Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000292408
Querying Taster for transcript #2: ENST00000393648
Querying Taster for transcript #3: ENST00000502906
Querying Taster for transcript #4: ENST00000393637
Querying Taster for transcript #5: ENST00000292410
MT speed 0 s - this script 4.891517 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FGFR4polymorphism_automatic6.66961075901362e-06simple_aaeaffectedV10Isingle base exchangers1966265show file
FGFR4polymorphism_automatic6.66961075901362e-06simple_aaeaffectedV10Isingle base exchangers1966265show file
FGFR4polymorphism_automatic6.66961075901362e-06simple_aaeaffectedV10Isingle base exchangers1966265show file
FGFR4polymorphism_automatic6.66961075901362e-06simple_aaeaffectedV10Isingle base exchangers1966265show file
FGFR4polymorphism_automatic6.66961075901362e-06simple_aaeaffectedV10Isingle base exchangers1966265show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999993330389241 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:176516631G>AN/A show variant in all transcripts   IGV
HGNC symbol FGFR4
Ensembl transcript ID ENST00000292408
Genbank transcript ID NM_002011
UniProt peptide P22455
alteration type single base exchange
alteration region CDS
DNA changes c.28G>A
cDNA.273G>A
g.2745G>A
AA changes V10I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 10
frameshift no
known variant Reference ID: rs1966265
databasehomozygous (A/A)heterozygousallele carriers
1000G197752949
ExAC39352043024365
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1020.804
-0.5230.777
(flanking)1.1960.897
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2742wt: 0.60 / mu: 0.69wt: GGCTGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCT
mu: GGCTGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCT		 ttgg|GGGT
Donor marginally increased2749wt: 0.9797 / mu: 0.9867 (marginal change - not scored)wt: GGTCCTGCTGAGTGT
mu: GATCCTGCTGAGTGT		 TCCT|gctg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      10 MRLLLALLGVLLSVPGPPVLSL
mutated  all conserved    10 MRLLLALLGILLSVPGPPVLSL
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000004919  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005320  10 MWLLLALLSIF---QGTPALSL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000069105  n/a
Dmelanogaster  no alignment  FBgn0010389  n/a
Celegans  no alignment  F58A3.2  n/a
Xtropicalis  all identical  ENSXETG00000007231  25 RLLLGVLFVATLSSCRPALSED
protein features
start (aa)end (aa)featuredetails 
121SIGNALlost
22118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
22369TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
4547STRANDmight get lost (downstream of altered splice site)
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
6567STRANDmight get lost (downstream of altered splice site)
7581STRANDmight get lost (downstream of altered splice site)
9395HELIXmight get lost (downstream of altered splice site)
100102STRANDmight get lost (downstream of altered splice site)
101101DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
114116STRANDmight get lost (downstream of altered splice site)
121121CONFLICTL -> S (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
152240DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
160163STRANDmight get lost (downstream of altered splice site)
168171STRANDmight get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
176178TURNmight get lost (downstream of altered splice site)
180183TURNmight get lost (downstream of altered splice site)
189191STRANDmight get lost (downstream of altered splice site)
192194TURNmight get lost (downstream of altered splice site)
194194CONFLICTE -> G (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
199205STRANDmight get lost (downstream of altered splice site)
208213STRANDmight get lost (downstream of altered splice site)
216218HELIXmight get lost (downstream of altered splice site)
220227STRANDmight get lost (downstream of altered splice site)
224224DISULFIDBy similarity.might get lost (downstream of altered splice site)
229242STRANDmight get lost (downstream of altered splice site)
249349DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
256260STRANDmight get lost (downstream of altered splice site)
258258CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263265STRANDmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
273275STRANDmight get lost (downstream of altered splice site)
277285STRANDmight get lost (downstream of altered splice site)
290290CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
295298STRANDmight get lost (downstream of altered splice site)
297297CONFLICTD -> V (in Ref. 1; CAA40490).might get lost (downstream of altered splice site)
301304STRANDmight get lost (downstream of altered splice site)
311311CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
312322STRANDmight get lost (downstream of altered splice site)
322322CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
325327HELIXmight get lost (downstream of altered splice site)
331336STRANDmight get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
342349STRANDmight get lost (downstream of altered splice site)
370390TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
391802TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
467755DOMAINProtein kinase.might get lost (downstream of altered splice site)
473481NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
503503MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
503503BINDINGATP (By similarity).might get lost (downstream of altered splice site)
573573MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
612612ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
642642MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
643643MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MUTAGENY->F: Loss of interaction with PLCG1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2409 / 2409
position (AA) of stopcodon in wt / mu AA sequence 803 / 803
position of stopcodon in wt / mu cDNA 2654 / 2654
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 246 / 246
chromosome 5
strand 1
last intron/exon boundary 2505
theoretical NMD boundary in CDS 2209
length of CDS 2409
coding sequence (CDS) position 28
cDNA position
(for ins/del: last normal base / first normal base)		 273
gDNA position
(for ins/del: last normal base / first normal base)		 2745
chromosomal position
(for ins/del: last normal base / first normal base)		 176516631
original gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
original cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
wildtype AA sequence MRLLLALLGV LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPEEDPTWTA
AAPEARYTDI ILYASGSLAL AVLLLLAGLY RGQALHGRHP RPPATVQKLS RFPLARQFSL
ESGSSGKSSS SLVRGVRLSS SGPALLAGLV SLDLPLDPLW EFPRDRLVLG KPLGEGCFGQ
VVRAEAFGMD PARPDQASTV AVKMLKDNAS DKDLADLVSE MEVMKLIGRH KNIINLLGVC
TQEGPLYVIV ECAAKGNLRE FLRARRPPGP DLSPDGPRSS EGPLSFPVLV SCAYQVARGM
QYLESRKCIH RDLAARNVLV TEDNVMKIAD FGLARGVHHI DYYKKTSNGR LPVKWMAPEA
LFDRVYTHQS DVWSFGILLW EIFTLGGSPY PGIPVEELFS LLREGHRMDR PPHCPPELYG
LMRECWHAAP SQRPTFKQLV EALDKVLLAV SEEYLDLRLT FGPYSPSGGD ASSTCSSSDS
VFSHDPLPLG SSSFPFGSGV QT*
mutated AA sequence MRLLLALLGI LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPEEDPTWTA
AAPEARYTDI ILYASGSLAL AVLLLLAGLY RGQALHGRHP RPPATVQKLS RFPLARQFSL
ESGSSGKSSS SLVRGVRLSS SGPALLAGLV SLDLPLDPLW EFPRDRLVLG KPLGEGCFGQ
VVRAEAFGMD PARPDQASTV AVKMLKDNAS DKDLADLVSE MEVMKLIGRH KNIINLLGVC
TQEGPLYVIV ECAAKGNLRE FLRARRPPGP DLSPDGPRSS EGPLSFPVLV SCAYQVARGM
QYLESRKCIH RDLAARNVLV TEDNVMKIAD FGLARGVHHI DYYKKTSNGR LPVKWMAPEA
LFDRVYTHQS DVWSFGILLW EIFTLGGSPY PGIPVEELFS LLREGHRMDR PPHCPPELYG
LMRECWHAAP SQRPTFKQLV EALDKVLLAV SEEYLDLRLT FGPYSPSGGD ASSTCSSSDS
VFSHDPLPLG SSSFPFGSGV QT*
speed 1.02 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999993330389241 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:176516631G>AN/A show variant in all transcripts   IGV
HGNC symbol FGFR4
Ensembl transcript ID ENST00000393648
Genbank transcript ID N/A
UniProt peptide P22455
alteration type single base exchange
alteration region CDS
DNA changes c.28G>A
cDNA.210G>A
g.2745G>A
AA changes V10I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 10
frameshift no
known variant Reference ID: rs1966265
databasehomozygous (A/A)heterozygousallele carriers
1000G197752949
ExAC39352043024365
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1020.804
-0.5230.777
(flanking)1.1960.897
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2742wt: 0.60 / mu: 0.69wt: GGCTGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCT
mu: GGCTGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCT		 ttgg|GGGT
Donor marginally increased2749wt: 0.9797 / mu: 0.9867 (marginal change - not scored)wt: GGTCCTGCTGAGTGT
mu: GATCCTGCTGAGTGT		 TCCT|gctg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      10 MRLLLALLGVLLSVPGPPVLSL
mutated  all conserved    10 MRLLLALLGILLSVPGPPVLSL
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000004919  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005320  10 MWLLLALLSIF---QGTPALSL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000069105  n/a
Dmelanogaster  no alignment  FBgn0010389  n/a
Celegans  no alignment  F58A3.2  n/a
Xtropicalis  all identical  ENSXETG00000007231  25 RLLLGVLFVATLSSCRPALSED
protein features
start (aa)end (aa)featuredetails 
121SIGNALlost
22118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
22369TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
4547STRANDmight get lost (downstream of altered splice site)
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
6567STRANDmight get lost (downstream of altered splice site)
7581STRANDmight get lost (downstream of altered splice site)
9395HELIXmight get lost (downstream of altered splice site)
100102STRANDmight get lost (downstream of altered splice site)
101101DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
114116STRANDmight get lost (downstream of altered splice site)
121121CONFLICTL -> S (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
152240DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
160163STRANDmight get lost (downstream of altered splice site)
168171STRANDmight get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
176178TURNmight get lost (downstream of altered splice site)
180183TURNmight get lost (downstream of altered splice site)
189191STRANDmight get lost (downstream of altered splice site)
192194TURNmight get lost (downstream of altered splice site)
194194CONFLICTE -> G (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
199205STRANDmight get lost (downstream of altered splice site)
208213STRANDmight get lost (downstream of altered splice site)
216218HELIXmight get lost (downstream of altered splice site)
220227STRANDmight get lost (downstream of altered splice site)
224224DISULFIDBy similarity.might get lost (downstream of altered splice site)
229242STRANDmight get lost (downstream of altered splice site)
249349DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
256260STRANDmight get lost (downstream of altered splice site)
258258CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263265STRANDmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
273275STRANDmight get lost (downstream of altered splice site)
277285STRANDmight get lost (downstream of altered splice site)
290290CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
295298STRANDmight get lost (downstream of altered splice site)
297297CONFLICTD -> V (in Ref. 1; CAA40490).might get lost (downstream of altered splice site)
301304STRANDmight get lost (downstream of altered splice site)
311311CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
312322STRANDmight get lost (downstream of altered splice site)
322322CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
325327HELIXmight get lost (downstream of altered splice site)
331336STRANDmight get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
342349STRANDmight get lost (downstream of altered splice site)
370390TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
391802TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
467755DOMAINProtein kinase.might get lost (downstream of altered splice site)
473481NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
503503MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
503503BINDINGATP (By similarity).might get lost (downstream of altered splice site)
573573MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
612612ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
642642MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
643643MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MUTAGENY->F: Loss of interaction with PLCG1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2205 / 2205
position (AA) of stopcodon in wt / mu AA sequence 735 / 735
position of stopcodon in wt / mu cDNA 2387 / 2387
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 183 / 183
chromosome 5
strand 1
last intron/exon boundary 2238
theoretical NMD boundary in CDS 2005
length of CDS 2205
coding sequence (CDS) position 28
cDNA position
(for ins/del: last normal base / first normal base)		 210
gDNA position
(for ins/del: last normal base / first normal base)		 2745
chromosomal position
(for ins/del: last normal base / first normal base)		 176516631
original gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
original cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
wildtype AA sequence MRLLLALLGV LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPEEDPTWTA
AAPEASSPWS QALPASQAHP WYEACVSPPA APPCSPASLV LGKPLGEGCF GQVVRAEAFG
MDPARPDQAS TVAVKMLKDN ASDKDLADLV SEMEVMKLIG RHKNIINLLG VCTQEGPLYV
IVECAAKGNL REFLRARRPP GPDLSPDGPR SSEGPLSFPV LVSCAYQVAR GMQYLESRKC
IHRDLAARNV LVTEDNVMKI ADFGLARGVH HIDYYKKTSN GRLPVKWMAP EALFDRVYTH
QSDVWSFGIL LWEIFTLGGS PYPGIPVEEL FSLLREGHRM DRPPHCPPEL YGLMRECWHA
APSQRPTFKQ LVEALDKVLL AVSEEYLDLR LTFGPYSPSG GDASSTCSSS DSVFSHDPLP
LGSSSFPFGS GVQT*
mutated AA sequence MRLLLALLGI LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPEEDPTWTA
AAPEASSPWS QALPASQAHP WYEACVSPPA APPCSPASLV LGKPLGEGCF GQVVRAEAFG
MDPARPDQAS TVAVKMLKDN ASDKDLADLV SEMEVMKLIG RHKNIINLLG VCTQEGPLYV
IVECAAKGNL REFLRARRPP GPDLSPDGPR SSEGPLSFPV LVSCAYQVAR GMQYLESRKC
IHRDLAARNV LVTEDNVMKI ADFGLARGVH HIDYYKKTSN GRLPVKWMAP EALFDRVYTH
QSDVWSFGIL LWEIFTLGGS PYPGIPVEEL FSLLREGHRM DRPPHCPPEL YGLMRECWHA
APSQRPTFKQ LVEALDKVLL AVSEEYLDLR LTFGPYSPSG GDASSTCSSS DSVFSHDPLP
LGSSSFPFGS GVQT*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999993330389241 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:176516631G>AN/A show variant in all transcripts   IGV
HGNC symbol FGFR4
Ensembl transcript ID ENST00000502906
Genbank transcript ID N/A
UniProt peptide P22455
alteration type single base exchange
alteration region CDS
DNA changes c.28G>A
cDNA.201G>A
g.2745G>A
AA changes V10I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 10
frameshift no
known variant Reference ID: rs1966265
databasehomozygous (A/A)heterozygousallele carriers
1000G197752949
ExAC39352043024365
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1020.804
-0.5230.777
(flanking)1.1960.897
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2742wt: 0.60 / mu: 0.69wt: GGCTGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCT
mu: GGCTGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCT		 ttgg|GGGT
Donor marginally increased2749wt: 0.9797 / mu: 0.9867 (marginal change - not scored)wt: GGTCCTGCTGAGTGT
mu: GATCCTGCTGAGTGT		 TCCT|gctg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      10 MRLLLALLGVLLSVPGPPVLSL
mutated  all conserved    10 MRLLLALLGILLSVPGPPVLSL
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000004919  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005320  10 MWLLLALLSIF---QGTPALSL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000069105  n/a
Dmelanogaster  no alignment  FBgn0010389  n/a
Celegans  no alignment  F58A3.2  n/a
Xtropicalis  all identical  ENSXETG00000007231  25 RLLLGVLFVATLSSCRPALSED
protein features
start (aa)end (aa)featuredetails 
121SIGNALlost
22118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
22369TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
4547STRANDmight get lost (downstream of altered splice site)
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
6567STRANDmight get lost (downstream of altered splice site)
7581STRANDmight get lost (downstream of altered splice site)
9395HELIXmight get lost (downstream of altered splice site)
100102STRANDmight get lost (downstream of altered splice site)
101101DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
114116STRANDmight get lost (downstream of altered splice site)
121121CONFLICTL -> S (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
152240DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
160163STRANDmight get lost (downstream of altered splice site)
168171STRANDmight get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
176178TURNmight get lost (downstream of altered splice site)
180183TURNmight get lost (downstream of altered splice site)
189191STRANDmight get lost (downstream of altered splice site)
192194TURNmight get lost (downstream of altered splice site)
194194CONFLICTE -> G (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
199205STRANDmight get lost (downstream of altered splice site)
208213STRANDmight get lost (downstream of altered splice site)
216218HELIXmight get lost (downstream of altered splice site)
220227STRANDmight get lost (downstream of altered splice site)
224224DISULFIDBy similarity.might get lost (downstream of altered splice site)
229242STRANDmight get lost (downstream of altered splice site)
249349DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
