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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000407977
Querying Taster for transcript #2: ENST00000583753
Querying Taster for transcript #3: ENST00000584437
Querying Taster for transcript #4: ENST00000577716
Querying Taster for transcript #5: ENST00000577625
Querying Taster for transcript #6: ENST00000581868
Querying Taster for transcript #7: ENST00000500597
MT speed 0 s - this script 5.747904 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
RNF43polymorphism_automatic3.65210495179014e-09simple_aaeaffectedL291Msingle base exchangers2526374show file
RNF43polymorphism_automatic3.65210495179014e-09simple_aaeaffectedL291Msingle base exchangers2526374show file
RNF43polymorphism_automatic6.73531797001914e-09simple_aaeaffectedL418Msingle base exchangers2526374show file
RNF43polymorphism_automatic6.73531797001914e-09simple_aaeaffectedL377Msingle base exchangers2526374show file
RNF43polymorphism_automatic6.73531797001914e-09simple_aaeaffectedL418Msingle base exchangers2526374show file
RNF43polymorphism_automatic6.73531797001914e-09simple_aaeaffectedL418Msingle base exchangers2526374show file
RNF43polymorphism_automatic6.73531797001914e-09simple_aaeaffectedL377Msingle base exchangers2526374show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999996347895 (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) chr17:56435885G>TN/A show variant in all transcripts   IGV
HGNC symbol RNF43
Ensembl transcript ID ENST00000577625
Genbank transcript ID N/A
UniProt peptide Q68DV7
alteration type single base exchange
alteration region CDS
DNA changes c.871C>A
cDNA.1082C>A
g.59072C>A
AA changes L291M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 291
frameshift no
known variant Reference ID: rs2526374
databasehomozygous (T/T)heterozygousallele carriers
1000G41511711586
ExAC94431388123324
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1160.012
2.1320.069
(flanking)-0.790.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased59075wt: 0.9892 / mu: 0.9934 (marginal change - not scored)wt: GACTGAGCCACCTCC
mu: GAATGAGCCACCTCC		 CTGA|gcca
Donor gained590670.38mu: AGGCTGGGGAATGAG GCTG|ggga
Donor gained590680.40mu: GGCTGGGGAATGAGC CTGG|ggaa
distance from splice site 300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      291GAQHPYAQGWGLSHLQSTSQHPAA
mutated  all conserved    291GAQHPYAQGWGMSHLQSTSQH
Ptroglodytes  all identical  ENSPTRG00000034322  418GAQHPYAQGWGLSHLQSTSQH
Mmulatta  all identical  ENSMMUG00000007004  420GAQHPYAQGWGLSHLQSTSQH
Fcatus  all identical  ENSFCAG00000012267  418VAQHPYAQGWGLGRLRCTSQH
Mmusculus  all identical  ENSMUSG00000034177  418VSPHPYAQGWGLNRLRCTSQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  Y47D3B.11  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
219783TOPO_DOMCytoplasmic (Potential).lost
272313ZN_FINGRING-type; atypical.lost
290290MUTAGENC->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-292.might get lost (downstream of altered splice site)
292292MUTAGENH->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-290.might get lost (downstream of altered splice site)
295295MUTAGENH->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-298.might get lost (downstream of altered splice site)
298298MUTAGENC->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-295.might get lost (downstream of altered splice site)
313313CONFLICTM -> V (in Ref. 1; BAD51435 and 2; BAA91085).might get lost (downstream of altered splice site)
401401CONFLICTE -> K (in Ref. 2; BAH12429).might get lost (downstream of altered splice site)
443503COMPBIASSer-rich.might get lost (downstream of altered splice site)
547557COMPBIASHis-rich.might get lost (downstream of altered splice site)
569760COMPBIASPro-rich.might get lost (downstream of altered splice site)
600600CONFLICTR -> G (in Ref. 1; BAD51435 and 2; BAA91085).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1971 / 1971
position (AA) of stopcodon in wt / mu AA sequence 657 / 657
position of stopcodon in wt / mu cDNA 2182 / 2182
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 212 / 212
chromosome 17
strand -1
last intron/exon boundary 2139
theoretical NMD boundary in CDS 1877
