Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999968266893545 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940777)
  • known disease mutation: rs13270 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276934T>CN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000358487
Genbank transcript ID NM_000141
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.983A>G
cDNA.1256A>G
g.81039A>G
AA changes Y328C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 328
frameshift no
known variant Reference ID: rs121918493
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13270 (pathogenic for Crouzon syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940777)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940777)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940777)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6971
5.1771
(flanking)2.6691
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased81044wt: 0.51 / mu: 0.59wt: AGATTGAGGTTCTCTATATTCGGAATGTAACTTTTGAGGAC
mu: AGATTGAGGTTCTCTGTATTCGGAATGTAACTTTTGAGGAC		 attc|GGAA
Acc increased81045wt: 0.39 / mu: 0.52wt: GATTGAGGTTCTCTATATTCGGAATGTAACTTTTGAGGACG
mu: GATTGAGGTTCTCTGTATTCGGAATGTAACTTTTGAGGACG		 ttcg|GAAT
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      328VNTTDKEIEVLYIRNVTFEDAGEY
mutated  not conserved    328VNTTDKEIEVLCIRNVTFEDAGE
Ptroglodytes  all conserved  ENSPTRG00000003003  328INSSNAEVLALF--NVTEADAGE
Mmulatta  all conserved  ENSMMUG00000009594  177INSSNAEVLALF--NV
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  347VNTTDKEIEVLYIRNVTFEDAGE
Ggallus  all identical  ENSGALG00000009495  335VNTTDKEIEVLYIRNVTFEDAGE
Trubripes  not conserved  ENSTRUG00000017610  328INSSD--VEILTLTNVTEEDAGE
Drerio  all identical  ENSDARG00000058115  351VNTTDKEIEVLYLPNVTFEDAGE
Dmelanogaster  not conserved  FBgn0010389  269IIAEDKD--QLDFVNVRMEQEGW
Celegans  not conserved  F58A3.2  464MDTFDKAHVHHVGDESTLTIFNVSLDDQGI
Xtropicalis  all identical  ENSXETG00000015592  340VNVTDEEIEVLYVRNVSFEDAGE
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
326329STRANDlost
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 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 983
cDNA position
(for ins/del: last normal base / first normal base)		 1256
gDNA position
(for ins/del: last normal base / first normal base)		 81039
chromosomal position
(for ins/del: last normal base / first normal base)		 123276934
original gDNA sequence snippet CAAAGAGATTGAGGTTCTCTATATTCGGAATGTAACTTTTG
altered gDNA sequence snippet CAAAGAGATTGAGGTTCTCTGTATTCGGAATGTAACTTTTG
original cDNA sequence snippet CAAAGAGATTGAGGTTCTCTATATTCGGAATGTAACTTTTG
altered cDNA sequence snippet CAAAGAGATTGAGGTTCTCTGTATTCGGAATGTAACTTTTG
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 DKEIEVLCIR 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*
speed 1.38 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