256260STRANDmight get lost (downstream of altered splice site)
258258CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263265STRANDmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
273275STRANDmight get lost (downstream of altered splice site)
277285STRANDmight get lost (downstream of altered splice site)
290290CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
295298STRANDmight get lost (downstream of altered splice site)
297297CONFLICTD -> V (in Ref. 1; CAA40490).might get lost (downstream of altered splice site)
301304STRANDmight get lost (downstream of altered splice site)
311311CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
312322STRANDmight get lost (downstream of altered splice site)
322322CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
325327HELIXmight get lost (downstream of altered splice site)
331336STRANDmight get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
342349STRANDmight get lost (downstream of altered splice site)
370390TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
391802TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
467755DOMAINProtein kinase.might get lost (downstream of altered splice site)
473481NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
503503MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
503503BINDINGATP (By similarity).might get lost (downstream of altered splice site)
573573MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
612612ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
642642MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
643643MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MUTAGENY->F: Loss of interaction with PLCG1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2409 / 2409
position (AA) of stopcodon in wt / mu AA sequence 803 / 803
position of stopcodon in wt / mu cDNA 2582 / 2582
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 174 / 174
chromosome 5
strand 1
last intron/exon boundary 2433
theoretical NMD boundary in CDS 2209
length of CDS 2409
coding sequence (CDS) position 28
cDNA position
(for ins/del: last normal base / first normal base)		 201
gDNA position
(for ins/del: last normal base / first normal base)		 2745
chromosomal position
(for ins/del: last normal base / first normal base)		 176516631
original gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
original cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
wildtype AA sequence MRLLLALLGV LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPEEDPTWTA
AAPEARYTDI ILYASGSLAL AVLLLLAGLY RGQALHGRHP RPPATVQKLS RFPLARQFSL
ESGSSGKSSS SLVRGVRLSS SGPALLAGLV SLDLPLDPLW EFPRDRLVLG KPLGEGCFGQ
VVRAEAFGMD PARPDQASTV AVKMLKDNAS DKDLADLVSE MEVMKLIGRH KNIINLLGVC
TQEGPLYVIV ECAAKGNLRE FLRARRPPGP DLSPDGPRSS EGPLSFPVLV SCAYQVARGM
QYLESRKCIH RDLAARNVLV TEDNVMKIAD FGLARGVHHI DYYKKTSNGR LPVKWMAPEA
LFDRVYTHQS DVWSFGILLW EIFTLGGSPY PGIPVEELFS LLREGHRMDR PPHCPPELYG
LMRECWHAAP SQRPTFKQLV EALDKVLLAV SEEYLDLRLT FGPYSPSGGD ASSTCSSSDS
VFSHDPLPLG SSSFPFGSGV QT*
mutated AA sequence MRLLLALLGI LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPEEDPTWTA
AAPEARYTDI ILYASGSLAL AVLLLLAGLY RGQALHGRHP RPPATVQKLS RFPLARQFSL
ESGSSGKSSS SLVRGVRLSS SGPALLAGLV SLDLPLDPLW EFPRDRLVLG KPLGEGCFGQ
VVRAEAFGMD PARPDQASTV AVKMLKDNAS DKDLADLVSE MEVMKLIGRH KNIINLLGVC
TQEGPLYVIV ECAAKGNLRE FLRARRPPGP DLSPDGPRSS EGPLSFPVLV SCAYQVARGM
QYLESRKCIH RDLAARNVLV TEDNVMKIAD FGLARGVHHI DYYKKTSNGR LPVKWMAPEA
LFDRVYTHQS DVWSFGILLW EIFTLGGSPY PGIPVEELFS LLREGHRMDR PPHCPPELYG
LMRECWHAAP SQRPTFKQLV EALDKVLLAV SEEYLDLRLT FGPYSPSGGD ASSTCSSSDS
VFSHDPLPLG SSSFPFGSGV QT*
speed 0.74 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999993330389241 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:176516631G>AN/A show variant in all transcripts   IGV
HGNC symbol FGFR4
Ensembl transcript ID ENST00000393637
Genbank transcript ID N/A
UniProt peptide P22455
alteration type single base exchange
alteration region CDS
DNA changes c.28G>A
cDNA.64G>A
g.2745G>A
AA changes V10I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 10
frameshift no
known variant Reference ID: rs1966265
databasehomozygous (A/A)heterozygousallele carriers
1000G197752949
ExAC39352043024365
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1020.804
-0.5230.777
(flanking)1.1960.897
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2742wt: 0.60 / mu: 0.69wt: GGCTGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCT
mu: GGCTGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCT		 ttgg|GGGT
Donor marginally increased2749wt: 0.9797 / mu: 0.9867 (marginal change - not scored)wt: GGTCCTGCTGAGTGT
mu: GATCCTGCTGAGTGT		 TCCT|gctg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      10 MRLLLALLGVLLSVPGPPVLSL
mutated  all conserved    10 MRLLLALLGILLSVPGPPVLSL
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000004919  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005320  10 MWLLLALLSIF---QGTPALSL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000069105  n/a
Dmelanogaster  no alignment  FBgn0010389  n/a
Celegans  no alignment  F58A3.2  n/a
Xtropicalis  all identical  ENSXETG00000007231  25 RLLLGVLFVATLSSCRPALSED
protein features
start (aa)end (aa)featuredetails 
121SIGNALlost
22118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
22369TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
4547STRANDmight get lost (downstream of altered splice site)
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
6567STRANDmight get lost (downstream of altered splice site)
7581STRANDmight get lost (downstream of altered splice site)
9395HELIXmight get lost (downstream of altered splice site)
100102STRANDmight get lost (downstream of altered splice site)
101101DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
114116STRANDmight get lost (downstream of altered splice site)
121121CONFLICTL -> S (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
152240DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
160163STRANDmight get lost (downstream of altered splice site)
168171STRANDmight get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
176178TURNmight get lost (downstream of altered splice site)
180183TURNmight get lost (downstream of altered splice site)
189191STRANDmight get lost (downstream of altered splice site)
192194TURNmight get lost (downstream of altered splice site)
194194CONFLICTE -> G (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
199205STRANDmight get lost (downstream of altered splice site)
208213STRANDmight get lost (downstream of altered splice site)
216218HELIXmight get lost (downstream of altered splice site)
220227STRANDmight get lost (downstream of altered splice site)
224224DISULFIDBy similarity.might get lost (downstream of altered splice site)
229242STRANDmight get lost (downstream of altered splice site)
249349DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
256260STRANDmight get lost (downstream of altered splice site)
258258CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263265STRANDmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
273275STRANDmight get lost (downstream of altered splice site)
277285STRANDmight get lost (downstream of altered splice site)
290290CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
295298STRANDmight get lost (downstream of altered splice site)
297297CONFLICTD -> V (in Ref. 1; CAA40490).might get lost (downstream of altered splice site)
301304STRANDmight get lost (downstream of altered splice site)
311311CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
312322STRANDmight get lost (downstream of altered splice site)
322322CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
325327HELIXmight get lost (downstream of altered splice site)
331336STRANDmight get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
342349STRANDmight get lost (downstream of altered splice site)
370390TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
391802TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
467755DOMAINProtein kinase.might get lost (downstream of altered splice site)
473481NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
503503MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
503503BINDINGATP (By similarity).might get lost (downstream of altered splice site)
573573MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
612612ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
642642MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
643643MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MUTAGENY->F: Loss of interaction with PLCG1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2289 / 2289
position (AA) of stopcodon in wt / mu AA sequence 763 / 763
position of stopcodon in wt / mu cDNA 2325 / 2325
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 37 / 37
chromosome 5
strand 1
last intron/exon boundary 2176
theoretical NMD boundary in CDS 2089
length of CDS 2289
coding sequence (CDS) position 28
cDNA position
(for ins/del: last normal base / first normal base)		 64
gDNA position
(for ins/del: last normal base / first normal base)		 2745
chromosomal position
(for ins/del: last normal base / first normal base)		 176516631
original gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
original cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
wildtype AA sequence MRLLLALLGV LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPGTGRIPHL
TCDSLTPAGR TKSPTLQFSL ESGSSGKSSS SLVRGVRLSS SGPALLAGLV SLDLPLDPLW
EFPRDRLVLG KPLGEGCFGQ VVRAEAFGMD PARPDQASTV AVKMLKDNAS DKDLADLVSE
MEVMKLIGRH KNIINLLGVC TQEGPLYVIV ECAAKGNLRE FLRARRPPGP DLSPDGPRSS
EGPLSFPVLV SCAYQVARGM QYLESRKCIH RDLAARNVLV TEDNVMKIAD FGLARGVHHI
DYYKKTSNGR LPVKWMAPEA LFDRVYTHQS DVWSFGILLW EIFTLGGSPY PGIPVEELFS
LLREGHRMDR PPHCPPELYG LMRECWHAAP SQRPTFKQLV EALDKVLLAV SEEYLDLRLT
FGPYSPSGGD ASSTCSSSDS VFSHDPLPLG SSSFPFGSGV QT*
mutated AA sequence MRLLLALLGI LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPGTGRIPHL
TCDSLTPAGR TKSPTLQFSL ESGSSGKSSS SLVRGVRLSS SGPALLAGLV SLDLPLDPLW
EFPRDRLVLG KPLGEGCFGQ VVRAEAFGMD PARPDQASTV AVKMLKDNAS DKDLADLVSE
MEVMKLIGRH KNIINLLGVC TQEGPLYVIV ECAAKGNLRE FLRARRPPGP DLSPDGPRSS
EGPLSFPVLV SCAYQVARGM QYLESRKCIH RDLAARNVLV TEDNVMKIAD FGLARGVHHI
DYYKKTSNGR LPVKWMAPEA LFDRVYTHQS DVWSFGILLW EIFTLGGSPY PGIPVEELFS
LLREGHRMDR PPHCPPELYG LMRECWHAAP SQRPTFKQLV EALDKVLLAV SEEYLDLRLT
FGPYSPSGGD ASSTCSSSDS VFSHDPLPLG SSSFPFGSGV QT*
speed 1.07 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999993330389241 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:176516631G>AN/A show variant in all transcripts   IGV
HGNC symbol FGFR4
Ensembl transcript ID ENST00000292410
Genbank transcript ID NM_022963
UniProt peptide P22455
alteration type single base exchange
alteration region CDS
DNA changes c.28G>A
cDNA.201G>A
g.2745G>A
AA changes V10I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 10
frameshift no
known variant Reference ID: rs1966265
databasehomozygous (A/A)heterozygousallele carriers
1000G197752949
ExAC39352043024365
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1020.804
-0.5230.777
(flanking)1.1960.897
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2742wt: 0.60 / mu: 0.69wt: GGCTGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCT
mu: GGCTGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCT		 ttgg|GGGT
Donor marginally increased2749wt: 0.9797 / mu: 0.9867 (marginal change - not scored)wt: GGTCCTGCTGAGTGT
mu: GATCCTGCTGAGTGT		 TCCT|gctg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      10 MRLLLALLGVLLSVPGPPVLSL
mutated  all conserved    10 MRLLLALLGILLSVPGPPVLSL
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000004919  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005320  10 MWLLLALLSIF---QGTPALSL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000069105  n/a
Dmelanogaster  no alignment  FBgn0010389  n/a
Celegans  no alignment  F58A3.2  n/a
Xtropicalis  all identical  ENSXETG00000007231  25 RLLLGVLFVATLSSCRPALSED
protein features
start (aa)end (aa)featuredetails 
121SIGNALlost
22118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
22369TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
4547STRANDmight get lost (downstream of altered splice site)
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
6567STRANDmight get lost (downstream of altered splice site)
7581STRANDmight get lost (downstream of altered splice site)
9395HELIXmight get lost (downstream of altered splice site)
100102STRANDmight get lost (downstream of altered splice site)
101101DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
114116STRANDmight get lost (downstream of altered splice site)
121121CONFLICTL -> S (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
152240DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
160163STRANDmight get lost (downstream of altered splice site)
168171STRANDmight get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
176178TURNmight get lost (downstream of altered splice site)
180183TURNmight get lost (downstream of altered splice site)
189191STRANDmight get lost (downstream of altered splice site)
192194TURNmight get lost (downstream of altered splice site)
194194CONFLICTE -> G (in Ref. 3; AAF27432).might get lost (downstream of altered splice site)
199205STRANDmight get lost (downstream of altered splice site)
208213STRANDmight get lost (downstream of altered splice site)
216218HELIXmight get lost (downstream of altered splice site)
220227STRANDmight get lost (downstream of altered splice site)
224224DISULFIDBy similarity.might get lost (downstream of altered splice site)
229242STRANDmight get lost (downstream of altered splice site)
249349DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
256260STRANDmight get lost (downstream of altered splice site)
258258CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263265STRANDmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
273275STRANDmight get lost (downstream of altered splice site)
277285STRANDmight get lost (downstream of altered splice site)
290290CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
295298STRANDmight get lost (downstream of altered splice site)
297297CONFLICTD -> V (in Ref. 1; CAA40490).might get lost (downstream of altered splice site)
301304STRANDmight get lost (downstream of altered splice site)
311311CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
312322STRANDmight get lost (downstream of altered splice site)
322322CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
325327HELIXmight get lost (downstream of altered splice site)
331336STRANDmight get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
342349STRANDmight get lost (downstream of altered splice site)
370390TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
391802TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
467755DOMAINProtein kinase.might get lost (downstream of altered splice site)
473481NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
503503MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
503503BINDINGATP (By similarity).might get lost (downstream of altered splice site)
573573MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
612612ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
642642MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
643643MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
754754MUTAGENY->F: Loss of interaction with PLCG1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2289 / 2289
position (AA) of stopcodon in wt / mu AA sequence 763 / 763
position of stopcodon in wt / mu cDNA 2462 / 2462
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 174 / 174
chromosome 5
strand 1
last intron/exon boundary 2313
theoretical NMD boundary in CDS 2089
length of CDS 2289
coding sequence (CDS) position 28
cDNA position
(for ins/del: last normal base / first normal base)		 201
gDNA position
(for ins/del: last normal base / first normal base)		 2745
chromosomal position
(for ins/del: last normal base / first normal base)		 176516631
original gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered gDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
original cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGG
altered cDNA sequence snippet TGCTGCTGGCCCTGTTGGGGATCCTGCTGAGTGTGCCTGGG
wildtype AA sequence MRLLLALLGV LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPGTGRIPHL
TCDSLTPAGR TKSPTLQFSL ESGSSGKSSS SLVRGVRLSS SGPALLAGLV SLDLPLDPLW
EFPRDRLVLG KPLGEGCFGQ VVRAEAFGMD PARPDQASTV AVKMLKDNAS DKDLADLVSE
MEVMKLIGRH KNIINLLGVC TQEGPLYVIV ECAAKGNLRE FLRARRPPGP DLSPDGPRSS
EGPLSFPVLV SCAYQVARGM QYLESRKCIH RDLAARNVLV TEDNVMKIAD FGLARGVHHI
DYYKKTSNGR LPVKWMAPEA LFDRVYTHQS DVWSFGILLW EIFTLGGSPY PGIPVEELFS
LLREGHRMDR PPHCPPELYG LMRECWHAAP SQRPTFKQLV EALDKVLLAV SEEYLDLRLT
FGPYSPSGGD ASSTCSSSDS VFSHDPLPLG SSSFPFGSGV QT*
mutated AA sequence MRLLLALLGI LLSVPGPPVL SLEASEEVEL EPCLAPSLEQ QEQELTVALG QPVRLCCGRA
ERGGHWYKEG SRLAPAGRVR GWRGRLEIAS FLPEDAGRYL CLARGSMIVL QNLTLITGDS
LTSSNDDEDP KSHRDPSNRH SYPQQAPYWT HPQRMEKKLH AVPAGNTVKF RCPAAGNPTP
TIRWLKDGQA FHGENRIGGI RLRHQHWSLV MESVVPSDRG TYTCLVENAV GSIRYNYLLD
VLERSPHRPI LQAGLPANTT AVVGSDVELL CKVYSDAQPH IQWLKHIVIN GSSFGADGFP
YVQVLKTADI NSSEVEVLYL RNVSAEDAGE YTCLAGNSIG LSYQSAWLTV LPGTGRIPHL
TCDSLTPAGR TKSPTLQFSL ESGSSGKSSS SLVRGVRLSS SGPALLAGLV SLDLPLDPLW
EFPRDRLVLG KPLGEGCFGQ VVRAEAFGMD PARPDQASTV AVKMLKDNAS DKDLADLVSE
MEVMKLIGRH KNIINLLGVC TQEGPLYVIV ECAAKGNLRE FLRARRPPGP DLSPDGPRSS
EGPLSFPVLV SCAYQVARGM QYLESRKCIH RDLAARNVLV TEDNVMKIAD FGLARGVHHI
DYYKKTSNGR LPVKWMAPEA LFDRVYTHQS DVWSFGILLW EIFTLGGSPY PGIPVEELFS
LLREGHRMDR PPHCPPELYG LMRECWHAAP SQRPTFKQLV EALDKVLLAV SEEYLDLRLT
FGPYSPSGGD ASSTCSSSDS VFSHDPLPLG SSSFPFGSGV QT*
speed 0.94 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
back to results table

Problems