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 7.640236 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FGFR2disease_causing_automatic0.999999999999647simple_aaeaffected0C253Ysingle base exchangers121918487show file
FGFR2disease_causing_automatic0.999999999999953simple_aaeaffected0C227Ysingle base exchangers121918487show file
FGFR2disease_causing_automatic0.999999999999997simple_aaeaffected0C342Ysingle base exchangers121918487show file
FGFR2disease_causing_automatic0.999999999999997simple_aaeaffected0C342Ysingle base exchangers121918487show file
FGFR2disease_causing_automatic0.999999999999997simple_aaeaffected0C342Ysingle base exchangers121918487show file
FGFR2disease_causing_automatic1without_aaeaffected0single base exchangers121918487show file
FGFR2disease_causing_automatic1without_aaeaffected0single base exchangers121918487show file
FGFR2disease_causing_automatic1without_aaeaffected0single base exchangers121918487show file
FGFR2disease_causing_automatic1without_aaeaffected0single base exchangers121918487show file
FGFR2disease_causing_automatic1without_aaeaffected0single base exchangers121918487show file
FGFR2disease_causing_automatic1without_aaeaffected0single base exchangers121918487show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999647 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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.758G>A
cDNA.1077G>A
g.81081G>A
AA changes C253Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 253
frameshift no
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      253NVTFEDAGEYTCLAGNSIGISFHS
mutated  not conserved    253NVTFEDAGEYTYLAGNSIGISFH
Ptroglodytes  all identical  ENSPTRG00000003003  342NVTEADAGEYICKVSNYIGQANQ
Mmulatta  all identical  ENSMMUG00000009594  189TEADAGEYICKVSNYIGQANQ
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  361NVTFEDAGEYTCLAGNSIGISFH
Ggallus  all identical  ENSGALG00000009495  349NVTFEDAGEYTCLAGNSIGISFH
Trubripes  all identical  ENSTRUG00000017610  342NVTEEDAGEYICKVSNYIGEASQ
Drerio  all identical  ENSDARG00000058115  365NVTFEDAGEYTCLAGNSIGISYH
Dmelanogaster  all identical  FBgn0010389  277NVRMEQEGWYTCVESNSLGQSNS
Celegans  all identical  F58A3.2  485NVSLDDQGIYACLSGNSLGMSMA
Xtropicalis  all identical  ENSXETG00000015592  354NVSFEDAGEYTCIAGNSIGISQH
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
265265CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
265265MUTAGENN->Q: Reduced N-glycosylation. Reduced expression at the cell surface.might get lost (downstream of altered splice site)
266269STRANDmight get lost (downstream of altered splice site)
274277STRANDmight get lost (downstream of altered splice site)
278278DISULFIDmight get lost (downstream of altered splice site)
287293STRANDmight get lost (downstream of altered splice site)
296298STRANDmight get lost (downstream of altered splice site)
297297CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
299301STRANDmight get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
310310CONFLICTK -> N (in Ref. 16; BAG57383).might get lost (downstream of altered splice site)
315319STRANDmight get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
321325TURNmight get lost (downstream of altered splice site)
326329STRANDmight get lost (downstream of altered splice site)
331331CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
338346STRANDmight get lost (downstream of altered splice site)
342342DISULFIDmight get lost (downstream of altered splice site)
349360STRANDmight get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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 758
cDNA position
(for ins/del: last normal base / first normal base)		 1077
gDNA position
(for ins/del: last normal base / first normal base)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
original cDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered cDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 YTYLAGNSIG 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 0.97 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999953 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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.680G>A
cDNA.1327G>A
g.81081G>A
AA changes C227Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 227
frameshift no
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      227NVTFEDAGEYTCLAGNSIGISFHS
mutated  not conserved    227NVTFEDAGEYTYLAGNSIGISFH
Ptroglodytes  all identical  ENSPTRG00000003003  340TEADAGEYICKVSNYIGQANQ
Mmulatta  all identical  ENSMMUG00000009594  189VTEADAGEYICKVSNYIGQANQ
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  361TFEDAGEYTCLAGNSIGISFH
Ggallus  all identical  ENSGALG00000009495  349NVTFEDAGEYTCLAGNSIGISFH
Trubripes  all identical  ENSTRUG00000017610  340VTEEDAGEYICKVSNYIGEASQ
Drerio  all identical  ENSDARG00000058115  365FEDAGEYTCLAGNSIGISYH
Dmelanogaster  all identical  FBgn0010389  273NVRMEQEGWYTCVESNSLGQSNS
Celegans  all identical  F58A3.2  478NVSLDDQGIYACLSGNSLGMSMA
Xtropicalis  all identical  ENSXETG00000015592  354SFEDAGEYTCIAGNSIGISQH
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
154247DOMAINIg-like C2-type 2.lost
227235STRANDlost
228228CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231DISULFIDmight get lost (downstream of altered splice site)
238249STRANDmight get lost (downstream of altered splice site)
241241CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
246246CONFLICTL -> P (in Ref. 16; BAG57383).might get lost (downstream of altered splice site)
