Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999640219 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM065183)
  • known disease mutation: rs16355 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1807803G>AN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000340107
Genbank transcript ID NM_001163213
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.1868G>A
cDNA.2124G>A
g.12770G>A
AA changes R623H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 623
frameshift no
known variant Reference ID: rs121913113
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16355 (pathogenic for Craniosynostosis syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)

known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065183)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9441
5.531
(flanking)-1.1040.47
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12773wt: 0.21 / mu: 0.28wt: CAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGGACA
mu: CAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGGACA		 gcaa|TGTG
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      623SQKCIHRDLAARNVLVTEDNVMKI
mutated  not conserved    623SQKCIHRDLAAHNVLVTEDNVMK
Ptroglodytes  all identical  ENSPTRG00000015836  620SQKCIHRDLAARNVLVTEDNVMK
Mmulatta  all identical  ENSMMUG00000019945  623SQKCIHRDLAARNVLVTEDNVMK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  617SQKCIHRDLAARNVLVTEDNVMK
Ggallus  all identical  ENSGALG00000015708  620SQKCIHRDLAARNVLVTEDNVMK
Trubripes  all identical  ENSTRUG00000003670  580SQKCIHRDLAARNVLVTDDNVMK
Drerio  all identical  ENSDARG00000004782  613SKKCIHRDLAARNVLVTEDNVMK
Dmelanogaster  all identical  FBgn0010389  558SRRCIHRDLAARNVLVSDDYVLK
Celegans  all identical  F58A3.2  801SKKIIHRDLAARNVLVGDGHVLK
Xtropicalis  all identical  ENSXETG00000002396  637SQKCIHRDLAARNVLVTDDNVMK
protein features
start (aa)end (aa)featuredetails 
397806TOPO_DOMCytoplasmic (Potential).lost
472761DOMAINProtein kinase.lost
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2427 / 2427
position (AA) of stopcodon in wt / mu AA sequence 809 / 809
position of stopcodon in wt / mu cDNA 2683 / 2683
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 257 / 257
chromosome 4
strand 1
last intron/exon boundary 2537
theoretical NMD boundary in CDS 2230
length of CDS 2427
coding sequence (CDS) position 1868
cDNA position
(for ins/del: last normal base / first normal base)		 2124
gDNA position
(for ins/del: last normal base / first normal base)		 12770
chromosomal position
(for ins/del: last normal base / first normal base)		 1807803
original gDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered gDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
original cDNA sequence snippet CCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGG
altered cDNA sequence snippet CCACAGGGACCTGGCTGCCCACAATGTGCTGGTGACCGAGG
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK SWISESVEAD VRLRLANVSE RDGGEYLCRA TNFIGVAEKA FWLSVHGPRA
AEEELVEADE AGSVYAGILS YGVGFFLFIL VVAAVTLCRL RSPPKKGLGS PTVHKISRFP
LKRQVSLESN ASMSSNTPLV RIARLSSGEG PTLANVSELE LPADPKWELS RARLTLGKPL
GEGCFGQVVM AEAIGIDKDR AAKPVTVAVK MLKDDATDKD LSDLVSEMEM MKMIGKHKNI
INLLGACTQG GPLYVLVEYA AKGNLREFLR ARRPPGLDYS FDTCKPPEEQ LTFKDLVSCA
YQVARGMEYL ASQKCIHRDL AARNVLVTED NVMKIADFGL ARDVHNLDYY KKTTNGRLPV
KWMAPEALFD RVYTHQSDVW SFGVLLWEIF TLGGSPYPGI PVEELFKLLK EGHRMDKPAN
CTHDLYMIMR ECWHAAPSQR PTFKQLVEDL DRVLTVTSTD EYLDLSAPFE QYSPGGQDTP
SSSSSGDDSV FAHDLLPPAP PSSGGSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK SWISESVEAD VRLRLANVSE RDGGEYLCRA TNFIGVAEKA FWLSVHGPRA
AEEELVEADE AGSVYAGILS YGVGFFLFIL VVAAVTLCRL RSPPKKGLGS PTVHKISRFP
LKRQVSLESN ASMSSNTPLV RIARLSSGEG PTLANVSELE LPADPKWELS RARLTLGKPL
GEGCFGQVVM AEAIGIDKDR AAKPVTVAVK MLKDDATDKD LSDLVSEMEM MKMIGKHKNI
INLLGACTQG GPLYVLVEYA AKGNLREFLR ARRPPGLDYS FDTCKPPEEQ LTFKDLVSCA
YQVARGMEYL ASQKCIHRDL AAHNVLVTED NVMKIADFGL ARDVHNLDYY KKTTNGRLPV
KWMAPEALFD RVYTHQSDVW SFGVLLWEIF TLGGSPYPGI PVEELFKLLK EGHRMDKPAN
CTHDLYMIMR ECWHAAPSQR PTFKQLVEDL DRVLTVTSTD EYLDLSAPFE QYSPGGQDTP
SSSSSGDDSV FAHDLLPPAP PSSGGSRT*
speed 1.33 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