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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000394779
Querying Taster for transcript #2: ENST00000394777
Querying Taster for transcript #3: ENST00000318737
Querying Taster for transcript #4: ENST00000374287
MT speed 0 s - this script 4.681986 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SHOC1polymorphism_automatic0.000245551178120973simple_aaeE1135Gsingle base exchangers7869279show file
SHOC1polymorphism_automatic0.000245551178120973simple_aaeE1100Gsingle base exchangers7869279show file
SHOC1polymorphism_automatic0.000245551178120973simple_aaeE1174Gsingle base exchangers7869279show file
SHOC1polymorphism_automatic0.000245551178120973simple_aaeE1174Gsingle base exchangers7869279show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999754448821879 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:114454544T>CN/A show variant in all transcripts   IGV
HGNC symbol SHOC1
Ensembl transcript ID ENST00000394779
Genbank transcript ID NM_001080551
UniProt peptide Q5VXU9
alteration type single base exchange
alteration region CDS
DNA changes c.3404A>G
cDNA.3649A>G
g.102745A>G
AA changes E1135G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1135
frameshift no
known variant Reference ID: rs7869279
databasehomozygous (C/C)heterozygousallele carriers
1000G70910711780
ExAC15213234117554
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0020.648
1.6290.605
(flanking)0.1760.111
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 248
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1135LNDNSSIMELKEISSFLPPVTSYN
mutated  not conserved    1135LNDNSSIMELKGISSFL
Ptroglodytes  all identical  ENSPTRG00000021260  1174DNSSIMELKEISSFLPPVTSY
Mmulatta  all identical  ENSMMUG00000023307  1238DNSSIMELKEISGFLPLVTSY
Fcatus  no alignment  ENSFCAG00000004341  n/a
Mmusculus  not conserved  ENSMUSG00000038598  1222-GTSSSPVELRATPCMLPSAAPH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4218 / 4218
position (AA) of stopcodon in wt / mu AA sequence 1406 / 1406
position of stopcodon in wt / mu cDNA 4463 / 4463
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 246 / 246
chromosome 9
strand -1
last intron/exon boundary 4363
theoretical NMD boundary in CDS 4067
length of CDS 4218
coding sequence (CDS) position 3404
cDNA position
(for ins/del: last normal base / first normal base)		 3649
gDNA position
(for ins/del: last normal base / first normal base)		 102745
chromosomal position
(for ins/del: last normal base / first normal base)		 114454544
original gDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered gDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
original cDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered cDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
wildtype AA sequence MSETLGDELE ILRGKMMQRR PRSAEVKYFY FFKILLRLRL AILKYLFIDD KGILFVSSRK
HLPTLPTLLS RLKLFLVKDP LLDFKGQIFT EANFSRECFS LQETLEAFVK EDFCMDKVNF
CQEKLEDTIC LNEPSSFLIE YEFLIPPSLK PEIDIPSLSE LKELLNPVPE IINYVDEKEK
LFERDLTNKH GIEDIGDIKF SSTEILTIQS QSEPEECSKP GELEMPLTPL FLTCQHSSVN
SLRTELQTFP LSPVCKINLL TAEESANEYY MMWQLERCRS PLNPFLLTVP RIQEPHSQYS
VTDLKKIFSV KEESLVINLE KAEWWKQAGL NLKMMETLEH LNTYLCHDNL SSNDTKIEIF
LPTKVLQLES CLEHKSHSSP IALIDEKSTN AHLSLPQKSP SLAKEVPDLC FSDDYFSDKG
AAKEEKPKND QEPVNRIIQK KENNDHFELD CTGPSIKSPS SSIIKKASFE HGKKQENDLD
LLSDFIMLRN KYKTCTSKTE VTNSDEKHDK EACSLTLQEE SPIVHINKTL EEINQERGTD
SVIEIQASDS QCQAFCLLEA AASPILKNLV SLCTLPTANW KFATVIFDQT RFLLKEQEKV
VSDAVRQGTI DEREMTFKHA ALLHLLVTIR DVLLTCSLDT ALGYLSKAKD IYNSILGPYL
GDIWRQLEIV QFIRGKKPET NYKIQELQCQ ILSWMQSQQQ IKVLIIIRMD SDGEKHFLIK
ILNKIEGLTL TVLHSNERKD FLESEGVLRG TSSCVVVHNQ YIGADFPWSN FSFVVEYNYV
EDSCWTKHCK ELNIPYMAFK VILPDTVLER STLLDRFGGF LLEIQIPYVF FASEGLLNTP
DILQLLESNY NISLVERGCS ESLKLFGSSE CYVVVTIDEH TAIILQDLEE LNYEKASDNI
IMRLMALSLQ YRYCWIILYT KETLNSEYLL TEKTLHHLAL IYAALVSFGL NSEELDVKLI
IAPGVEATAL IIRQIADHSL MTSKRDPHEW LDKSWLKVSP SEEEMYLLDF PCINPLVAQL
MLNKGPSLHW ILLATLCQLQ ELLPEVPEKV LKHFCSITSL FKIGSSSITK SPQISSPQEN
RNQISTLSSQ SSASDLDSVI QEHNEYYQYL GLGETVQEDK TTILNDNSSI MELKEISSFL
PPVTSYNQTS YWKDSSCKSN IGQNTPFLIN IESRRPAYNS FLNHSDSESD VFSLGLTQMN
CETIKSPTDT QKRVSVVPRF INSQKRRTHE AKGFINKDVS DPIFSLEGTQ SPLHWNFKKN
IWEQENHPFN LQYGAQQTAC NKLYSQKGNL FTDQQKCLSD ESEGLTCESS KDETFWRELP
SVPSLDLFRA SDSNANQKEF NSLYFYQRAG KSLGQKRHHE SSFNSGDKES LTGFMCSQLP
QFKKRRLAYE KVPGRVDGQT RLRFF*
mutated AA sequence MSETLGDELE ILRGKMMQRR PRSAEVKYFY FFKILLRLRL AILKYLFIDD KGILFVSSRK
HLPTLPTLLS RLKLFLVKDP LLDFKGQIFT EANFSRECFS LQETLEAFVK EDFCMDKVNF
CQEKLEDTIC LNEPSSFLIE YEFLIPPSLK PEIDIPSLSE LKELLNPVPE IINYVDEKEK
LFERDLTNKH GIEDIGDIKF SSTEILTIQS QSEPEECSKP GELEMPLTPL FLTCQHSSVN
SLRTELQTFP LSPVCKINLL TAEESANEYY MMWQLERCRS PLNPFLLTVP RIQEPHSQYS
VTDLKKIFSV KEESLVINLE KAEWWKQAGL NLKMMETLEH LNTYLCHDNL SSNDTKIEIF
LPTKVLQLES CLEHKSHSSP IALIDEKSTN AHLSLPQKSP SLAKEVPDLC FSDDYFSDKG
AAKEEKPKND QEPVNRIIQK KENNDHFELD CTGPSIKSPS SSIIKKASFE HGKKQENDLD
LLSDFIMLRN KYKTCTSKTE VTNSDEKHDK EACSLTLQEE SPIVHINKTL EEINQERGTD
SVIEIQASDS QCQAFCLLEA AASPILKNLV SLCTLPTANW KFATVIFDQT RFLLKEQEKV
VSDAVRQGTI DEREMTFKHA ALLHLLVTIR DVLLTCSLDT ALGYLSKAKD IYNSILGPYL
GDIWRQLEIV QFIRGKKPET NYKIQELQCQ ILSWMQSQQQ IKVLIIIRMD SDGEKHFLIK
ILNKIEGLTL TVLHSNERKD FLESEGVLRG TSSCVVVHNQ YIGADFPWSN FSFVVEYNYV
EDSCWTKHCK ELNIPYMAFK VILPDTVLER STLLDRFGGF LLEIQIPYVF FASEGLLNTP
DILQLLESNY NISLVERGCS ESLKLFGSSE CYVVVTIDEH TAIILQDLEE LNYEKASDNI
IMRLMALSLQ YRYCWIILYT KETLNSEYLL TEKTLHHLAL IYAALVSFGL NSEELDVKLI
