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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000349830
Querying Taster for transcript #2: ENST00000520359
Querying Taster for transcript #3: ENST00000518288
Querying Taster for transcript #4: ENST00000398564
Querying Taster for transcript #5: ENST00000262112
Querying Taster for transcript #6: ENST00000398560
MT speed 4.76 s - this script 5.134301 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ARHGEF10disease_causing_automatic0.999998940565496simple_aaeaffected0T332Isingle base exchangers28940281show file
ARHGEF10disease_causing_automatic0.999998940565496simple_aaeaffected0T318Isingle base exchangers28940281show file
ARHGEF10disease_causing_automatic0.999999648550258simple_aaeaffected0T294Isingle base exchangers28940281show file
ARHGEF10disease_causing_automatic0.999999648550258simple_aaeaffected0T357Isingle base exchangers28940281show file
ARHGEF10disease_causing_automatic0.999999648550258simple_aaeaffected0T357Isingle base exchangers28940281show file
ARHGEF10disease_causing_automatic0.999999648550258simple_aaeaffected0T357Isingle base exchangers28940281show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999998940565496 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032833)
  • known disease mutation: rs2526 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:1830835C>TN/A show variant in all transcripts   IGV
HGNC symbol ARHGEF10
Ensembl transcript ID ENST00000349830
Genbank transcript ID NM_014629
UniProt peptide O15013
alteration type single base exchange
alteration region CDS
DNA changes c.995C>T
cDNA.1180C>T
g.58694C>T
AA changes T332I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 332
frameshift no
known variant Reference ID: rs28940281
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2526 (pathogenic for Slowed nerve conduction velocity, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6090.998
5.5661
(flanking)0.110.995
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 increased58692wt: 0.6345 / mu: 0.6937 (marginal change - not scored)wt: GACGGCACCAAGGAC
mu: GACGGCATCAAGGAC		 CGGC|acca
Donor marginally increased58697wt: 0.6117 / mu: 0.6221 (marginal change - not scored)wt: CACCAAGGACGGGCT
mu: CATCAAGGACGGGCT		 CCAA|ggac
Donor gained586980.33mu: ATCAAGGACGGGCTG CAAG|gacg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      332MQKLVKAAKDGTKDGLERTRAAVK
mutated  not conserved    332MQKLVKAAKDGIKDGLERTRAAV
Ptroglodytes  all identical  ENSPTRG00000019942  357MQKLVKAAKDGTKDGLERTRAAV
Mmulatta  all identical  ENSMMUG00000009472  332MQKLVKAAKDGTKDGLERTRAAV
Fcatus  all identical  ENSFCAG00000012553  245AKEGTKDGLEKTKAAV
Mmusculus  all identical  ENSMUSG00000071176  333MQKLMKAAKEGTKDGLEKTKAAV
Ggallus  all identical  ENSGALG00000016350  341MQKLMRAAREGTKDGLEKTKAAV
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000077788  411MQRLVKAAKDGT
Dmelanogaster  no homologue    
Celegans  no alignment  R02F2.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
304355COILEDPotential.lost
379379MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
395395CONFLICTL -> F (in Ref. 5; AAI12927).might get lost (downstream of altered splice site)
421608DOMAINDH.might get lost (downstream of altered splice site)
500500CONFLICTD -> V (in Ref. 5; AAH40474).might get lost (downstream of altered splice site)
10241024CONFLICTT -> S (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
10461046CONFLICTS -> T (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
12711304COMPBIASSer-rich.might get lost (downstream of altered splice site)
12841284MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12871287MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4035 / 4035
position (AA) of stopcodon in wt / mu AA sequence 1345 / 1345
position of stopcodon in wt / mu cDNA 4220 / 4220
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 186 / 186
chromosome 8
strand 1
last intron/exon boundary 3706
theoretical NMD boundary in CDS 3470
length of CDS 4035
coding sequence (CDS) position 995
cDNA position
(for ins/del: last normal base / first normal base)		 1180
gDNA position
(for ins/del: last normal base / first normal base)		 58694
chromosomal position
(for ins/del: last normal base / first normal base)		 1830835
original gDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered gDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
original cDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered cDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
wildtype AA sequence MDQREPLPPA PAENEMKYDT NNNEEEEGEQ FDFDSGDEIP EADRQAPSAP ETGGAGASEA
PAPTGGEDGA GAETTPVAEP TKLVLPMKVN PYSVIDITPF QEDQPPTPVP SAEEENVGLH
