Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999634 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:121414061C>TN/A show variant in all transcripts   IGV
HGNC symbol GOLGB1
Ensembl transcript ID ENST00000340645
Genbank transcript ID NM_001256488
UniProt peptide Q14789
alteration type single base exchange
alteration region CDS
DNA changes c.5294G>A
cDNA.5420G>A
g.54542G>A
AA changes G1765D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1765
frameshift no
known variant Reference ID: rs1127412
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC38532134225195
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8920
-1.630
(flanking)0.0930.045
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 increased54540wt: 0.7118 / mu: 0.7512 (marginal change - not scored)wt: ATAGAAGGTAATGTA
mu: ATAGAAGATAATGTA		 AGAA|ggta
distance from splice site 1474
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1765EEVQDLKHQIEGNVSKQANLEATE
mutated  not conserved    1765EEVQDLKHQIEDNVSKQANLEAT
Ptroglodytes  all identical  ENSPTRG00000015280  1765EEVQDLKHQIEGNVSKQANLEAT
Mmulatta  not conserved  ENSMMUG00000013546  1731EEVQDLKHQLESNVSKQANLE
Fcatus  no alignment  ENSFCAG00000015525  n/a
Mmusculus  not conserved  ENSMUSG00000034243  1753EETRNLKLQVEAQVLKQASLEAT
Ggallus  not conserved  ENSGALG00000009783  1302IAQLLPETEGLTRTSDQAEAETARLRRELEED
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000061951  2130LEAEELRLRLEKIQSKGVETFDT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000033340  1687QEAECLRNQFQSIESKLEKIEKE
protein features
start (aa)end (aa)featuredetails 
13235TOPO_DOMCytoplasmic (Potential).lost
13011779COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 9780 / 9780
position (AA) of stopcodon in wt / mu AA sequence 3260 / 3260
position of stopcodon in wt / mu cDNA 9906 / 9906
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 3
strand -1
last intron/exon boundary 9772
theoretical NMD boundary in CDS 9595
length of CDS 9780
coding sequence (CDS) position 5294
cDNA position
(for ins/del: last normal base / first normal base)		 5420
gDNA position
(for ins/del: last normal base / first normal base)		 54542
chromosomal position
(for ins/del: last normal base / first normal base)		 121414061
original gDNA sequence snippet TTTAAAGCATCAGATAGAAGGTAATGTATCTAAACAAGCTA
altered gDNA sequence snippet TTTAAAGCATCAGATAGAAGATAATGTATCTAAACAAGCTA
original cDNA sequence snippet TTTAAAGCATCAGATAGAAGGTAATGTATCTAAACAAGCTA
