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 8.131934 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FGFR2disease_causing_automatic0.999999999917779simple_aae0Y375Csingle base exchangers121913478show file
FGFR2disease_causing_automatic0.999999999917779simple_aae0Y375Csingle base exchangers121913478show file
FGFR2disease_causing_automatic0.999999999917779simple_aae0Y375Csingle base exchangers121913478show file
FGFR2disease_causing_automatic0.999999999950487simple_aae0Y260Csingle base exchangers121913478show file
FGFR2disease_causing_automatic0.999999999950487simple_aae0Y286Csingle base exchangers121913478show file
FGFR2disease_causing_automatic0.999999999950487simple_aae0Y263Csingle base exchangers121913478show file
FGFR2disease_causing_automatic0.999999999954146simple_aae0Y376Csingle base exchangers121913478show file
FGFR2disease_causing_automatic0.999999999954146simple_aae0Y376Csingle base exchangers121913478show file
FGFR2disease_causing_automatic0.999999999972387simple_aae0Y261Csingle base exchangers121913478show file
FGFR2disease_causing_automatic0.999999999993903simple_aae0Y287Csingle base exchangers121913478show file
FGFR2disease_causing_automatic1without_aae0single base exchangers121913478show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999917779 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/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.1124A>G
cDNA.1397A>G
g.83179A>G
AA changes Y375C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 375
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      375GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    375GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  373GREKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  222GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  394VREKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  382EKEKEFPTSPDYLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  373-RETSIEESHGPLSPHYVEIAIYCAGVF
Drerio  all identical  ENSDARG00000058115  398DYPPDYVEIAIYCIGVF
Dmelanogaster  not conserved  FBgn0010389  305HVLEAGVASGSLHSTSFVYIFVFGG
Celegans  all identical  F58A3.2  518GDEPKIDRWTTSDYIFTTILLF--L
Xtropicalis  all identical  ENSXETG00000015592  387VSPGEDNPVPYYMEIGIYSAGIF
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 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 1124
cDNA position
(for ins/del: last normal base / first normal base)		 1397
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDCLEIAI 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 0.56 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: 0.999999999917779 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/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.1124A>G
cDNA.1136A>G
g.83179A>G
AA changes Y375C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 375
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      375GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    375GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  373GREKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  222GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  394VREKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  382EKEKEFPTSPDYLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  373-RETSIEESHGPLSPHYVEIAIYCAGVF
Drerio  all identical  ENSDARG00000058115  398DYPPDYVEIAIYCIGVF
Dmelanogaster  not conserved  FBgn0010389  305HVLEAGVASGSLHSTSFVYIFVFGG
Celegans  all identical  F58A3.2  518GDEPKIDRWTTSDYIFTTILLF--L
Xtropicalis  all identical  ENSXETG00000015592  387VSPGEDNPVPYYMEIGIYSAGIF
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 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 1124
cDNA position
(for ins/del: last normal base / first normal base)		 1136
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDCLEIAI 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 1.19 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: 0.999999999917779 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/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.1124A>G
cDNA.1771A>G
g.83179A>G
AA changes Y375C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 375
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      375GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    375GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  373GREKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  222GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  394VREKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  382EKEKEFPTSPDYLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  373-RETSIEESHGPLSPHYVEIAIYCAGVF
Drerio  all identical  ENSDARG00000058115  398DYPPDYVEIAIYCIGVF
Dmelanogaster  not conserved  FBgn0010389  305HVLEAGVASGSLHSTSFVYIFVFGG
Celegans  all identical  F58A3.2  518GDEPKIDRWTTSDYIFTTILLF--L
Xtropicalis  all identical  ENSXETG00000015592  387VSPGEDNPVPYYMEIGIYSAGIF
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 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 1124
cDNA position
(for ins/del: last normal base / first normal base)		 1771
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDCLEIAI 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 1.22 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: 0.999999999950487 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/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.779A>G
cDNA.1426A>G
g.83179A>G
AA changes Y260C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 260