length of CDS 1971
coding sequence (CDS) position 871
cDNA position
(for ins/del: last normal base / first normal base)		 1082
gDNA position
(for ins/del: last normal base / first normal base)		 59072
chromosomal position
(for ins/del: last normal base / first normal base)		 56435885
original gDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered gDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
original cDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered cDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
wildtype AA sequence MAGERGASAV LFDITEDRAA AEQLQQPLGL TWPVVLIWGN DAEKLMEFVY KNQKAHVRIE
LKEPPAWPDY DVWILMTVVG TIFVIILASV LRIRCRPRHS RPDPLQQRTA WAISQLATRR
YQASCRQARG EWPDSGSSCS SAPVCAICLE EFSEGQELRV ISCLHEFHRN CVDPWLHQHR
TCPLCMFNIT EGDSFSQSLG PSRSYQEPGR RLHLIRQHPG HAHYHLPAAY LLGPSRSAVA
RPPRPGPFLP SQEPGMGPRH HRFPRAAHPR APGEQQRLAG AQHPYAQGWG LSHLQSTSQH
PAACPVPLRR ARPPDSSGSG ESYCTERSGY LADGPASDSS SGPCHGSSSD SVVNCTDISL
QGVHGSSSTF CSSLSSDFDP LVYCSPKGDP QRVDMQPSVT SRPRSLDSVV PTGETQVSSH
VHYHRHRHHH YKKRFQWHGR KPGPETGVPQ SRPPIPRTQP QPEPPSPDQQ VTRSNSAAPS
GRLSNPQCPR ALPEPAPGPV DASSICPSTS SLFNLQKSSL SARHPQRKRR GGPSEPTPGS
RPQDATVHPA CQIFPHYTPS VAYPWSPEAH PLICGPPGLD KRLLPETPGP CYSNSQPVWL
CLTPRQPLEP HPPGEGPSEW SSDTAEGRPC PYPHCQVLSA QPGSEEELEE LCEQAV*
mutated AA sequence MAGERGASAV LFDITEDRAA AEQLQQPLGL TWPVVLIWGN DAEKLMEFVY KNQKAHVRIE
LKEPPAWPDY DVWILMTVVG TIFVIILASV LRIRCRPRHS RPDPLQQRTA WAISQLATRR
YQASCRQARG EWPDSGSSCS SAPVCAICLE EFSEGQELRV ISCLHEFHRN CVDPWLHQHR
TCPLCMFNIT EGDSFSQSLG PSRSYQEPGR RLHLIRQHPG HAHYHLPAAY LLGPSRSAVA
RPPRPGPFLP SQEPGMGPRH HRFPRAAHPR APGEQQRLAG AQHPYAQGWG MSHLQSTSQH
PAACPVPLRR ARPPDSSGSG ESYCTERSGY LADGPASDSS SGPCHGSSSD SVVNCTDISL
QGVHGSSSTF CSSLSSDFDP LVYCSPKGDP QRVDMQPSVT SRPRSLDSVV PTGETQVSSH
VHYHRHRHHH YKKRFQWHGR KPGPETGVPQ SRPPIPRTQP QPEPPSPDQQ VTRSNSAAPS
GRLSNPQCPR ALPEPAPGPV DASSICPSTS SLFNLQKSSL SARHPQRKRR GGPSEPTPGS
RPQDATVHPA CQIFPHYTPS VAYPWSPEAH PLICGPPGLD KRLLPETPGP CYSNSQPVWL
CLTPRQPLEP HPPGEGPSEW SSDTAEGRPC PYPHCQVLSA QPGSEEELEE LCEQAV*
speed 0.63 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: 0.999999996347895 (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) chr17:56435885G>TN/A show variant in all transcripts   IGV
HGNC symbol RNF43
Ensembl transcript ID ENST00000581868
Genbank transcript ID N/A
UniProt peptide Q68DV7
alteration type single base exchange
alteration region CDS
DNA changes c.871C>A
cDNA.1069C>A
g.59072C>A
AA changes L291M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 291
frameshift no
known variant Reference ID: rs2526374
databasehomozygous (T/T)heterozygousallele carriers
1000G41511711586
ExAC94431388123324
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1160.012
2.1320.069
(flanking)-0.790.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased59075wt: 0.9892 / mu: 0.9934 (marginal change - not scored)wt: GACTGAGCCACCTCC
mu: GAATGAGCCACCTCC		 CTGA|gcca
Donor gained590670.38mu: AGGCTGGGGAATGAG GCTG|ggga
Donor gained590680.40mu: GGCTGGGGAATGAGC CTGG|ggaa
distance from splice site 300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      291GAQHPYAQGWGLSHLQSTSQHPAA
mutated  all conserved    291GAQHPYAQGWGMSHLQSTSQH
Ptroglodytes  all identical  ENSPTRG00000034322  418GAQHPYAQGWGLSHLQSTSQH
Mmulatta  all identical  ENSMMUG00000007004  420GAQHPYAQGWGLSHLQSTSQH
Fcatus  all identical  ENSFCAG00000012267  418VAQHPYAQGWGLGRLRCTSQH
Mmusculus  all identical  ENSMUSG00000034177  418VSPHPYAQGWGLNRLRCTSQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  Y47D3B.11  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
219783TOPO_DOMCytoplasmic (Potential).lost
272313ZN_FINGRING-type; atypical.lost
290290MUTAGENC->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-292.might get lost (downstream of altered splice site)
292292MUTAGENH->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-290.might get lost (downstream of altered splice site)
295295MUTAGENH->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-298.might get lost (downstream of altered splice site)
298298MUTAGENC->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-295.might get lost (downstream of altered splice site)