altered cDNA sequence snippet TTTAAAGCATCAGATAGAAGATAATGTATCTAAACAAGCTA
wildtype AA sequence MLSRLSGLAN VVLHELSGDD DTDQNMRAPL DPELHQESDM EFNNTTQEDV QERLAYAEQL
VVELKDIIRQ KDVQLQQKDE ALQEERKAAD NKIKKLKLHA KAKLTSLNKY IEEMKAQGGT
VLPTEPQSEE QLSKHDKSST EEEMEIEKIK HKLQEKEELI STLQAQLTQA QAEQPAQSST
EMEEFVMMKQ QLQEKEEFIS TLQAQLSQTQ AEQAAQQVVR EKDARFETQV RLHEDELLQL
VTQADVETEM QQKLRVLQRK LEEHEESLVG RAQVVDLLQQ ELTAAEQRNQ ILSQQLQQME
AEHNTLRNTV ETEREESKIL LEKMELEVAE RKLSFHNLQE EMHHLLEQFE QAGQAQAELE
SRYSALEQKH KAEMEEKTSH ILSLQKTGQE LQSACDALKD QNSKLLQDKN EQAVQSAQTI
QQLEDQLQQK SKEISQFLNR LPLQQHETAS QTSFPDVYNE GTQAVTEENI ASLQKRVVEL
ENEKGALLLS SIELEELKAE NEKLSSQITL LEAQNRTGEA DREVSEISIV DIANKRSSSA
EESGQDVLEN TFSQKHKELS VLLLEMKEAQ EEIAFLKLQL QGKRAEEADH EVLDQKEMKQ
MEGEGIAPIK MKVFLEDTGQ DFPLMPNEES SLPAVEKEQA STEHQSRTSE EISLNDAGVE
LKSTKQDGDK SLSAVPDIGQ CHQDELERLK SQILELELNF HKAQEIYEKN LDEKAKEISN
LNQLIEEFKK NADNNSSAFT ALSEERDQLL SQVKELSMVT ELRAQVKQLE MNLAEAERQR
RLDYESQTAH DNLLTEQIHS LSIEAKSKDV KIEVLQNELD DVQLQFSEQS TLIRSLQSQL
QNKESEVLEG AERVRHISSK VEELSQALSQ KELEITKMDQ LLLEKKRDVE TLQQTIEEKD
QQVTEISFSM TEKMVQLNEE KFSLGVEIKT LKEQLNLLSR AEEAKKEQVE EDNEVSSGLK
QNYDEMSPAG QISKEELQHE FDLLKKENEQ RKRKLQAALI NRKELLQRVS RLEEELANLK
DESKKEIPLS ETERGEVEED KENKEYSEKC VTSKCQEIEI YLKQTISEKE VELQHIRKDL
EEKLAAEEQF QALVKQMNQT LQDKTNQIDL LQAEISENQA IIQKLITSNT DASDGDSVAL
VKETVVISPP CTGSSEHWKP ELEEKILALE KEKEQLQKKL QEALTSRKAI LKKAQEKERH
LREELKQQKD DYNRLQEQFD EQSKENENIG DQLRQLQIQV RESIDGKLPS TDQQESCSST
PGLEEPLFKA TEQHHTQPVL ESNLCPDWPS HSEDASALQG GTSVAQIKAQ LKEIEAEKVE
LELKVSSTTS ELTKKSEEVF QLQEQINKQG LEIESLKTVS HEAEVHAESL QQKLESSQLQ
IAGLEHLREL QPKLDELQKL ISKKEEDVSY LSGQLSEKEA ALTKIQTEII EQEDLIKALH
TQLEMQAKEH DERIKQLQVE LCEMKQKPEE IGEESRAKQQ IQRKLQAALI SRKEALKENK
SLQEELSLAR GTIERLTKSL ADVESQVSAQ NKEKDTVLGR LALLQEERDK LITEMDRSLL
ENQSLSSSCE SLKLALEGLT EDKEKLVKEI ESLKSSKIAE STEWQEKHKE LQKEYEILLQ
SYENVSNEAE RIQHVVEAVR QEKQELYGKL RSTEANKKET EKQLQEAEQE MEEMKEKMRK
FAKSKQQKIL ELEEENDRLR AEVHPAGDTA KECMETLLSS NASMKEELER VKMEYETLSK
KFQSLMSEKD SLSEEVQDLK HQIEGNVSKQ ANLEATEKHD NQTNVTEEGT QSIPGETEEQ
DSLSMSTRPT CSESVPSAKS ANPAVSKDFS SHDEINNYLQ QIDQLKERIA GLEEEKQKNK
EFSQTLENEK NTLLSQISTK DGELKMLQEE VTKMNLLNQQ IQEELSRVTK LKETAEEEKD
DLEERLMNQL AELNGSIGNY CQDVTDAQIK NELLESEMKN LKKCVSELEE EKQQLVKEKT
KVESEIRKEY LEKIQGAQKE PGNKSHAKEL QELLKEKQQE VKQLQKDCIR YQEKISALER
TVKALEFVQT ESQKDLEITK ENLAQAVEHR KKAQAELASF KVLLDDTQSE AARVLADNLK
LKKELQSNKE SVKSQMKQKD EDLERRLEQA EEKHLKEKKN MQEKLDALRR EKVHLEETIG
