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 1.02 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