VPCGYLVPVP CGYAVPSNLP LLLPAYSSPV IICATSLDEE ETPEVTEDRQ PNSLSSEEPP
TSEDQVGRED SALARWAADP ANTAWMENPE EAIYDDVPRE NSDSEPDEMI YDDVENGDEG
GNSSLEYGWS SSEFESYEEQ SDSECKNGIP RSFLRSNHKK QLSHDLTRLK EHYEKKMRDL
MASTVGVVEI QQLRQKHELK MQKLVKAAKD GTKDGLERTR AAVKRGRSFI RTKSLIAQDH
RSSLEEEQNL FIDVDCKHPE AILTPMPEGL SQQQVVRRYI LGSVVDSEKN YVDALKRILE
QYEKPLSEME PKVLSERKLK TVFYRVKEIL QCHSLFQIAL ASRVSEWDSV EMIGDVFVAS
FSKSMVLDAY SEYVNNFSTA VAVLKKTCAT KPAFLEFLKQ EQEASPDRTT LYSLMMKPIQ
RFPQFILLLQ DMLKNTSKGH PDRLPLQMAL TELETLAEKL NERKRDADQR CEVKQIAKAI
NERYLNKLLS SGSRYLIRSD DMIETVYNDR GEIVKTKERR VFMLNDVLMC ATVSSRPSHD
SRVMSSQRYL LKWSVPLGHV DAIEYGSSAG TGEHSRHLAV HPPESLAVVA NAKPNKVYMG
PGQLYQDLQN LLHDLNVIGQ ITQLIGNLKG NYQNLNQSVA HDWTSGLQRL ILKKEDEIRA
ADCCRIQLQL PGKQDKSGRP TFFTAVFNTF TPAIKESWVN SLQMAKLALE EENHMGWFCV
EDDGNHIKKE KHPLLVGHMP VMVAKQQEFK IECAAYNPEP YLNNESQPDS FSTAHGFLWI
GSCTHQMGQI AIVSFQNSTP KVIECFNVES RILCMLYVPV EEKRREPGAP PDPETPAVRA
SDVPTICVGT EEGSISIYKS SQGSKKVRLQ HFFTPEKSTV MSLACTSQSL YAGLVNGAVA
SYARAPDGSW DSEPQKVIKL GVLPVRSLLM MEDTLWAASG GQVFIISVET HAVEGQLEAH
QEEGMVISHM AVSGVGIWIA FTSGSTLRLF HTETLKHLQD INIATPVHNM LPGHQRLSVT
SLLVCHGLLM VGTSLGVLVA LPVPRLQGIP KVTGRGMVSY HAHNSPVKFI VLATALHEKD
KDKSRDSLAP GPEPQDEDQK DALPSGGAGS SLSQGDPDAA IWLGDSLGSM TQKSDLSSSS
GSLSLSHGSS SLEHRSEDST IYDLLKDPVS LRSKARRAKK AKASSALVVC GGQGHRRVHR
KARQPHQEEL APTVMVWQIP LLNI*
mutated AA sequence MDQREPLPPA PAENEMKYDT NNNEEEEGEQ FDFDSGDEIP EADRQAPSAP ETGGAGASEA
PAPTGGEDGA GAETTPVAEP TKLVLPMKVN PYSVIDITPF QEDQPPTPVP SAEEENVGLH
VPCGYLVPVP CGYAVPSNLP LLLPAYSSPV IICATSLDEE ETPEVTEDRQ PNSLSSEEPP
TSEDQVGRED SALARWAADP ANTAWMENPE EAIYDDVPRE NSDSEPDEMI YDDVENGDEG
GNSSLEYGWS SSEFESYEEQ SDSECKNGIP RSFLRSNHKK QLSHDLTRLK EHYEKKMRDL
MASTVGVVEI QQLRQKHELK MQKLVKAAKD GIKDGLERTR AAVKRGRSFI RTKSLIAQDH
RSSLEEEQNL FIDVDCKHPE AILTPMPEGL SQQQVVRRYI LGSVVDSEKN YVDALKRILE
QYEKPLSEME PKVLSERKLK TVFYRVKEIL QCHSLFQIAL ASRVSEWDSV EMIGDVFVAS
FSKSMVLDAY SEYVNNFSTA VAVLKKTCAT KPAFLEFLKQ EQEASPDRTT LYSLMMKPIQ
RFPQFILLLQ DMLKNTSKGH PDRLPLQMAL TELETLAEKL NERKRDADQR CEVKQIAKAI
NERYLNKLLS SGSRYLIRSD DMIETVYNDR GEIVKTKERR VFMLNDVLMC ATVSSRPSHD
SRVMSSQRYL LKWSVPLGHV DAIEYGSSAG TGEHSRHLAV HPPESLAVVA NAKPNKVYMG
PGQLYQDLQN LLHDLNVIGQ ITQLIGNLKG NYQNLNQSVA HDWTSGLQRL ILKKEDEIRA
ADCCRIQLQL PGKQDKSGRP TFFTAVFNTF TPAIKESWVN SLQMAKLALE EENHMGWFCV
EDDGNHIKKE KHPLLVGHMP VMVAKQQEFK IECAAYNPEP YLNNESQPDS FSTAHGFLWI
GSCTHQMGQI AIVSFQNSTP KVIECFNVES RILCMLYVPV EEKRREPGAP PDPETPAVRA
SDVPTICVGT EEGSISIYKS SQGSKKVRLQ HFFTPEKSTV MSLACTSQSL YAGLVNGAVA
SYARAPDGSW DSEPQKVIKL GVLPVRSLLM MEDTLWAASG GQVFIISVET HAVEGQLEAH
QEEGMVISHM AVSGVGIWIA FTSGSTLRLF HTETLKHLQD INIATPVHNM LPGHQRLSVT
SLLVCHGLLM VGTSLGVLVA LPVPRLQGIP KVTGRGMVSY HAHNSPVKFI VLATALHEKD
KDKSRDSLAP GPEPQDEDQK DALPSGGAGS SLSQGDPDAA IWLGDSLGSM TQKSDLSSSS
GSLSLSHGSS SLEHRSEDST IYDLLKDPVS LRSKARRAKK AKASSALVVC GGQGHRRVHR
KARQPHQEEL APTVMVWQIP LLNI*
speed 0.93 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: 0.999998940565496 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032833)
  • known disease mutation: rs2526 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:1830835C>TN/A show variant in all transcripts   IGV
HGNC symbol ARHGEF10
Ensembl transcript ID ENST00000398560
Genbank transcript ID N/A
UniProt peptide O15013
alteration type single base exchange
alteration region CDS
DNA changes c.953C>T
cDNA.1116C>T
g.58694C>T
AA changes T318I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 318
frameshift no
known variant Reference ID: rs28940281
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2526 (pathogenic for Slowed nerve conduction velocity, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6090.998
5.5661
(flanking)0.110.995
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 increased58692wt: 0.6345 / mu: 0.6937 (marginal change - not scored)wt: GACGGCACCAAGGAC
mu: GACGGCATCAAGGAC		 CGGC|acca
Donor marginally increased58697wt: 0.6117 / mu: 0.6221 (marginal change - not scored)wt: CACCAAGGACGGGCT
mu: CATCAAGGACGGGCT		 CCAA|ggac
Donor gained586980.33mu: ATCAAGGACGGGCTG CAAG|gacg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      318MQKLVKAAKDGTKDGLERTRAAVK
mutated  not conserved    318MQKLVKAAKDGIKDGLERTRAAV
Ptroglodytes  all identical  ENSPTRG00000019942  318MQKLVKAAKDGTKDG
Mmulatta  all identical  ENSMMUG00000009472  311MQKLVKAAKDGTKDGLERTRAAV
Fcatus  all identical  ENSFCAG00000012553  245AKEGTKDGLEKTKAAV
Mmusculus  all identical  ENSMUSG00000071176  308MQKLMKAAKEGTKDGLEKTKAAV
Ggallus  all identical  ENSGALG00000016350  321MQKLMRAAREGTKDGLEKTKAAV
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000077788  414AAKDGTKDGLQKTKAAV
Dmelanogaster  no homologue    
Celegans  no alignment  R02F2.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