256358DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
265265MUTAGENN->Q: Reduced N-glycosylation. Reduced expression at the cell surface.might get lost (downstream of altered splice site)
265265CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
266269STRANDmight get lost (downstream of altered splice site)
274277STRANDmight get lost (downstream of altered splice site)
278278DISULFIDmight get lost (downstream of altered splice site)
287293STRANDmight get lost (downstream of altered splice site)
296298STRANDmight get lost (downstream of altered splice site)
297297CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
299301STRANDmight get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
310310CONFLICTK -> N (in Ref. 16; BAG57383).might get lost (downstream of altered splice site)
315319STRANDmight get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
321325TURNmight get lost (downstream of altered splice site)
326329STRANDmight get lost (downstream of altered splice site)
331331CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
338346STRANDmight get lost (downstream of altered splice site)
342342DISULFIDmight get lost (downstream of altered splice site)
349360STRANDmight get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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 680
cDNA position
(for ins/del: last normal base / first normal base)		 1327
gDNA position
(for ins/del: last normal base / first normal base)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
original cDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered cDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 DAGEYTYLAG 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 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: 0.999999999999997 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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.1025G>A
cDNA.1298G>A
g.81081G>A
AA changes C342Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 342
frameshift no
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      342NVTFEDAGEYTCLAGNSIGISFHS
mutated  not conserved    342NVTFEDAGEYTYLAGNSIGISFH
Ptroglodytes  all identical  ENSPTRG00000003003  342NVTEADAGEYICKVSNYIGQANQ
Mmulatta  all identical  ENSMMUG00000009594  189TEADAGEYICKVSNYIGQANQ
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  361NVTFEDAGEYTCLAGNSIGISFH
Ggallus  all identical  ENSGALG00000009495  349NVTFEDAGEYTCLAGNSIGISF
Trubripes  all identical  ENSTRUG00000017610  342NVTEEDAGEYICKVSNYIGEASQ
Drerio  all identical  ENSDARG00000058115  365NVTFEDAGEYTCLAGNSIGISYH
Dmelanogaster  all identical  FBgn0010389  283NVRMEQEGWYTCVESNSLGQSN
Celegans  all identical  F58A3.2  478NVSLDDQGIYAC
Xtropicalis  all identical  ENSXETG00000015592  354NVSFEDAGEYTCIAGNSIGISQH
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
338346STRANDlost
342342DISULFIDlost
349360STRANDmight get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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 1025
cDNA position
(for ins/del: last normal base / first normal base)		 1298
gDNA position
(for ins/del: last normal base / first normal base)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
original cDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered cDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 TYLAGNSIGI 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 0.96 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: 0.999999999999997 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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.1025G>A
cDNA.1037G>A
g.81081G>A
AA changes C342Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 342
frameshift no
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      342NVTFEDAGEYTCLAGNSIGISFHS
mutated  not conserved    342NVTFEDAGEYTYLAGNSIGISFH
Ptroglodytes  all identical  ENSPTRG00000003003  342NVTEADAGEYICKVSNYIGQANQ
Mmulatta  all identical  ENSMMUG00000009594  189TEADAGEYICKVSNYIGQANQ
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  361NVTFEDAGEYTCLAGNSIGISFH
Ggallus  all identical  ENSGALG00000009495  349NVTFEDAGEYTCLAGNSIGISF
Trubripes  all identical  ENSTRUG00000017610  342NVTEEDAGEYICKVSNYIGEASQ
Drerio  all identical  ENSDARG00000058115  365NVTFEDAGEYTCLAGNSIGISYH
Dmelanogaster  all identical  FBgn0010389  283NVRMEQEGWYTCVESNSLGQSN
Celegans  all identical  F58A3.2  478NVSLDDQGIYAC
Xtropicalis  all identical  ENSXETG00000015592  354NVSFEDAGEYTCIAGNSIGISQH
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
338346STRANDlost
342342DISULFIDlost
349360STRANDmight get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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 1025
cDNA position
(for ins/del: last normal base / first normal base)		 1037
gDNA position
(for ins/del: last normal base / first normal base)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
original cDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered cDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 TYLAGNSIGI 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 0.69 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: 0.999999999999997 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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.1025G>A
cDNA.1672G>A
g.81081G>A
AA changes C342Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 342
frameshift no
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      342NVTFEDAGEYTCLAGNSIGISFHS
mutated  not conserved    342NVTFEDAGEYTYLAGNSIGISFH
