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 1.30 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