304355COILEDPotential.lost
379379MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
395395CONFLICTL -> F (in Ref. 5; AAI12927).might get lost (downstream of altered splice site)
421608DOMAINDH.might get lost (downstream of altered splice site)
500500CONFLICTD -> V (in Ref. 5; AAH40474).might get lost (downstream of altered splice site)
10241024CONFLICTT -> S (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
10461046CONFLICTS -> T (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
12711304COMPBIASSer-rich.might get lost (downstream of altered splice site)
12841284MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12871287MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1833 / 1833
position (AA) of stopcodon in wt / mu AA sequence 611 / 611
position of stopcodon in wt / mu cDNA 1996 / 1996
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 164 / 164
chromosome 8
strand 1
last intron/exon boundary 1772
theoretical NMD boundary in CDS 1558
length of CDS 1833
coding sequence (CDS) position 953
cDNA position
(for ins/del: last normal base / first normal base)		 1116
gDNA position
(for ins/del: last normal base / first normal base)		 58694
chromosomal position
(for ins/del: last normal base / first normal base)		 1830835
original gDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered gDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
original cDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered cDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
wildtype AA sequence MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG
DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID
ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS
LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD
DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR
SNHKKQMQKL VKAAKDGTKD GLERTRAAVK RGRSFIRTKS LIAQDHRSSL EEEQNLFIDV
DCKHPEAILT PMPEGLSQQQ VVRRYILGSV VDSEKNYVDA LKRILEQYEK PLSEMEPKVL
SERKLKTVFY RVKEILQCHS LFQIALASRV SEWDSVEMIG DVFVASFSKS MVLDAYSEYV
NNFSTAVAVL KKTCATKPAF LEFLKQEQEA SPDRTTLYSL MMKPIQRFPQ FILLLQDMLK
NTSKGHPDRL PLQMALTELE TLAEKLNERK RDADQRCEVK QIAKAINERY LNKVERGFLQ
LYSKIIFALC *
mutated AA sequence MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG
DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID
ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS
LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD
DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR
SNHKKQMQKL VKAAKDGIKD GLERTRAAVK RGRSFIRTKS LIAQDHRSSL EEEQNLFIDV
DCKHPEAILT PMPEGLSQQQ VVRRYILGSV VDSEKNYVDA LKRILEQYEK PLSEMEPKVL
SERKLKTVFY RVKEILQCHS LFQIALASRV SEWDSVEMIG DVFVASFSKS MVLDAYSEYV
NNFSTAVAVL KKTCATKPAF LEFLKQEQEA SPDRTTLYSL MMKPIQRFPQ FILLLQDMLK
NTSKGHPDRL PLQMALTELE TLAEKLNERK RDADQRCEVK QIAKAINERY LNKVERGFLQ
LYSKIIFALC *
speed 0.59 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: 0.999999648550258 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032833)
  • known disease mutation: rs2526 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:1830835C>TN/A show variant in all transcripts   IGV
HGNC symbol ARHGEF10
Ensembl transcript ID ENST00000520359
Genbank transcript ID N/A
UniProt peptide O15013
alteration type single base exchange
alteration region CDS
DNA changes c.881C>T
cDNA.1054C>T
g.58694C>T
AA changes T294I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 294
frameshift no
known variant Reference ID: rs28940281
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2526 (pathogenic for Slowed nerve conduction velocity, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6090.998
5.5661
(flanking)0.110.995
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 increased58692wt: 0.6345 / mu: 0.6937 (marginal change - not scored)wt: GACGGCACCAAGGAC
mu: GACGGCATCAAGGAC		 CGGC|acca
Donor marginally increased58697wt: 0.6117 / mu: 0.6221 (marginal change - not scored)wt: CACCAAGGACGGGCT
mu: CATCAAGGACGGGCT		 CCAA|ggac
Donor gained586980.33mu: ATCAAGGACGGGCTG CAAG|gacg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      294MQKLVKAAKDGTKDGLERTRAAVK
mutated  not conserved    294MQKLVKAAKDGIKDGLER
Ptroglodytes  all identical  ENSPTRG00000019942  336MQKLVKAAKDGTKDGLERTRAAV
Mmulatta  all identical  ENSMMUG00000009472  311MQKLVKAAKDGTKDGLERTRAAV
Fcatus  all identical  ENSFCAG00000012553  245AKEGTKDGLEKTKAAV
Mmusculus  all identical  ENSMUSG00000071176  308MQKLMKAAKEGTKDGLEKTKAAV
Ggallus  all identical  ENSGALG00000016350  321MQKLMRAAREGTKDGLEKTKAAV
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000077788  414TKDGLQKTKAAV
Dmelanogaster  no homologue    
Celegans  no alignment  R02F2.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