Ptroglodytes  all identical  ENSPTRG00000003003  342NVTEADAGEYICKVSNYIGQANQ
Mmulatta  all identical  ENSMMUG00000009594  189TEADAGEYICKVSNYIGQANQ
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  361NVTFEDAGEYTCLAGNSIGISFH
Ggallus  all identical  ENSGALG00000009495  349NVTFEDAGEYTCLAGNSIGISF
Trubripes  all identical  ENSTRUG00000017610  342NVTEEDAGEYICKVSNYIGEASQ
Drerio  all identical  ENSDARG00000058115  365NVTFEDAGEYTCLAGNSIGISYH
Dmelanogaster  all identical  FBgn0010389  283NVRMEQEGWYTCVESNSLGQSN
Celegans  all identical  F58A3.2  478NVSLDDQGIYAC
Xtropicalis  all identical  ENSXETG00000015592  354NVSFEDAGEYTCIAGNSIGISQH
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
338346STRANDlost
342342DISULFIDlost
349360STRANDmight get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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 1025
cDNA position
(for ins/del: last normal base / first normal base)		 1672
gDNA position
(for ins/del: last normal base / first normal base)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
original cDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered cDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 TYLAGNSIGI 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 0.83 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000369060
Genbank transcript ID NM_001144917
UniProt peptide P21802
alteration type single base exchange
alteration region intron
DNA changes g.81081G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 2601
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
256358DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
315319STRANDmight get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
321325TURNmight get lost (downstream of altered splice site)
326329STRANDmight get lost (downstream of altered splice site)
331331CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
338346STRANDmight get lost (downstream of altered splice site)
342342DISULFIDmight get lost (downstream of altered splice site)
349360STRANDmight get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 0.79 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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 intron
DNA changes g.81081G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 1304
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
238249STRANDmight get lost (downstream of altered splice site)
256358DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
265265MUTAGENN->Q: Reduced N-glycosylation. Reduced expression at the cell surface.might get lost (downstream of altered splice site)
265265CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
266269STRANDmight get lost (downstream of altered splice site)
274277STRANDmight get lost (downstream of altered splice site)
278278DISULFIDmight get lost (downstream of altered splice site)
287293STRANDmight get lost (downstream of altered splice site)
296298STRANDmight get lost (downstream of altered splice site)
297297CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
299301STRANDmight get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
310310CONFLICTK -> N (in Ref. 16; BAG57383).might get lost (downstream of altered splice site)
315319STRANDmight get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
321325TURNmight get lost (downstream of altered splice site)
326329STRANDmight get lost (downstream of altered splice site)
331331CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
338346STRANDmight get lost (downstream of altered splice site)
342342DISULFIDmight get lost (downstream of altered splice site)
349360STRANDmight get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 0.87 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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 intron
DNA changes g.81081G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 1304
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 0.94 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 CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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 intron
DNA changes g.81081G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 1304
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
256358DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
274277STRANDmight get lost (downstream of altered splice site)
278278DISULFIDmight get lost (downstream of altered splice site)
287293STRANDmight get lost (downstream of altered splice site)
296298STRANDmight get lost (downstream of altered splice site)
297297CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
299301STRANDmight get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
310310CONFLICTK -> N (in Ref. 16; BAG57383).might get lost (downstream of altered splice site)
315319STRANDmight get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
321325TURNmight get lost (downstream of altered splice site)
326329STRANDmight get lost (downstream of altered splice site)
331331CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
338346STRANDmight get lost (downstream of altered splice site)
342342DISULFIDmight get lost (downstream of altered splice site)
349360STRANDmight get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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 intron
DNA changes g.81081G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 1304
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 0.94 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 CM940779)
  • known disease mutation at this position (HGMD CM960647)