313313CONFLICTM -> V (in Ref. 1; BAD51435 and 2; BAA91085).might get lost (downstream of altered splice site)
401401CONFLICTE -> K (in Ref. 2; BAH12429).might get lost (downstream of altered splice site)
443503COMPBIASSer-rich.might get lost (downstream of altered splice site)
547557COMPBIASHis-rich.might get lost (downstream of altered splice site)
569760COMPBIASPro-rich.might get lost (downstream of altered splice site)
600600CONFLICTR -> G (in Ref. 1; BAD51435 and 2; BAA91085).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2229 / 2229
position (AA) of stopcodon in wt / mu AA sequence 743 / 743
position of stopcodon in wt / mu cDNA 2427 / 2427
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 199 / 199
chromosome 17
strand -1
last intron/exon boundary 770
theoretical NMD boundary in CDS 521
length of CDS 2229
coding sequence (CDS) position 871
cDNA position
(for ins/del: last normal base / first normal base)		 1069
gDNA position
(for ins/del: last normal base / first normal base)		 59072
chromosomal position
(for ins/del: last normal base / first normal base)		 56435885
original gDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered gDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
original cDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered cDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
wildtype AA sequence MAGERGASAV LFDITEDRAA AEQLQQPLGL TWPVVLIWGN DAEKLMEFVY KNQKAHVRIE
LKEPPAWPDY DVWILMTVVG TIFVIILASV LRIRCRPRHS RPDPLQQRTA WAISQLATRR
YQASCRQARG EWPDSGSSCS SAPVCAICLE EFSEGQELRV ISCLHEFHRN CVDPWLHQHR
TCPLCMFNIT EGDSFSQSLG PSRSYQEPGR RLHLIRQHPG HAHYHLPAAY LLGPSRSAVA
RPPRPGPFLP SQEPGMGPRH HRFPRAAHPR APGEQQRLAG AQHPYAQGWG LSHLQSTSQH
PAACPVPLRR ARPPDSSGSG ESYCTERSGY LADGPASDSS SGPCHGSSSD SVVNCTDISL
QGVHGSSSTF CSSLSSDFDP LVYCSPKGDP QRVDMQPSVT SRPRSLDSVV PTGETQVSSH
VHYHRHRHHH YKKRFQWHGR KPGPETGVPQ SRPPIPRTQP QPEPPSPDQQ VTRSNSAAPS
GRLSNPQCPR ALPEPAPGPV DASSICPSTS SLFNLQKSSL SARHPQRKRR GGPSEPTPGS
RPQDATVHPA CQIFPHYTPS VAYPWSPEAH PLICGPPGLD KRLLPETPGP CYSNSQPVWL
CLTPRQPLEP HPPGEGPSEW SSDTAEGRPC PYPHCQVLSA QPGEFSEGSG CGRERRLQLN
ISGQVKSANK GLMEAEKDTA EMTTKILNHR DSVSCWLECR NTPPLPGATP LVGRSQGGPR
EVLVWLRHQK GTWKAGCDGS CL*
mutated AA sequence MAGERGASAV LFDITEDRAA AEQLQQPLGL TWPVVLIWGN DAEKLMEFVY KNQKAHVRIE
LKEPPAWPDY DVWILMTVVG TIFVIILASV LRIRCRPRHS RPDPLQQRTA WAISQLATRR
YQASCRQARG EWPDSGSSCS SAPVCAICLE EFSEGQELRV ISCLHEFHRN CVDPWLHQHR
TCPLCMFNIT EGDSFSQSLG PSRSYQEPGR RLHLIRQHPG HAHYHLPAAY LLGPSRSAVA
RPPRPGPFLP SQEPGMGPRH HRFPRAAHPR APGEQQRLAG AQHPYAQGWG MSHLQSTSQH
PAACPVPLRR ARPPDSSGSG ESYCTERSGY LADGPASDSS SGPCHGSSSD SVVNCTDISL
QGVHGSSSTF CSSLSSDFDP LVYCSPKGDP QRVDMQPSVT SRPRSLDSVV PTGETQVSSH
VHYHRHRHHH YKKRFQWHGR KPGPETGVPQ SRPPIPRTQP QPEPPSPDQQ VTRSNSAAPS
GRLSNPQCPR ALPEPAPGPV DASSICPSTS SLFNLQKSSL SARHPQRKRR GGPSEPTPGS
RPQDATVHPA CQIFPHYTPS VAYPWSPEAH PLICGPPGLD KRLLPETPGP CYSNSQPVWL
CLTPRQPLEP HPPGEGPSEW SSDTAEGRPC PYPHCQVLSA QPGEFSEGSG CGRERRLQLN
ISGQVKSANK GLMEAEKDTA EMTTKILNHR DSVSCWLECR NTPPLPGATP LVGRSQGGPR
EVLVWLRHQK GTWKAGCDGS CL*
speed 1.03 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: 0.999999993264682 (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) chr17:56435885G>TN/A show variant in all transcripts   IGV
HGNC symbol RNF43
Ensembl transcript ID ENST00000407977
Genbank transcript ID NM_017763
UniProt peptide Q68DV7
alteration type single base exchange
alteration region CDS
DNA changes c.1252C>A
cDNA.1973C>A
g.59072C>A
AA changes L418M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 418
frameshift no
known variant Reference ID: rs2526374
databasehomozygous (T/T)heterozygousallele carriers
1000G41511711586
ExAC94431388123324
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1160.012
2.1320.069
(flanking)-0.790.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased59075wt: 0.9892 / mu: 0.9934 (marginal change - not scored)wt: GACTGAGCCACCTCC
mu: GAATGAGCCACCTCC		 CTGA|gcca
Donor gained590670.38mu: AGGCTGGGGAATGAG GCTG|ggga
Donor gained590680.40mu: GGCTGGGGAATGAGC CTGG|ggaa
distance from splice site 300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      418GAQHPYAQGWGLSHLQSTSQHPAA
mutated  all conserved    418GAQHPYAQGWGMSH
Ptroglodytes  all identical  ENSPTRG00000034322  418GAQHPYAQGWGLSH
