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 ENST00000393667
Genbank transcript ID NM_001256486
UniProt peptide Q14789
alteration type single base exchange
alteration region CDS
DNA changes c.5309G>A
cDNA.5420G>A
g.54542G>A
AA changes G1770D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1770
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      1770EEVQDLKHQIEGNVSKQANLEATE
mutated  not conserved    1770EEVQDLKHQIEDNVSKQANLEAT
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 9810 / 9810
position (AA) of stopcodon in wt / mu AA sequence 3270 / 3270
position of stopcodon in wt / mu cDNA 9921 / 9921
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 112 / 112
chromosome 3
strand -1
last intron/exon boundary 9787
theoretical NMD boundary in CDS 9625
length of CDS 9810
coding sequence (CDS) position 5309
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 AEQAAQLSSM QQVVREKDAR FETQVRLHED
ELLQLVTQAD VETEMQQKLR VLQRKLEEHE ESLVGRAQVV DLLQQELTAA EQRNQILSQQ
LQQMEAEHNT LRNTVETERE ESKILLEKME LEVAERKLSF HNLQEEMHHL LEQFEQAGQA
QAELESRYSA LEQKHKAEME EKTSHILSLQ KTGQELQSAC DALKDQNSKL LQDKNEQAVQ
SAQTIQQLED QLQQKSKEIS QFLNRLPLQQ HETASQTSFP DVYNEGTQAV TEENIASLQK
RVVELENEKG ALLLSSIELE ELKAENEKLS SQITLLEAQN RTGEADREVS EISIVDIANK
RSSSAEESGQ DVLENTFSQK HKELSVLLLE MKEAQEEIAF LKLQLQGKRA EEADHEVLDQ
KEMKQMEGEG IAPIKMKVFL EDTGQDFPLM PNEESSLPAV EKEQASTEHQ SRTSEEISLN
DAGVELKSTK QDGDKSLSAV PDIGQCHQDE LERLKSQILE LELNFHKAQE IYEKNLDEKA
KEISNLNQLI EEFKKNADNN SSAFTALSEE RDQLLSQVKE LSMVTELRAQ VKQLEMNLAE
AERQRRLDYE SQTAHDNLLT EQIHSLSIEA KSKDVKIEVL QNELDDVQLQ FSEQSTLIRS
LQSQLQNKES EVLEGAERVR HISSKVEELS QALSQKELEI TKMDQLLLEK KRDVETLQQT
IEEKDQQVTE ISFSMTEKMV QLNEEKFSLG VEIKTLKEQL NLLSRAEEAK KEQVEEDNEV
SSGLKQNYDE MSPAGQISKE ELQHEFDLLK KENEQRKRKL QAALINRKEL LQRVSRLEEE
LANLKDESKK EIPLSETERG EVEEDKENKE YSEKCVTSKC QEIEIYLKQT ISEKEVELQH
IRKDLEEKLA AEEQFQALVK QMNQTLQDKT NQIDLLQAEI SENQAIIQKL ITSNTDASDG
DSVALVKETV VISPPCTGSS EHWKPELEEK ILALEKEKEQ LQKKLQEALT SRKAILKKAQ
EKERHLREEL KQQKDDYNRL QEQFDEQSKE NENIGDQLRQ LQIQVRESID GKLPSTDQQE
SCSSTPGLEE PLFKATEQHH TQPVLESNLC PDWPSHSEDA SALQGGTSVA QIKAQLKEIE
AEKVELELKV SSTTSELTKK SEEVFQLQEQ INKQGLEIES LKTVSHEAEV HAESLQQKLE
SSQLQIAGLE HLRELQPKLD ELQKLISKKE EDVSYLSGQL SEKEAALTKI QTEIIEQEDL
IKALHTQLEM QAKEHDERIK QLQVELCEMK QKPEEIGEES RAKQQIQRKL QAALISRKEA
LKENKSLQEE LSLARGTIER LTKSLADVES QVSAQNKEKD TVLGRLALLQ EERDKLITEM
DRSLLENQSL SSSCESLKLA LEGLTEDKEK LVKEIESLKS SKIAESTEWQ EKHKELQKEY
EILLQSYENV SNEAERIQHV VEAVRQEKQE LYGKLRSTEA NKKETEKQLQ EAEQEMEEMK