304355COILEDPotential.might get lost (downstream of altered splice site)
379379MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
395395CONFLICTL -> F (in Ref. 5; AAI12927).might get lost (downstream of altered splice site)
421608DOMAINDH.might get lost (downstream of altered splice site)
500500CONFLICTD -> V (in Ref. 5; AAH40474).might get lost (downstream of altered splice site)
10241024CONFLICTT -> S (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
10461046CONFLICTS -> T (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
12711304COMPBIASSer-rich.might get lost (downstream of altered splice site)
12841284MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12871287MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3921 / 3921
position (AA) of stopcodon in wt / mu AA sequence 1307 / 1307
position of stopcodon in wt / mu cDNA 4094 / 4094
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 8
strand 1
last intron/exon boundary 3580
theoretical NMD boundary in CDS 3356
length of CDS 3921
coding sequence (CDS) position 881
cDNA position
(for ins/del: last normal base / first normal base)		 1054
gDNA position
(for ins/del: last normal base / first normal base)		 58694
chromosomal position
(for ins/del: last normal base / first normal base)		 1830835
original gDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered gDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
original cDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered cDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
wildtype AA sequence MDQREPLPPA PAENEMKYDT NNNEEEEGEQ FDFDSGDEIP EADRQAPSAP ETGGAGASEA
PAPTGGEDGA GAETTPVAEP TKLVLPMKVN PYSVIDITPF QEDQPPTPVP SAEEENVGLH
VPCGYLVPVP CGYAVPSNLP LLLPAYSSPV IICATSLDEE AETPEVTEDR QPNSLSSEEP
PTSEDQVGRE DSALARWAAD PANTAWMENP EEAIYDDVPR ENSDSEPDEM IYDDVENGDE
GGNSSLEYGW SSSEFESYEE QSDSECKNGI PRSFLRSNHK KQMQKLVKAA KDGTKDGLER
TRAAVKRGRS FIRTKSLIAQ DHRSSLEEEQ NLFIDVDCKH PEAILTPMPE GLSQQQVVRR
YILGSVVDSE KNYVDALKRI LEQYEKPLSE MEPKVLSERK LKTVFYRVKE ILQCHSLFQI
ALASRVSEWD SVEMIGDVFV ASFSKSMVLD AYSEYVNNFS TAVAVLKKTC ATKPAFLEFL
KQEQEASPDR TTLYSLMMKP IQRFPQFILL LQDMLKNTSK GHPDRLPLQM ALTELETLAE
KLNERKRDAD QRCEVKQIAK AINERYLNKL LSSGSRYLIR SDDMIETVYN DRGEIVKTKE
RRVFMLNDVL MCATVSSRPS HDSRVMSSQR YLLKWSVPLG HVDAIEYGSS AGTGEHSRHL
AVHPPESLAV VANAKPNKVY MGPGQLYQDL QNLLHDLNVI GQITQLIGNL KGNYQNLNQS
VAHDWTSGLQ RLILKKEDEI RAADCCRIQL QLPGKQDKSG RPTFFTAVFN TFTPAIKESW
VNSLQMAKLA LEEENHMGWF CVEDDGNHIK KEKHPLLVGH MPVMVAKQQE FKIECAAYNP
EPYLNNESQP DSFSTAHGFL WIGSCTHQMG QIAIVSFQNS TPKVIECFNV ESRILCMLYV
PVEEKRREPG APPDPETPAV RASDVPTICV GTEEGSISIY KSSQGSKKVR LQHFFTPEKS
TVMSLACTSQ SLYAGLVNGA VASYARAPDG SWDSEPQKVI KLGVLPVRSL LMMEDTLWAA
SGGQVFIISV ETHAVEGQLE AHQEEGMVIS HMAVSGVGIW IAFTSGSTLR LFHTETLKHL
QDINIATPVH NMLPGHQRLS VTSLLVCHGL LMVGTSLGVL VALPVPRLQG IPKVTGRGMV
SYHAHNSPVK FIVLATALHE KDKDKSRDSL APGPEPQDED QKDALPSGGA GSSLSQGDPD
AAIWLGDSLG SMTQKSDLSS SSGSLSLSHG SSSLEHRSED STIYDLLKDP VSLRSKARRA
KKAKASSALV VCGGQGHRRV HRKARQPHQE ELAPTVMVWQ IPLLNI*
mutated AA sequence MDQREPLPPA PAENEMKYDT NNNEEEEGEQ FDFDSGDEIP EADRQAPSAP ETGGAGASEA
PAPTGGEDGA GAETTPVAEP TKLVLPMKVN PYSVIDITPF QEDQPPTPVP SAEEENVGLH
VPCGYLVPVP CGYAVPSNLP LLLPAYSSPV IICATSLDEE AETPEVTEDR QPNSLSSEEP
PTSEDQVGRE DSALARWAAD PANTAWMENP EEAIYDDVPR ENSDSEPDEM IYDDVENGDE
GGNSSLEYGW SSSEFESYEE QSDSECKNGI PRSFLRSNHK KQMQKLVKAA KDGIKDGLER
TRAAVKRGRS FIRTKSLIAQ DHRSSLEEEQ NLFIDVDCKH PEAILTPMPE GLSQQQVVRR
YILGSVVDSE KNYVDALKRI LEQYEKPLSE MEPKVLSERK LKTVFYRVKE ILQCHSLFQI
ALASRVSEWD SVEMIGDVFV ASFSKSMVLD AYSEYVNNFS TAVAVLKKTC ATKPAFLEFL
KQEQEASPDR TTLYSLMMKP IQRFPQFILL LQDMLKNTSK GHPDRLPLQM ALTELETLAE
KLNERKRDAD QRCEVKQIAK AINERYLNKL LSSGSRYLIR SDDMIETVYN DRGEIVKTKE
RRVFMLNDVL MCATVSSRPS HDSRVMSSQR YLLKWSVPLG HVDAIEYGSS AGTGEHSRHL
AVHPPESLAV VANAKPNKVY MGPGQLYQDL QNLLHDLNVI GQITQLIGNL KGNYQNLNQS
VAHDWTSGLQ RLILKKEDEI RAADCCRIQL QLPGKQDKSG RPTFFTAVFN TFTPAIKESW
VNSLQMAKLA LEEENHMGWF CVEDDGNHIK KEKHPLLVGH MPVMVAKQQE FKIECAAYNP
EPYLNNESQP DSFSTAHGFL WIGSCTHQMG QIAIVSFQNS TPKVIECFNV ESRILCMLYV
PVEEKRREPG APPDPETPAV RASDVPTICV GTEEGSISIY KSSQGSKKVR LQHFFTPEKS
TVMSLACTSQ SLYAGLVNGA VASYARAPDG SWDSEPQKVI KLGVLPVRSL LMMEDTLWAA
SGGQVFIISV ETHAVEGQLE AHQEEGMVIS HMAVSGVGIW IAFTSGSTLR LFHTETLKHL
QDINIATPVH NMLPGHQRLS VTSLLVCHGL LMVGTSLGVL VALPVPRLQG IPKVTGRGMV
SYHAHNSPVK FIVLATALHE KDKDKSRDSL APGPEPQDED QKDALPSGGA GSSLSQGDPD
AAIWLGDSLG SMTQKSDLSS SSGSLSLSHG SSSLEHRSED STIYDLLKDP VSLRSKARRA
KKAKASSALV VCGGQGHRRV HRKARQPHQE ELAPTVMVWQ IPLLNI*
speed 0.95 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: 0.999999648550258 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032833)
  • known disease mutation: rs2526 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:1830835C>TN/A show variant in all transcripts   IGV