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      260GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    260GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  373GREKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  222GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  394VREKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  382EKEKEFPTSPDYLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  373-RETSIEESHGPLSPHYVEIAIYCAGVF
Drerio  all identical  ENSDARG00000058115  398TNPIETDYPPDYVEIAIYCIGVF
Dmelanogaster  not conserved  FBgn0010389  306HVLEAGVASGSLHSTSFVYIF
Celegans  all identical  F58A3.2  524IDRWTTSDYIFTTILLF--L
Xtropicalis  all identical  ENSXETG00000015592  387VSPGEDNPVPYYMEIGIYSAGIF
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.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 779
cDNA position
(for ins/del: last normal base / first normal base)		 1426
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 DAGEYTCLAG NSIGISFHSA
WLTVLPAPGR EKEITASPDC 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 1.18 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999950487 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/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.857A>G
cDNA.1176A>G
g.83179A>G
AA changes Y286C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 286
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      286GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    286GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  376GREKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  222GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  394EKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  382EKEKEFPTSPDYLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  371RETSIEESHGPLSPHYVEIAIYCAGVF
Drerio  all identical  ENSDARG00000058115  398TNPIETDYPPDYVEIAIYCIGVF
Dmelanogaster  not conserved  FBgn0010389  305VLEAGVASGSLHSTSFVYIFVFGG
Celegans  all identical  F58A3.2  518GDEPKIDRWTTSDYIFTTILL
Xtropicalis  all identical  ENSXETG00000015592  387PGEDNPVPYYMEIGIYSAGIF
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.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 857
cDNA position
(for ins/del: last normal base / first normal base)		 1176
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 YTCLAGNSIG ISFHSAWLTV LPAPGREKEI TASPDCLEIA 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 0.77 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999950487 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000369061
Genbank transcript ID NM_001144914
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.788A>G
cDNA.938A>G
g.83179A>G
AA changes Y263C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 263
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      263GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    263GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  372GREKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  221GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  393VREKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  382YLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  366ERETSIEESHGPLSPHYV
Drerio  all identical  ENSDARG00000058115  396TNPIETDYPPDYVEIAIYCIGVF
Dmelanogaster  not conserved  FBgn0010389  304LHVLEAGVASGSLHSTSFVYIFVFGGL
Celegans  all identical  F58A3.2  524EPKIDRWTTSDYIFTTILLF--L
Xtropicalis  all identical  ENSXETG00000015592  386GEDNPV---PYYMEIGIYSAGIF
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2130 / 2130
position (AA) of stopcodon in wt / mu AA sequence 710 / 710
position of stopcodon in wt / mu cDNA 2280 / 2280
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 788
cDNA position
(for ins/del: last normal base / first normal base)		 938
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 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 PDCLEIAIYC 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*
speed 0.50 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: 0.999999999954146 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000457416
Genbank transcript ID NM_022970
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.1127A>G
cDNA.1719A>G
g.83179A>G
AA changes Y376C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 376
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      376GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    376GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  376GREKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  225GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  397VREKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  385EKEKEFPTSPDYLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  376IEESHGPLSPHYVEIAIYCAGVF
Drerio  all identical  ENSDARG00000058115  398IETDYPPDYVEIAIYCIGVF
Dmelanogaster  all conserved  FBgn0010389  308GVASGSLHSTSFVYIFVFG-GLI
Celegans  all identical  F58A3.2  521GDEPKIDRWTTSDYIFTTILLF--L
Xtropicalis  all identical  ENSXETG00000015592  390GEDNPV---PYYMEIGIYSAGIF
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 2469 / 2469
position (AA) of stopcodon in wt / mu AA sequence 823 / 823
position of stopcodon in wt / mu cDNA 3061 / 3061
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 1127
cDNA position
(for ins/del: last normal base / first normal base)		 1719
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 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 TASPDCLEIA 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*
speed 1.01 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999954146 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000369056
Genbank transcript ID NM_001144913
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.1127A>G
cDNA.1151A>G
g.83179A>G
AA changes Y376C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 376