EIQVTLNKKD KEVQQLQENL DSTVTQLAAF TKSMSSLQDD RDRVIDEAKK WERKFSDAIQ
SKEEEIRLKE DNCSVLKDQL RQMSIHMEEL KINISRLEHD KQIWESKAQT EVQLQQKVCD
TLQGENKELL SQLEETRHLY HSSQNELAKL ESELKSLKDQ LTDLSNSLEK CKEQKGNLEG
IIRQQEADIQ NSKFSYEQLE TDLQASRELT SRLHEEINMK EQKIISLLSG KEEAIQVAIA
ELRQQHDKEI KELENLLSQE EEENIVLEEE NKKAVDKTNQ LMETLKTIKK ENIQQKAQLD
SFVKSMSSLQ NDRDRIVGDY QQLEERHLSI ILEKDQLIQE AAAENNKLKE EIRGLRSHMD
DLNSENAKLD AELIQYREDL NQVITIKDSQ QKQLLEVQLQ QNKELENKYA KLEEKLKESE
EANEDLRRSF NALQEEKQDL SKEIESLKVS ISQLTRQVTA LQEEGTLGLY HAQLKVKEEE
VHRLSALFSS SQKRIAELEE ELVCVQKEAA KKVGEIEDKL KKELKHLHHD AGIMRNETET
AEERVAELAR DLVEMEQKLL MVTKENKGLT AQIQSFGRSM SSLQNSRDHA NEELDELKRK
YDASLKELAQ LKEQGLLNRE RDALLSETAF SMNSTEENSL SHLEKLNQQL LSKDEQLLHL
SSQLEDSYNQ VQSFSKAMAS LQNERDHLWN ELEKFRKSEE GKQRSAAQPS TSPAEVQSLK
KAMSSLQNDR DRLLKELKNL QQQYLQINQE ITELHPLKAQ LQEYQDKTKA FQIMQEELRQ
ENLSWQHELH QLRMEKSSWE IHERRMKEQY LMAISDKDQQ LSHLQNLIRE LRSSSSQTQP
LKVQYQRQAS PETSASPDGS QNLVYETELL RTQLNDSLKE IHQKELRIQQ LNSNFSQLLE
EKNTLSIQLC DTSQSLRENQ QHYGDLLNHC AVLEKQVQEL QAGPLNIDVA PGAPQEKNGV
HRKSDPEELR EPQQSFSEAQ QQLCNTRQEV NELRKLLEEE RDQRVAAENA LSVAEEQIRR
LEHSEWDSSR TPIIGSCGTQ EQALLIDLTS NSCRRTRSGV GWKRVLRSLC HSRTRVPLLA
AIYFLMIHVL LILCFTGHL*
mutated AA sequence MLSRLSGLAN VVLHELSGDD DTDQNMRAPL DPELHQESDM EFNNTTQEDV QERLAYAEQL
VVELKDIIRQ KDVQLQQKDE ALQEERKAAD NKIKKLKLHA KAKLTSLNKY IEEMKAQGGT
VLPTEPQSEE QLSKHDKSST EEEMEIEKIK HKLQEKEELI STLQAQLTQA QAEQPAQSST
EMEEFVMMKQ QLQEKEEFIS TLQAQLSQTQ AEQAAQQVVR EKDARFETQV RLHEDELLQL
VTQADVETEM QQKLRVLQRK LEEHEESLVG RAQVVDLLQQ ELTAAEQRNQ ILSQQLQQME
AEHNTLRNTV ETEREESKIL LEKMELEVAE RKLSFHNLQE EMHHLLEQFE QAGQAQAELE
SRYSALEQKH KAEMEEKTSH ILSLQKTGQE LQSACDALKD QNSKLLQDKN EQAVQSAQTI
QQLEDQLQQK SKEISQFLNR LPLQQHETAS QTSFPDVYNE GTQAVTEENI ASLQKRVVEL
ENEKGALLLS SIELEELKAE NEKLSSQITL LEAQNRTGEA DREVSEISIV DIANKRSSSA
EESGQDVLEN TFSQKHKELS VLLLEMKEAQ EEIAFLKLQL QGKRAEEADH EVLDQKEMKQ
MEGEGIAPIK MKVFLEDTGQ DFPLMPNEES SLPAVEKEQA STEHQSRTSE EISLNDAGVE
LKSTKQDGDK SLSAVPDIGQ CHQDELERLK SQILELELNF HKAQEIYEKN LDEKAKEISN
LNQLIEEFKK NADNNSSAFT ALSEERDQLL SQVKELSMVT ELRAQVKQLE MNLAEAERQR
RLDYESQTAH DNLLTEQIHS LSIEAKSKDV KIEVLQNELD DVQLQFSEQS TLIRSLQSQL
QNKESEVLEG AERVRHISSK VEELSQALSQ KELEITKMDQ LLLEKKRDVE TLQQTIEEKD
QQVTEISFSM TEKMVQLNEE KFSLGVEIKT LKEQLNLLSR AEEAKKEQVE EDNEVSSGLK
QNYDEMSPAG QISKEELQHE FDLLKKENEQ RKRKLQAALI NRKELLQRVS RLEEELANLK
DESKKEIPLS ETERGEVEED KENKEYSEKC VTSKCQEIEI YLKQTISEKE VELQHIRKDL
