Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999987669 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:86287867G>AN/A show variant in all transcripts   IGV
HGNC symbol AKAP13
Ensembl transcript ID ENST00000361243
Genbank transcript ID NM_006738
UniProt peptide Q12802
alteration type single base exchange
alteration region CDS
DNA changes c.8413G>A
cDNA.8494G>A
g.364066G>A
AA changes A2805T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2805
frameshift no
known variant Reference ID: rs2614668
databasehomozygous (A/A)heterozygousallele carriers
1000G111722833
ExAC14261281514241
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2530.025
0.3930.015
(flanking)0.7590.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc decreased364057wt: 0.82 / mu: 0.73wt: TCTTGGTTTTCACATTTCCAGATGGTCCCGCGTCAGAAGTA
mu: TCTTGGTTTTCACATTTCCAGATGGTCCCACGTCAGAAGTA		 ccag|ATGG
Donor marginally increased364069wt: 0.9266 / mu: 0.9406 (marginal change - not scored)wt: CCGCGTCAGAAGTAT
mu: CCACGTCAGAAGTAT		 GCGT|caga
Donor increased364071wt: 0.28 / mu: 0.41wt: GCGTCAGAAGTATCA
mu: ACGTCAGAAGTATCA		 GTCA|gaag
Donor gained3640620.74mu: GATGGTCCCACGTCA TGGT|ccca
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2805KTSRSQPGDGPASEVSAEGEEIFC
mutated  not conserved    2805KTSRSQPGDGPTSEVSAEGEEIF
Ptroglodytes  all identical  ENSPTRG00000007414  2801KTSRSQPGDGPASEVSAEGEEIF
Mmulatta  not conserved  ENSMMUG00000011251  2717KTSRSQPGDGPTSEVSAEGEEIF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000066406  2782KGSRTQPGDGPASEVPAEGEEIF
Ggallus  all conserved  ENSGALG00000006840  1198RGHRSQESDSHSSEAPPEGEEIF
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000079358  685SKSQT-PQDAASHLLPLTEP
Dmelanogaster  no alignment  FBgn0032796  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
19192813REGIONInteraction with ESR1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8454 / 8454
position (AA) of stopcodon in wt / mu AA sequence 2818 / 2818
position of stopcodon in wt / mu cDNA 8535 / 8535
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 82 / 82
chromosome 15
strand 1
last intron/exon boundary 8486
theoretical NMD boundary in CDS 8354
length of CDS 8454
coding sequence (CDS) position 8413
cDNA position
