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: ENST00000415912
Querying Taster for transcript #2: ENST00000357071
Querying Taster for transcript #3: ENST00000374893
Querying Taster for transcript #4: ENST00000436918
Querying Taster for transcript #5: ENST00000264205
MT speed 0 s - this script 8.227393 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ECE1disease_causing_automatic0.538237340666718simple_aaeaffected0R754Csingle base exchangers3026906show file
ECE1disease_causing_automatic0.87660172865936simple_aaeaffected0R738Csingle base exchangers3026906show file
ECE1disease_causing_automatic0.87660172865936simple_aaeaffected0R742Csingle base exchangers3026906show file
ECE1disease_causing_automatic0.87660172865936simple_aaeaffected0R722Csingle base exchangers3026906show file
ECE1disease_causing_automatic0.87660172865936simple_aaeaffected0R751Csingle base exchangers3026906show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.538237340666718 (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 ENST00000374893
Genbank transcript ID NM_001397
UniProt peptide P42892
alteration type single base exchange
alteration region CDS
DNA changes c.2260C>T
cDNA.2335C>T
g.125497C>T
AA changes R754C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS
754
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 increased125504wt: 0.41 / mu: 0.48wt: CTCAGAACACTTCCGCTGCCCACCTGGCTCACCCATGAACC
mu: CTCAGAACACTTCTGCTGCCCACCTGGCTCACCCATGAACC
 gccc|ACCT
Acc marginally increased125508wt: 0.9681 / mu: 0.9766 (marginal change - not scored)wt: GAACACTTCCGCTGCCCACCTGGCTCACCCATGAACCCGCC
mu: GAACACTTCTGCTGCCCACCTGGCTCACCCATGAACCCGCC
 acct|GGCT
distance from splice site 124
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      754LSNSKEFSEHFRCPPGSPMNPPHK
mutated  not conserved    754LSNSKEFSEHFCCPPGSPMNPPH
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  770LSNMKEFAEVFQCKPGKR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000023235  528VSNSQEFAEHFRCPPGSPMNPRN
protein features
start (aa)end (aa)featuredetails 
90770TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2313 / 2313
position (AA) of stopcodon in wt / mu AA sequence 771 / 771
position of stopcodon in wt / mu cDNA 2388 / 2388
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 76 / 76
chromosome 1
strand -1
last intron/exon boundary 2212
theoretical NMD boundary in CDS 2086
length of CDS 2313
coding sequence (CDS) position 2260
cDNA position
(for ins/del: last normal base / first normal base)
2335
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 AYQNWVKKNG AEHSLPTLGL TNNQLFFLGF AQVWCSVRTP
ESSHEGLITD PHSPSRFRVI GSLSNSKEFS EHFRCPPGSP MNPPHKCEVW *
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 AYQNWVKKNG AEHSLPTLGL TNNQLFFLGF AQVWCSVRTP
ESSHEGLITD PHSPSRFRVI GSLSNSKEFS EHFCCPPGSP MNPPHKCEVW *
speed 1.66 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

