Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999975061 (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) chr6:151674326A>CN/A show variant in all transcripts   IGV
HGNC symbol AKAP12
Ensembl transcript ID ENST00000359755
Genbank transcript ID N/A
UniProt peptide Q02952
alteration type single base exchange
alteration region CDS
DNA changes c.4485A>C
cDNA.4582A>C
g.113193A>C
AA changes E1495D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1495
frameshift no
known variant Reference ID: rs3823310
databasehomozygous (C/C)heterozygousallele carriers
1000G55410901644
ExAC21222-967711545
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7230.002
-0.7240
(flanking)0.0660
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 increased113184wt: 0.9954 / mu: 0.9957 (marginal change - not scored)wt: AAAGAAGGAGAGGAA
mu: AAAGAAGGAGAGGAC		 AGAA|ggag
distance from splice site 562
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1495DAGQETEKEGEEPQASAQDETPIT
mutated  all conserved    1495DAGQETEKEGEDPQASA
Ptroglodytes  all identical  ENSPTRG00000018711  1597DAGQETEKEGEEPQASA
Mmulatta  all identical  ENSMMUG00000023265  1600DAGQETEKEGEEPQAS
Fcatus  all identical  ENSFCAG00000010203  1573EEKERELQASAQDETHT
Mmusculus  all conserved  ENSMUSG00000038587  1559GAQQMLDKDESDLQVSPQDGTLS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000055678  1356DVHQETE--------VTKSEVEL
Dmelanogaster  not conserved  FBgn0261836  6827APSQPLSWSSIVSQTTEVTTNV
Celegans  all conserved  W06A7.3  1707DGDENPDANADQERTSEHNEL-I
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5034 / 5034
position (AA) of stopcodon in wt / mu AA sequence 1678 / 1678
position of stopcodon in wt / mu cDNA 5131 / 5131
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 98 / 98
chromosome 6
strand 1
last intron/exon boundary 5144
theoretical NMD boundary in CDS 4996
length of CDS 5034
coding sequence (CDS) position 4485
cDNA position
(for ins/del: last normal base / first normal base)		 4582
gDNA position
(for ins/del: last normal base / first normal base)		 113193
chromosomal position
(for ins/del: last normal base / first normal base)		 151674326
original gDNA sequence snippet ACGGAGAAAGAAGGAGAGGAACCTCAGGCCTCTGCACAGGA
altered gDNA sequence snippet ACGGAGAAAGAAGGAGAGGACCCTCAGGCCTCTGCACAGGA
original cDNA sequence snippet ACGGAGAAAGAAGGAGAGGAACCTCAGGCCTCTGCACAGGA
altered cDNA sequence snippet ACGGAGAAAGAAGGAGAGGACCCTCAGGCCTCTGCACAGGA
wildtype AA sequence MVGQRDSEDV SKRDSDKEMA TKSAVVHDIT DDGQEETPEI IEQIPSSESN LEELTQPTES
QANDIGFKKV FKFVGFKFTV KKDKTEKPDT VQLLTVKKDE GEGAAGAGDH KDPSLGAGEA
ASKESEPKQS TEKPEETLKR EQSHAEISPP AESGQAVEEC KEEGEEKQEK EPSKSAESPT
SPVTSETGST FKKFFTQGWA GWRKKTSFRK PKEDEVEASE KKKEQEPEKV DTEEDGKAEV
ASEKLTASEQ AHPQEPAESA HEPRLSAEYE KVELPSEEQV SGSQGPSEEK PAPLATEVFD
EKIEVHQEEV VAEVHVSTVE ERTEEQKTEV EETAGSVPAE ELVEMDAEPQ EAEPAKELVK
LKETCVSGED PTQGADLSPD EKVLSKPPEG VVSEVEMLSS QERMKVQGSP LKKLFTSTGL
KKLSGKKQKG KRGGGDEESG EHTQVPADSP DSQEEQKGES SASSPEEPEE ITCLEKGLAE
VQQDGEAEEG ATSDGEKKRE GVTPWASFKK MVTPKKRVRR PSESDKEDEL DKVKSATLSS
TESTASEMQE EMKGSVEEPK PEEPKRKVDT SVSWEALICV GSSKKRARRG SSSDEEGGPK