IAPGVEATAL IIRQIADHSL MTSKRDPHEW LDKSWLKVSP SEEEMYLLDF PCINPLVAQL
MLNKGPSLHW ILLATLCQLQ ELLPEVPEKV LKHFCSITSL FKIGSSSITK SPQISSPQEN
RNQISTLSSQ SSASDLDSVI QEHNEYYQYL GLGETVQEDK TTILNDNSSI MELKGISSFL
PPVTSYNQTS YWKDSSCKSN IGQNTPFLIN IESRRPAYNS FLNHSDSESD VFSLGLTQMN
CETIKSPTDT QKRVSVVPRF INSQKRRTHE AKGFINKDVS DPIFSLEGTQ SPLHWNFKKN
IWEQENHPFN LQYGAQQTAC NKLYSQKGNL FTDQQKCLSD ESEGLTCESS KDETFWRELP
SVPSLDLFRA SDSNANQKEF NSLYFYQRAG KSLGQKRHHE SSFNSGDKES LTGFMCSQLP
QFKKRRLAYE KVPGRVDGQT RLRFF*
speed 0.81 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: 0.999754448821879 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:114454544T>CN/A show variant in all transcripts   IGV
HGNC symbol SHOC1
Ensembl transcript ID ENST00000394777
Genbank transcript ID N/A
UniProt peptide Q5VXU9
alteration type single base exchange
alteration region CDS
DNA changes c.3299A>G
cDNA.3544A>G
g.102745A>G
AA changes E1100G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1100
frameshift no
known variant Reference ID: rs7869279
databasehomozygous (C/C)heterozygousallele carriers
1000G70910711780
ExAC15213234117554
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0020.648
1.6290.605
(flanking)0.1760.111
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 248
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1100LNDNSSIMELKEISSFLPPVTSYN
mutated  not conserved    1100LNDNSSIMELKGISSFLPPVTSY
Ptroglodytes  all identical  ENSPTRG00000021260  1174DNSSIMELKEISSFLPPVTSY
Mmulatta  all identical  ENSMMUG00000023307  1238DNSSIMELKEISGFLPLVTSY
Fcatus  no alignment  ENSFCAG00000004341  n/a
Mmusculus  not conserved  ENSMUSG00000038598  1222-GTSSSPVELRATPCMLPSAAPH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4113 / 4113
position (AA) of stopcodon in wt / mu AA sequence 1371 / 1371
position of stopcodon in wt / mu cDNA 4358 / 4358
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 246 / 246
chromosome 9
strand -1
last intron/exon boundary 4258
theoretical NMD boundary in CDS 3962
length of CDS 4113
coding sequence (CDS) position 3299
cDNA position
(for ins/del: last normal base / first normal base)		 3544
gDNA position
(for ins/del: last normal base / first normal base)		 102745
chromosomal position
(for ins/del: last normal base / first normal base)		 114454544
original gDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered gDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
original cDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered cDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
wildtype AA sequence MSETLGDELE ILRGKMMQRR PRSAEVKYFY FFKILLRLRL AILKYLFIDD KGILFVSSRK
HLPTLPTLLS RLKLFLVKDP LLDFKGQIFT EANFSRECFS LQETLEAFVK EDFCMDKVNF
CQEKLEDTIC LNEPSSFLIE YEFLIPPSLK PEIDIPSLSE LKELLNPVPE IINYVDEKEK
LFERDLTNKH GIEDIGDIKF SSTEILTIQS QSEPEECSKP GELEMPLTPL FLTCQHSSVN
SLRTELQTFP LSPVCKINLL TAEESANEYY MMWQLERCRS PLNPFLLTVP RIQEPHSQYS
VTDLKKIFSV KEESLVINLE KAEWWKQAGL NLKMMETLEH LNTYLCHDNL SSNDTKIEIF
LPTKVLQLES CLEHKSHSSP IALIDEKSTN AHLSLPQKSP SLAKEVPDLC FSDDYFSDKG
AAKEEKPKND QEPVNRIIQK KENNDHFELD CTGPSIKSPS SSIIKKASFE HGKKQENDLD
LLSDFIMLRN KYKTCTSKTE VTNSDEKHDK EACSLTLQEE SPIVHINKTL EEINQERGTD
SVIEIQASDS QCQAFCLLEA AASPILKNLV SLCTLPTANW KFATVIFDQT RFLLKEQEKV
VSDAVRQGYL SKAKDIYNSI LGPYLGDIWR QLEIVQFIRG KKPETNYKIQ ELQCQILSWM
QSQQQIKVLI IIRMDSDGEK HFLIKILNKI EGLTLTVLHS NERKDFLESE GVLRGTSSCV
VVHNQYIGAD FPWSNFSFVV EYNYVEDSCW TKHCKELNIP YMAFKVILPD TVLERSTLLD
RFGGFLLEIQ IPYVFFASEG LLNTPDILQL LESNYNISLV ERGCSESLKL FGSSECYVVV
TIDEHTAIIL QDLEELNYEK ASDNIIMRLM ALSLQYRYCW IILYTKETLN SEYLLTEKTL
HHLALIYAAL VSFGLNSEEL DVKLIIAPGV EATALIIRQI ADHSLMTSKR DPHEWLDKSW
LKVSPSEEEM YLLDFPCINP LVAQLMLNKG PSLHWILLAT LCQLQELLPE VPEKVLKHFC
SITSLFKIGS SSITKSPQIS SPQENRNQIS TLSSQSSASD LDSVIQEHNE YYQYLGLGET
VQEDKTTILN DNSSIMELKE ISSFLPPVTS YNQTSYWKDS SCKSNIGQNT PFLINIESRR
PAYNSFLNHS DSESDVFSLG LTQMNCETIK SPTDTQKRVS VVPRFINSQK RRTHEAKGFI
NKDVSDPIFS LEGTQSPLHW NFKKNIWEQE NHPFNLQYGA QQTACNKLYS QKGNLFTDQQ
KCLSDESEGL TCESSKDETF WRELPSVPSL DLFRASDSNA NQKEFNSLYF YQRAGKSLGQ
KRHHESSFNS GDKESLTGFM CSQLPQFKKR RLAYEKVPGR VDGQTRLRFF *
mutated AA sequence MSETLGDELE ILRGKMMQRR PRSAEVKYFY FFKILLRLRL AILKYLFIDD KGILFVSSRK
HLPTLPTLLS RLKLFLVKDP LLDFKGQIFT EANFSRECFS LQETLEAFVK EDFCMDKVNF
CQEKLEDTIC LNEPSSFLIE YEFLIPPSLK PEIDIPSLSE LKELLNPVPE IINYVDEKEK
LFERDLTNKH GIEDIGDIKF SSTEILTIQS QSEPEECSKP GELEMPLTPL FLTCQHSSVN
SLRTELQTFP LSPVCKINLL TAEESANEYY MMWQLERCRS PLNPFLLTVP RIQEPHSQYS
VTDLKKIFSV KEESLVINLE KAEWWKQAGL NLKMMETLEH LNTYLCHDNL SSNDTKIEIF
LPTKVLQLES CLEHKSHSSP IALIDEKSTN AHLSLPQKSP SLAKEVPDLC FSDDYFSDKG
AAKEEKPKND QEPVNRIIQK KENNDHFELD CTGPSIKSPS SSIIKKASFE HGKKQENDLD
LLSDFIMLRN KYKTCTSKTE VTNSDEKHDK EACSLTLQEE SPIVHINKTL EEINQERGTD
SVIEIQASDS QCQAFCLLEA AASPILKNLV SLCTLPTANW KFATVIFDQT RFLLKEQEKV
VSDAVRQGYL SKAKDIYNSI LGPYLGDIWR QLEIVQFIRG KKPETNYKIQ ELQCQILSWM
QSQQQIKVLI IIRMDSDGEK HFLIKILNKI EGLTLTVLHS NERKDFLESE GVLRGTSSCV
VVHNQYIGAD FPWSNFSFVV EYNYVEDSCW TKHCKELNIP YMAFKVILPD TVLERSTLLD
RFGGFLLEIQ IPYVFFASEG LLNTPDILQL LESNYNISLV ERGCSESLKL FGSSECYVVV
TIDEHTAIIL QDLEELNYEK ASDNIIMRLM ALSLQYRYCW IILYTKETLN SEYLLTEKTL
HHLALIYAAL VSFGLNSEEL DVKLIIAPGV EATALIIRQI ADHSLMTSKR DPHEWLDKSW
LKVSPSEEEM YLLDFPCINP LVAQLMLNKG PSLHWILLAT LCQLQELLPE VPEKVLKHFC
SITSLFKIGS SSITKSPQIS SPQENRNQIS TLSSQSSASD LDSVIQEHNE YYQYLGLGET
VQEDKTTILN DNSSIMELKG ISSFLPPVTS YNQTSYWKDS SCKSNIGQNT PFLINIESRR
PAYNSFLNHS DSESDVFSLG LTQMNCETIK SPTDTQKRVS VVPRFINSQK RRTHEAKGFI