disease causing

Model: simple_aae, prob: 0.87660172865936 (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 ENST00000415912
Genbank transcript ID NM_001113348
UniProt peptide P42892
alteration type single base exchange
alteration region CDS
DNA changes c.2212C>T
cDNA.2338C>T
g.125497C>T
AA changes R738C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS
738
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 increased125504wt: 0.41 / mu: 0.48wt: CTCAGAACACTTCCGCTGCCCACCTGGCTCACCCATGAACC
mu: CTCAGAACACTTCTGCTGCCCACCTGGCTCACCCATGAACC
 gccc|ACCT
Acc marginally increased125508wt: 0.9681 / mu: 0.9766 (marginal change - not scored)wt: GAACACTTCCGCTGCCCACCTGGCTCACCCATGAACCCGCC
mu: GAACACTTCTGCTGCCCACCTGGCTCACCCATGAACCCGCC
 acct|GGCT
distance from splice site 124
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      738LSNSKEFSEHFRCPPGSPMNPPHK
mutated  not conserved    738LSNSKEFSEHFCCPPGSPMNPPH
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  770LSNMKEFAEVFQCKPGKR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000023235  528VSNSQEFAEHFRCPPGSPMNPRN
protein features
start (aa)end (aa)featuredetails 
90770TOPO_DOMExtracellular (Potential).lost
735744HELIXlost
747753HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2265 / 2265
position (AA) of stopcodon in wt / mu AA sequence 755 / 755
position of stopcodon in wt / mu cDNA 2391 / 2391
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 127 / 127
chromosome 1
strand -1
last intron/exon boundary 2215
theoretical NMD boundary in CDS 2038
length of CDS 2265
coding sequence (CDS) position 2212
cDNA position
(for ins/del: last normal base / first normal base)
2338
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 MMSTYKRATL DEEDLVDSLS EGDAYPNGLQ VNFHSPRSGQ RCWAARTQVE KRLVVLVVLL
AAGLVACLAA LGIQYQTRSP SVCLSEACVS VTSSILSSMD PTVDPCHDFF SYACGGWIKA
NPVPDGHSRW GTFSNLWEHN QAIIKHLLEN STASVSEAER KAQVYYRACM NETRIEELRA
KPLMELIERL GGWNITGPWA KDNFQDTLQV VTAHYRTSPF FSVYVSADSK NSNSNVIQVD
QSGLGLPSRD YYLNKTENEK VLTGYLNYMV QLGKLLGGGD EEAIRPQMQQ ILDFETALAN
ITIPQEKRRD EELIYHKVTA AELQTLAPAI NWLPFLNTIF YPVEINESEP IVVYDKEYLE
QISTLINTTD RCLLNNYMIW NLVRKTSSFL DQRFQDADEK FMEVMYGTKK TCLPRWKFCV
SDTENNLGFA LGPMFVKATF AEDSKSIATE IILEIKKAFE ESLSTLKWMD EETRKSAKEK
ADAIYNMIGY PNFIMDPKEL DKVFNDYTAV PDLYFENAMR FFNFSWRVTA DQLRKAPNRD
QWSMTPPMVN AYYSPTKNEI VFPAGILQAP FYTRSSPKAL NFGGIGVVVG HELTHAFDDQ
GREYDKDGNL RPWWKNSSVE AFKRQTECMV EQYSNYSVNG EPVNGRHTLG ENIADNGGLK
AAYRAYQNWV KKNGAEHSLP TLGLTNNQLF FLGFAQVWCS VRTPESSHEG LITDPHSPSR
FRVIGSLSNS KEFSEHFRCP PGSPMNPPHK CEVW*
mutated AA sequence MMSTYKRATL DEEDLVDSLS EGDAYPNGLQ VNFHSPRSGQ RCWAARTQVE KRLVVLVVLL
AAGLVACLAA LGIQYQTRSP SVCLSEACVS VTSSILSSMD PTVDPCHDFF SYACGGWIKA
NPVPDGHSRW GTFSNLWEHN QAIIKHLLEN STASVSEAER KAQVYYRACM NETRIEELRA
KPLMELIERL GGWNITGPWA KDNFQDTLQV VTAHYRTSPF FSVYVSADSK NSNSNVIQVD