Mmulatta  all identical  ENSMMUG00000007004  420GAQHPYAQGWGLSHLQSTSQHPA
Fcatus  all identical  ENSFCAG00000012267  418VAQHPYAQGWGLGR
Mmusculus  all identical  ENSMUSG00000034177  418VSPHPYAQGWGLNR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  Y47D3B.11  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
219783TOPO_DOMCytoplasmic (Potential).lost
443503COMPBIASSer-rich.might get lost (downstream of altered splice site)
547557COMPBIASHis-rich.might get lost (downstream of altered splice site)
569760COMPBIASPro-rich.might get lost (downstream of altered splice site)
600600CONFLICTR -> G (in Ref. 1; BAD51435 and 2; BAA91085).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2352 / 2352
position (AA) of stopcodon in wt / mu AA sequence 784 / 784
position of stopcodon in wt / mu cDNA 3073 / 3073
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 722 / 722
chromosome 17
strand -1
last intron/exon boundary 3030
theoretical NMD boundary in CDS 2258
length of CDS 2352
coding sequence (CDS) position 1252
cDNA position
(for ins/del: last normal base / first normal base)		 1973
gDNA position
(for ins/del: last normal base / first normal base)		 59072
chromosomal position
(for ins/del: last normal base / first normal base)		 56435885
original gDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered gDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
original cDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered cDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
wildtype AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQSHPLYL CNASDDDNLE PGFISIVKLE SPRRAPRPCL
SLASKARMAG ERGASAVLFD ITEDRAAAEQ LQQPLGLTWP VVLIWGNDAE KLMEFVYKNQ
KAHVRIELKE PPAWPDYDVW ILMTVVGTIF VIILASVLRI RCRPRHSRPD PLQQRTAWAI
SQLATRRYQA SCRQARGEWP DSGSSCSSAP VCAICLEEFS EGQELRVISC LHEFHRNCVD
PWLHQHRTCP LCMFNITEGD SFSQSLGPSR SYQEPGRRLH LIRQHPGHAH YHLPAAYLLG
PSRSAVARPP RPGPFLPSQE PGMGPRHHRF PRAAHPRAPG EQQRLAGAQH PYAQGWGLSH
LQSTSQHPAA CPVPLRRARP PDSSGSGESY CTERSGYLAD GPASDSSSGP CHGSSSDSVV
NCTDISLQGV HGSSSTFCSS LSSDFDPLVY CSPKGDPQRV DMQPSVTSRP RSLDSVVPTG
ETQVSSHVHY HRHRHHHYKK RFQWHGRKPG PETGVPQSRP PIPRTQPQPE PPSPDQQVTR
SNSAAPSGRL SNPQCPRALP EPAPGPVDAS SICPSTSSLF NLQKSSLSAR HPQRKRRGGP
SEPTPGSRPQ DATVHPACQI FPHYTPSVAY PWSPEAHPLI CGPPGLDKRL LPETPGPCYS
NSQPVWLCLT PRQPLEPHPP GEGPSEWSSD TAEGRPCPYP HCQVLSAQPG SEEELEELCE
QAV*
mutated AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQSHPLYL CNASDDDNLE PGFISIVKLE SPRRAPRPCL
SLASKARMAG ERGASAVLFD ITEDRAAAEQ LQQPLGLTWP VVLIWGNDAE KLMEFVYKNQ
KAHVRIELKE PPAWPDYDVW ILMTVVGTIF VIILASVLRI RCRPRHSRPD PLQQRTAWAI
SQLATRRYQA SCRQARGEWP DSGSSCSSAP VCAICLEEFS EGQELRVISC LHEFHRNCVD
PWLHQHRTCP LCMFNITEGD SFSQSLGPSR SYQEPGRRLH LIRQHPGHAH YHLPAAYLLG
PSRSAVARPP RPGPFLPSQE PGMGPRHHRF PRAAHPRAPG EQQRLAGAQH PYAQGWGMSH
LQSTSQHPAA CPVPLRRARP PDSSGSGESY CTERSGYLAD GPASDSSSGP CHGSSSDSVV
NCTDISLQGV HGSSSTFCSS LSSDFDPLVY CSPKGDPQRV DMQPSVTSRP RSLDSVVPTG
ETQVSSHVHY HRHRHHHYKK RFQWHGRKPG PETGVPQSRP PIPRTQPQPE PPSPDQQVTR
SNSAAPSGRL SNPQCPRALP EPAPGPVDAS SICPSTSSLF NLQKSSLSAR HPQRKRRGGP
SEPTPGSRPQ DATVHPACQI FPHYTPSVAY PWSPEAHPLI CGPPGLDKRL LPETPGPCYS
NSQPVWLCLT PRQPLEPHPP GEGPSEWSSD TAEGRPCPYP HCQVLSAQPG SEEELEELCE
QAV*
speed 0.67 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: 0.999999993264682 (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) chr17:56435885G>TN/A show variant in all transcripts   IGV
HGNC symbol RNF43
Ensembl transcript ID ENST00000583753
Genbank transcript ID N/A
UniProt peptide Q68DV7
alteration type single base exchange
alteration region CDS
DNA changes c.1129C>A
cDNA.1193C>A
g.59072C>A
AA changes L377M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 377
frameshift no
known variant Reference ID: rs2526374
databasehomozygous (T/T)heterozygousallele carriers
1000G41511711586
ExAC94431388123324
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1160.012
2.1320.069
(flanking)-0.790.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased59075wt: 0.9892 / mu: 0.9934 (marginal change - not scored)wt: GACTGAGCCACCTCC
mu: GAATGAGCCACCTCC		 CTGA|gcca
Donor gained590670.38mu: AGGCTGGGGAATGAG GCTG|ggga
Donor gained590680.40mu: GGCTGGGGAATGAGC CTGG|ggaa
