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 11 transcript(s)...
Querying Taster for transcript #1: ENST00000358487
Querying Taster for transcript #2: ENST00000356226
Querying Taster for transcript #3: ENST00000369060
Querying Taster for transcript #4: ENST00000369059
Querying Taster for transcript #5: ENST00000346997
Querying Taster for transcript #6: ENST00000457416
Querying Taster for transcript #7: ENST00000360144
Querying Taster for transcript #8: ENST00000369056
Querying Taster for transcript #9: ENST00000357555
Querying Taster for transcript #10: ENST00000369061
Querying Taster for transcript #11: ENST00000351936
MT speed 0 s - this script 6.750598 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FGFR2disease_causing_automatic0.999998942322504simple_aae0T252Psingle base exchangers121918495show file
FGFR2disease_causing_automatic0.999999363074199simple_aae0T226Psingle base exchangers121918495show file
FGFR2disease_causing_automatic0.999999859369703simple_aae0T341Psingle base exchangers121918495show file
FGFR2disease_causing_automatic0.999999859369703simple_aae0T341Psingle base exchangers121918495show file
FGFR2disease_causing_automatic0.999999859369703simple_aae0T341Psingle base exchangers121918495show file
FGFR2disease_causing_automatic1without_aae0single base exchangers121918495show file
FGFR2disease_causing_automatic1without_aae0single base exchangers121918495show file
FGFR2disease_causing_automatic1without_aae0single base exchangers121918495show file
FGFR2disease_causing_automatic1without_aae0single base exchangers121918495show file
FGFR2disease_causing_automatic1without_aae0single base exchangers121918495show file
FGFR2disease_causing_automatic1without_aae0single base exchangers121918495show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999998942322504 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000357555
Genbank transcript ID NM_001144915
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.754A>C
cDNA.1073A>C
g.81077A>C
AA changes T252P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 252
frameshift no
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      252RNVTFEDAGEYTCLAGNSIGISFH
mutated  not conserved    252RNVTFEDAGEYPCLAGNSIGISF
Ptroglodytes  not conserved  ENSPTRG00000003003  341-NVTEADAGEYICKVSNYIGQAN
Mmulatta  not conserved  ENSMMUG00000009594  188TEADAGEYICKVSNYIGQAN
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  360RNVTFEDAGEYTCLAGNSIGISF
Ggallus  all identical  ENSGALG00000009495  348RNVTFEDAGEYTCLAGNSIGISF
Trubripes  not conserved  ENSTRUG00000017610  341TNVTEEDAGEYICKVSNYIGEAS
Drerio  all identical  ENSDARG00000058115  364PNVTFEDAGEYTCLAGNSIGISY
Dmelanogaster  all identical  FBgn0010389  276VNVRMEQEGWYTCVESNSLGQSN
Celegans  not conserved  F58A3.2  484NVSLDDQGIYACLSGNSLGMSM
Xtropicalis  all identical  ENSXETG00000015592  353RNVSFEDAGEYTCIAGNSIGISQ
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2124 / 2124
position (AA) of stopcodon in wt / mu AA sequence 708 / 708
position of stopcodon in wt / mu cDNA 2443 / 2443
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 320 / 320
chromosome 10
strand -1
last intron/exon boundary 2354
theoretical NMD boundary in CDS 1984
length of CDS 2124
coding sequence (CDS) position 754
cDNA position
(for ins/del: last normal base / first normal base)		 1073
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered cDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKAAGVNT TDKEIEVLYI
RNVTFEDAGE YTCLAGNSIG ISFHSAWLTV LPAPGREKEI TASPDYLEIA IYCIGVFLIA
CMVVTVILCR MKNTTKKPDF SSQPAVHKLT KRIPLRRQVT VSAESSSSMN SNTPLVRITT
RLSSTADTPM LAGVSEYELP EDPKWEFPRD KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK
EAVTVAVKML KDDATEKDLS DLVSEMEMMK MIGKHKNIIN LLGACTQDGP LYVIVEYASK
GNLREYLRAR RPPGMEYSYD INRVPEEQMT FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA
RNVLVTENNV MKIADFGLAR DINNIDYYKK TTNGRLPVKW MAPEALFDRV YTHQSDVWSF
GVLMWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT NELYMMMRDC WHAVPSQRPT
FKQLVEDLDR ILTLTTNEEE KKVSGAVDCH KPPCNPSHLP CVLAVDQ*
mutated AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKAAGVNT TDKEIEVLYI