QSGLGLPSRD YYLNKTENEK VLTGYLNYMV QLGKLLGGGD EEAIRPQMQQ ILDFETALAN
ITIPQEKRRD EELIYHKVTA AELQTLAPAI NWLPFLNTIF YPVEINESEP IVVYDKEYLE
QISTLINTTD RCLLNNYMIW NLVRKTSSFL DQRFQDADEK FMEVMYGTKK TCLPRWKFCV
SDTENNLGFA LGPMFVKATF AEDSKSIATE IILEIKKAFE ESLSTLKWMD EETRKSAKEK
ADAIYNMIGY PNFIMDPKEL DKVFNDYTAV PDLYFENAMR FFNFSWRVTA DQLRKAPNRD
QWSMTPPMVN AYYSPTKNEI VFPAGILQAP FYTRSSPKAL NFGGIGVVVG HELTHAFDDQ
GREYDKDGNL RPWWKNSSVE AFKRQTECMV EQYSNYSVNG EPVNGRHTLG ENIADNGGLK
AAYRAYQNWV KKNGAEHSLP TLGLTNNQLF FLGFAQVWCS VRTPESSHEG LITDPHSPSR
FRVIGSLSNS KEFSEHFCCP PGSPMNPPHK CEVW*
speed 1.80 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

disease causing

Model: simple_aae, prob: 0.87660172865936 (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 ENST00000357071
Genbank transcript ID NM_001113347
UniProt peptide P42892
alteration type single base exchange
alteration region CDS
DNA changes c.2224C>T
cDNA.2339C>T
g.125497C>T
AA changes R742C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS
742
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 increased125504wt: 0.41 / mu: 0.48wt: CTCAGAACACTTCCGCTGCCCACCTGGCTCACCCATGAACC
mu: CTCAGAACACTTCTGCTGCCCACCTGGCTCACCCATGAACC
 gccc|ACCT
Acc marginally increased125508wt: 0.9681 / mu: 0.9766 (marginal change - not scored)wt: GAACACTTCCGCTGCCCACCTGGCTCACCCATGAACCCGCC
mu: GAACACTTCTGCTGCCCACCTGGCTCACCCATGAACCCGCC
 acct|GGCT
distance from splice site 124
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      742LSNSKEFSEHFRCPPGSPMNPPHK
mutated  not conserved    742LSNSKEFSEHFCCPPGSPMNPPH
Ptroglodytes  not conserved  ENSPTRG00000000298  754LSNSKEFSEHFHCPLGSPM
Mmulatta  not conserved  ENSMMUG00000010942  751LSNSKEFSEHFHCSPGSPM
Fcatus  not conserved  ENSFCAG00000014530  736VSNSKEFSEHFHCPPGSPMNPHH
Mmusculus  all identical  ENSMUSG00000057530  737LSNSKEFSEHFRCPPGSPMNPHH
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000012021  754ISNSREFSEHFGCKADAPMNP
Drerio  not conserved  ENSDARG00000061737  781ISNSHEFSEHFGCKADSPMNPKR
Dmelanogaster  all conserved  FBgn0031081  770LSNMKEFAEVFQCKPGKRMNPTE
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000023235  528VSNSQEFAEHFRCPPGSPMNPRN
protein features
start (aa)end (aa)featuredetails 
90770TOPO_DOMExtracellular (Potential).lost
735744HELIXlost
747753HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2277 / 2277
position (AA) of stopcodon in wt / mu AA sequence 759 / 759
position of stopcodon in wt / mu cDNA 2392 / 2392
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 116 / 116
chromosome 1
strand -1
last intron/exon boundary 2216
theoretical NMD boundary in CDS 2050
length of CDS 2277
coding sequence (CDS) position 2224
cDNA position
(for ins/del: last normal base / first normal base)
2339
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 MPLQGLGLQR NPFLQGKRGP GLTSSPPLLP PSLQVNFHSP RSGQRCWAAR TQVEKRLVVL
VVLLAAGLVA CLAALGIQYQ TRSPSVCLSE ACVSVTSSIL SSMDPTVDPC HDFFSYACGG