distance from splice site 300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      377GAQHPYAQGWGLSHLQSTSQHPAA
mutated  all conserved    377GAQHPYAQGWGMSHLQSTSQHPA
Ptroglodytes  all identical  ENSPTRG00000034322  418GAQHPYAQGWGLSH
Mmulatta  all identical  ENSMMUG00000007004  420GAQHPYAQGWGLSHLQSTSQHPA
Fcatus  all identical  ENSFCAG00000012267  418VAQHPYAQGWGLGR
Mmusculus  all identical  ENSMUSG00000034177  418VSPHPYAQGWGLNR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  Y47D3B.11  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
219783TOPO_DOMCytoplasmic (Potential).lost
401401CONFLICTE -> K (in Ref. 2; BAH12429).might get lost (downstream of altered splice site)
443503COMPBIASSer-rich.might get lost (downstream of altered splice site)
547557COMPBIASHis-rich.might get lost (downstream of altered splice site)
569760COMPBIASPro-rich.might get lost (downstream of altered splice site)
600600CONFLICTR -> G (in Ref. 1; BAD51435 and 2; BAA91085).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2229 / 2229
position (AA) of stopcodon in wt / mu AA sequence 743 / 743
position of stopcodon in wt / mu cDNA 2293 / 2293
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 65 / 65
chromosome 17
strand -1
last intron/exon boundary 2250
theoretical NMD boundary in CDS 2135
length of CDS 2229
coding sequence (CDS) position 1129
cDNA position
(for ins/del: last normal base / first normal base)		 1193
gDNA position
(for ins/del: last normal base / first normal base)		 59072
chromosomal position
(for ins/del: last normal base / first normal base)		 56435885
original gDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered gDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
original cDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered cDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
wildtype AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQARMAGE RGASAVLFDI TEDRAAAEQL QQPLGLTWPV
VLIWGNDAEK LMEFVYKNQK AHVRIELKEP PAWPDYDVWI LMTVVGTIFV IILASVLRIR
CRPRHSRPDP LQQRTAWAIS QLATRRYQAS CRQARGEWPD SGSSCSSAPV CAICLEEFSE
GQELRVISCL HEFHRNCVDP WLHQHRTCPL CMFNITEGDS FSQSLGPSRS YQEPGRRLHL
IRQHPGHAHY HLPAAYLLGP SRSAVARPPR PGPFLPSQEP GMGPRHHRFP RAAHPRAPGE
QQRLAGAQHP YAQGWGLSHL QSTSQHPAAC PVPLRRARPP DSSGSGESYC TERSGYLADG
PASDSSSGPC HGSSSDSVVN CTDISLQGVH GSSSTFCSSL SSDFDPLVYC SPKGDPQRVD
MQPSVTSRPR SLDSVVPTGE TQVSSHVHYH RHRHHHYKKR FQWHGRKPGP ETGVPQSRPP
IPRTQPQPEP PSPDQQVTRS NSAAPSGRLS NPQCPRALPE PAPGPVDASS ICPSTSSLFN
LQKSSLSARH PQRKRRGGPS EPTPGSRPQD ATVHPACQIF PHYTPSVAYP WSPEAHPLIC
GPPGLDKRLL PETPGPCYSN SQPVWLCLTP RQPLEPHPPG EGPSEWSSDT AEGRPCPYPH
CQVLSAQPGS EEELEELCEQ AV*
mutated AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQARMAGE RGASAVLFDI TEDRAAAEQL QQPLGLTWPV
VLIWGNDAEK LMEFVYKNQK AHVRIELKEP PAWPDYDVWI LMTVVGTIFV IILASVLRIR
CRPRHSRPDP LQQRTAWAIS QLATRRYQAS CRQARGEWPD SGSSCSSAPV CAICLEEFSE
GQELRVISCL HEFHRNCVDP WLHQHRTCPL CMFNITEGDS FSQSLGPSRS YQEPGRRLHL
IRQHPGHAHY HLPAAYLLGP SRSAVARPPR PGPFLPSQEP GMGPRHHRFP RAAHPRAPGE
QQRLAGAQHP YAQGWGMSHL QSTSQHPAAC PVPLRRARPP DSSGSGESYC TERSGYLADG
PASDSSSGPC HGSSSDSVVN CTDISLQGVH GSSSTFCSSL SSDFDPLVYC SPKGDPQRVD
MQPSVTSRPR SLDSVVPTGE TQVSSHVHYH RHRHHHYKKR FQWHGRKPGP ETGVPQSRPP
IPRTQPQPEP PSPDQQVTRS NSAAPSGRLS NPQCPRALPE PAPGPVDASS ICPSTSSLFN
LQKSSLSARH PQRKRRGGPS EPTPGSRPQD ATVHPACQIF PHYTPSVAYP WSPEAHPLIC
GPPGLDKRLL PETPGPCYSN SQPVWLCLTP RQPLEPHPPG EGPSEWSSDT AEGRPCPYPH
CQVLSAQPGS EEELEELCEQ AV*
speed 0.85 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: 0.999999993264682 (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) chr17:56435885G>TN/A show variant in all transcripts   IGV
HGNC symbol RNF43
Ensembl transcript ID ENST00000584437
Genbank transcript ID N/A
UniProt peptide Q68DV7
alteration type single base exchange
alteration region CDS
DNA changes c.1252C>A
cDNA.3208C>A
g.59072C>A
AA changes L418M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 418
frameshift no
known variant Reference ID: rs2526374
databasehomozygous (T/T)heterozygousallele carriers
1000G41511711586
ExAC94431388123324
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1160.012
2.1320.069
(flanking)-0.790.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased59075wt: 0.9892 / mu: 0.9934 (marginal change - not scored)wt: GACTGAGCCACCTCC
mu: GAATGAGCCACCTCC		 CTGA|gcca
Donor gained590670.38mu: AGGCTGGGGAATGAG GCTG|ggga
Donor gained590680.40mu: GGCTGGGGAATGAGC CTGG|ggaa
distance from splice site 300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      418GAQHPYAQGWGLSHLQSTSQHPAA
mutated  all conserved    418GAQHPYAQGWGMSH
Ptroglodytes  all identical  ENSPTRG00000034322  418GAQHPYAQGWGLSH
Mmulatta  all identical  ENSMMUG00000007004  420GAQHPYAQGWGLSHLQSTSQHPA
Fcatus  all identical  ENSFCAG00000012267  418VAQHPYAQGWGLGR
Mmusculus  all identical  ENSMUSG00000034177  418VSPHPYAQGWGLNR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  Y47D3B.11  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
219783TOPO_DOMCytoplasmic (Potential).lost
443503COMPBIASSer-rich.might get lost (downstream of altered splice site)
547557COMPBIASHis-rich.might get lost (downstream of altered splice site)
569760COMPBIASPro-rich.might get lost (downstream of altered splice site)
600600CONFLICTR -> G (in Ref. 1; BAD51435 and 2; BAA91085).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2352 / 2352
position (AA) of stopcodon in wt / mu AA sequence 784 / 784
position of stopcodon in wt / mu cDNA 4308 / 4308
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 1957 / 1957
chromosome 17
strand -1
last intron/exon boundary 4265
theoretical NMD boundary in CDS 2258
length of CDS 2352
coding sequence (CDS) position 1252
cDNA position
(for ins/del: last normal base / first normal base)		 3208
gDNA position
(for ins/del: last normal base / first normal base)		 59072
chromosomal position
(for ins/del: last normal base / first normal base)		 56435885
original gDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered gDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
original cDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered cDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
wildtype AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQSHPLYL CNASDDDNLE PGFISIVKLE SPRRAPRPCL
SLASKARMAG ERGASAVLFD ITEDRAAAEQ LQQPLGLTWP VVLIWGNDAE KLMEFVYKNQ
KAHVRIELKE PPAWPDYDVW ILMTVVGTIF VIILASVLRI RCRPRHSRPD PLQQRTAWAI
SQLATRRYQA SCRQARGEWP DSGSSCSSAP VCAICLEEFS EGQELRVISC LHEFHRNCVD
PWLHQHRTCP LCMFNITEGD SFSQSLGPSR SYQEPGRRLH LIRQHPGHAH YHLPAAYLLG
PSRSAVARPP RPGPFLPSQE PGMGPRHHRF PRAAHPRAPG EQQRLAGAQH PYAQGWGLSH
LQSTSQHPAA CPVPLRRARP PDSSGSGESY CTERSGYLAD GPASDSSSGP CHGSSSDSVV
NCTDISLQGV HGSSSTFCSS LSSDFDPLVY CSPKGDPQRV DMQPSVTSRP RSLDSVVPTG
ETQVSSHVHY HRHRHHHYKK RFQWHGRKPG PETGVPQSRP PIPRTQPQPE PPSPDQQVTR
SNSAAPSGRL SNPQCPRALP EPAPGPVDAS SICPSTSSLF NLQKSSLSAR HPQRKRRGGP
SEPTPGSRPQ DATVHPACQI FPHYTPSVAY PWSPEAHPLI CGPPGLDKRL LPETPGPCYS
NSQPVWLCLT PRQPLEPHPP GEGPSEWSSD TAEGRPCPYP HCQVLSAQPG SEEELEELCE
QAV*
mutated AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQSHPLYL CNASDDDNLE PGFISIVKLE SPRRAPRPCL
SLASKARMAG ERGASAVLFD ITEDRAAAEQ LQQPLGLTWP VVLIWGNDAE KLMEFVYKNQ
KAHVRIELKE PPAWPDYDVW ILMTVVGTIF VIILASVLRI RCRPRHSRPD PLQQRTAWAI
SQLATRRYQA SCRQARGEWP DSGSSCSSAP VCAICLEEFS EGQELRVISC LHEFHRNCVD
PWLHQHRTCP LCMFNITEGD SFSQSLGPSR SYQEPGRRLH LIRQHPGHAH YHLPAAYLLG
PSRSAVARPP RPGPFLPSQE PGMGPRHHRF PRAAHPRAPG EQQRLAGAQH PYAQGWGMSH
LQSTSQHPAA CPVPLRRARP PDSSGSGESY CTERSGYLAD GPASDSSSGP CHGSSSDSVV
NCTDISLQGV HGSSSTFCSS LSSDFDPLVY CSPKGDPQRV DMQPSVTSRP RSLDSVVPTG
ETQVSSHVHY HRHRHHHYKK RFQWHGRKPG PETGVPQSRP PIPRTQPQPE PPSPDQQVTR
SNSAAPSGRL SNPQCPRALP EPAPGPVDAS SICPSTSSLF NLQKSSLSAR HPQRKRRGGP
SEPTPGSRPQ DATVHPACQI FPHYTPSVAY PWSPEAHPLI CGPPGLDKRL LPETPGPCYS
NSQPVWLCLT PRQPLEPHPP GEGPSEWSSD TAEGRPCPYP HCQVLSAQPG SEEELEELCE
QAV*
speed 1.04 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: 0.999999993264682 (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) chr17:56435885G>TN/A show variant in all transcripts   IGV
HGNC symbol RNF43
Ensembl transcript ID ENST00000577716
Genbank transcript ID N/A
UniProt peptide Q68DV7
alteration type single base exchange
alteration region CDS
DNA changes c.1252C>A
cDNA.2000C>A
g.59072C>A
AA changes L418M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 418
frameshift no
known variant Reference ID: rs2526374
databasehomozygous (T/T)heterozygousallele carriers
