutated  not conserved    538ARDVHNLDYYKMTT
Ptroglodytes  all identical  ENSPTRG00000015836  649ARDVHNLDYYKKTTNGRLPVKWM
Mmulatta  all identical  ENSMMUG00000019945  652ARDVHNLDYYKKTTNGRLPVKWM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  646ARDVHNLDYYKKTTNGRLPVKWM
Ggallus  all identical  ENSGALG00000015708  649ARDVHNIDYYKKTTNGRLPVKWM
Trubripes  all identical  ENSTRUG00000003670  609ARDVHNIDYYKKTTNGRLPVKWM
Drerio  all identical  ENSDARG00000004782  642ARDVHNIDYYKKTTNGRLPVKWM
Dmelanogaster  all identical  FBgn0010389  589ARDIQSTDYYRKNTNGRLPIKWM
Celegans  all identical  F58A3.2  830SRDVHCNDYYRLKRGNGRLPIKWM
Xtropicalis  all identical  ENSXETG00000002396  666ARDIHNIDYYKKTTNGRLPVKWM
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2085 / 2085
position (AA) of stopcodon in wt / mu AA sequence 695 / 695
position of stopcodon in wt / mu cDNA 2124 / 2124
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 40 / 40
chromosome 4
strand 1
last intron/exon boundary 1978
theoretical NMD boundary in CDS 1888
length of CDS 2085
coding sequence (CDS) position 1613
cDNA position
(for ins/del: last normal base / first normal base)		 1652
gDNA position
(for ins/del: last normal base / first normal base)		 12857
chromosomal position
(for ins/del: last normal base / first normal base)		 1807890
original gDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGTGAGCCCGG
altered gDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGTGAGCCCGG
original cDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGGCCGGCTGC
altered cDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGGCCGGCTGC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKMTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
speed 0.66 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: 0.999999998370595 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074175)
  • known disease mutation at this position (HGMD CM990596)
  • known disease mutation at this position (HGMD CX140380)
  • known disease mutation: rs16341 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807890A>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000260795
Genbank transcript ID N/A
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.1949A>T
cDNA.2051A>T
g.12857A>T
AA changes K650M Score: 95 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 650
frameshift no
known variant Reference ID: rs121913105
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16341 (pathogenic for SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS|Thanatophoric dysplasia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6221
3.0711
(flanking)1.8771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12854wt: 0.6747 / mu: 0.7157 (marginal change - not scored)wt: GCACAACCTCGACTACTACAAGAAGACGACCAACGTGAGCC
mu: GCACAACCTCGACTACTACAAGATGACGACCAACGTGAGCC		 acaa|GAAG
Donor marginally increased12862wt: 0.9798 / mu: 0.9799 (marginal change - not scored)wt: AGACGACCAACGTGA
mu: TGACGACCAACGTGA		 ACGA|ccaa
Donor marginally increased12855wt: 0.8322 / mu: 0.8757 (marginal change - not scored)wt: TACAAGAAGACGACC
mu: TACAAGATGACGACC		 CAAG|aaga
Donor marginally increased12849wt: 0.8895 / mu: 0.9157 (marginal change - not scored)wt: GACTACTACAAGAAG
mu: GACTACTACAAGATG		 CTAC|taca
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      650ARDVHNLDYYKKTTNGRLPVKWMA
mutated  not conserved    650ARDVHNLDYYKMTTNGRLPVKW
Ptroglodytes  all identical  ENSPTRG00000015836  649ARDVHNLDYYKKTTNGRLPVKW
Mmulatta  all identical  ENSMMUG00000019945  652ARDVHNLDYYKKTTNGRLP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  646ARDVHNLDYYKKTTNGRLP
Ggallus  all identical  ENSGALG00000015708  649ARDVHNIDYYKKTTNGRLPVKWM
Trubripes  all identical  ENSTRUG00000003670  609IDYYKKTTNGRLPVKWM
Drerio  all identical  ENSDARG00000004782  642VHNIDYYKKTTNGRLPVKWM
Dmelanogaster  all identical  FBgn0010389  589YRKNTNGRLPIKWM
Celegans  all identical  F58A3.2  830SRDVHCNDYYRLKRGNGRLPIKWM
Xtropicalis  all identical  ENSXETG00000002396  666ARDIHNIDYYKKTTNGRLPVKW
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2421 / 2421
position (AA) of stopcodon in wt / mu AA sequence 807 / 807