WIKANPVPDG HSRWGTFSNL WEHNQAIIKH LLENSTASVS EAERKAQVYY RACMNETRIE
ELRAKPLMEL IERLGGWNIT GPWAKDNFQD TLQVVTAHYR TSPFFSVYVS ADSKNSNSNV
IQVDQSGLGL PSRDYYLNKT ENEKVLTGYL NYMVQLGKLL GGGDEEAIRP QMQQILDFET
ALANITIPQE KRRDEELIYH KVTAAELQTL APAINWLPFL NTIFYPVEIN ESEPIVVYDK
EYLEQISTLI NTTDRCLLNN YMIWNLVRKT SSFLDQRFQD ADEKFMEVMY GTKKTCLPRW
KFCVSDTENN LGFALGPMFV KATFAEDSKS IATEIILEIK KAFEESLSTL KWMDEETRKS
AKEKADAIYN MIGYPNFIMD PKELDKVFND YTAVPDLYFE NAMRFFNFSW RVTADQLRKA
PNRDQWSMTP PMVNAYYSPT KNEIVFPAGI LQAPFYTRSS PKALNFGGIG VVVGHELTHA
FDDQGREYDK DGNLRPWWKN SSVEAFKRQT ECMVEQYSNY SVNGEPVNGR HTLGENIADN
GGLKAAYRAY QNWVKKNGAE HSLPTLGLTN NQLFFLGFAQ VWCSVRTPES SHEGLITDPH
SPSRFRVIGS LSNSKEFSEH FRCPPGSPMN PPHKCEVW*
mutated AA sequence MPLQGLGLQR NPFLQGKRGP GLTSSPPLLP PSLQVNFHSP RSGQRCWAAR TQVEKRLVVL
VVLLAAGLVA CLAALGIQYQ TRSPSVCLSE ACVSVTSSIL SSMDPTVDPC HDFFSYACGG
WIKANPVPDG HSRWGTFSNL WEHNQAIIKH LLENSTASVS EAERKAQVYY RACMNETRIE
ELRAKPLMEL IERLGGWNIT GPWAKDNFQD TLQVVTAHYR TSPFFSVYVS ADSKNSNSNV
IQVDQSGLGL PSRDYYLNKT ENEKVLTGYL NYMVQLGKLL GGGDEEAIRP QMQQILDFET
ALANITIPQE KRRDEELIYH KVTAAELQTL APAINWLPFL NTIFYPVEIN ESEPIVVYDK
EYLEQISTLI NTTDRCLLNN YMIWNLVRKT SSFLDQRFQD ADEKFMEVMY GTKKTCLPRW
KFCVSDTENN LGFALGPMFV KATFAEDSKS IATEIILEIK KAFEESLSTL KWMDEETRKS
AKEKADAIYN MIGYPNFIMD PKELDKVFND YTAVPDLYFE NAMRFFNFSW RVTADQLRKA
PNRDQWSMTP PMVNAYYSPT KNEIVFPAGI LQAPFYTRSS PKALNFGGIG VVVGHELTHA
FDDQGREYDK DGNLRPWWKN SSVEAFKRQT ECMVEQYSNY SVNGEPVNGR HTLGENIADN
GGLKAAYRAY QNWVKKNGAE HSLPTLGLTN NQLFFLGFAQ VWCSVRTPES SHEGLITDPH
SPSRFRVIGS LSNSKEFSEH FCCPPGSPMN PPHKCEVW*
speed 1.83 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

disease causing

Model: simple_aae, prob: 0.87660172865936 (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 increased125504wt: 0.41 / mu: 0.48wt: CTCAGAACACTTCCGCTGCCCACCTGGCTCACCCATGAACC
mu: CTCAGAACACTTCTGCTGCCCACCTGGCTCACCCATGAACC
 gccc|ACCT
Acc marginally increased125508wt: 0.9681 / mu: 0.9766 (marginal change - not scored)wt: GAACACTTCCGCTGCCCACCTGGCTCACCCATGAACCCGCC
mu: GAACACTTCTGCTGCCCACCTGGCTCACCCATGAACCCGCC
 acct|GGCT
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 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
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Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.87660172865936 (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 ENST00000264205
Genbank transcript ID NM_001113349
UniProt peptide P42892
alteration type single base exchange
alteration region CDS
DNA changes c.2251C>T
cDNA.2310C>T
g.125497C>T
AA changes R751C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS
751
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 increased125504wt: 0.41 / mu: 0.48wt: CTCAGAACACTTCCGCTGCCCACCTGGCTCACCCATGAACC
mu: CTCAGAACACTTCTGCTGCCCACCTGGCTCACCCATGAACC
 gccc|ACCT