RNVTFEDAGE YPCLAGNSIG ISFHSAWLTV LPAPGREKEI TASPDYLEIA IYCIGVFLIA
CMVVTVILCR MKNTTKKPDF SSQPAVHKLT KRIPLRRQVT VSAESSSSMN SNTPLVRITT
RLSSTADTPM LAGVSEYELP EDPKWEFPRD KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK
EAVTVAVKML KDDATEKDLS DLVSEMEMMK MIGKHKNIIN LLGACTQDGP LYVIVEYASK
GNLREYLRAR RPPGMEYSYD INRVPEEQMT FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA
RNVLVTENNV MKIADFGLAR DINNIDYYKK TTNGRLPVKW MAPEALFDRV YTHQSDVWSF
GVLMWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT NELYMMMRDC WHAVPSQRPT
FKQLVEDLDR ILTLTTNEEE KKVSGAVDCH KPPCNPSHLP CVLAVDQ*
speed 0.86 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: 0.999999363074199 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000356226
Genbank transcript ID NM_001144918
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.676A>C
cDNA.1323A>C
g.81077A>C
AA changes T226P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 226
frameshift no
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      226RNVTFEDAGEYTCLAGNSIGISFH
mutated  not conserved    226RNVTFEDAGEYPCLAGNSIGISF
Ptroglodytes  not conserved  ENSPTRG00000003003  339TEADAGEYICKVSNYIGQAN
Mmulatta  not conserved  ENSMMUG00000009594  188VTEADAGEYICKVSNYIGQAN
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  360TFEDAGEYTCLAGNSIGISF
Ggallus  all identical  ENSGALG00000009495  348NVTFEDAGEYTCLAGNSIGISF
Trubripes  not conserved  ENSTRUG00000017610  339VTEEDAGEYICKVSNYIGEAS
Drerio  all identical  ENSDARG00000058115  364FEDAGEYTCLAGNSIGISY
Dmelanogaster  all identical  FBgn0010389  272VNVRMEQEGWYTCVESNSLGQSN
Celegans  not conserved  F58A3.2  477FNVSLDDQGIYACLSGNSLGMSM
Xtropicalis  all identical  ENSXETG00000015592  353SFEDAGEYTCIAGNSIGISQ
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
154247DOMAINIg-like C2-type 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2115 / 2115
position (AA) of stopcodon in wt / mu AA sequence 705 / 705
position of stopcodon in wt / mu cDNA 2762 / 2762
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 648 / 648
chromosome 10
strand -1
last intron/exon boundary 2598
theoretical NMD boundary in CDS 1900
length of CDS 2115
coding sequence (CDS) position 676
cDNA position
(for ins/del: last normal base / first normal base)		 1323
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered cDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEGAPY WTNTEKMEKR LHAVPAANTV
KFRCPAGGNP MPTMRWLKNG KEFKQEHRIG GYKVRNQHWS LIMESVVPSD KGNYTCVVEN
EYGSINHTYH LDVVERSPHR PILQAGLPAN ASTVVGGDVE FVCKVYSDAQ PHIQWIKHVE
KNGSKYGPDG LPYLKVLKAA GVNTTDKEIE VLYIRNVTFE DAGEYTCLAG NSIGISFHSA
WLTVLPAPGR EKEITASPDY LEIAIYCIGV FLIACMVVTV ILCRMKNTTK KPDFSSQPAV
HKLTKRIPLR RQVSAESSSS MNSNTPLVRI TTRLSSTADT PMLAGVSEYE LPEDPKWEFP
RDKLTLGKPL GEGCFGQVVM AEAVGIDKDK PKEAVTVAVK MLKDDATEKD LSDLVSEMEM
MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLR ARRPPGMEYS YDINRVPEEQ
MTFKDLVSCT YQLARGMEYL ASQKCIHRDL AARNVLVTEN NVMKIADFGL ARDINNIDYY
KKTTNGRLPV KWMAPEALFD RVYTHQSDVW SFGVLMWEIF TLGGSPYPGI PVEELFKLLK
EGHRMDKPAN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRILTLTTNE EYLDLSQPLE
QYSPSYPDTR SSCSSGDDSV FSPDPMPYEP CLPQYPHING SVKT*
mutated AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEGAPY WTNTEKMEKR LHAVPAANTV
KFRCPAGGNP MPTMRWLKNG KEFKQEHRIG GYKVRNQHWS LIMESVVPSD KGNYTCVVEN
EYGSINHTYH LDVVERSPHR PILQAGLPAN ASTVVGGDVE FVCKVYSDAQ PHIQWIKHVE
KNGSKYGPDG LPYLKVLKAA GVNTTDKEIE VLYIRNVTFE DAGEYPCLAG NSIGISFHSA
WLTVLPAPGR EKEITASPDY LEIAIYCIGV FLIACMVVTV ILCRMKNTTK KPDFSSQPAV
HKLTKRIPLR RQVSAESSSS MNSNTPLVRI TTRLSSTADT PMLAGVSEYE LPEDPKWEFP
RDKLTLGKPL GEGCFGQVVM AEAVGIDKDK PKEAVTVAVK MLKDDATEKD LSDLVSEMEM
MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLR ARRPPGMEYS YDINRVPEEQ
MTFKDLVSCT YQLARGMEYL ASQKCIHRDL AARNVLVTEN NVMKIADFGL ARDINNIDYY
KKTTNGRLPV KWMAPEALFD RVYTHQSDVW SFGVLMWEIF TLGGSPYPGI PVEELFKLLK
EGHRMDKPAN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRILTLTTNE EYLDLSQPLE
QYSPSYPDTR SSCSSGDDSV FSPDPMPYEP CLPQYPHING SVKT*
speed 0.69 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: 0.999999859369703 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000358487