  • known disease mutation at this position (HGMD CM960648)
  • known disease mutation: rs13263 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276892C>TN/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 intron
DNA changes g.81081G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|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|FGFR2 related craniosynostosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5051
6.2681
(flanking)5.1771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81084wt: 0.36 / mu: 0.62wt: GTGCTTGGCGGGTAA
mu: GTACTTGGCGGGTAA		 GCTT|ggcg
Donor marginally increased81073wt: 0.9605 / mu: 0.9630 (marginal change - not scored)wt: GGGGAATATACGTGC
mu: GGGGAATATACGTAC		 GGAA|tata
distance from splice site 2059
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
256358DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
265265CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
265265MUTAGENN->Q: Reduced N-glycosylation. Reduced expression at the cell surface.might get lost (downstream of altered splice site)
266269STRANDmight get lost (downstream of altered splice site)
274277STRANDmight get lost (downstream of altered splice site)
278278DISULFIDmight get lost (downstream of altered splice site)
287293STRANDmight get lost (downstream of altered splice site)
296298STRANDmight get lost (downstream of altered splice site)
297297CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
299301STRANDmight get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
310310CONFLICTK -> N (in Ref. 16; BAG57383).might get lost (downstream of altered splice site)
315319STRANDmight get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
321325TURNmight get lost (downstream of altered splice site)
326329STRANDmight get lost (downstream of altered splice site)
331331CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
338346STRANDmight get lost (downstream of altered splice site)
342342DISULFIDmight get lost (downstream of altered splice site)
349360STRANDmight get lost (downstream of altered splice site)
378398TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
399821TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
448448MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
449449MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
466466MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
478480HELIXmight get lost (downstream of altered splice site)
481489STRANDmight get lost (downstream of altered splice site)
481770DOMAINProtein kinase.might get lost (downstream of altered splice site)
487495NP_BINDATP.might get lost (downstream of altered splice site)
494501STRANDmight get lost (downstream of altered splice site)
504506STRANDmight get lost (downstream of altered splice site)
511518STRANDmight get lost (downstream of altered splice site)
517517BINDINGATP.might get lost (downstream of altered splice site)
525541HELIXmight get lost (downstream of altered splice site)
549549MUTAGENN->T: Constitutive kinase activity.might get lost (downstream of altered splice site)
550554STRANDmight get lost (downstream of altered splice site)
556558STRANDmight get lost (downstream of altered splice site)
561565STRANDmight get lost (downstream of altered splice site)
565565MUTAGENE->A: Constitutive kinase activity.might get lost (downstream of altered splice site)
565567NP_BINDATP.might get lost (downstream of altered splice site)
568571STRANDmight get lost (downstream of altered splice site)
571571BINDINGATP.might get lost (downstream of altered splice site)
572577HELIXmight get lost (downstream of altered splice site)
586586MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
588588MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
600619HELIXmight get lost (downstream of altered splice site)
626626ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
632634STRANDmight get lost (downstream of altered splice site)
636638TURNmight get lost (downstream of altered splice site)
640642STRANDmight get lost (downstream of altered splice site)
652654TURNmight get lost (downstream of altered splice site)
656656MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
656657MUTAGENMissing: Loss of kinase activity.might get lost (downstream of altered splice site)
657657MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
657659TURNmight get lost (downstream of altered splice site)
664666STRANDmight get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
672676HELIXmight get lost (downstream of altered splice site)
682697HELIXmight get lost (downstream of altered splice site)
709717HELIXmight get lost (downstream of altered splice site)
726728STRANDmight get lost (downstream of altered splice site)
730739HELIXmight get lost (downstream of altered splice site)
744746HELIXmight get lost (downstream of altered splice site)
750764HELIXmight get lost (downstream of altered splice site)
769769MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
769769MUTAGENY->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.might get lost (downstream of altered splice site)
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)		 81081
chromosomal position
(for ins/del: last normal base / first normal base)		 123276892
original gDNA sequence snippet GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG
altered gDNA sequence snippet GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG
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 0.66 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems