Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999906387 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM066079)
  • known disease mutation: rs16356 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1803657A>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000481110
Genbank transcript ID N/A
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.835A>T
cDNA.1096A>T
g.8624A>T
AA changes S279C Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 279
frameshift no
known variant Reference ID: rs121913114
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16356 (pathogenic for Achondroplasia|Hypochondroplasia|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM066079)

known disease mutation at this position, please check HGMD for details (HGMD ID CM066079)
known disease mutation at this position, please check HGMD for details (HGMD ID CM066079)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.81
4.4471
(flanking)5.3881
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 96
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      279GSDVEFHCKVYSDAQPHIQWLKHV
mutated  not conserved    279GSDVEFHCKVYCDAQPHIQWLKH
Ptroglodytes  all identical  ENSPTRG00000015836  279GSDVEFHCKVYSDAQPHIQWLKH
Mmulatta  all identical  ENSMMUG00000019945  279GSDVEFHCKVYSDAQPHIQWLKH
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  273GSDVEFHCKVYSDAQPHIQWLKH
Ggallus  all identical  ENSGALG00000015708  278GSNVEFHCKVYSDAQPHIQWLKH
Trubripes  all identical  ENSTRUG00000003670  238GSNVEFHCKVYSDAQPHIQ
Drerio  all identical  ENSDARG00000004782  272GRDLVFLAPLDSQSSV
Dmelanogaster  all identical  FBgn0010389  225NSTGSMHCKYLSDLTSKKAWI-F
Celegans  all identical  F58A3.2  418NDTATFHCKVVSDLLPHII
Xtropicalis  all identical  ENSXETG00000002396  295GSDVEFHCKVYSDAQPHIQWLKH
protein features
start (aa)end (aa)featuredetails 
23375TOPO_DOMExtracellular (Potential).lost
253355DOMAINIg-like C2-type 3.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2379 / 2379
position (AA) of stopcodon in wt / mu AA sequence 793 / 793
position of stopcodon in wt / mu cDNA 2640 / 2640
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 262 / 262
chromosome 4
strand 1
last intron/exon boundary 2468
theoretical NMD boundary in CDS 2156
length of CDS 2379
coding sequence (CDS) position 835
cDNA position
(for ins/del: last normal base / first normal base)		 1096
gDNA position
(for ins/del: last normal base / first normal base)		 8624
chromosomal position
(for ins/del: last normal base / first normal base)		 1803657
original gDNA sequence snippet AGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATC
altered gDNA sequence snippet AGTTCCACTGCAAGGTGTACTGTGACGCACAGCCCCACATC
original cDNA sequence snippet AGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATC
altered cDNA sequence snippet AGTTCCACTGCAAGGTGTACTGTGACGCACAGCCCCACATC
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 TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQQVSLESNA SMSSNTPLVR IARLSSGEGP TLANVSELEL PADPKWELSR ARLTLGKPLG
EGCFGQVVMA EAIGIDKDRA AKPVTVAVKM LKDDATDKDL SDLVSEMEMM KMIGKHKNII
NLLGACTQGG PLYVLVEYAA KGNLREFLRA RRPPGLDYSF DTCKPPEEQL TFKDLVSCAY
QVARGMEYLA SQKCIHRDLA ARNVLVTEDN VMKIADFGLA RDVHNLDYYK KTTNLVLWGP
ALGDLHAGGL PVPRHPCGGA LQAAEGGPPH GQARQLHTRP VHDHAGVLAC RALPEAHLQA
AGGGPGPCPY RDVHRRVPGP VGAFRAVLPG WPGHPQLQLL RGRLRVCPRP AAPGPTQQWG
LADVKGHWSP TM*
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 VEFHCKVYCD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQQVSLESNA SMSSNTPLVR IARLSSGEGP TLANVSELEL PADPKWELSR ARLTLGKPLG
EGCFGQVVMA EAIGIDKDRA AKPVTVAVKM LKDDATDKDL SDLVSEMEMM KMIGKHKNII
NLLGACTQGG PLYVLVEYAA KGNLREFLRA RRPPGLDYSF DTCKPPEEQL TFKDLVSCAY
QVARGMEYLA SQKCIHRDLA ARNVLVTEDN VMKIADFGLA RDVHNLDYYK KTTNLVLWGP
ALGDLHAGGL PVPRHPCGGA LQAAEGGPPH GQARQLHTRP VHDHAGVLAC RALPEAHLQA
AGGGPGPCPY RDVHRRVPGP VGAFRAVLPG WPGHPQLQLL RGRLRVCPRP AAPGPTQQWG
LADVKGHWSP TM*
speed 1.10 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