AMGGDHQKAD EAGKDKETGT DGILAGSQEH DPGQGSSSPE QAGSPTEGEG VSTWESFKRL
VTPRKKSKSK LEEKSEDSIA GSGVEHSTPD TEPGKEESWV SIKKFIPGRR KKRPDGKQEQ
APVEDAGPTG ANEDDSDVPA VVPLSEYDAV EREKMEAQQA QKSAEQPEQK AATEVSKELS
ESQVHMMAAA VADGTRAATI IEERSPSWIS ASVTEPLEQV EAEAALLTEE VLEREVIAEE
EPPTVTEPLP ENREARGDTV VSEAELTPEA VTAAETAGPL GAEEGTEASA AEETTEMVSA
VSQLTDSPDT TEEATPVQEV EGGVPDIEEQ ERRTQEVLQA VAEKVKEESQ LPGTGGPEDV
LQPVQRAEAE RPEEQAEASG LKKETDVVLK VDAQEAKTEP FTQGKVVGQT TPESFEKAPQ
VTESIESSEL VTTCQAETLA GVKSQEMVME QAIPPDSVET PTDSETDGST PVADFDAPGT
TQKDEIVEIH EENEVASGTQ SGGTEAEAVP AQKERPPAPS SFVFQEETKE QSKMEDTLEH
TDKEVSVETV SILSKTEGTQ EADQYADEKT KDVPFFEGLE GSIDTGITVS REKVTEVALK
GEGTEEAECK KDDALELQSH AKSPPSPVER EMVVQVEREK TEAEPTHVNE EKLEHETAVT
VSEEVSKQLL QTVNVPIIDG AKEVSSLEGS PPPCLGQEEA VCTKIQVQSS EASFTLTAAA
EEEKVLGETA NILETGETLE PAGAHLVLEE KSSEKNEDFA AHPGEDAVPT GPDCQAKSTP
VIVSATTKKG LSSDLEGEKT TSLKWKSDEV DEQVACQEVK VSVAIEDLEP ENGILELETK
SSKLVQNIIQ TAVDQFVRTE ETATEMLTSE LQTQAHVIKA DSQDAGQETE KEGEEPQASA
QDETPITSAK EESESTAVGQ AHSDISKDMS EASEKTMTVE VEGSTVNDQQ LEEVVLPSEE
EGGGAGTKSV PEDDGHALLA ERIEKSLVEP KEDEKGDDVD DPENQNSALA DTDASGGLTK
ESPDTNGPKQ KEKEDAQEVE LQEGKVHSES DKAITPQAQE ELQKQERESA KSELTES*
mutated AA sequence MVGQRDSEDV SKRDSDKEMA TKSAVVHDIT DDGQEETPEI IEQIPSSESN LEELTQPTES
QANDIGFKKV FKFVGFKFTV KKDKTEKPDT VQLLTVKKDE GEGAAGAGDH KDPSLGAGEA
ASKESEPKQS TEKPEETLKR EQSHAEISPP AESGQAVEEC KEEGEEKQEK EPSKSAESPT
SPVTSETGST FKKFFTQGWA GWRKKTSFRK PKEDEVEASE KKKEQEPEKV DTEEDGKAEV
ASEKLTASEQ AHPQEPAESA HEPRLSAEYE KVELPSEEQV SGSQGPSEEK PAPLATEVFD
EKIEVHQEEV VAEVHVSTVE ERTEEQKTEV EETAGSVPAE ELVEMDAEPQ EAEPAKELVK
LKETCVSGED PTQGADLSPD EKVLSKPPEG VVSEVEMLSS QERMKVQGSP LKKLFTSTGL
KKLSGKKQKG KRGGGDEESG EHTQVPADSP DSQEEQKGES SASSPEEPEE ITCLEKGLAE
VQQDGEAEEG ATSDGEKKRE GVTPWASFKK MVTPKKRVRR PSESDKEDEL DKVKSATLSS
TESTASEMQE EMKGSVEEPK PEEPKRKVDT SVSWEALICV GSSKKRARRG SSSDEEGGPK
AMGGDHQKAD EAGKDKETGT DGILAGSQEH DPGQGSSSPE QAGSPTEGEG VSTWESFKRL
VTPRKKSKSK LEEKSEDSIA GSGVEHSTPD TEPGKEESWV SIKKFIPGRR KKRPDGKQEQ
APVEDAGPTG ANEDDSDVPA VVPLSEYDAV EREKMEAQQA QKSAEQPEQK AATEVSKELS
ESQVHMMAAA VADGTRAATI IEERSPSWIS ASVTEPLEQV EAEAALLTEE VLEREVIAEE
EPPTVTEPLP ENREARGDTV VSEAELTPEA VTAAETAGPL GAEEGTEASA AEETTEMVSA
VSQLTDSPDT TEEATPVQEV EGGVPDIEEQ ERRTQEVLQA VAEKVKEESQ LPGTGGPEDV
LQPVQRAEAE RPEEQAEASG LKKETDVVLK VDAQEAKTEP FTQGKVVGQT TPESFEKAPQ
VTESIESSEL VTTCQAETLA GVKSQEMVME QAIPPDSVET PTDSETDGST PVADFDAPGT
TQKDEIVEIH EENEVASGTQ SGGTEAEAVP AQKERPPAPS SFVFQEETKE QSKMEDTLEH
TDKEVSVETV SILSKTEGTQ EADQYADEKT KDVPFFEGLE GSIDTGITVS REKVTEVALK
GEGTEEAECK KDDALELQSH AKSPPSPVER EMVVQVEREK TEAEPTHVNE EKLEHETAVT
VSEEVSKQLL QTVNVPIIDG AKEVSSLEGS PPPCLGQEEA VCTKIQVQSS EASFTLTAAA
EEEKVLGETA NILETGETLE PAGAHLVLEE KSSEKNEDFA AHPGEDAVPT GPDCQAKSTP
VIVSATTKKG LSSDLEGEKT TSLKWKSDEV DEQVACQEVK VSVAIEDLEP ENGILELETK
SSKLVQNIIQ TAVDQFVRTE ETATEMLTSE LQTQAHVIKA DSQDAGQETE KEGEDPQASA
QDETPITSAK EESESTAVGQ AHSDISKDMS EASEKTMTVE VEGSTVNDQQ LEEVVLPSEE
EGGGAGTKSV PEDDGHALLA ERIEKSLVEP KEDEKGDDVD DPENQNSALA DTDASGGLTK
ESPDTNGPKQ KEKEDAQEVE LQEGKVHSES DKAITPQAQE ELQKQERESA KSELTES*
speed 0.39 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