Genbank transcript ID NM_000141
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.1021A>C
cDNA.1294A>C
g.81077A>C
AA changes T341P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 341
frameshift no
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      341RNVTFEDAGEYTCLAGNSIGISFH
mutated  not conserved    341RNVTFEDAGEYPCLAGNSIGISF
Ptroglodytes  not conserved  ENSPTRG00000003003  341-NVTEADAGEYICKVSNYIGQAN
Mmulatta  not conserved  ENSMMUG00000009594  188TEADAGEYICKVSNYIGQAN
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  360RNVTFEDAGEYTCLAGNSIGISF
Ggallus  all identical  ENSGALG00000009495  348RNVTFEDAGEYTCLAGNSIGISF
Trubripes  not conserved  ENSTRUG00000017610  341TNVTEEDAGEYICKVSNYIGEAS
Drerio  all identical  ENSDARG00000058115  364PNVTFEDAGEYTCLAGNSIGISY
Dmelanogaster  all identical  FBgn0010389  282VNVRMEQEGWYTCVESNSLGQSN
Celegans  not conserved  F58A3.2  477FNVSLDDQGIYAC
Xtropicalis  all identical  ENSXETG00000015592  353RNVSFEDAGEYTCIAGNSIGISQ
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
338346STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2466 / 2466
position (AA) of stopcodon in wt / mu AA sequence 822 / 822
position of stopcodon in wt / mu cDNA 2739 / 2739
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 274 / 274
chromosome 10
strand -1
last intron/exon boundary 2575
theoretical NMD boundary in CDS 2251
length of CDS 2466
coding sequence (CDS) position 1021
cDNA position
(for ins/del: last normal base / first normal base)		 1294
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered cDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK
LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM
IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF
KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT
TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH
RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLSQPLEQYS
PSYPDTRSSC SSGDDSVFSP DPMPYEPCLP QYPHINGSVK T*
mutated AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY PCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK
LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM
IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF
KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT
TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH
RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLSQPLEQYS
PSYPDTRSSC SSGDDSVFSP DPMPYEPCLP QYPHINGSVK T*
speed 0.83 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999859369703 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000346997
Genbank transcript ID N/A
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.1021A>C
cDNA.1033A>C
g.81077A>C
AA changes T341P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 341
frameshift no
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      341RNVTFEDAGEYTCLAGNSIGISFH
mutated  not conserved    341RNVTFEDAGEYPCLAGNSIGISF
Ptroglodytes  not conserved  ENSPTRG00000003003  341-NVTEADAGEYICKVSNYIGQAN
Mmulatta  not conserved  ENSMMUG00000009594  188TEADAGEYICKVSNYIGQAN
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  360RNVTFEDAGEYTCLAGNSIGISF
Ggallus  all identical  ENSGALG00000009495  348RNVTFEDAGEYTCLAGNSIGISF
Trubripes  not conserved  ENSTRUG00000017610  341TNVTEEDAGEYICKVSNYIGEAS
Drerio  all identical  ENSDARG00000058115  364PNVTFEDAGEYTCLAGNSIGISY
Dmelanogaster  all identical  FBgn0010389  282VNVRMEQEGWYTCVESNSLGQSN
Celegans  not conserved  F58A3.2  477FNVSLDDQGIYAC
Xtropicalis  all identical  ENSXETG00000015592  353RNVSFEDAGEYTCIAGNSIGISQ
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
338346STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2460 / 2460
position (AA) of stopcodon in wt / mu AA sequence 820 / 820
position of stopcodon in wt / mu cDNA 2472 / 2472
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 13 / 13
chromosome 10
strand -1
last intron/exon boundary 2308
theoretical NMD boundary in CDS 2245
length of CDS 2460
coding sequence (CDS) position 1021
cDNA position
(for ins/del: last normal base / first normal base)		 1033
