Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.902158898085556 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950471)
  • known disease mutation: rs16333 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1806092A>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000260795
Genbank transcript ID N/A
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.1111A>T
cDNA.1213A>T
g.11059A>T
AA changes S371C Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 371
frameshift no
known variant Reference ID: rs121913484
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16333 (pathogenic for Bladder carcinoma|Carcinoma|Thanatophoric dysplasia type 1|not specified) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950471)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950471)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950471)
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)1.1210.97
0.5690.947
(flanking)1.2830.926
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 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      371EEELVEADEAGSVYAGILSYGVGF
mutated  not conserved    371EELVEADEAGCVYAGILSYGVG
Ptroglodytes  all identical  ENSPTRG00000015836  370EELVEADEAGSVYAGILSYGVG
Mmulatta  all identical  ENSMMUG00000019945  373EEELVEADEAGSVYAGILSYGVG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  367EEELMETDEAGSVYAGVLSYGVV
Ggallus  all identical  ENSGALG00000015708  369DDSGSVYAGILSYGTG
Trubripes  not conserved  ENSTRUG00000003670  328KPALPVLSPGTADINTTDILIYVTG
Drerio  not conserved  ENSDARG00000004782  366VEMEREDD-----YADILIYVTS
Dmelanogaster  all identical  FBgn0010389  304AGVASGSLHSTSFVYIFVFG
Celegans  not conserved  F58A3.2  517DEPKIDRWTTSDYIFTTIL-----
Xtropicalis  all conserved  ENSXETG00000002396  389KPTTTSSSSTTVLIVVSVITG
protein features
start (aa)end (aa)featuredetails 
23375TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2421 / 2421
position (AA) of stopcodon in wt / mu AA sequence 807 / 807
position of stopcodon in wt / mu cDNA 2523 / 2523
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 103 / 103
chromosome 4
strand 1
last intron/exon boundary 2377
theoretical NMD boundary in CDS 2224
length of CDS 2421
coding sequence (CDS) position 1111
cDNA position
(for ins/del: last normal base / first normal base)		 1213
gDNA position
(for ins/del: last normal base / first normal base)		 11059
chromosomal position
(for ins/del: last normal base / first normal base)		 1806092
original gDNA sequence snippet TGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTC
altered gDNA sequence snippet TGGAGGCTGACGAGGCGGGCTGTGTGTATGCAGGCATCCTC
original cDNA sequence snippet TGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTC
altered cDNA sequence snippet TGGAGGCTGACGAGGCGGGCTGTGTGTATGCAGGCATCCTC
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
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
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 TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG CVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
speed 0.97 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