Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999465507781 (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) chr6:151670172A>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.331A>C
cDNA.428A>C
g.109039A>C
AA changes K111Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 111
frameshift no
known variant Reference ID: rs3734799
databasehomozygous (C/C)heterozygousallele carriers
1000G79511341929
ExAC28275-237834492
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2330.727
1.0090.725
(flanking)0.320.708
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 327
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      111EGEGAAGAGDHKDPSLGAGEAASK
mutated  all conserved    111EGEGAAGAGDHQDPSLGAGEA
Ptroglodytes  all conserved  ENSPTRG00000018711  215EGEEAAGAGDHQDSSLGAGEAA
Mmulatta  all conserved  ENSMMUG00000023265  216EGEGAAGAGDHQDPNLGAGEAA
Fcatus  all conserved  ENSFCAG00000010203  202EGEGGGAPDGAGDHQEPSQETGEATA
Mmusculus  all conserved  ENSMUSG00000038587  198EGEGAEASVGAGDHQEPGVETV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000055678  108ES-GADAATEEKKEE
Dmelanogaster  all identical  FBgn0261836  6008KQKAKK---EKKTKVVEAPEPIV
Celegans  not conserved  W06A7.3  240-----ANAGEGARDFIERVKLTS
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 331
cDNA position
(for ins/del: last normal base / first normal base)		 428
gDNA position
(for ins/del: last normal base / first normal base)		 109039
chromosomal position
(for ins/del: last normal base / first normal base)		 151670172
original gDNA sequence snippet CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT
altered gDNA sequence snippet CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT
original cDNA sequence snippet CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT
altered cDNA sequence snippet CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT
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 QDPSLGAGEA
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*
speed 1.14 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