position of stopcodon in wt / mu cDNA 2523 / 2523
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 103 / 103
chromosome 4
strand 1
last intron/exon boundary 2377
theoretical NMD boundary in CDS 2224
length of CDS 2421
coding sequence (CDS) position 1949
cDNA position
(for ins/del: last normal base / first normal base)		 2051
gDNA position
(for ins/del: last normal base / first normal base)		 12857
chromosomal position
(for ins/del: last normal base / first normal base)		 1807890
original gDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGTGAGCCCGG
altered gDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGTGAGCCCGG
original cDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGGCCGGCTGC
altered cDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGGCCGGCTGC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKM TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
speed 0.75 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: 0.999999998370595 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074175)
  • known disease mutation at this position (HGMD CM990596)
  • known disease mutation at this position (HGMD CX140380)
  • known disease mutation: rs16341 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807890A>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000340107
Genbank transcript ID NM_001163213
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.1955A>T
cDNA.2211A>T
g.12857A>T
AA changes K652M Score: 95 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 652
frameshift no
known variant Reference ID: rs121913105
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16341 (pathogenic for SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS|Thanatophoric dysplasia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6221
3.0711
(flanking)1.8771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12854wt: 0.6747 / mu: 0.7157 (marginal change - not scored)wt: GCACAACCTCGACTACTACAAGAAGACGACCAACGTGAGCC
mu: GCACAACCTCGACTACTACAAGATGACGACCAACGTGAGCC		 acaa|GAAG
Donor marginally increased12862wt: 0.9798 / mu: 0.9799 (marginal change - not scored)wt: AGACGACCAACGTGA
mu: TGACGACCAACGTGA		 ACGA|ccaa
Donor marginally increased12855wt: 0.8322 / mu: 0.8757 (marginal change - not scored)wt: TACAAGAAGACGACC
mu: TACAAGATGACGACC		 CAAG|aaga
Donor marginally increased12849wt: 0.8895 / mu: 0.9157 (marginal change - not scored)wt: GACTACTACAAGAAG
mu: GACTACTACAAGATG		 CTAC|taca
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      652ARDVHNLDYYKKTTNGRLPVKWMA
mutated  not conserved    652ARDVHNLDYYKMTTNGRLPV
Ptroglodytes  all identical  ENSPTRG00000015836  649ARDVHNLDYYKKTTNGRLPV
Mmulatta  all identical  ENSMMUG00000019945  652ARDVHNLDYYKKTTNGRLPV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  646ARDVHNLDYYKKTTNGRLPV
Ggallus  all identical  ENSGALG00000015708  649ARDVHNIDYYKKTTNGRLPVKWM
Trubripes  all identical  ENSTRUG00000003670  609IDYYKKTTNGRLPVKWM
Drerio  all identical  ENSDARG00000004782  642ARDVHNIDYYKKTTNGRLPVKWM
Dmelanogaster  all identical  FBgn0010389  589YYRKNTNGRLPIKWM
Celegans  all identical  F58A3.2  830SRDVHCNDYYRLKRGNGRLPIKWM
Xtropicalis  all identical  ENSXETG00000002396  666ARDIHNIDYYKKTTNGRLPVK
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2427 / 2427
position (AA) of stopcodon in wt / mu AA sequence 809 / 809
position of stopcodon in wt / mu cDNA 2683 / 2683
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 257 / 257
chromosome 4
strand 1
last intron/exon boundary 2537
theoretical NMD boundary in CDS 2230
length of CDS 2427
coding sequence (CDS) position 1955
cDNA position
(for ins/del: last normal base / first normal base)		 2211
gDNA position
(for ins/del: last normal base / first normal base)		 12857
chromosomal position
(for ins/del: last normal base / first normal base)		 1807890
original gDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGTGAGCCCGG
altered gDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGTGAGCCCGG
original cDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGGCCGGCTGC
altered cDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGGCCGGCTGC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK SWISESVEAD VRLRLANVSE RDGGEYLCRA TNFIGVAEKA FWLSVHGPRA
AEEELVEADE AGSVYAGILS YGVGFFLFIL VVAAVTLCRL RSPPKKGLGS PTVHKISRFP
LKRQVSLESN ASMSSNTPLV RIARLSSGEG PTLANVSELE LPADPKWELS RARLTLGKPL
GEGCFGQVVM AEAIGIDKDR AAKPVTVAVK MLKDDATDKD LSDLVSEMEM MKMIGKHKNI
INLLGACTQG GPLYVLVEYA AKGNLREFLR ARRPPGLDYS FDTCKPPEEQ LTFKDLVSCA
YQVARGMEYL ASQKCIHRDL AARNVLVTED NVMKIADFGL ARDVHNLDYY KKTTNGRLPV
KWMAPEALFD RVYTHQSDVW SFGVLLWEIF TLGGSPYPGI PVEELFKLLK EGHRMDKPAN
CTHDLYMIMR ECWHAAPSQR PTFKQLVEDL DRVLTVTSTD EYLDLSAPFE QYSPGGQDTP
SSSSSGDDSV FAHDLLPPAP PSSGGSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK SWISESVEAD VRLRLANVSE RDGGEYLCRA TNFIGVAEKA FWLSVHGPRA
AEEELVEADE AGSVYAGILS YGVGFFLFIL VVAAVTLCRL RSPPKKGLGS PTVHKISRFP
LKRQVSLESN ASMSSNTPLV RIARLSSGEG PTLANVSELE LPADPKWELS RARLTLGKPL
GEGCFGQVVM AEAIGIDKDR AAKPVTVAVK MLKDDATDKD LSDLVSEMEM MKMIGKHKNI
INLLGACTQG GPLYVLVEYA AKGNLREFLR ARRPPGLDYS FDTCKPPEEQ LTFKDLVSCA
YQVARGMEYL ASQKCIHRDL AARNVLVTED NVMKIADFGL ARDVHNLDYY KMTTNGRLPV
KWMAPEALFD RVYTHQSDVW SFGVLLWEIF TLGGSPYPGI PVEELFKLLK EGHRMDKPAN
CTHDLYMIMR ECWHAAPSQR PTFKQLVEDL DRVLTVTSTD EYLDLSAPFE QYSPGGQDTP
SSSSSGDDSV FAHDLLPPAP PSSGGSRT*
speed 0.79 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998370595 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074175)
  • known disease mutation at this position (HGMD CM990596)
  • known disease mutation at this position (HGMD CX140380)
  • known disease mutation: rs16341 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807890A>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000440486
Genbank transcript ID NM_000142
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.1949A>T
cDNA.2205A>T
g.12857A>T
AA changes K650M Score: 95 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 650
frameshift no
known variant Reference ID: rs121913105
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16341 (pathogenic for SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS|Thanatophoric dysplasia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6221
3.0711
(flanking)1.8771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12854wt: 0.6747 / mu: 0.7157 (marginal change - not scored)wt: GCACAACCTCGACTACTACAAGAAGACGACCAACGTGAGCC
mu: GCACAACCTCGACTACTACAAGATGACGACCAACGTGAGCC		 acaa|GAAG
Donor marginally increased12862wt: 0.9798 / mu: 0.9799 (marginal change - not scored)wt: AGACGACCAACGTGA
mu: TGACGACCAACGTGA		 ACGA|ccaa
Donor marginally increased12855wt: 0.8322 / mu: 0.8757 (marginal change - not scored)wt: TACAAGAAGACGACC
mu: TACAAGATGACGACC		 CAAG|aaga
Donor marginally increased12849wt: 0.8895 / mu: 0.9157 (marginal change - not scored)wt: GACTACTACAAGAAG
mu: GACTACTACAAGATG		 CTAC|taca
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      650ARDVHNLDYYKKTTNGRLPVKWMA
mutated  not conserved    650ARDVHNLDYYKMTTNGRLPVKW
Ptroglodytes  all identical  ENSPTRG00000015836  649ARDVHNLDYYKKTTNGRLPVKW
Mmulatta  all identical  ENSMMUG00000019945  652ARDVHNLDYYKKTTNGRLP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  646ARDVHNLDYYKKTTNGRLP
Ggallus  all identical  ENSGALG00000015708  649ARDVHNIDYYKKTTNGRLPVKWM
Trubripes  all identical  ENSTRUG00000003670  609IDYYKKTTNGRLPVKWM
Drerio  all identical  ENSDARG00000004782  642VHNIDYYKKTTNGRLPVKWM
Dmelanogaster  all identical  FBgn0010389  589YRKNTNGRLPIKWM
Celegans  all identical  F58A3.2  830SRDVHCNDYYRLKRGNGRLPIKWM
Xtropicalis  all identical  ENSXETG00000002396  666ARDIHNIDYYKKTTNGRLPVKW
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2421 / 2421
position (AA) of stopcodon in wt / mu AA sequence 807 / 807
position of stopcodon in wt / mu cDNA 2677 / 2677
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 257 / 257
chromosome 4
strand 1
last intron/exon boundary 2531
theoretical NMD boundary in CDS 2224
length of CDS 2421
coding sequence (CDS) position 1949
cDNA position
(for ins/del: last normal base / first normal base)		 2205
gDNA position
(for ins/del: last normal base / first normal base)		 12857
chromosomal position
(for ins/del: last normal base / first normal base)		 1807890
original gDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGTGAGCCCGG
altered gDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGTGAGCCCGG
original cDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGGCCGGCTGC
altered cDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGGCCGGCTGC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKM TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
speed 0.65 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: 0.999999998370595 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074175)
  • known disease mutation at this position (HGMD CM990596)
  • known disease mutation at this position (HGMD CX140380)
  • known disease mutation: rs16341 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807890A>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000412135
Genbank transcript ID NM_022965
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.1613A>T
cDNA.1869A>T
g.12857A>T
AA changes K538M Score: 95 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 538
frameshift no
known variant Reference ID: rs121913105
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16341 (pathogenic for SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS|Thanatophoric dysplasia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
known disease mutation at this position, please check HGMD for details (HGMD ID CX140380)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074175)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990596)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6221
3.0711
(flanking)1.8771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12854wt: 0.6747 / mu: 0.7157 (marginal change - not scored)wt: GCACAACCTCGACTACTACAAGAAGACGACCAACGTGAGCC
mu: GCACAACCTCGACTACTACAAGATGACGACCAACGTGAGCC		 acaa|GAAG
Donor marginally increased12862wt: 0.9798 / mu: 0.9799 (marginal change - not scored)wt: AGACGACCAACGTGA
mu: TGACGACCAACGTGA		 ACGA|ccaa
Donor marginally increased12855wt: 0.8322 / mu: 0.8757 (marginal change - not scored)wt: TACAAGAAGACGACC
mu: TACAAGATGACGACC		 CAAG|aaga
Donor marginally increased12849wt: 0.8895 / mu: 0.9157 (marginal change - not scored)wt: GACTACTACAAGAAG
mu: GACTACTACAAGATG		 CTAC|taca
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      538ARDVHNLDYYKKTTNGRLPVKWMA
mutated  not conserved    538ARDVHNLDYYKMTT
Ptroglodytes  all identical  ENSPTRG00000015836  649ARDVHNLDYYKKTTNGRLPVKWM
Mmulatta  all identical  ENSMMUG00000019945  652ARDVHNLDYYKKTTNGRLPVKWM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  646ARDVHNLDYYKKTTNGRLPVKWM
Ggallus  all identical  ENSGALG00000015708  649ARDVHNIDYYKKTTNGRLPVKWM
Trubripes  all identical  ENSTRUG00000003670  609ARDVHNIDYYKKTTNGRLPVKWM
Drerio  all identical  ENSDARG00000004782  642ARDVHNIDYYKKTTNGRLPVKWM
Dmelanogaster  all identical  FBgn0010389  589ARDIQSTDYYRKNTNGRLPIKWM
Celegans  all identical  F58A3.2  830SRDVHCNDYYRLKRGNGRLPIKWM
Xtropicalis  all identical  ENSXETG00000002396  666ARDIHNIDYYKKTTNGRLPVKWM
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2085 / 2085
position (AA) of stopcodon in wt / mu AA sequence 695 / 695
position of stopcodon in wt / mu cDNA 2341 / 2341
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 257 / 257
chromosome 4
strand 1
last intron/exon boundary 2195
theoretical NMD boundary in CDS 1888
length of CDS 2085
coding sequence (CDS) position 1613
cDNA position
(for ins/del: last normal base / first normal base)		 1869
gDNA position
(for ins/del: last normal base / first normal base)		 12857
chromosomal position
(for ins/del: last normal base / first normal base)		 1807890
original gDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGTGAGCCCGG
altered gDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGTGAGCCCGG
original cDNA sequence snippet CAACCTCGACTACTACAAGAAGACGACCAACGGCCGGCTGC
altered cDNA sequence snippet CAACCTCGACTACTACAAGATGACGACCAACGGCCGGCTGC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKMTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
speed 0.77 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