NKDVSDPIFS LEGTQSPLHW NFKKNIWEQE NHPFNLQYGA QQTACNKLYS QKGNLFTDQQ
KCLSDESEGL TCESSKDETF WRELPSVPSL DLFRASDSNA NQKEFNSLYF YQRAGKSLGQ
KRHHESSFNS GDKESLTGFM CSQLPQFKKR RLAYEKVPGR VDGQTRLRFF *
speed 1.01 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: 0.999754448821879 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:114454544T>CN/A show variant in all transcripts   IGV
HGNC symbol SHOC1
Ensembl transcript ID ENST00000318737
Genbank transcript ID NM_173521
UniProt peptide Q5VXU9
alteration type single base exchange
alteration region CDS
DNA changes c.3521A>G
cDNA.3650A>G
g.102745A>G
AA changes E1174G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1174
frameshift no
known variant Reference ID: rs7869279
databasehomozygous (C/C)heterozygousallele carriers
1000G70910711780
ExAC15213234117554
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0020.648
1.6290.605
(flanking)0.1760.111
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 248
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1174LNDNSSIMELKEISSFLPPVTSYN
mutated  not conserved    1174LNDNSSIMELKGISSFLPPVTSY
Ptroglodytes  all identical  ENSPTRG00000021260  1174LNDNSSIMELKEISSFLPPVTSY
Mmulatta  all identical  ENSMMUG00000023307  1238LNDNSSIMELKEISGFLPLVTSY
Fcatus  no alignment  ENSFCAG00000004341  n/a
Mmusculus  not conserved  ENSMUSG00000038598  1230-GTSSSPVELRATPCMLPSAAPH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4335 / 4335
position (AA) of stopcodon in wt / mu AA sequence 1445 / 1445
position of stopcodon in wt / mu cDNA 4464 / 4464
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 130 / 130
chromosome 9
strand -1
last intron/exon boundary 4364
theoretical NMD boundary in CDS 4184
length of CDS 4335
coding sequence (CDS) position 3521
cDNA position
(for ins/del: last normal base / first normal base)		 3650
gDNA position
(for ins/del: last normal base / first normal base)		 102745
chromosomal position
(for ins/del: last normal base / first normal base)		 114454544
original gDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered gDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
original cDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered cDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
wildtype AA sequence MTDTSVLDQW KASFFVEDFL EKKTITRMVT QINCEFEEVV PSSNPDSQIE VEEVSLYTHM
DYNEVFTPVS CLEKCSALQN QNQDLFIDDK GILFVSSRKH LPTLPTLLSR LKLFLVKDPL
LDFKGQIFTE ANFSRECFSL QETLEAFVKE DFCMDKVNFC QEKLEDTICL NEPSSFLIEY
EFLIPPSLKP EIDIPSLSEL KELLNPVPEI INYVDEKEKL FERDLTNKHG IEDIGDIKFS
STEILTIQSQ SEPEECSKPG ELEMPLTPLF LTCQHSSVNS LRTELQTFPL SPVCKINLLT
AEESANEYYM MWQLERCRSP LNPFLLTVPR IQEPHSQYSV TDLKKIFSVK EESLVINLEK
AEWWKQAGLN LKMMETLEHL NTYLCHDNLS SNDTKIEIFL PTKVLQLESC LEHKSHSSPI
ALIDEKSTNA HLSLPQKSPS LAKEVPDLCF SDDYFSDKGA AKEEKPKNDQ EPVNRIIQKK
ENNDHFELDC TGPSIKSPSS SIIKKASFEH GKKQENDLDL LSDFIMLRNK YKTCTSKTEV
TNSDEKHDKE ACSLTLQEES PIVHINKTLE EINQERGTDS VIEIQASDSQ CQAFCLLEAA
ASPILKNLVS LCTLPTANWK FATVIFDQTR FLLKEQEKVV SDAVRQGTID EREMTFKHAA
LLHLLVTIRD VLLTCSLDTA LGYLSKAKDI YNSILGPYLG DIWRQLEIVQ FIRGKKPETN
YKIQELQCQI LSWMQSQQQI KVLIIIRMDS DGEKHFLIKI LNKIEGLTLT VLHSNERKDF
LESEGVLRGT SSCVVVHNQY IGADFPWSNF SFVVEYNYVE DSCWTKHCKE LNIPYMAFKV
ILPDTVLERS TLLDRFGGFL LEIQIPYVFF ASEGLLNTPD ILQLLESNYN ISLVERGCSE
SLKLFGSSEC YVVVTIDEHT AIILQDLEEL NYEKASDNII MRLMALSLQY RYCWIILYTK
ETLNSEYLLT EKTLHHLALI YAALVSFGLN SEELDVKLII APGVEATALI IRQIADHSLM
TSKRDPHEWL DKSWLKVSPS EEEMYLLDFP CINPLVAQLM LNKGPSLHWI LLATLCQLQE
LLPEVPEKVL KHFCSITSLF KIGSSSITKS PQISSPQENR NQISTLSSQS SASDLDSVIQ
EHNEYYQYLG LGETVQEDKT TILNDNSSIM ELKEISSFLP PVTSYNQTSY WKDSSCKSNI
GQNTPFLINI ESRRPAYNSF LNHSDSESDV FSLGLTQMNC ETIKSPTDTQ KRVSVVPRFI
NSQKRRTHEA KGFINKDVSD PIFSLEGTQS PLHWNFKKNI WEQENHPFNL QYGAQQTACN
KLYSQKGNLF TDQQKCLSDE SEGLTCESSK DETFWRELPS VPSLDLFRAS DSNANQKEFN
SLYFYQRAGK SLGQKRHHES SFNSGDKESL TGFMCSQLPQ FKKRRLAYEK VPGRVDGQTR
LRFF*
mutated AA sequence MTDTSVLDQW KASFFVEDFL EKKTITRMVT QINCEFEEVV PSSNPDSQIE VEEVSLYTHM
DYNEVFTPVS CLEKCSALQN QNQDLFIDDK GILFVSSRKH LPTLPTLLSR LKLFLVKDPL
LDFKGQIFTE ANFSRECFSL QETLEAFVKE DFCMDKVNFC QEKLEDTICL NEPSSFLIEY
EFLIPPSLKP EIDIPSLSEL KELLNPVPEI INYVDEKEKL FERDLTNKHG IEDIGDIKFS
STEILTIQSQ SEPEECSKPG ELEMPLTPLF LTCQHSSVNS LRTELQTFPL SPVCKINLLT
AEESANEYYM MWQLERCRSP LNPFLLTVPR IQEPHSQYSV TDLKKIFSVK EESLVINLEK
AEWWKQAGLN LKMMETLEHL NTYLCHDNLS SNDTKIEIFL PTKVLQLESC LEHKSHSSPI
ALIDEKSTNA HLSLPQKSPS LAKEVPDLCF SDDYFSDKGA AKEEKPKNDQ EPVNRIIQKK
ENNDHFELDC TGPSIKSPSS SIIKKASFEH GKKQENDLDL LSDFIMLRNK YKTCTSKTEV
TNSDEKHDKE ACSLTLQEES PIVHINKTLE EINQERGTDS VIEIQASDSQ CQAFCLLEAA
ASPILKNLVS LCTLPTANWK FATVIFDQTR FLLKEQEKVV SDAVRQGTID EREMTFKHAA
LLHLLVTIRD VLLTCSLDTA LGYLSKAKDI YNSILGPYLG DIWRQLEIVQ FIRGKKPETN
YKIQELQCQI LSWMQSQQQI KVLIIIRMDS DGEKHFLIKI LNKIEGLTLT VLHSNERKDF
LESEGVLRGT SSCVVVHNQY IGADFPWSNF SFVVEYNYVE DSCWTKHCKE LNIPYMAFKV
ILPDTVLERS TLLDRFGGFL LEIQIPYVFF ASEGLLNTPD ILQLLESNYN ISLVERGCSE
SLKLFGSSEC YVVVTIDEHT AIILQDLEEL NYEKASDNII MRLMALSLQY RYCWIILYTK
ETLNSEYLLT EKTLHHLALI YAALVSFGLN SEELDVKLII APGVEATALI IRQIADHSLM
TSKRDPHEWL DKSWLKVSPS EEEMYLLDFP CINPLVAQLM LNKGPSLHWI LLATLCQLQE
LLPEVPEKVL KHFCSITSLF KIGSSSITKS PQISSPQENR NQISTLSSQS SASDLDSVIQ
EHNEYYQYLG LGETVQEDKT TILNDNSSIM ELKGISSFLP PVTSYNQTSY WKDSSCKSNI
GQNTPFLINI ESRRPAYNSF LNHSDSESDV FSLGLTQMNC ETIKSPTDTQ KRVSVVPRFI
NSQKRRTHEA KGFINKDVSD PIFSLEGTQS PLHWNFKKNI WEQENHPFNL QYGAQQTACN
KLYSQKGNLF TDQQKCLSDE SEGLTCESSK DETFWRELPS VPSLDLFRAS DSNANQKEFN
SLYFYQRAGK SLGQKRHHES SFNSGDKESL TGFMCSQLPQ FKKRRLAYEK VPGRVDGQTR
LRFF*
speed 0.71 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

polymorphism

 Model: simple_aae, prob: 0.999754448821879 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:114454544T>CN/A show variant in all transcripts   IGV
HGNC symbol SHOC1
Ensembl transcript ID ENST00000374287
Genbank transcript ID N/A
UniProt peptide Q5VXU9
alteration type single base exchange
alteration region CDS
DNA changes c.3521A>G
cDNA.3782A>G
g.102745A>G
AA changes E1174G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1174
frameshift no
known variant Reference ID: rs7869279
databasehomozygous (C/C)heterozygousallele carriers
1000G70910711780
ExAC15213234117554
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0020.648
1.6290.605
(flanking)0.1760.111
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 248
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1174LNDNSSIMELKEISSFLPPVTSYN
mutated  not conserved    1174LNDNSSIMELKGISSFLPPVTSY
Ptroglodytes  all identical  ENSPTRG00000021260  1174LNDNSSIMELKEISSFLPPVTSY
Mmulatta  all identical  ENSMMUG00000023307  1238LNDNSSIMELKEISGFLPLVTSY
Fcatus  no alignment  ENSFCAG00000004341  n/a
Mmusculus  not conserved  ENSMUSG00000038598  1230-GTSSSPVELRATPCMLPSAAPH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4335 / 4335
position (AA) of stopcodon in wt / mu AA sequence 1445 / 1445
position of stopcodon in wt / mu cDNA 4596 / 4596
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 262 / 262
chromosome 9
strand -1
last intron/exon boundary 4496
theoretical NMD boundary in CDS 4184
length of CDS 4335
coding sequence (CDS) position 3521
cDNA position
(for ins/del: last normal base / first normal base)		 3782
gDNA position
(for ins/del: last normal base / first normal base)		 102745
chromosomal position
(for ins/del: last normal base / first normal base)		 114454544
original gDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered gDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
original cDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered cDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
wildtype AA sequence MTDTSVLDQW KASFFVEDFL EKKTITRMVT QINCEFEEVV PSSNPDSQIE VEEVSLYTHM
DYNEVFTPVS CLEKCSALQN QNQDLFIDDK GILFVSSRKH LPTLPTLLSR LKLFLVKDPL
LDFKGQIFTE ANFSRECFSL QETLEAFVKE DFCMDKVNFC QEKLEDTICL NEPSSFLIEY
EFLIPPSLKP EIDIPSLSEL KELLNPVPEI INYVDEKEKL FERDLTNKHG IEDIGDIKFS
STEILTIQSQ SEPEECSKPG ELEMPLTPLF LTCQHSSVNS LRTELQTFPL SPVCKINLLT
AEESANEYYM MWQLERCRSP LNPFLLTVPR IQEPHSQYSV TDLKKIFSVK EESLVINLEK
AEWWKQAGLN LKMMETLEHL NTYLCHDNLS SNDTKIEIFL PTKVLQLESC LEHKSHSSPI
ALIDEKSTNA HLSLPQKSPS LAKEVPDLCF SDDYFSDKGA AKEEKPKNDQ EPVNRIIQKK
ENNDHFELDC TGPSIKSPSS SIIKKASFEH GKKQENDLDL LSDFIMLRNK YKTCTSKTEV
TNSDEKHDKE ACSLTLQEES PIVHINKTLE EINQERGTDS VIEIQASDSQ CQAFCLLEAA
ASPILKNLVS LCTLPTANWK FATVIFDQTR FLLKEQEKVV SDAVRQGTID EREMTFKHAA
LLHLLVTIRD VLLTCSLDTA LGYLSKAKDI YNSILGPYLG DIWRQLEIVQ FIRGKKPETN
YKIQELQCQI LSWMQSQQQI KVLIIIRMDS DGEKHFLIKI LNKIEGLTLT VLHSNERKDF
LESEGVLRGT SSCVVVHNQY IGADFPWSNF SFVVEYNYVE DSCWTKHCKE LNIPYMAFKV
ILPDTVLERS TLLDRFGGFL LEIQIPYVFF ASEGLLNTPD ILQLLESNYN ISLVERGCSE
SLKLFGSSEC YVVVTIDEHT AIILQDLEEL NYEKASDNII MRLMALSLQY RYCWIILYTK
ETLNSEYLLT EKTLHHLALI YAALVSFGLN SEELDVKLII APGVEATALI IRQIADHSLM
TSKRDPHEWL DKSWLKVSPS EEEMYLLDFP CINPLVAQLM LNKGPSLHWI LLATLCQLQE
LLPEVPEKVL KHFCSITSLF KIGSSSITKS PQISSPQENR NQISTLSSQS SASDLDSVIQ
EHNEYYQYLG LGETVQEDKT TILNDNSSIM ELKEISSFLP PVTSYNQTSY WKDSSCKSNI
GQNTPFLINI ESRRPAYNSF LNHSDSESDV FSLGLTQMNC ETIKSPTDTQ KRVSVVPRFI
NSQKRRTHEA KGFINKDVSD PIFSLEGTQS PLHWNFKKNI WEQENHPFNL QYGAQQTACN
KLYSQKGNLF TDQQKCLSDE SEGLTCESSK DETFWRELPS VPSLDLFRAS DSNANQKEFN
SLYFYQRAGK SLGQKRHHES SFNSGDKESL TGFMCSQLPQ FKKRRLAYEK VPGRVDGQTR
LRFF*
mutated AA sequence MTDTSVLDQW KASFFVEDFL EKKTITRMVT QINCEFEEVV PSSNPDSQIE VEEVSLYTHM
DYNEVFTPVS CLEKCSALQN QNQDLFIDDK GILFVSSRKH LPTLPTLLSR LKLFLVKDPL
LDFKGQIFTE ANFSRECFSL QETLEAFVKE DFCMDKVNFC QEKLEDTICL NEPSSFLIEY
EFLIPPSLKP EIDIPSLSEL KELLNPVPEI INYVDEKEKL FERDLTNKHG IEDIGDIKFS
STEILTIQSQ SEPEECSKPG ELEMPLTPLF LTCQHSSVNS LRTELQTFPL SPVCKINLLT
AEESANEYYM MWQLERCRSP LNPFLLTVPR IQEPHSQYSV TDLKKIFSVK EESLVINLEK
AEWWKQAGLN LKMMETLEHL NTYLCHDNLS SNDTKIEIFL PTKVLQLESC LEHKSHSSPI
ALIDEKSTNA HLSLPQKSPS LAKEVPDLCF SDDYFSDKGA AKEEKPKNDQ EPVNRIIQKK
ENNDHFELDC TGPSIKSPSS SIIKKASFEH GKKQENDLDL LSDFIMLRNK YKTCTSKTEV
TNSDEKHDKE ACSLTLQEES PIVHINKTLE EINQERGTDS VIEIQASDSQ CQAFCLLEAA
ASPILKNLVS LCTLPTANWK FATVIFDQTR FLLKEQEKVV SDAVRQGTID EREMTFKHAA
LLHLLVTIRD VLLTCSLDTA LGYLSKAKDI YNSILGPYLG DIWRQLEIVQ FIRGKKPETN
YKIQELQCQI LSWMQSQQQI KVLIIIRMDS DGEKHFLIKI LNKIEGLTLT VLHSNERKDF
LESEGVLRGT SSCVVVHNQY IGADFPWSNF SFVVEYNYVE DSCWTKHCKE LNIPYMAFKV
ILPDTVLERS TLLDRFGGFL LEIQIPYVFF ASEGLLNTPD ILQLLESNYN ISLVERGCSE
SLKLFGSSEC YVVVTIDEHT AIILQDLEEL NYEKASDNII MRLMALSLQY RYCWIILYTK
ETLNSEYLLT EKTLHHLALI YAALVSFGLN SEELDVKLII APGVEATALI IRQIADHSLM
TSKRDPHEWL DKSWLKVSPS EEEMYLLDFP CINPLVAQLM LNKGPSLHWI LLATLCQLQE
LLPEVPEKVL KHFCSITSLF KIGSSSITKS PQISSPQENR NQISTLSSQS SASDLDSVIQ
EHNEYYQYLG LGETVQEDKT TILNDNSSIM ELKGISSFLP PVTSYNQTSY WKDSSCKSNI
GQNTPFLINI ESRRPAYNSF LNHSDSESDV FSLGLTQMNC ETIKSPTDTQ KRVSVVPRFI
NSQKRRTHEA KGFINKDVSD PIFSLEGTQS PLHWNFKKNI WEQENHPFNL QYGAQQTACN
KLYSQKGNLF TDQQKCLSDE SEGLTCESSK DETFWRELPS VPSLDLFRAS DSNANQKEFN
SLYFYQRAGK SLGQKRHHES SFNSGDKESL TGFMCSQLPQ FKKRRLAYEK VPGRVDGQTR
LRFF*
speed 0.96 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