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 CM003315)
  • known disease mutation at this position (HGMD CM060999)
  • known disease mutation at this position (HGMD CM940784)
  • known disease mutation: rs13265 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276856G>CN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000369060
Genbank transcript ID NM_001144917
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.81117C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918490
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13265 (pathogenic for Crouzon syndrome|Inborn genetic diseases|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5921
6.2681
(flanking)1.6331
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 2637
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 488 / 488
chromosome 10
strand -1
last intron/exon boundary 2441
theoretical NMD boundary in CDS 1903
length of CDS 2118
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81117
chromosomal position
(for ins/del: last normal base / first normal base)		 123276856
original gDNA sequence snippet TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC
altered gDNA sequence snippet TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC
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 0.45 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