1000G41511711586
ExAC94431388123324
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1160.012
2.1320.069
(flanking)-0.790.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased59075wt: 0.9892 / mu: 0.9934 (marginal change - not scored)wt: GACTGAGCCACCTCC
mu: GAATGAGCCACCTCC		 CTGA|gcca
Donor gained590670.38mu: AGGCTGGGGAATGAG GCTG|ggga
Donor gained590680.40mu: GGCTGGGGAATGAGC CTGG|ggaa
distance from splice site 300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      418GAQHPYAQGWGLSHLQSTSQHPAA
mutated  all conserved    418GAQHPYAQGWGMSH
Ptroglodytes  all identical  ENSPTRG00000034322  418GAQHPYAQGWGLSH
Mmulatta  all identical  ENSMMUG00000007004  420GAQHPYAQGWGLSHLQSTSQHPA
Fcatus  all identical  ENSFCAG00000012267  418VAQHPYAQGWGLGR
Mmusculus  all identical  ENSMUSG00000034177  418VSPHPYAQGWGLNR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  Y47D3B.11  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
219783TOPO_DOMCytoplasmic (Potential).lost
443503COMPBIASSer-rich.might get lost (downstream of altered splice site)
547557COMPBIASHis-rich.might get lost (downstream of altered splice site)
569760COMPBIASPro-rich.might get lost (downstream of altered splice site)
600600CONFLICTR -> G (in Ref. 1; BAD51435 and 2; BAA91085).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2352 / 2352
position (AA) of stopcodon in wt / mu AA sequence 784 / 784
position of stopcodon in wt / mu cDNA 3100 / 3100
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 749 / 749
chromosome 17
strand -1
last intron/exon boundary 3057
theoretical NMD boundary in CDS 2258
length of CDS 2352
coding sequence (CDS) position 1252
cDNA position
(for ins/del: last normal base / first normal base)		 2000
gDNA position
(for ins/del: last normal base / first normal base)		 59072
chromosomal position
(for ins/del: last normal base / first normal base)		 56435885
original gDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered gDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
original cDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered cDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
wildtype AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQSHPLYL CNASDDDNLE PGFISIVKLE SPRRAPRPCL
SLASKARMAG ERGASAVLFD ITEDRAAAEQ LQQPLGLTWP VVLIWGNDAE KLMEFVYKNQ
KAHVRIELKE PPAWPDYDVW ILMTVVGTIF VIILASVLRI RCRPRHSRPD PLQQRTAWAI
SQLATRRYQA SCRQARGEWP DSGSSCSSAP VCAICLEEFS EGQELRVISC LHEFHRNCVD
PWLHQHRTCP LCMFNITEGD SFSQSLGPSR SYQEPGRRLH LIRQHPGHAH YHLPAAYLLG
PSRSAVARPP RPGPFLPSQE PGMGPRHHRF PRAAHPRAPG EQQRLAGAQH PYAQGWGLSH
LQSTSQHPAA CPVPLRRARP PDSSGSGESY CTERSGYLAD GPASDSSSGP CHGSSSDSVV
NCTDISLQGV HGSSSTFCSS LSSDFDPLVY CSPKGDPQRV DMQPSVTSRP RSLDSVVPTG
ETQVSSHVHY HRHRHHHYKK RFQWHGRKPG PETGVPQSRP PIPRTQPQPE PPSPDQQVTR
SNSAAPSGRL SNPQCPRALP EPAPGPVDAS SICPSTSSLF NLQKSSLSAR HPQRKRRGGP
SEPTPGSRPQ DATVHPACQI FPHYTPSVAY PWSPEAHPLI CGPPGLDKRL LPETPGPCYS
NSQPVWLCLT PRQPLEPHPP GEGPSEWSSD TAEGRPCPYP HCQVLSAQPG SEEELEELCE
QAV*
mutated AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQSHPLYL CNASDDDNLE PGFISIVKLE SPRRAPRPCL
SLASKARMAG ERGASAVLFD ITEDRAAAEQ LQQPLGLTWP VVLIWGNDAE KLMEFVYKNQ
KAHVRIELKE PPAWPDYDVW ILMTVVGTIF VIILASVLRI RCRPRHSRPD PLQQRTAWAI
SQLATRRYQA SCRQARGEWP DSGSSCSSAP VCAICLEEFS EGQELRVISC LHEFHRNCVD
PWLHQHRTCP LCMFNITEGD SFSQSLGPSR SYQEPGRRLH LIRQHPGHAH YHLPAAYLLG
PSRSAVARPP RPGPFLPSQE PGMGPRHHRF PRAAHPRAPG EQQRLAGAQH PYAQGWGMSH
LQSTSQHPAA CPVPLRRARP PDSSGSGESY CTERSGYLAD GPASDSSSGP CHGSSSDSVV
NCTDISLQGV HGSSSTFCSS LSSDFDPLVY CSPKGDPQRV DMQPSVTSRP RSLDSVVPTG
ETQVSSHVHY HRHRHHHYKK RFQWHGRKPG PETGVPQSRP PIPRTQPQPE PPSPDQQVTR
SNSAAPSGRL SNPQCPRALP EPAPGPVDAS SICPSTSSLF NLQKSSLSAR HPQRKRRGGP
SEPTPGSRPQ DATVHPACQI FPHYTPSVAY PWSPEAHPLI CGPPGLDKRL LPETPGPCYS
NSQPVWLCLT PRQPLEPHPP GEGPSEWSSD TAEGRPCPYP HCQVLSAQPG SEEELEELCE
QAV*
speed 1.19 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: 0.999999993264682 (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) chr17:56435885G>TN/A show variant in all transcripts   IGV
HGNC symbol RNF43
Ensembl transcript ID ENST00000500597
Genbank transcript ID N/A
UniProt peptide Q68DV7
alteration type single base exchange
alteration region CDS
DNA changes c.1129C>A