Acc marginally increased125508wt: 0.9681 / mu: 0.9766 (marginal change - not scored)wt: GAACACTTCCGCTGCCCACCTGGCTCACCCATGAACCCGCC
mu: GAACACTTCTGCTGCCCACCTGGCTCACCCATGAACCCGCC
 acct|GGCT
distance from splice site 72
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      751LSNSKEFSEHFRCPPGSPMNPPHK
mutated  not conserved    751LSNSKEFSEHFCCPPGSPMNPPH
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  770LSNMKEFAEVFQCKPGKR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000023235  528VSNSQEFAEHFRCPPGSPMNPRN
protein features
start (aa)end (aa)featuredetails 
90770TOPO_DOMExtracellular (Potential).lost
747753HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2304 / 2304
position (AA) of stopcodon in wt / mu AA sequence 768 / 768
position of stopcodon in wt / mu cDNA 2363 / 2363
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 60 / 60
chromosome 1
strand -1
last intron/exon boundary 2187
theoretical NMD boundary in CDS 2077
length of CDS 2304
coding sequence (CDS) position 2251
cDNA position
(for ins/del: last normal base / first normal base)
2310
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 MEALRESVLH LALQMSTYKR ATLDEEDLVD SLSEGDAYPN GLQVNFHSPR SGQRCWAART
QVEKRLVVLV VLLAAGLVAC LAALGIQYQT RSPSVCLSEA CVSVTSSILS SMDPTVDPCH
DFFSYACGGW IKANPVPDGH SRWGTFSNLW EHNQAIIKHL LENSTASVSE AERKAQVYYR
ACMNETRIEE LRAKPLMELI ERLGGWNITG PWAKDNFQDT LQVVTAHYRT SPFFSVYVSA
DSKNSNSNVI QVDQSGLGLP SRDYYLNKTE NEKVLTGYLN YMVQLGKLLG GGDEEAIRPQ
MQQILDFETA LANITIPQEK RRDEELIYHK VTAAELQTLA PAINWLPFLN TIFYPVEINE
SEPIVVYDKE YLEQISTLIN TTDRCLLNNY MIWNLVRKTS SFLDQRFQDA DEKFMEVMYG
TKKTCLPRWK FCVSDTENNL GFALGPMFVK ATFAEDSKSI ATEIILEIKK AFEESLSTLK
WMDEETRKSA KEKADAIYNM IGYPNFIMDP KELDKVFNDY TAVPDLYFEN AMRFFNFSWR
VTADQLRKAP NRDQWSMTPP MVNAYYSPTK NEIVFPAGIL QAPFYTRSSP KALNFGGIGV
VVGHELTHAF DDQGREYDKD GNLRPWWKNS SVEAFKRQTE CMVEQYSNYS VNGEPVNGRH
TLGENIADNG GLKAAYRAYQ NWVKKNGAEH SLPTLGLTNN QLFFLGFAQV WCSVRTPESS
HEGLITDPHS PSRFRVIGSL SNSKEFSEHF RCPPGSPMNP PHKCEVW*
mutated AA sequence MEALRESVLH LALQMSTYKR ATLDEEDLVD SLSEGDAYPN GLQVNFHSPR SGQRCWAART
QVEKRLVVLV VLLAAGLVAC LAALGIQYQT RSPSVCLSEA CVSVTSSILS SMDPTVDPCH
DFFSYACGGW IKANPVPDGH SRWGTFSNLW EHNQAIIKHL LENSTASVSE AERKAQVYYR
ACMNETRIEE LRAKPLMELI ERLGGWNITG PWAKDNFQDT LQVVTAHYRT SPFFSVYVSA
DSKNSNSNVI QVDQSGLGLP SRDYYLNKTE NEKVLTGYLN YMVQLGKLLG GGDEEAIRPQ
MQQILDFETA LANITIPQEK RRDEELIYHK VTAAELQTLA PAINWLPFLN TIFYPVEINE
SEPIVVYDKE YLEQISTLIN TTDRCLLNNY MIWNLVRKTS SFLDQRFQDA DEKFMEVMYG
TKKTCLPRWK FCVSDTENNL GFALGPMFVK ATFAEDSKSI ATEIILEIKK AFEESLSTLK
WMDEETRKSA KEKADAIYNM IGYPNFIMDP KELDKVFNDY TAVPDLYFEN AMRFFNFSWR
VTADQLRKAP NRDQWSMTPP MVNAYYSPTK NEIVFPAGIL QAPFYTRSSP KALNFGGIGV
VVGHELTHAF DDQGREYDKD GNLRPWWKNS SVEAFKRQTE CMVEQYSNYS VNGEPVNGRH
TLGENIADNG GLKAAYRAYQ NWVKKNGAEH SLPTLGLTNN QLFFLGFAQV WCSVRTPESS
HEGLITDPHS PSRFRVIGSL SNSKEFSEHF CCPPGSPMNP PHKCEVW*
speed 1.65 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