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 CM950472)
  • known disease mutation: rs16330 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1806104G>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000412135
Genbank transcript ID NM_022965
UniProt peptide P22607
alteration type single base exchange
alteration region intron
DNA changes g.11071G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs75790268
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16330 (pathogenic for Achondroplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950472)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950472)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950472)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4540.247
2.4940.985
(flanking)3.1240.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained110800.35mu: GTGTGTATGCATGCATCCTCAGCTACGGGGTGGGCTTCTTC ctca|GCTA
distance from splice site 447
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
23375TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
253355DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
315315CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
324326STRANDmight get lost (downstream of altered splice site)
328328CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
335345STRANDmight get lost (downstream of altered splice site)
339339DISULFIDBy similarity.might get lost (downstream of altered splice site)
348357STRANDmight get lost (downstream of altered splice site)
376396TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395395CONFLICTL -> V (in Ref. 7; AAA58470).might get lost (downstream of altered splice site)
397806TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
421421CONFLICTR -> RQ (in Ref. 3; BAD92678).might get lost (downstream of altered splice site)
472761DOMAINProtein kinase.might get lost (downstream of altered splice site)
478486NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
508508BINDINGATP (By similarity).might get lost (downstream of altered splice site)
508508MUTAGENK->A: Loss of kinase activity. Abolishes ubiquitination.might get lost (downstream of altered splice site)
577577MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
617617ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
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 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 257 / 257
chromosome 4
strand 1
last intron/exon boundary 2195
theoretical NMD boundary in CDS 1888
length of CDS 2085
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)		 11071
chromosomal position
(for ins/del: last normal base / first normal base)		 1806104
original gDNA sequence snippet AGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTG
altered gDNA sequence snippet AGGCGGGCAGTGTGTATGCATGCATCCTCAGCTACGGGGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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 VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
mutated AA sequence N/A
speed 0.41 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