(for ins/del: last normal base / first normal base)		 8494
gDNA position
(for ins/del: last normal base / first normal base)		 364066
chromosomal position
(for ins/del: last normal base / first normal base)		 86287867
original gDNA sequence snippet TCACATTTCCAGATGGTCCCGCGTCAGAAGTATCAGCAGAG
altered gDNA sequence snippet TCACATTTCCAGATGGTCCCACGTCAGAAGTATCAGCAGAG
original cDNA sequence snippet CTCAGCCCGGTGATGGTCCCGCGTCAGAAGTATCAGCAGAG
altered cDNA sequence snippet CTCAGCCCGGTGATGGTCCCACGTCAGAAGTATCAGCAGAG
wildtype AA sequence MKLNPQQAPL YGDCVVTVLL AEEDKAEDDV VFYLVFLGST LRHCTSTRKV SSDTLETIAP
GHDCCETVKV QLCASKEGLP VFVVAEEDFH FVQDEAYDAA QFLATSAGNQ QALNFTRFLD
QSGPPSGDVN SLDKKLVLAF RHLKLPTEWN VLGTDQSLHD AGPRETLMHF AVRLGLLRLT
WFLLQKPGGR GALSIHNQEG ATPVSLALER GYHKLHQLLT EENAGEPDSW SSLSYEIPYG
DCSVRHHREL DIYTLTSESD SHHEHPFPGD GCTGPIFKLM NIQQQLMKTN LKQMDSLMPL
MMTAQDPSSA PETDGQFLPC APEPTDPQRL SSSEETESTQ CCPGSPVAQT ESPCDLSSIV
EEENTDRSCR KKNKGVERKG EEVEPAPIVD SGTVSDQDSC LQSLPDCGVK GTEGLSSCGN
RNEETGTKSS GMPTDQESLS SGDAVLQRDL VMEPGTAQYS SGGELGGIST TNVSTPDTAG
EMEHGLMNPD ATVWKNVLQG GESTKERFEN SNIGTAGASD VHVTSKPVDK ISVPNCAPAA
SSLDGNKPAE SSLAFSNEET STEKTAETET SRSREESADA PVDQNSVVIP AAAKDKISDG
LEPYTLLAAG IGEAMSPSDL ALLGLEEDVM PHQNSETNSS HAQSQKGKSS PICSTTGDDK
LCADSACQQN TVTSSGDLVA KLCDNIVSES ESTTARQPSS QDPPDASHCE DPQAHTVTSD
PVRDTQERAD FCPFKVVDNK GQRKDVKLDK PLTNMLEVVS HPHPVVPKME KELVPDQAVI
SDSTFSLANS PGSESVTKDD ALSFVPSQKE KGTATPELHT ATDYRDGPDG NSNEPDTRPL
EDRAVGLSTS STAAELQHGM GNTSLTGLGG EHEGPAPPAI PEALNIKGNT DSSLQSVGKA
TLALDSVLTE EGKLLVVSES SAAQEQDKDK AVTCSSIKEN ALSSGTLQEE QRTPPPGQDT
QQFHEKSISA DCAKDKALQL SNSPGASSAF LKAETEHNKE VAPQVSLLTQ GGAAQSLVPP
GASLATESRQ EALGAEHNSS ALLPCLLPDG SDGSDALNCS QPSPLDVGVK NTQSQGKTSA
CEVSGDVTVD VTGVNALQGM AEPRRENISH NTQDILIPNV LLSQEKNAVL GLPVALQDKA
VTDPQGVGTP EMIPLDWEKG KLEGADHSCT MGDAEEAQID DEAHPVLLQP VAKELPTDME
LSAHDDGAPA GVREVMRAPP SGRERSTPSL PCMVSAQDAP LPKGADLIEE AASRIVDAVI
EQVKAAGALL TEGEACHMSL SSPELGPLTK GLESAFTEKV STFPPGESLP MGSTPEEATG
SLAGCFAGRE EPEKIILPVQ GPEPAAEMPD VKAEDEVDFR ASSISEEVAV GSIAATLKMK
QGPMTQAINR ENWCTIEPCP DAASLLASKQ SPECENFLDV GLGRECTSKQ GVLKRESGSD
SDLFHSPSDD MDSIIFPKPE EEHLACDITG SSSSTDDTAS LDRHSSHGSD VSLSQILKPN
RSRDRQSLDG FYSHGMGAEG RESESEPADP GDVEEEEMDS ITEVPANCSV LRSSMRSLSP
FRRHSWGPGK NAASDAEMNH RSMSWCPSGV QYSAGLSADF NYRSFSLEGL TGGAGVGNKP
SSSLEVSSAN AEELRHPFSG EERVDSLVSL SEEDLESDQR EHRMFDQQIC HRSKQQGFNY
CTSAISSPLT KSISLMTISH PGLDNSRPFH STFHNTSANL TESITEENYN FLPHSPSKKD
SEWKSGTKVS RTFSYIKNKM SSSKKSKEKE KEKDKIKEKE KDSKDKEKDK KTVNGHTFSS
IPVVGPISCS QCMKPFTNKD AYTCANCSAF VHKGCRESLA SCAKVKMKQP KGSLQAHDTS
SLPTVIMRNK PSQPKERPRS AVLLVDETAT TPIFANRRSQ QSVSLSKSVS IQNITGVGND
ENMSNTWKFL SHSTDSLNKI SKVNESTESL TDEGVGTDMN EGQLLGDFEI ESKQLEAESW
SRIIDSKFLK QQKKDVVKRQ EVIYELMQTE FHHVRTLKIM SGVYSQGMMA DLLFEQQMVE
KLFPCLDELI SIHSQFFQRI LERKKESLVD KSEKNFLIKR IGDVLVNQFS GENAERLKKT
YGKFCGQHNQ SVNYFKDLYA KDKRFQAFVK KKMSSSVVRR LGIPECILLV TQRITKYPVL
FQRILQCTKD NEVEQEDLAQ SLSLVKDVIG AVDSKVASYE KKVRLNEIYT KTDSKSIMRM
KSGQMFAKED LKRKKLVRDG SVFLKNAAGR LKEVQAVLLT DILVFLQEKD QKYIFASLDQ
KSTVISLKKL IVREVAHEEK GLFLISMGMT DPEMVEVHAS SKEERNSWIQ IIQDTINTLN
RDEDEGIPSE NEEEKKMLDT RARELKEQLH QKDQKILLLL EEKEMIFRDM AECSTPLPED
CSPTHSPRVL FRSNTEEALK GGPLMKSAIN EVEILQGLVS GNLGGTLGPT VSSPIEQDVV
GPVSLPRRAE TFGGFDSHQM NASKGGEKEE GDDGQDLRRT ESDSGLKKGG NANLVFMLKR
NSEQVVQSVV HLYELLSALQ GVVLQQDSYI EDQKLVLSER ALTRSLSRPS SLIEQEKQRS
LEKQRQDLAN LQKQQAQYLE EKRRREREWE ARERELRERE ALLAQREEEV QQGQQDLEKE
REELQQKKGT YQYDLERLRA AQKQLEREQE QLRREAERLS QRQTERDLCQ VSHPHTKLMR
IPSFFPSPEE PPSPSAPSIA KSGSLDSELS VSPKRNSISR THKDKGPFHI LSSTSQTNKG
PEGQSQAPAS TSASTRLFGL TKPKEKKEKK KKNKTSRSQP GDGPASEVSA EGEEIFC*
mutated AA sequence MKLNPQQAPL YGDCVVTVLL AEEDKAEDDV VFYLVFLGST LRHCTSTRKV SSDTLETIAP
GHDCCETVKV QLCASKEGLP VFVVAEEDFH FVQDEAYDAA QFLATSAGNQ QALNFTRFLD
QSGPPSGDVN SLDKKLVLAF RHLKLPTEWN VLGTDQSLHD AGPRETLMHF AVRLGLLRLT
WFLLQKPGGR GALSIHNQEG ATPVSLALER GYHKLHQLLT EENAGEPDSW SSLSYEIPYG
DCSVRHHREL DIYTLTSESD SHHEHPFPGD GCTGPIFKLM NIQQQLMKTN LKQMDSLMPL
MMTAQDPSSA PETDGQFLPC APEPTDPQRL SSSEETESTQ CCPGSPVAQT ESPCDLSSIV
EEENTDRSCR KKNKGVERKG EEVEPAPIVD SGTVSDQDSC LQSLPDCGVK GTEGLSSCGN
RNEETGTKSS GMPTDQESLS SGDAVLQRDL VMEPGTAQYS SGGELGGIST TNVSTPDTAG
EMEHGLMNPD ATVWKNVLQG GESTKERFEN SNIGTAGASD VHVTSKPVDK ISVPNCAPAA
SSLDGNKPAE SSLAFSNEET STEKTAETET SRSREESADA PVDQNSVVIP AAAKDKISDG
LEPYTLLAAG IGEAMSPSDL ALLGLEEDVM PHQNSETNSS HAQSQKGKSS PICSTTGDDK
LCADSACQQN TVTSSGDLVA KLCDNIVSES ESTTARQPSS QDPPDASHCE DPQAHTVTSD
PVRDTQERAD FCPFKVVDNK GQRKDVKLDK PLTNMLEVVS HPHPVVPKME KELVPDQAVI
SDSTFSLANS PGSESVTKDD ALSFVPSQKE KGTATPELHT ATDYRDGPDG NSNEPDTRPL
EDRAVGLSTS STAAELQHGM GNTSLTGLGG EHEGPAPPAI PEALNIKGNT DSSLQSVGKA
TLALDSVLTE EGKLLVVSES SAAQEQDKDK AVTCSSIKEN ALSSGTLQEE QRTPPPGQDT
QQFHEKSISA DCAKDKALQL SNSPGASSAF LKAETEHNKE VAPQVSLLTQ GGAAQSLVPP
GASLATESRQ EALGAEHNSS ALLPCLLPDG SDGSDALNCS QPSPLDVGVK NTQSQGKTSA
CEVSGDVTVD VTGVNALQGM AEPRRENISH NTQDILIPNV LLSQEKNAVL GLPVALQDKA
VTDPQGVGTP EMIPLDWEKG KLEGADHSCT MGDAEEAQID DEAHPVLLQP VAKELPTDME
LSAHDDGAPA GVREVMRAPP SGRERSTPSL PCMVSAQDAP LPKGADLIEE AASRIVDAVI
EQVKAAGALL TEGEACHMSL SSPELGPLTK GLESAFTEKV STFPPGESLP MGSTPEEATG
SLAGCFAGRE EPEKIILPVQ GPEPAAEMPD VKAEDEVDFR ASSISEEVAV GSIAATLKMK
QGPMTQAINR ENWCTIEPCP DAASLLASKQ SPECENFLDV GLGRECTSKQ GVLKRESGSD
SDLFHSPSDD MDSIIFPKPE EEHLACDITG SSSSTDDTAS LDRHSSHGSD VSLSQILKPN
RSRDRQSLDG FYSHGMGAEG RESESEPADP GDVEEEEMDS ITEVPANCSV LRSSMRSLSP
FRRHSWGPGK NAASDAEMNH RSMSWCPSGV QYSAGLSADF NYRSFSLEGL TGGAGVGNKP
SSSLEVSSAN AEELRHPFSG EERVDSLVSL SEEDLESDQR EHRMFDQQIC HRSKQQGFNY
CTSAISSPLT KSISLMTISH PGLDNSRPFH STFHNTSANL TESITEENYN FLPHSPSKKD
SEWKSGTKVS RTFSYIKNKM SSSKKSKEKE KEKDKIKEKE KDSKDKEKDK KTVNGHTFSS
IPVVGPISCS QCMKPFTNKD AYTCANCSAF VHKGCRESLA SCAKVKMKQP KGSLQAHDTS
SLPTVIMRNK PSQPKERPRS AVLLVDETAT TPIFANRRSQ QSVSLSKSVS IQNITGVGND
ENMSNTWKFL SHSTDSLNKI SKVNESTESL TDEGVGTDMN EGQLLGDFEI ESKQLEAESW
SRIIDSKFLK QQKKDVVKRQ EVIYELMQTE FHHVRTLKIM SGVYSQGMMA DLLFEQQMVE
KLFPCLDELI SIHSQFFQRI LERKKESLVD KSEKNFLIKR IGDVLVNQFS GENAERLKKT
YGKFCGQHNQ SVNYFKDLYA KDKRFQAFVK KKMSSSVVRR LGIPECILLV TQRITKYPVL
FQRILQCTKD NEVEQEDLAQ SLSLVKDVIG AVDSKVASYE KKVRLNEIYT KTDSKSIMRM
KSGQMFAKED LKRKKLVRDG SVFLKNAAGR LKEVQAVLLT DILVFLQEKD QKYIFASLDQ
KSTVISLKKL IVREVAHEEK GLFLISMGMT DPEMVEVHAS SKEERNSWIQ IIQDTINTLN
RDEDEGIPSE NEEEKKMLDT RARELKEQLH QKDQKILLLL EEKEMIFRDM AECSTPLPED
CSPTHSPRVL FRSNTEEALK GGPLMKSAIN EVEILQGLVS GNLGGTLGPT VSSPIEQDVV
GPVSLPRRAE TFGGFDSHQM NASKGGEKEE GDDGQDLRRT ESDSGLKKGG NANLVFMLKR
NSEQVVQSVV HLYELLSALQ GVVLQQDSYI EDQKLVLSER ALTRSLSRPS SLIEQEKQRS
LEKQRQDLAN LQKQQAQYLE EKRRREREWE ARERELRERE ALLAQREEEV QQGQQDLEKE
REELQQKKGT YQYDLERLRA AQKQLEREQE QLRREAERLS QRQTERDLCQ VSHPHTKLMR
IPSFFPSPEE PPSPSAPSIA KSGSLDSELS VSPKRNSISR THKDKGPFHI LSSTSQTNKG
PEGQSQAPAS TSASTRLFGL TKPKEKKEKK KKNKTSRSQP GDGPTSEVSA EGEEIFC*
speed 1.35 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