EKMRKFAKSK QQKILELEEE NDRLRAEVHP AGDTAKECME TLLSSNASMK EELERVKMEY
ETLSKKFQSL MSEKDSLSEE VQDLKHQIEG NVSKQANLEA TEKHDNQTNV TEEGTQSIPG
ETEEQDSLSM STRPTCSESV PSAKSANPAV SKDFSSHDEI NNYLQQIDQL KERIAGLEEE
KQKNKEFSQT LENEKNTLLS QISTKDGELK MLQEEVTKMN LLNQQIQEEL SRVTKLKETA
EEEKDDLEER LMNQLAELNG SIGNYCQDVT DAQIKNELLE SEMKNLKKCV SELEEEKQQL
VKEKTKVESE IRKEYLEKIQ GAQKEPGNKS HAKELQELLK EKQQEVKQLQ KDCIRYQEKI
SALERTVKAL EFVQTESQKD LEITKENLAQ AVEHRKKAQA ELASFKVLLD DTQSEAARVL
ADNLKLKKEL QSNKESVKSQ MKQKDEDLER RLEQAEEKHL KEKKNMQEKL DALRREKVHL
EETIGEIQVT LNKKDKEVQQ LQENLDSTVT QLAAFTKSMS SLQDDRDRVI DEAKKWERKF
SDAIQSKEEE IRLKEDNCSV LKDQLRQMSI HMEELKINIS RLEHDKQIWE SKAQTEVQLQ
QKVCDTLQGE NKELLSQLEE TRHLYHSSQN ELAKLESELK SLKDQLTDLS NSLEKCKEQK
GNLEGIIRQQ EADIQNSKFS YEQLETDLQA SRELTSRLHE EINMKEQKII SLLSGKEEAI
QVAIAELRQQ HDKEIKELEN LLSQEEEENI VLEEENKKAV DKTNQLMETL KTIKKENIQQ
KAQLDSFVKS MSSLQNDRDR IVGDYQQLEE RHLSIILEKD QLIQEAAAEN NKLKEEIRGL
RSHMDDLNSE NAKLDAELIQ YREDLNQVIT IKDSQQKQLL EVQLQQNKEL ENKYAKLEEK
LKESEEANED LRRSFNALQE EKQDLSKEIE SLKVSISQLT RQVTALQEEG TLGLYHAQLK
VKEEEVHRLS ALFSSSQKRI AELEEELVCV QKEAAKKVGE IEDKLKKELK HLHHDAGIMR
NETETAEERV AELARDLVEM EQKLLMVTKE NKGLTAQIQS FGRSMSSLQN SRDHANEELD
ELKRKYDASL KELAQLKEQG LLNRERDALL SETAFSMNST EENSLSHLEK LNQQLLSKDE
QLLHLSSQLE DSYNQVQSFS KAMASLQNER DHLWNELEKF RKSEEGKQRS AAQPSTSPAE
VQSLKKAMSS LQNDRDRLLK ELKNLQQQYL QINQEITELH PLKAQLQEYQ DKTKAFQIMQ
EELRQENLSW QHELHQLRME KSSWEIHERR MKEQYLMAIS DKDQQLSHLQ NLIRELRSSS
SQTQPLKVQY QRQASPETSA SPDGSQNLVY ETELLRTQLN DSLKEIHQKE LRIQQLNSNF
SQLLEEKNTL SIQLCDTSQS LRENQQHYGD LLNHCAVLEK QVQELQAVSK EKGPLNIDVA
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 AEQAAQLSSM QQVVREKDAR FETQVRLHED
ELLQLVTQAD VETEMQQKLR VLQRKLEEHE ESLVGRAQVV DLLQQELTAA EQRNQILSQQ
LQQMEAEHNT LRNTVETERE ESKILLEKME LEVAERKLSF HNLQEEMHHL LEQFEQAGQA
QAELESRYSA LEQKHKAEME EKTSHILSLQ KTGQELQSAC DALKDQNSKL LQDKNEQAVQ
SAQTIQQLED QLQQKSKEIS QFLNRLPLQQ HETASQTSFP DVYNEGTQAV TEENIASLQK
RVVELENEKG ALLLSSIELE ELKAENEKLS SQITLLEAQN RTGEADREVS EISIVDIANK
RSSSAEESGQ DVLENTFSQK HKELSVLLLE MKEAQEEIAF LKLQLQGKRA EEADHEVLDQ
KEMKQMEGEG IAPIKMKVFL EDTGQDFPLM PNEESSLPAV EKEQASTEHQ SRTSEEISLN
DAGVELKSTK QDGDKSLSAV PDIGQCHQDE LERLKSQILE LELNFHKAQE IYEKNLDEKA
KEISNLNQLI EEFKKNADNN SSAFTALSEE RDQLLSQVKE LSMVTELRAQ VKQLEMNLAE
AERQRRLDYE SQTAHDNLLT EQIHSLSIEA KSKDVKIEVL QNELDDVQLQ FSEQSTLIRS
LQSQLQNKES EVLEGAERVR HISSKVEELS QALSQKELEI TKMDQLLLEK KRDVETLQQT
IEEKDQQVTE ISFSMTEKMV QLNEEKFSLG VEIKTLKEQL NLLSRAEEAK KEQVEEDNEV
SSGLKQNYDE MSPAGQISKE ELQHEFDLLK KENEQRKRKL QAALINRKEL LQRVSRLEEE