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered cDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEQYSPS
YPDTRSSCSS GDDSVFSPDP MPYEPCLPQY PHINGSVKT*
mutated AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY PCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEQYSPS
YPDTRSSCSS GDDSVFSPDP MPYEPCLPQY PHINGSVKT*
speed 0.82 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: 0.999999859369703 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000351936
Genbank transcript ID N/A
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.1021A>C
cDNA.1668A>C
g.81077A>C
AA changes T341P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 341
frameshift no
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      341RNVTFEDAGEYTCLAGNSIGISFH
mutated  not conserved    341RNVTFEDAGEYPCLAGNSIGISF
Ptroglodytes  not conserved  ENSPTRG00000003003  341-NVTEADAGEYICKVSNYIGQAN
Mmulatta  not conserved  ENSMMUG00000009594  188TEADAGEYICKVSNYIGQAN
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  360RNVTFEDAGEYTCLAGNSIGISF
Ggallus  all identical  ENSGALG00000009495  348RNVTFEDAGEYTCLAGNSIGISF
Trubripes  not conserved  ENSTRUG00000017610  341TNVTEEDAGEYICKVSNYIGEAS
Drerio  all identical  ENSDARG00000058115  364PNVTFEDAGEYTCLAGNSIGISY
Dmelanogaster  all identical  FBgn0010389  282VNVRMEQEGWYTCVESNSLGQSN
Celegans  not conserved  F58A3.2  477FNVSLDDQGIYAC
Xtropicalis  all identical  ENSXETG00000015592  353RNVSFEDAGEYTCIAGNSIGISQ
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
338346STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2358 / 2358
position (AA) of stopcodon in wt / mu AA sequence 786 / 786
position of stopcodon in wt / mu cDNA 3005 / 3005
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 648 / 648
chromosome 10
strand -1
last intron/exon boundary 2943
theoretical NMD boundary in CDS 2245
length of CDS 2358
coding sequence (CDS) position 1021
cDNA position
(for ins/del: last normal base / first normal base)		 1668
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered cDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEPYSPC
YPDPR*
mutated AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY PCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEPYSPC
YPDPR*
speed 0.78 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000369060
Genbank transcript ID NM_001144917
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.81077A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 2597
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 488 / 488
chromosome 10
strand -1
last intron/exon boundary 2441
theoretical NMD boundary in CDS 1903
length of CDS 2118
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKVSAESSS SMNSNTPLVR ITTRLSSTAD TPMLAGVSEY ELPEDPKWEF
PRDKLTLGKP LGEGCFGQVV MAEAVGIDKD KPKEAVTVAV KMLKDDATEK DLSDLVSEME
MMKMIGKHKN IINLLGACTQ DGPLYVIVEY ASKGNLREYL RARRPPGMEY SYDINRVPEE
QMTFKDLVSC TYQLARGMEY LASQKCIHRD LAARNVLVTE NNVMKIADFG LARDINNIDY
YKKTTNGRLP VKWMAPEALF DRVYTHQSDV WSFGVLMWEI FTLGGSPYPG IPVEELFKLL
KEGHRMDKPA NCTNELYMMM RDCWHAVPSQ RPTFKQLVED LDRILTLTTN EEYLDLSQPL
EQYSPSYPDT RSSCSSGDDS VFSPDPMPYE PCLPQYPHIN GSVKT*
mutated AA sequence N/A
speed 0.61 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000369059
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.81077A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 1300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 642 / 642
chromosome 10
strand -1
last intron/exon boundary 2601
theoretical NMD boundary in CDS 1909
length of CDS 2124
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEGAPY WTNTEKMEKR LHAVPAANTV
KFRCPAGGNP MPTMRWLKNG KEFKQEHRIG GYKVRNQHWS LIMESVVPSD KGNYTCVVEN
EYGSINHTYH LDVVERSPHR PILQAGLPAN ASTVVGGDVE FVCKVYSDAQ PHIQWIKHVE
KNGSKYGPDG LPYLKVLKHS GINSSNAEVL ALFNVTEADA GEYICKVSNY IGQANQSAWL
TVLPKQQAPG REKEITASPD YLEIAIYCIG VFLIACMVVT VILCRMKNTT KKPDFSSQPA
VHKLTKRIPL RRQVTVSAES SSSMNSNTPL VRITTRLSST ADTPMLAGVS EYELPEDPKW
EFPRDKLTLG KPLGEGCFGQ VVMAEAVGID KDKPKEAVTV AVKMLKDDAT EKDLSDLVSE
MEMMKMIGKH KNIINLLGAC TQDGPLYVIV EYASKGNLRE YLRARRPPGM EYSYDINRVP
EEQMTFKDLV SCTYQLARGM EYLASQKCIH RDLAARNVLV TENNVMKIAD FGLARDINNI