cDNA.1617C>A
g.59072C>A
AA changes L377M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 377
frameshift no
known variant Reference ID: rs2526374
databasehomozygous (T/T)heterozygousallele carriers
1000G41511711586
ExAC94431388123324
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1160.012
2.1320.069
(flanking)-0.790.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased59075wt: 0.9892 / mu: 0.9934 (marginal change - not scored)wt: GACTGAGCCACCTCC
mu: GAATGAGCCACCTCC		 CTGA|gcca
Donor gained590670.38mu: AGGCTGGGGAATGAG GCTG|ggga
Donor gained590680.40mu: GGCTGGGGAATGAGC CTGG|ggaa
distance from splice site 300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      377GAQHPYAQGWGLSHLQSTSQHPAA
mutated  all conserved    377GAQHPYAQGWGMSHLQSTSQHPA
Ptroglodytes  all identical  ENSPTRG00000034322  418GAQHPYAQGWGLSH
Mmulatta  all identical  ENSMMUG00000007004  420GAQHPYAQGWGLSHLQSTSQHPA
Fcatus  all identical  ENSFCAG00000012267  418VAQHPYAQGWGLGR
Mmusculus  all identical  ENSMUSG00000034177  418VSPHPYAQGWGLNR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  Y47D3B.11  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
219783TOPO_DOMCytoplasmic (Potential).lost
401401CONFLICTE -> K (in Ref. 2; BAH12429).might get lost (downstream of altered splice site)
443503COMPBIASSer-rich.might get lost (downstream of altered splice site)
547557COMPBIASHis-rich.might get lost (downstream of altered splice site)
569760COMPBIASPro-rich.might get lost (downstream of altered splice site)
600600CONFLICTR -> G (in Ref. 1; BAD51435 and 2; BAA91085).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2229 / 2229
position (AA) of stopcodon in wt / mu AA sequence 743 / 743
position of stopcodon in wt / mu cDNA 2717 / 2717
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 489 / 489
chromosome 17
strand -1
last intron/exon boundary 2674
theoretical NMD boundary in CDS 2135
length of CDS 2229
coding sequence (CDS) position 1129
cDNA position
(for ins/del: last normal base / first normal base)		 1617
gDNA position
(for ins/del: last normal base / first normal base)		 59072
chromosomal position
(for ins/del: last normal base / first normal base)		 56435885
original gDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered gDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
original cDNA sequence snippet CCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACC
altered cDNA sequence snippet CCTATGCACAAGGCTGGGGAATGAGCCACCTCCAATCCACC
wildtype AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQARMAGE RGASAVLFDI TEDRAAAEQL QQPLGLTWPV
VLIWGNDAEK LMEFVYKNQK AHVRIELKEP PAWPDYDVWI LMTVVGTIFV IILASVLRIR
CRPRHSRPDP LQQRTAWAIS QLATRRYQAS CRQARGEWPD SGSSCSSAPV CAICLEEFSE
GQELRVISCL HEFHRNCVDP WLHQHRTCPL CMFNITEGDS FSQSLGPSRS YQEPGRRLHL
IRQHPGHAHY HLPAAYLLGP SRSAVARPPR PGPFLPSQEP GMGPRHHRFP RAAHPRAPGE
QQRLAGAQHP YAQGWGLSHL QSTSQHPAAC PVPLRRARPP DSSGSGESYC TERSGYLADG
PASDSSSGPC HGSSSDSVVN CTDISLQGVH GSSSTFCSSL SSDFDPLVYC SPKGDPQRVD
MQPSVTSRPR SLDSVVPTGE TQVSSHVHYH RHRHHHYKKR FQWHGRKPGP ETGVPQSRPP
IPRTQPQPEP PSPDQQVTRS NSAAPSGRLS NPQCPRALPE PAPGPVDASS ICPSTSSLFN
LQKSSLSARH PQRKRRGGPS EPTPGSRPQD ATVHPACQIF PHYTPSVAYP WSPEAHPLIC
GPPGLDKRLL PETPGPCYSN SQPVWLCLTP RQPLEPHPPG EGPSEWSSDT AEGRPCPYPH
CQVLSAQPGS EEELEELCEQ AV*
mutated AA sequence MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQARMAGE RGASAVLFDI TEDRAAAEQL QQPLGLTWPV
VLIWGNDAEK LMEFVYKNQK AHVRIELKEP PAWPDYDVWI LMTVVGTIFV IILASVLRIR
CRPRHSRPDP LQQRTAWAIS QLATRRYQAS CRQARGEWPD SGSSCSSAPV CAICLEEFSE
GQELRVISCL HEFHRNCVDP WLHQHRTCPL CMFNITEGDS FSQSLGPSRS YQEPGRRLHL
IRQHPGHAHY HLPAAYLLGP SRSAVARPPR PGPFLPSQEP GMGPRHHRFP RAAHPRAPGE
QQRLAGAQHP YAQGWGMSHL QSTSQHPAAC PVPLRRARPP DSSGSGESYC TERSGYLADG
PASDSSSGPC HGSSSDSVVN CTDISLQGVH GSSSTFCSSL SSDFDPLVYC SPKGDPQRVD
MQPSVTSRPR SLDSVVPTGE TQVSSHVHYH RHRHHHYKKR FQWHGRKPGP ETGVPQSRPP
IPRTQPQPEP PSPDQQVTRS NSAAPSGRLS NPQCPRALPE PAPGPVDASS ICPSTSSLFN
LQKSSLSARH PQRKRRGGPS EPTPGSRPQD ATVHPACQIF PHYTPSVAYP WSPEAHPLIC
GPPGLDKRLL PETPGPCYSN SQPVWLCLTP RQPLEPHPPG EGPSEWSSDT AEGRPCPYPH
CQVLSAQPGS EEELEELCEQ AV*
speed 0.63 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
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Problems