LANLKDESKK EIPLSETERG EVEEDKENKE YSEKCVTSKC QEIEIYLKQT ISEKEVELQH
IRKDLEEKLA AEEQFQALVK QMNQTLQDKT NQIDLLQAEI SENQAIIQKL ITSNTDASDG
DSVALVKETV VISPPCTGSS EHWKPELEEK ILALEKEKEQ LQKKLQEALT SRKAILKKAQ
EKERHLREEL KQQKDDYNRL QEQFDEQSKE NENIGDQLRQ LQIQVRESID GKLPSTDQQE
SCSSTPGLEE PLFKATEQHH TQPVLESNLC PDWPSHSEDA SALQGGTSVA QIKAQLKEIE
AEKVELELKV SSTTSELTKK SEEVFQLQEQ INKQGLEIES LKTVSHEAEV HAESLQQKLE
SSQLQIAGLE HLRELQPKLD ELQKLISKKE EDVSYLSGQL SEKEAALTKI QTEIIEQEDL
IKALHTQLEM QAKEHDERIK QLQVELCEMK QKPEEIGEES RAKQQIQRKL QAALISRKEA
LKENKSLQEE LSLARGTIER LTKSLADVES QVSAQNKEKD TVLGRLALLQ EERDKLITEM
DRSLLENQSL SSSCESLKLA LEGLTEDKEK LVKEIESLKS SKIAESTEWQ EKHKELQKEY
EILLQSYENV SNEAERIQHV VEAVRQEKQE LYGKLRSTEA NKKETEKQLQ EAEQEMEEMK
EKMRKFAKSK QQKILELEEE NDRLRAEVHP AGDTAKECME TLLSSNASMK EELERVKMEY
ETLSKKFQSL MSEKDSLSEE VQDLKHQIED NVSKQANLEA TEKHDNQTNV TEEGTQSIPG
ETEEQDSLSM STRPTCSESV PSAKSANPAV SKDFSSHDEI NNYLQQIDQL KERIAGLEEE
KQKNKEFSQT LENEKNTLLS QISTKDGELK MLQEEVTKMN LLNQQIQEEL SRVTKLKETA
EEEKDDLEER LMNQLAELNG SIGNYCQDVT DAQIKNELLE SEMKNLKKCV SELEEEKQQL
VKEKTKVESE IRKEYLEKIQ GAQKEPGNKS HAKELQELLK EKQQEVKQLQ KDCIRYQEKI
SALERTVKAL EFVQTESQKD LEITKENLAQ AVEHRKKAQA ELASFKVLLD DTQSEAARVL
ADNLKLKKEL QSNKESVKSQ MKQKDEDLER RLEQAEEKHL KEKKNMQEKL DALRREKVHL
EETIGEIQVT LNKKDKEVQQ LQENLDSTVT QLAAFTKSMS SLQDDRDRVI DEAKKWERKF
SDAIQSKEEE IRLKEDNCSV LKDQLRQMSI HMEELKINIS RLEHDKQIWE SKAQTEVQLQ
QKVCDTLQGE NKELLSQLEE TRHLYHSSQN ELAKLESELK SLKDQLTDLS NSLEKCKEQK
GNLEGIIRQQ EADIQNSKFS YEQLETDLQA SRELTSRLHE EINMKEQKII SLLSGKEEAI
QVAIAELRQQ HDKEIKELEN LLSQEEEENI VLEEENKKAV DKTNQLMETL KTIKKENIQQ
KAQLDSFVKS MSSLQNDRDR IVGDYQQLEE RHLSIILEKD QLIQEAAAEN NKLKEEIRGL
RSHMDDLNSE NAKLDAELIQ YREDLNQVIT IKDSQQKQLL EVQLQQNKEL ENKYAKLEEK
LKESEEANED LRRSFNALQE EKQDLSKEIE SLKVSISQLT RQVTALQEEG TLGLYHAQLK
VKEEEVHRLS ALFSSSQKRI AELEEELVCV QKEAAKKVGE IEDKLKKELK HLHHDAGIMR
NETETAEERV AELARDLVEM EQKLLMVTKE NKGLTAQIQS FGRSMSSLQN SRDHANEELD
ELKRKYDASL KELAQLKEQG LLNRERDALL SETAFSMNST EENSLSHLEK LNQQLLSKDE
QLLHLSSQLE DSYNQVQSFS KAMASLQNER DHLWNELEKF RKSEEGKQRS AAQPSTSPAE
VQSLKKAMSS LQNDRDRLLK ELKNLQQQYL QINQEITELH PLKAQLQEYQ DKTKAFQIMQ
EELRQENLSW QHELHQLRME KSSWEIHERR MKEQYLMAIS DKDQQLSHLQ NLIRELRSSS
SQTQPLKVQY QRQASPETSA SPDGSQNLVY ETELLRTQLN DSLKEIHQKE LRIQQLNSNF
SQLLEEKNTL SIQLCDTSQS LRENQQHYGD LLNHCAVLEK QVQELQAVSK EKGPLNIDVA
PGAPQEKNGV HRKSDPEELR EPQQSFSEAQ QQLCNTRQEV NELRKLLEEE RDQRVAAENA
LSVAEEQIRR LEHSEWDSSR TPIIGSCGTQ EQALLIDLTS NSCRRTRSGV GWKRVLRSLC
HSRTRVPLLA AIYFLMIHVL LILCFTGHL*
speed 1.00 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