Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.876601728659361 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM990501)
  • known disease mutation: rs9133 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21546501G>AN/A show variant in all transcripts   IGV
HGNC symbol ECE1
Ensembl transcript ID ENST00000436918
Genbank transcript ID N/A
UniProt peptide P42892
alteration type single base exchange
alteration region CDS
DNA changes c.2164C>T
cDNA.2214C>T
g.125497C>T
AA changes R722C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 722
frameshift no
known variant Reference ID: rs3026906
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC02626

known disease mutation: rs9133 (pathogenic for Hirschsprung disease, cardiac defects, and autonomic dysfunction) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990501)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990501)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990501)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1580.959
1.8070.998
(flanking)1.3241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased125508wt: 0.9681 / mu: 0.9766 (marginal change - not scored)wt: GAACACTTCCGCTGCCCACCTGGCTCACCCATGAACCCGCC
mu: GAACACTTCTGCTGCCCACCTGGCTCACCCATGAACCCGCC		 acct|GGCT
Acc increased125504wt: 0.41 / mu: 0.48wt: CTCAGAACACTTCCGCTGCCCACCTGGCTCACCCATGAACC
mu: CTCAGAACACTTCTGCTGCCCACCTGGCTCACCCATGAACC		 gccc|ACCT
distance from splice site 115
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      722LSNSKEFSEHFRCPPGSPMNPPHK
mutated  not conserved    722FCCPPGSPMNPPH
Ptroglodytes  not conserved  ENSPTRG00000000298  754LSNSKEFSEHFHCPLGSPMNPPH
Mmulatta  not conserved  ENSMMUG00000010942  751LSNSKEFSEHFHCSPGSPMNPPH
Fcatus  not conserved  ENSFCAG00000014530  736VSNSKEFSEHFHCPPGSPMNPHH
Mmusculus  all identical  ENSMUSG00000057530  737LSNSKEFSEHFRCPPGSPMNPHH
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000012021  754ISNSREFSEHFGCKADAPMNPRH
Drerio  not conserved  ENSDARG00000061737  781ISNSHEFSEHFGCKADSPMNPKR
Dmelanogaster  all conserved  FBgn0031081  759LSNMKEFAEVFQCKPGKR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000023235  528VSNSQEFAEHFRCPPGSPMNPRN
protein features
start (aa)end (aa)featuredetails 
90770TOPO_DOMExtracellular (Potential).lost
720729HELIXlost
735744HELIXmight get lost (downstream of altered splice site)
747753HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2217 / 2217
position (AA) of stopcodon in wt / mu AA sequence 739 / 739
position of stopcodon in wt / mu cDNA 2267 / 2267
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 51 / 51
chromosome 1
strand -1
last intron/exon boundary 2091
theoretical NMD boundary in CDS 1990
length of CDS 2217
coding sequence (CDS) position 2164
cDNA position
(for ins/del: last normal base / first normal base)		 2214
gDNA position
(for ins/del: last normal base / first normal base)		 125497
chromosomal position
(for ins/del: last normal base / first normal base)		 21546501
original gDNA sequence snippet AGGAGTTCTCAGAACACTTCCGCTGCCCACCTGGCTCACCC
altered gDNA sequence snippet AGGAGTTCTCAGAACACTTCTGCTGCCCACCTGGCTCACCC
original cDNA sequence snippet AGGAGTTCTCAGAACACTTCCGCTGCCCACCTGGCTCACCC
altered cDNA sequence snippet AGGAGTTCTCAGAACACTTCTGCTGCCCACCTGGCTCACCC
wildtype AA sequence MRGVWPPPVS ALLSALGMST YKRATLDEED LVDSLSEGDA YPNGLQVNFH SPRSGQRCWA
ARTQVEKRLV VLVVLLAAGL VACLAALGIQ YQTRSPSVCL SEACVSVTSS ILSSMDPTVD
PCHDFFSYAC GGWIKANPVP DGHSRWGTFS NLWEHNQAII KHLLENSTAS VSEAERKAQV
YYRACMNETR IEELRAKPLM ELIERLGGWN ITGPWAKDNF QDTLQVVTAH YRTSPFFSVY
VSADSKNSNS NVIQVDQSGL GLPSRDYYLN KTENEKVLTG YLNYMVQLGK LLGGGDEEAI
RPQMQQILDF ETALANITIP QEKRRDEELI YHKVTAAELQ TLAPAINWLP FLNTIFYPVE
INESEPIVVY DKEYLEQIST LINTTDRCLL NNYMIWNLVR KTSSFLDQRF QDADEKFMEV
MYGTKKTCLP RWKFCVSDTE NNLGFALGPM FVKATFAEDS KSIATEIILE IKKAFEESLS
TLKWMDEETR KSAKEKADAI YNMIGYPNFI MDPKELDKVF NDYTAVPDLY FENAMRFFNF
SWRVTADQLR KAPNRDQWSM TPPMVNAYYS PTKNEIVFPA GILQAPFYTR SSPKALNFGG
IGVVVGHELT HAFDDQGREY DKDGNLRPWW KNSSVEAFKR QTECMVEQYS NYSVNGEPVN
GRHTLGENIA DNGGLKAAYR VWCSVRTPES SHEGLITDPH SPSRFRVIGS LSNSKEFSEH
FRCPPGSPMN PPHKCEVW*
mutated AA sequence MRGVWPPPVS ALLSALGMST YKRATLDEED LVDSLSEGDA YPNGLQVNFH SPRSGQRCWA
ARTQVEKRLV VLVVLLAAGL VACLAALGIQ YQTRSPSVCL SEACVSVTSS ILSSMDPTVD
PCHDFFSYAC GGWIKANPVP DGHSRWGTFS NLWEHNQAII KHLLENSTAS VSEAERKAQV
YYRACMNETR IEELRAKPLM ELIERLGGWN ITGPWAKDNF QDTLQVVTAH YRTSPFFSVY
VSADSKNSNS NVIQVDQSGL GLPSRDYYLN KTENEKVLTG YLNYMVQLGK LLGGGDEEAI
RPQMQQILDF ETALANITIP QEKRRDEELI YHKVTAAELQ TLAPAINWLP FLNTIFYPVE
INESEPIVVY DKEYLEQIST LINTTDRCLL NNYMIWNLVR KTSSFLDQRF QDADEKFMEV
MYGTKKTCLP RWKFCVSDTE NNLGFALGPM FVKATFAEDS KSIATEIILE IKKAFEESLS
TLKWMDEETR KSAKEKADAI YNMIGYPNFI MDPKELDKVF NDYTAVPDLY FENAMRFFNF
SWRVTADQLR KAPNRDQWSM TPPMVNAYYS PTKNEIVFPA GILQAPFYTR SSPKALNFGG
IGVVVGHELT HAFDDQGREY DKDGNLRPWW KNSSVEAFKR QTECMVEQYS NYSVNGEPVN
GRHTLGENIA DNGGLKAAYR VWCSVRTPES SHEGLITDPH SPSRFRVIGS LSNSKEFSEH
FCCPPGSPMN PPHKCEVW*
speed 0.87 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