EEKLAAEEQF QALVKQMNQT LQDKTNQIDL LQAEISENQA IIQKLITSNT DASDGDSVAL
VKETVVISPP CTGSSEHWKP ELEEKILALE KEKEQLQKKL QEALTSRKAI LKKAQEKERH
LREELKQQKD DYNRLQEQFD EQSKENENIG DQLRQLQIQV RESIDGKLPS TDQQESCSST
PGLEEPLFKA TEQHHTQPVL ESNLCPDWPS HSEDASALQG GTSVAQIKAQ LKEIEAEKVE
LELKVSSTTS ELTKKSEEVF QLQEQINKQG LEIESLKTVS HEAEVHAESL QQKLESSQLQ
IAGLEHLREL QPKLDELQKL ISKKEEDVSY LSGQLSEKEA ALTKIQTEII EQEDLIKALH
TQLEMQAKEH DERIKQLQVE LCEMKQKPEE IGEESRAKQQ IQRKLQAALI SRKEALKENK
SLQEELSLAR GTIERLTKSL ADVESQVSAQ NKEKDTVLGR LALLQEERDK LITEMDRSLL
ENQSLSSSCE SLKLALEGLT EDKEKLVKEI ESLKSSKIAE STEWQEKHKE LQKEYEILLQ
SYENVSNEAE RIQHVVEAVR QEKQELYGKL RSTEANKKET EKQLQEAEQE MEEMKEKMRK
FAKSKQQKIL ELEEENDRLR AEVHPAGDTA KECMETLLSS NASMKEELER VKMEYETLSK
KFQSLMSEKD SLSEEVQDLK HQIEDNVSKQ ANLEATEKHD NQTNVTEEGT QSIPGETEEQ
DSLSMSTRPT CSESVPSAKS ANPAVSKDFS SHDEINNYLQ QIDQLKERIA GLEEEKQKNK
EFSQTLENEK NTLLSQISTK DGELKMLQEE VTKMNLLNQQ IQEELSRVTK LKETAEEEKD
DLEERLMNQL AELNGSIGNY CQDVTDAQIK NELLESEMKN LKKCVSELEE EKQQLVKEKT
KVESEIRKEY LEKIQGAQKE PGNKSHAKEL QELLKEKQQE VKQLQKDCIR YQEKISALER
TVKALEFVQT ESQKDLEITK ENLAQAVEHR KKAQAELASF KVLLDDTQSE AARVLADNLK
LKKELQSNKE SVKSQMKQKD EDLERRLEQA EEKHLKEKKN MQEKLDALRR EKVHLEETIG
EIQVTLNKKD KEVQQLQENL DSTVTQLAAF TKSMSSLQDD RDRVIDEAKK WERKFSDAIQ
SKEEEIRLKE DNCSVLKDQL RQMSIHMEEL KINISRLEHD KQIWESKAQT EVQLQQKVCD
TLQGENKELL SQLEETRHLY HSSQNELAKL ESELKSLKDQ LTDLSNSLEK CKEQKGNLEG
IIRQQEADIQ NSKFSYEQLE TDLQASRELT SRLHEEINMK EQKIISLLSG KEEAIQVAIA
ELRQQHDKEI KELENLLSQE EEENIVLEEE NKKAVDKTNQ LMETLKTIKK ENIQQKAQLD
SFVKSMSSLQ NDRDRIVGDY QQLEERHLSI ILEKDQLIQE AAAENNKLKE EIRGLRSHMD
DLNSENAKLD AELIQYREDL NQVITIKDSQ QKQLLEVQLQ QNKELENKYA KLEEKLKESE
EANEDLRRSF NALQEEKQDL SKEIESLKVS ISQLTRQVTA LQEEGTLGLY HAQLKVKEEE
VHRLSALFSS SQKRIAELEE ELVCVQKEAA KKVGEIEDKL KKELKHLHHD AGIMRNETET
AEERVAELAR DLVEMEQKLL MVTKENKGLT AQIQSFGRSM SSLQNSRDHA NEELDELKRK
YDASLKELAQ LKEQGLLNRE RDALLSETAF SMNSTEENSL SHLEKLNQQL LSKDEQLLHL
SSQLEDSYNQ VQSFSKAMAS LQNERDHLWN ELEKFRKSEE GKQRSAAQPS TSPAEVQSLK
KAMSSLQNDR DRLLKELKNL QQQYLQINQE ITELHPLKAQ LQEYQDKTKA FQIMQEELRQ
ENLSWQHELH QLRMEKSSWE IHERRMKEQY LMAISDKDQQ LSHLQNLIRE LRSSSSQTQP
LKVQYQRQAS PETSASPDGS QNLVYETELL RTQLNDSLKE IHQKELRIQQ LNSNFSQLLE
EKNTLSIQLC DTSQSLRENQ QHYGDLLNHC AVLEKQVQEL QAGPLNIDVA PGAPQEKNGV
HRKSDPEELR EPQQSFSEAQ QQLCNTRQEV NELRKLLEEE RDQRVAAENA LSVAEEQIRR
LEHSEWDSSR TPIIGSCGTQ EQALLIDLTS NSCRRTRSGV GWKRVLRSLC HSRTRVPLLA
AIYFLMIHVL LILCFTGHL*
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