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      376GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    376GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  376GREKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  225GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  397VREKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  385EKEKEFPTSPDYLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  376IEESHGPLSPHYVEIAIYCAGVF
Drerio  all identical  ENSDARG00000058115  398IETDYPPDYVEIAIYCIGVF
Dmelanogaster  all conserved  FBgn0010389  308GVASGSLHSTSFVYIFVFG-GLI
Celegans  all identical  F58A3.2  521GDEPKIDRWTTSDYIFTTILLF--L
Xtropicalis  all identical  ENSXETG00000015592  390GEDNPV---PYYMEIGIYSAGIF
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 2310 / 2310
position (AA) of stopcodon in wt / mu AA sequence 770 / 770
position of stopcodon in wt / mu cDNA 2334 / 2334
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 1127
cDNA position
(for ins/del: last normal base / first normal base)		 1151
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 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 TASPDCLEIA 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*
speed 1.07 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: 0.999999999972387 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000369059
Genbank transcript ID N/A
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.782A>G
cDNA.1423A>G
g.83179A>G
AA changes Y261C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 261
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      261GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    261GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  376GREKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  225GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  397VREKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  385EKEKEFPTSPDYLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  376IEESHGPLSPHYVEIAIYCAGVF
Drerio  all identical  ENSDARG00000058115  401---IETDYPPDYVEIAIYCIGVF
Dmelanogaster  all conserved  FBgn0010389  308GVASGSLHSTSFVYIFVF
Celegans  all identical  F58A3.2  524DEPKIDRWTTSDYIFTTILLF--L
Xtropicalis  all identical  ENSXETG00000015592  390GEDNPV---PYYMEIGIYSAGIF
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.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 2765 / 2765
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 782
cDNA position
(for ins/del: last normal base / first normal base)		 1423
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 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 CLEIAIYCIG 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*
speed 1.08 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999993903 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960653)
  • known disease mutation: rs13277 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000360144
Genbank transcript ID NM_001144919
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.860A>G
cDNA.1481A>G
g.83179A>G
AA changes Y287C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 287
frameshift no
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      287GREKEITASPDYLEIAIYCIGVFL
mutated  not conserved    287GREKEITASPDCLEIAIYCIGVF
Ptroglodytes  all identical  ENSPTRG00000003003  376REKEITASPDYLEIAIYCIGVF
Mmulatta  all identical  ENSMMUG00000009594  225GREKEITASPDYLEIAIYCIGVF
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  394VREKEITASPDYLEIAIYCIGVF
Ggallus  all identical  ENSGALG00000009495  383EKEKEFPTSPDYLEIAIYCIGVF
Trubripes  all identical  ENSTRUG00000017610  376IEESHGPLSPHYVEIAIYCAGVF
Drerio  all identical  ENSDARG00000058115  401---IETDYPPDYVEIAIYCIGVF
Dmelanogaster  all conserved  FBgn0010389  309GVASGSLHSTSFVYIFVFG-GLI
Celegans  all identical  F58A3.2  521GDEPKIDRWTTSDYIFT
Xtropicalis  all identical  ENSXETG00000015592  390GEDNPV---PYYMEIGIYSAGIF
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
287293STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2043 / 2043
position (AA) of stopcodon in wt / mu AA sequence 681 / 681
position of stopcodon in wt / mu cDNA 2664 / 2664
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 860
cDNA position
(for ins/del: last normal base / first normal base)		 1481
gDNA position
(for ins/del: last normal base / first normal base)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
original cDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered cDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 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 ITASPDCLEI 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 *
speed 0.52 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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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 CM960653)
  • known disease mutation: rs13277 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123274794T>CN/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.83179A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960653)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5221
5.1651
(flanking)5.1651
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 4699
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)		 83179
chromosomal position
(for ins/del: last normal base / first normal base)		 123274794
original gDNA sequence snippet GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT
altered gDNA sequence snippet GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT
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 0.40 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