DYYKKTTNGR LPVKWMAPEA LFDRVYTHQS DVWSFGVLMW EIFTLGGSPY PGIPVEELFK
LLKEGHRMDK PANCTNELYM MMRDCWHAVP SQRPTFKQLV EDLDRILTLT TNEEYLDLSQ
PLEQYSPSYP DTRSSCSSGD DSVFSPDPMP YEPCLPQYPH INGSVKT*
mutated AA sequence N/A
speed 0.70 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000457416
Genbank transcript ID NM_022970
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.81077A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 1300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 593 / 593
chromosome 10
strand -1
last intron/exon boundary 2897
theoretical NMD boundary in CDS 2254
length of CDS 2469
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK
QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT
KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD
KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK
MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT
FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK
TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG
HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEEY LDLSQPLEQY
SPSYPDTRSS CSSGDDSVFS PDPMPYEPCL PQYPHINGSV KT*
mutated AA sequence N/A
speed 0.59 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000360144
Genbank transcript ID NM_001144919
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.81077A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 1300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 622 / 622
chromosome 10
strand -1
last intron/exon boundary 2659
theoretical NMD boundary in CDS 1987
length of CDS 2043
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKHSGINS SNAEVLALFN
VTEADAGEYI CKVSNYIGQA NQSAWLTVLP KQQAPGREKE ITASPDYLEI AIYCIGVFLI
ACMVVTVILC RMKNTTKKPD FSSQPAVHKL TKRIPLRRQV TVSAESSSSM NSNTPLVRIT
TRLSSTADTP MLAGVSEYEL PEDPKWEFPR DKLTLGKPLG EGCFGQVVMA EAVGIDKDKP
KEAVTVAVKM LKDDATEKDL SDLVSEMEMM KMIGKHKNII NLLGACTQDG PLYVIVEYAS
KGNLREYLRA RRPPGMEYSY DINRVPEEQM TFKDLVSCTY QLARGMEYLA SQKCIHRDLA
ARNVLVTENN VMKIADFGLA RDINNIDYYK KTTNGRLPVK WMAPEALFDR VYTHQSDVWS
FGVLMWEIFT LGGSPYPGIP VEELFKLLKE GHRMDKPANC TNELYMMMRD CWHAVPSQRP
TFKQLVEDLD RILTLTTNEI *
mutated AA sequence N/A
speed 0.76 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000369056
Genbank transcript ID NM_001144913
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.81077A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 1300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 25 / 25
chromosome 10
strand -1
last intron/exon boundary 2329
theoretical NMD boundary in CDS 2254
length of CDS 2310
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK
QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT
KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD
KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK
MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT
FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK
TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG
HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEI*
mutated AA sequence N/A
speed 0.59 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000369061
Genbank transcript ID NM_001144914
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.81077A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 2063
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 151 / 151
chromosome 10
strand -1
last intron/exon boundary 2116
theoretical NMD boundary in CDS 1915
length of CDS 2130
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVA PGREKEITAS PDYLEIAIYC IGVFLIACMV VTVILCRMKN TTKKPDFSSQ
PAVHKLTKRI PLRRQVTVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP
KWEFPRDKLT LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV
SEMEMMKMIG KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR
VPEEQMTFKD LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN
NIDYYKKTTN GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL
FKLLKEGHRM DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL
SQPLEQYSPS YPDTRSSCSS GDDSVFSPDP MPYEPCLPQY PHINGSVKT*
mutated AA sequence N/A
speed 0.74 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems