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 5.475785 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FGFR3disease_causing_automatic0.999999999640219simple_aaeaffected0R622Hsingle base exchangers121913113show file
FGFR3disease_causing_automatic0.999999999640219simple_aaeaffected0R621Hsingle base exchangers121913113show file
FGFR3disease_causing_automatic0.999999999640219simple_aaeaffected0R509Hsingle base exchangers121913113show file
FGFR3disease_causing_automatic0.999999999640219simple_aaeaffected0R623Hsingle base exchangers121913113show file
FGFR3disease_causing_automatic0.999999999640219simple_aaeaffected0R509Hsingle base exchangers121913113show file
FGFR3disease_causing_automatic0.999999999640219simple_aaeaffected0R621Hsingle base exchangers121913113show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999640219 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM065183)
  • known disease mutation: rs16355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807803G>AN/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.1865G>A
cDNA.2126G>A
g.12770G>A
AA changes R622H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 622
frameshift no
known variant Reference ID: rs121913113
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16355 (pathogenic for Craniosynostosis syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)

known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9441
5.531
(flanking)-1.1040.47
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12773wt: 0.21 / mu: 0.28wt: CAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGGACA
mu: CAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGGACA		 gcaa|TGTG
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      622SQKCIHRDLAARNVLVTEDNVMKI
mutated  not conserved    622SQKCIHRDLAAHNVLVTEDNVMK
Ptroglodytes  all identical  ENSPTRG00000015836  620SQKCIHRDLAARNVLVTEDNVMK
Mmulatta  all identical  ENSMMUG00000019945  623SQKCIHRDLAARNVLVTEDNVMK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  617SQKCIHRDLAARNVLVTEDNVMK
Ggallus  all identical  ENSGALG00000015708  620SQKCIHRDLAARNVLVTEDNVMK
Trubripes  all identical  ENSTRUG00000003670  580SQKCIHRDLAARNVLVTDDNVMK
Drerio  all identical  ENSDARG00000004782  613SKKCIHRDLAARNVLVTEDNVMK
Dmelanogaster  all identical  FBgn0010389  559SRRCIHRDLAARNVLVSDDYVLK
Celegans  all identical  F58A3.2  801SKKIIHRDLAARNVLVGDGHVLK
Xtropicalis  all identical  ENSXETG00000002396  637SQKCIHRDLAARNVLVTDDNVMK
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
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 1865
cDNA position
(for ins/del: last normal base / first normal base)		 2126
gDNA position
(for ins/del: last normal base / first normal base)		 12770
chromosomal position
(for ins/del: last normal base / first normal base)		 1807803
original gDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered gDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
original cDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered cDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
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 AHNVLVTEDN VMKIADFGLA RDVHNLDYYK KTTNLVLWGP
ALGDLHAGGL PVPRHPCGGA LQAAEGGPPH GQARQLHTRP VHDHAGVLAC RALPEAHLQA
AGGGPGPCPY RDVHRRVPGP VGAFRAVLPG WPGHPQLQLL RGRLRVCPRP AAPGPTQQWG
LADVKGHWSP TM*
speed 0.87 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: 0.999999999640219 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM065183)
  • known disease mutation: rs16355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807803G>AN/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.1862G>A
cDNA.1964G>A
g.12770G>A
AA changes R621H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 621
frameshift no
known variant Reference ID: rs121913113
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16355 (pathogenic for Craniosynostosis syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)

known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9441
5.531
(flanking)-1.1040.47
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12773wt: 0.21 / mu: 0.28wt: CAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGGACA
mu: CAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGGACA		 gcaa|TGTG
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      621SQKCIHRDLAARNVLVTEDNVMKI
mutated  not conserved    621SQKCIHRDLAAHNVLVTEDNVMK
Ptroglodytes  all identical  ENSPTRG00000015836  620SQKCIHRDLAARNVLVTEDNVMK
Mmulatta  all identical  ENSMMUG00000019945  623SQKCIHRDLAARNVLVTEDNVMK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  617SQKCIHRDLAARNVLVTEDNVMK
Ggallus  all identical  ENSGALG00000015708  620SQKCIHRDLAARNVLVTEDNVMK
Trubripes  all identical  ENSTRUG00000003670  580SQKCIHRDLAARNVLVTDDNVMK
Drerio  all identical  ENSDARG00000004782  613SKKCIHRDLAARNVLVTEDNVMK
Dmelanogaster  all identical  FBgn0010389  559SRRCIHRDLAARNVLVSDDYVLK
Celegans  all identical  F58A3.2  801SKKIIHRDLAARNVLVGDGHVLK
Xtropicalis  all identical  ENSXETG00000002396  637SQKCIHRDLAARNVLVTDDNVMK
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
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 1862
cDNA position
(for ins/del: last normal base / first normal base)		 1964
gDNA position
(for ins/del: last normal base / first normal base)		 12770
chromosomal position
(for ins/del: last normal base / first normal base)		 1807803
original gDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered gDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
original cDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered cDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
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 HNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
speed 1.09 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: 0.999999999640219 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM065183)
  • known disease mutation: rs16355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807803G>AN/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.1526G>A
cDNA.1565G>A
g.12770G>A
AA changes R509H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 509
frameshift no
known variant Reference ID: rs121913113
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16355 (pathogenic for Craniosynostosis syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)

known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9441
5.531
(flanking)-1.1040.47
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12773wt: 0.21 / mu: 0.28wt: CAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGGACA
mu: CAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGGACA		 gcaa|TGTG
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      509SQKCIHRDLAARNVLVTEDNVMKI
mutated  not conserved    509SQKCIHRDLAAHNVLVTEDNVMK
Ptroglodytes  all identical  ENSPTRG00000015836  620SQKCIHRDLAARNVL
Mmulatta  all identical  ENSMMUG00000019945  623DLAARNVLVTEDNVMK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  617SQKCIHRDLAARNVLVTEDNVMK
Ggallus  all identical  ENSGALG00000015708  620DLAARNVLVTEDNVMK
Trubripes  all identical  ENSTRUG00000003670  580DLAARNVLVTDDNVMK
Drerio  all identical  ENSDARG00000004782  613HRDLAARNVLVTEDNVMK
Dmelanogaster  all identical  FBgn0010389  560IHRDLAARNVLVSDDYVLK
Celegans  all identical  F58A3.2  801DLAARNVLVGDGHVLK
Xtropicalis  all identical  ENSXETG00000002396  637SQKCIHRDLAARNVL
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
577577MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
617617ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
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 1526
cDNA position
(for ins/del: last normal base / first normal base)		 1565
gDNA position
(for ins/del: last normal base / first normal base)		 12770
chromosomal position
(for ins/del: last normal base / first normal base)		 1807803
original gDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered gDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
original cDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered cDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
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 CIHRDLAAHN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
speed 0.97 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: 0.999999999640219 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM065183)
  • known disease mutation: rs16355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807803G>AN/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.1868G>A
cDNA.2124G>A
g.12770G>A
AA changes R623H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 623
frameshift no
known variant Reference ID: rs121913113
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16355 (pathogenic for Craniosynostosis syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)

known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9441
5.531
(flanking)-1.1040.47
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12773wt: 0.21 / mu: 0.28wt: CAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGGACA
mu: CAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGGACA		 gcaa|TGTG
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      623SQKCIHRDLAARNVLVTEDNVMKI
mutated  not conserved    623SQKCIHRDLAAHNVLVTEDNVMK
Ptroglodytes  all identical  ENSPTRG00000015836  620SQKCIHRDLAARNVLVTEDNVMK
Mmulatta  all identical  ENSMMUG00000019945  623SQKCIHRDLAARNVLVTEDNVMK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  617SQKCIHRDLAARNVLVTEDNVMK
Ggallus  all identical  ENSGALG00000015708  620SQKCIHRDLAARNVLVTEDNVMK
Trubripes  all identical  ENSTRUG00000003670  580SQKCIHRDLAARNVLVTDDNVMK
Drerio  all identical  ENSDARG00000004782  613SKKCIHRDLAARNVLVTEDNVMK
Dmelanogaster  all identical  FBgn0010389  558SRRCIHRDLAARNVLVSDDYVLK
Celegans  all identical  F58A3.2  801SKKIIHRDLAARNVLVGDGHVLK
Xtropicalis  all identical  ENSXETG00000002396  637SQKCIHRDLAARNVLVTDDNVMK
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
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 1868
cDNA position
(for ins/del: last normal base / first normal base)		 2124
gDNA position
(for ins/del: last normal base / first normal base)		 12770
chromosomal position
(for ins/del: last normal base / first normal base)		 1807803
original gDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered gDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
original cDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered cDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
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 AAHNVLVTED NVMKIADFGL ARDVHNLDYY KKTTNGRLPV
KWMAPEALFD RVYTHQSDVW SFGVLLWEIF TLGGSPYPGI PVEELFKLLK EGHRMDKPAN
CTHDLYMIMR ECWHAAPSQR PTFKQLVEDL DRVLTVTSTD EYLDLSAPFE QYSPGGQDTP
SSSSSGDDSV FAHDLLPPAP PSSGGSRT*
speed 1.09 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: 0.999999999640219 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM065183)
  • known disease mutation: rs16355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807803G>AN/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.1526G>A
cDNA.1782G>A
g.12770G>A
AA changes R509H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 509
frameshift no
known variant Reference ID: rs121913113
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16355 (pathogenic for Craniosynostosis syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)

known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9441
5.531
(flanking)-1.1040.47
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12773wt: 0.21 / mu: 0.28wt: CAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGGACA
mu: CAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGGACA		 gcaa|TGTG
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      509SQKCIHRDLAARNVLVTEDNVMKI
mutated  not conserved    509SQKCIHRDLAAHNVLVTEDNVMK
Ptroglodytes  all identical  ENSPTRG00000015836  620SQKCIHRDLAARNVL
Mmulatta  all identical  ENSMMUG00000019945  623DLAARNVLVTEDNVMK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  617SQKCIHRDLAARNVLVTEDNVMK
Ggallus  all identical  ENSGALG00000015708  620DLAARNVLVTEDNVMK
Trubripes  all identical  ENSTRUG00000003670  580DLAARNVLVTDDNVMK
Drerio  all identical  ENSDARG00000004782  613HRDLAARNVLVTEDNVMK
Dmelanogaster  all identical  FBgn0010389  560IHRDLAARNVLVSDDYVLK
Celegans  all identical  F58A3.2  801DLAARNVLVGDGHVLK
Xtropicalis  all identical  ENSXETG00000002396  637SQKCIHRDLAARNVL
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
577577MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
617617ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
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 1526
cDNA position
(for ins/del: last normal base / first normal base)		 1782
gDNA position
(for ins/del: last normal base / first normal base)		 12770
chromosomal position
(for ins/del: last normal base / first normal base)		 1807803
original gDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered gDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
original cDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered cDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
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 CIHRDLAAHN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
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: 0.999999999640219 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM065183)
  • known disease mutation: rs16355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807803G>AN/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.1862G>A
cDNA.2118G>A
g.12770G>A
AA changes R621H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 621
frameshift no
known variant Reference ID: rs121913113
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16355 (pathogenic for Craniosynostosis syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)

known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9441
5.531
(flanking)-1.1040.47
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12773wt: 0.21 / mu: 0.28wt: CAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGGACA
mu: CAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGGACA		 gcaa|TGTG
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      621SQKCIHRDLAARNVLVTEDNVMKI
mutated  not conserved    621SQKCIHRDLAAHNVLVTEDNVMK
Ptroglodytes  all identical  ENSPTRG00000015836  620SQKCIHRDLAARNVLVTEDNVMK
Mmulatta  all identical  ENSMMUG00000019945  623SQKCIHRDLAARNVLVTEDNVMK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  617SQKCIHRDLAARNVLVTEDNVMK
Ggallus  all identical  ENSGALG00000015708  620SQKCIHRDLAARNVLVTEDNVMK
Trubripes  all identical  ENSTRUG00000003670  580SQKCIHRDLAARNVLVTDDNVMK
Drerio  all identical  ENSDARG00000004782  613SKKCIHRDLAARNVLVTEDNVMK
Dmelanogaster  all identical  FBgn0010389  559SRRCIHRDLAARNVLVSDDYVLK
Celegans  all identical  F58A3.2  801SKKIIHRDLAARNVLVGDGHVLK
Xtropicalis  all identical  ENSXETG00000002396  637SQKCIHRDLAARNVLVTDDNVMK
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
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 1862
cDNA position
(for ins/del: last normal base / first normal base)		 2118
gDNA position
(for ins/del: last normal base / first normal base)		 12770
chromosomal position
(for ins/del: last normal base / first normal base)		 1807803
original gDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered gDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
original cDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered cDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
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 HNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
speed 1.29 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