HGNC symbol ARHGEF10
Ensembl transcript ID ENST00000518288
Genbank transcript ID N/A
UniProt peptide O15013
alteration type single base exchange
alteration region CDS
DNA changes c.1070C>T
cDNA.1233C>T
g.58694C>T
AA changes T357I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 357
frameshift no
known variant Reference ID: rs28940281
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2526 (pathogenic for Slowed nerve conduction velocity, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6090.998
5.5661
(flanking)0.110.995
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 increased58692wt: 0.6345 / mu: 0.6937 (marginal change - not scored)wt: GACGGCACCAAGGAC
mu: GACGGCATCAAGGAC		 CGGC|acca
Donor marginally increased58697wt: 0.6117 / mu: 0.6221 (marginal change - not scored)wt: CACCAAGGACGGGCT
mu: CATCAAGGACGGGCT		 CCAA|ggac
Donor gained586980.33mu: ATCAAGGACGGGCTG CAAG|gacg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      357MQKLVKAAKDGTKDGLERTRAAVK
mutated  not conserved    357MQKLVKAAKDGIKDG
Ptroglodytes  all identical  ENSPTRG00000019942  357MQKLVKAAKDGTKDG
Mmulatta  all identical  ENSMMUG00000009472  332MQKLVKAAKDGTKDGLERTRAAV
Fcatus  all identical  ENSFCAG00000012553  245AKEGTKDGLEKTKAAV
Mmusculus  all identical  ENSMUSG00000071176  333MQKLMKAAKEGTKDGLEKTKAAV
Ggallus  all identical  ENSGALG00000016350  341MQKLMRAAREGTKDGLEKTKAAV
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000077788  414AAKDGTKDGLQKTKAAV
Dmelanogaster  no homologue    
Celegans  no alignment  R02F2.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
379379MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
395395CONFLICTL -> F (in Ref. 5; AAI12927).might get lost (downstream of altered splice site)
421608DOMAINDH.might get lost (downstream of altered splice site)
500500CONFLICTD -> V (in Ref. 5; AAH40474).might get lost (downstream of altered splice site)
10241024CONFLICTT -> S (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
10461046CONFLICTS -> T (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
12711304COMPBIASSer-rich.might get lost (downstream of altered splice site)
12841284MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12871287MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4107 / 4107
position (AA) of stopcodon in wt / mu AA sequence 1369 / 1369
position of stopcodon in wt / mu cDNA 4270 / 4270
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 164 / 164
chromosome 8
strand 1
last intron/exon boundary 3756
theoretical NMD boundary in CDS 3542
length of CDS 4107
coding sequence (CDS) position 1070
cDNA position
(for ins/del: last normal base / first normal base)		 1233
gDNA position
(for ins/del: last normal base / first normal base)		 58694
chromosomal position
(for ins/del: last normal base / first normal base)		 1830835
original gDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered gDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
original cDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered cDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
wildtype AA sequence MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG
DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID
ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS
LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD
DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR
SNHKKQLSHD LTRLKEHYEK KMRDLMASTV GVVEIQQLRQ KHELKMQKLV KAAKDGTKDG
LERTRAAVKR GRSFIRTKSL IAQDHRSSLE EEQNLFIDVD CKHPEAILTP MPEGLSQQQV
VRRYILGSVV DSEKNYVDAL KRILEQYEKP LSEMEPKVLS ERKLKTVFYR VKEILQCHSL
FQIALASRVS EWDSVEMIGD VFVASFSKSM VLDAYSEYVN NFSTAVAVLK KTCATKPAFL
EFLKEQEASP DRTTLYSLMM KPIQRFPQFI LLLQDMLKNT SKGHPDRLPL QMALTELETL
AEKLNERKRD ADQRCEVKQI AKAINERYLN KLLSSGSRYL IRSDDMIETV YNDRGEIVKT
KERRVFMLND VLMCATVSSR PSHDSRVMSS QRYLLKWSVP LGHVDAIEYG SSAGTGEHSR
HLAVHPPESL AVVANAKPNK VYMGPGQLYQ DLQNLLHDLN VIGQITQLIG NLKGNYQNLN
QSVAHDWTSG LQRLILKKED EIRAADCCRI QLQLPGKQDK SGRPTFFTAV FNTFTPAIKE
SWVNSLQMAK LALEEENHMG WFCVEDDGNH IKKEKHPLLV GHMPVMVAKQ QEFKIECAAY
NPEPYLNNES QPDSFSTAHG FLWIGSCTHQ MGQIAIVSFQ NSTPKVIECF NVESRILCML
YVPVEEKRRE PGAPPDPETP AVRASDVPTI CVGTEEGSIS IYKSSQGSKK VRLQHFFTPE
KSTVMSLACT SQSLYAGLVN GAVASYARAP DGSWDSEPQK VIKLGVLPVR SLLMMEDTLW
AASGGQVFII SVETHAVEGQ LEAHQEEGMV ISHMAVSGVG IWIAFTSGST LRLFHTETLK
HLQDINIATP VHNMLPGHQR LSVTSLLVCH GLLMVGTSLG VLVALPVPRL QGIPKVTGRG
MVSYHAHNSP VKFIVLATAL HEKDKDKSRD SLAPGPEPQD EDQKDALPSG GAGSSLSQGD
PDAAIWLGDS LGSMTQKSDL SSSSGSLSLS HGSSSLEHRS EDSTIYDLLK DPVSLRSKAR
RAKKAKASSA LVVCGGQGHR RVHRKARQPH QEELAPTVMV WQIPLLNI*
mutated AA sequence MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG
DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID
ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS
LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD
DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR
SNHKKQLSHD LTRLKEHYEK KMRDLMASTV GVVEIQQLRQ KHELKMQKLV KAAKDGIKDG
LERTRAAVKR GRSFIRTKSL IAQDHRSSLE EEQNLFIDVD CKHPEAILTP MPEGLSQQQV
VRRYILGSVV DSEKNYVDAL KRILEQYEKP LSEMEPKVLS ERKLKTVFYR VKEILQCHSL
FQIALASRVS EWDSVEMIGD VFVASFSKSM VLDAYSEYVN NFSTAVAVLK KTCATKPAFL
EFLKEQEASP DRTTLYSLMM KPIQRFPQFI LLLQDMLKNT SKGHPDRLPL QMALTELETL
AEKLNERKRD ADQRCEVKQI AKAINERYLN KLLSSGSRYL IRSDDMIETV YNDRGEIVKT
KERRVFMLND VLMCATVSSR PSHDSRVMSS QRYLLKWSVP LGHVDAIEYG SSAGTGEHSR
HLAVHPPESL AVVANAKPNK VYMGPGQLYQ DLQNLLHDLN VIGQITQLIG NLKGNYQNLN
QSVAHDWTSG LQRLILKKED EIRAADCCRI QLQLPGKQDK SGRPTFFTAV FNTFTPAIKE
SWVNSLQMAK LALEEENHMG WFCVEDDGNH IKKEKHPLLV GHMPVMVAKQ QEFKIECAAY
NPEPYLNNES QPDSFSTAHG FLWIGSCTHQ MGQIAIVSFQ NSTPKVIECF NVESRILCML
YVPVEEKRRE PGAPPDPETP AVRASDVPTI CVGTEEGSIS IYKSSQGSKK VRLQHFFTPE
KSTVMSLACT SQSLYAGLVN GAVASYARAP DGSWDSEPQK VIKLGVLPVR SLLMMEDTLW
AASGGQVFII SVETHAVEGQ LEAHQEEGMV ISHMAVSGVG IWIAFTSGST LRLFHTETLK
HLQDINIATP VHNMLPGHQR LSVTSLLVCH GLLMVGTSLG VLVALPVPRL QGIPKVTGRG
MVSYHAHNSP VKFIVLATAL HEKDKDKSRD SLAPGPEPQD EDQKDALPSG GAGSSLSQGD
PDAAIWLGDS LGSMTQKSDL SSSSGSLSLS HGSSSLEHRS EDSTIYDLLK DPVSLRSKAR
RAKKAKASSA LVVCGGQGHR RVHRKARQPH QEELAPTVMV WQIPLLNI*
speed 0.84 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: 0.999999648550258 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032833)
  • known disease mutation: rs2526 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:1830835C>TN/A show variant in all transcripts   IGV
HGNC symbol ARHGEF10
Ensembl transcript ID ENST00000398564
Genbank transcript ID N/A
UniProt peptide O15013
alteration type single base exchange
alteration region CDS
DNA changes c.1070C>T
cDNA.1070C>T
g.58694C>T
AA changes T357I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 357
frameshift no
known variant Reference ID: rs28940281
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2526 (pathogenic for Slowed nerve conduction velocity, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6090.998
5.5661
(flanking)0.110.995
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 increased58692wt: 0.6345 / mu: 0.6937 (marginal change - not scored)wt: GACGGCACCAAGGAC
mu: GACGGCATCAAGGAC		 CGGC|acca
Donor marginally increased58697wt: 0.6117 / mu: 0.6221 (marginal change - not scored)wt: CACCAAGGACGGGCT
mu: CATCAAGGACGGGCT		 CCAA|ggac
Donor gained586980.33mu: ATCAAGGACGGGCTG CAAG|gacg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      357MQKLVKAAKDGTKDGLERTRAAVK
mutated  not conserved    357MQKLVKAAKDGIKDG
Ptroglodytes  all identical  ENSPTRG00000019942  357MQKLVKAAKDGTKDG
Mmulatta  all identical  ENSMMUG00000009472  332MQKLVKAAKDGTKDGLERTRAAV
Fcatus  all identical  ENSFCAG00000012553  245AKEGTKDGLEKTKAAV
Mmusculus  all identical  ENSMUSG00000071176  333MQKLMKAAKEGTKDGLEKTKAAV
Ggallus  all identical  ENSGALG00000016350  341MQKLMRAAREGTKDGLEKTKAAV
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000077788  414AAKDGTKDGLQKTKAAV
Dmelanogaster  no homologue    
Celegans  no alignment  R02F2.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
379379MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
395395CONFLICTL -> F (in Ref. 5; AAI12927).might get lost (downstream of altered splice site)
421608DOMAINDH.might get lost (downstream of altered splice site)
500500CONFLICTD -> V (in Ref. 5; AAH40474).might get lost (downstream of altered splice site)
10241024CONFLICTT -> S (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
10461046CONFLICTS -> T (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
12711304COMPBIASSer-rich.might get lost (downstream of altered splice site)
12841284MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12871287MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4110 / 4110
position (AA) of stopcodon in wt / mu AA sequence 1370 / 1370
position of stopcodon in wt / mu cDNA 4110 / 4110
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 1 / 1
chromosome 8
strand 1
last intron/exon boundary 3596
theoretical NMD boundary in CDS 3545
length of CDS 4110
coding sequence (CDS) position 1070
cDNA position
(for ins/del: last normal base / first normal base)		 1070
gDNA position
(for ins/del: last normal base / first normal base)		 58694
chromosomal position
(for ins/del: last normal base / first normal base)		 1830835
original gDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered gDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
original cDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered cDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
wildtype AA sequence MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG
DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID
ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS
LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD
DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR
SNHKKQLSHD LTRLKEHYEK KMRDLMASTV GVVEIQQLRQ KHELKMQKLV KAAKDGTKDG
LERTRAAVKR GRSFIRTKSL IAQDHRSSLE EEQNLFIDVD CKHPEAILTP MPEGLSQQQV
VRRYILGSVV DSEKNYVDAL KRILEQYEKP LSEMEPKVLS ERKLKTVFYR VKEILQCHSL
FQIALASRVS EWDSVEMIGD VFVASFSKSM VLDAYSEYVN NFSTAVAVLK KTCATKPAFL
EFLKQEQEAS PDRTTLYSLM MKPIQRFPQF ILLLQDMLKN TSKGHPDRLP LQMALTELET
LAEKLNERKR DADQRCEVKQ IAKAINERYL NKLLSSGSRY LIRSDDMIET VYNDRGEIVK
TKERRVFMLN DVLMCATVSS RPSHDSRVMS SQRYLLKWSV PLGHVDAIEY GSSAGTGEHS
RHLAVHPPES LAVVANAKPN KVYMGPGQLY QDLQNLLHDL NVIGQITQLI GNLKGNYQNL
NQSVAHDWTS GLQRLILKKE DEIRAADCCR IQLQLPGKQD KSGRPTFFTA VFNTFTPAIK
ESWVNSLQMA KLALEEENHM GWFCVEDDGN HIKKEKHPLL VGHMPVMVAK QQEFKIECAA
YNPEPYLNNE SQPDSFSTAH GFLWIGSCTH QMGQIAIVSF QNSTPKVIEC FNVESRILCM
LYVPVEEKRR EPGAPPDPET PAVRASDVPT ICVGTEEGSI SIYKSSQGSK KVRLQHFFTP
EKSTVMSLAC TSQSLYAGLV NGAVASYARA PDGSWDSEPQ KVIKLGVLPV RSLLMMEDTL
WAASGGQVFI ISVETHAVEG QLEAHQEEGM VISHMAVSGV GIWIAFTSGS TLRLFHTETL
KHLQDINIAT PVHNMLPGHQ RLSVTSLLVC HGLLMVGTSL GVLVALPVPR LQGIPKVTGR
GMVSYHAHNS PVKFIVLATA LHEKDKDKSR DSLAPGPEPQ DEDQKDALPS GGAGSSLSQG
DPDAAIWLGD SLGSMTQKSD LSSSSGSLSL SHGSSSLEHR SEDSTIYDLL KDPVSLRSKA
RRAKKAKASS ALVVCGGQGH RRVHRKARQP HQEELAPTVM VWQIPLLNI*
mutated AA sequence MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG
DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID
ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS
LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD
DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR
SNHKKQLSHD LTRLKEHYEK KMRDLMASTV GVVEIQQLRQ KHELKMQKLV KAAKDGIKDG
LERTRAAVKR GRSFIRTKSL IAQDHRSSLE EEQNLFIDVD CKHPEAILTP MPEGLSQQQV
VRRYILGSVV DSEKNYVDAL KRILEQYEKP LSEMEPKVLS ERKLKTVFYR VKEILQCHSL
FQIALASRVS EWDSVEMIGD VFVASFSKSM VLDAYSEYVN NFSTAVAVLK KTCATKPAFL
EFLKQEQEAS PDRTTLYSLM MKPIQRFPQF ILLLQDMLKN TSKGHPDRLP LQMALTELET
LAEKLNERKR DADQRCEVKQ IAKAINERYL NKLLSSGSRY LIRSDDMIET VYNDRGEIVK
TKERRVFMLN DVLMCATVSS RPSHDSRVMS SQRYLLKWSV PLGHVDAIEY GSSAGTGEHS
RHLAVHPPES LAVVANAKPN KVYMGPGQLY QDLQNLLHDL NVIGQITQLI GNLKGNYQNL
NQSVAHDWTS GLQRLILKKE DEIRAADCCR IQLQLPGKQD KSGRPTFFTA VFNTFTPAIK
ESWVNSLQMA KLALEEENHM GWFCVEDDGN HIKKEKHPLL VGHMPVMVAK QQEFKIECAA
YNPEPYLNNE SQPDSFSTAH GFLWIGSCTH QMGQIAIVSF QNSTPKVIEC FNVESRILCM
LYVPVEEKRR EPGAPPDPET PAVRASDVPT ICVGTEEGSI SIYKSSQGSK KVRLQHFFTP
EKSTVMSLAC TSQSLYAGLV NGAVASYARA PDGSWDSEPQ KVIKLGVLPV RSLLMMEDTL
WAASGGQVFI ISVETHAVEG QLEAHQEEGM VISHMAVSGV GIWIAFTSGS TLRLFHTETL
KHLQDINIAT PVHNMLPGHQ RLSVTSLLVC HGLLMVGTSL GVLVALPVPR LQGIPKVTGR
GMVSYHAHNS PVKFIVLATA LHEKDKDKSR DSLAPGPEPQ DEDQKDALPS GGAGSSLSQG
DPDAAIWLGD SLGSMTQKSD LSSSSGSLSL SHGSSSLEHR SEDSTIYDLL KDPVSLRSKA
RRAKKAKASS ALVVCGGQGH RRVHRKARQP HQEELAPTVM VWQIPLLNI*
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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999648550258 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032833)
  • known disease mutation: rs2526 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:1830835C>TN/A show variant in all transcripts   IGV
HGNC symbol ARHGEF10
Ensembl transcript ID ENST00000262112
Genbank transcript ID N/A
UniProt peptide O15013
alteration type single base exchange
alteration region CDS
DNA changes c.1070C>T
cDNA.1070C>T
g.58694C>T
AA changes T357I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 357
frameshift no
known variant Reference ID: rs28940281
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2526 (pathogenic for Slowed nerve conduction velocity, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032833)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.6090.998
5.5661
(flanking)0.110.995
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 increased58692wt: 0.6345 / mu: 0.6937 (marginal change - not scored)wt: GACGGCACCAAGGAC
mu: GACGGCATCAAGGAC		 CGGC|acca
Donor marginally increased58697wt: 0.6117 / mu: 0.6221 (marginal change - not scored)wt: CACCAAGGACGGGCT
mu: CATCAAGGACGGGCT		 CCAA|ggac
Donor gained586980.33mu: ATCAAGGACGGGCTG CAAG|gacg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      357MQKLVKAAKDGTKDGLERTRAAVK
mutated  not conserved    357MQKLVKAAKDGIKDG
Ptroglodytes  all identical  ENSPTRG00000019942  357MQKLVKAAKDGTKDG
Mmulatta  all identical  ENSMMUG00000009472  332MQKLVKAAKDGTKDGLERTRAAV
Fcatus  all identical  ENSFCAG00000012553  245AKEGTKDGLEKTKAAV
Mmusculus  all identical  ENSMUSG00000071176  333MQKLMKAAKEGTKDGLEKTKAAV
Ggallus  all identical  ENSGALG00000016350  341MQKLMRAAREGTKDGLEKTKAAV
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000077788  414AAKDGTKDGLQKTKAAV
Dmelanogaster  no homologue    
Celegans  no alignment  R02F2.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
379379MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
395395CONFLICTL -> F (in Ref. 5; AAI12927).might get lost (downstream of altered splice site)
421608DOMAINDH.might get lost (downstream of altered splice site)
500500CONFLICTD -> V (in Ref. 5; AAH40474).might get lost (downstream of altered splice site)
10241024CONFLICTT -> S (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
10461046CONFLICTS -> T (in Ref. 6; AAB71662).might get lost (downstream of altered splice site)
12711304COMPBIASSer-rich.might get lost (downstream of altered splice site)
12841284MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12871287MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4023 / 4023
position (AA) of stopcodon in wt / mu AA sequence 1341 / 1341
position of stopcodon in wt / mu cDNA 4023 / 4023
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 1 / 1
chromosome 8
strand 1
last intron/exon boundary 3509
theoretical NMD boundary in CDS 3458
length of CDS 4023
coding sequence (CDS) position 1070
cDNA position
(for ins/del: last normal base / first normal base)		 1070
gDNA position
(for ins/del: last normal base / first normal base)		 58694
chromosomal position
(for ins/del: last normal base / first normal base)		 1830835
original gDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered gDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
original cDNA sequence snippet GAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA
altered cDNA sequence snippet GAAGGCCGCGAAGGACGGCATCAAGGACGGGCTGGAGAGGA
wildtype AA sequence MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG
DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID
ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS
LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD
DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR
SNHKKQLSHD LTRLKEHYEK KMRDLMASTV GVVEIQQLRQ KHELKMQKLV KAAKDGTKDG
LERTRAAVKR GRSFIRTKSL IAQDHRSSLE EEQNLFIDVD CKHPEAILTP MPEGLSQQQV
VRRYILGSVV DSEKNYVDAL KRILEQYEKP LSEMEPKVLS ERKLKTVFYR VKEILQCHSL
FQIALASRVS EWDSVEMIGD VFVASFSKSM VLDAYSEYVN NFSTAVAVLK KTCATKPAFL
EFLKQEQEAS PDRTTLYSLM MKPIQRFPQF ILLLQDMLKN TSKGHPDRLP LQMALTELET
LAEKLNERKR DADQRCEVKQ IAKAINERYL NKLLSSGSRY LIRSDDMIET VYNDRGEIVK
TKERRVFMLN DVLMCATVSS RPSHDSRVMS SQRYLLKWSV PLGHVDAIEY GSSAGTGEHS
RHLAVHPPES LAVVANAKPN KVYMGPGQLY QDLQNLLHDL NVIGQITQLI GNLKGNYQNL
NQSVAHDWTS GLQRLILKKE DEIRAADCCR IQLQLPGKQD KSGRPTFFTA VFNTFTPAIK
ESWVNSLQMA KLALEEENHM GWFCVEDDGN HIKKEKHPLL VGHMPVMVAK QQEFKIGSCT
HQMGQIAIVS FQNSTPKVIE CFNVESRILC MLYVPVEEKR REPGAPPDPE TPAVRASDVP
TICVGTEEGS ISIYKSSQGS KKVRLQHFFT PEKSTVMSLA CTSQSLYAGL VNGAVASYAR
APDGSWDSEP QKVIKLGVLP VRSLLMMEDT LWAASGGQVF IISVETHAVE GQLEAHQEEG
MVISHMAVSG VGIWIAFTSG STLRLFHTET LKHLQDINIA TPVHNMLPGH QRLSVTSLLV
CHGLLMVGTS LGVLVALPVP RLQGIPKVTG RGMVSYHAHN SPVKFIVLAT ALHEKDKDKS
RDSLAPGPEP QDEDQKDALP SGGAGSSLSQ GDPDAAIWLG DSLGSMTQKS DLSSSSGSLS
LSHGSSSLEH RSEDSTIYDL LKDPVSLRSK ARRAKKAKAS SALVVCGGQG HRRVHRKARQ
PHQEELAPTV MVWQIPLLNI *
mutated AA sequence MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG
DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID
ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS
LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD
DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR
SNHKKQLSHD LTRLKEHYEK KMRDLMASTV GVVEIQQLRQ KHELKMQKLV KAAKDGIKDG
LERTRAAVKR GRSFIRTKSL IAQDHRSSLE EEQNLFIDVD CKHPEAILTP MPEGLSQQQV
VRRYILGSVV DSEKNYVDAL KRILEQYEKP LSEMEPKVLS ERKLKTVFYR VKEILQCHSL
FQIALASRVS EWDSVEMIGD VFVASFSKSM VLDAYSEYVN NFSTAVAVLK KTCATKPAFL
EFLKQEQEAS PDRTTLYSLM MKPIQRFPQF ILLLQDMLKN TSKGHPDRLP LQMALTELET
LAEKLNERKR DADQRCEVKQ IAKAINERYL NKLLSSGSRY LIRSDDMIET VYNDRGEIVK
TKERRVFMLN DVLMCATVSS RPSHDSRVMS SQRYLLKWSV PLGHVDAIEY GSSAGTGEHS
RHLAVHPPES LAVVANAKPN KVYMGPGQLY QDLQNLLHDL NVIGQITQLI GNLKGNYQNL
NQSVAHDWTS GLQRLILKKE DEIRAADCCR IQLQLPGKQD KSGRPTFFTA VFNTFTPAIK
ESWVNSLQMA KLALEEENHM GWFCVEDDGN HIKKEKHPLL VGHMPVMVAK QQEFKIGSCT
HQMGQIAIVS FQNSTPKVIE CFNVESRILC MLYVPVEEKR REPGAPPDPE TPAVRASDVP
TICVGTEEGS ISIYKSSQGS KKVRLQHFFT PEKSTVMSLA CTSQSLYAGL VNGAVASYAR
APDGSWDSEP QKVIKLGVLP VRSLLMMEDT LWAASGGQVF IISVETHAVE GQLEAHQEEG
MVISHMAVSG VGIWIAFTSG STLRLFHTET LKHLQDINIA TPVHNMLPGH QRLSVTSLLV
CHGLLMVGTS LGVLVALPVP RLQGIPKVTG RGMVSYHAHN SPVKFIVLAT ALHEKDKDKS
RDSLAPGPEP QDEDQKDALP SGGAGSSLSQ GDPDAAIWLG DSLGSMTQKS DLSSSSGSLS
LSHGSSSLEH RSEDSTIYDL LKDPVSLRSK ARRAKKAKAS SALVVCGGQG HRRVHRKARQ
PHQEELAPTV MVWQIPLLNI *
speed 0.82 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