Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000356239
Querying Taster for transcript #2: ENST00000359028
Querying Taster for transcript #3: ENST00000358100
MT speed 1.7 s - this script 3.093381 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AKAP9polymorphism5.71119818104648e-11simple_aaeaffectedS1570Lsingle base exchangers121908566show file
AKAP9polymorphism5.71119818104648e-11simple_aaeaffectedS1582Lsingle base exchangers121908566show file
AKAP9polymorphism5.71119818104648e-11simple_aaeaffectedS1582Lsingle base exchangers121908566show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999942888      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM078295)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:91670004C>TN/A show variant in all transcripts   IGV
HGNC symbol AKAP9
Ensembl transcript ID ENST00000356239
Genbank transcript ID NM_005751
UniProt peptide Q99996
alteration type single base exchange
alteration region CDS
DNA changes c.4709C>T
cDNA.4942C>T
g.99824C>T
AA changes S1570L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1570
frameshift no
known variant Reference ID: rs121908566
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation at this position, please check HGMD for details (HGMD ID CM078295)

known disease mutation at this position, please check HGMD for details (HGMD ID CM078295)
known disease mutation at this position, please check HGMD for details (HGMD ID CM078295)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.030.067
0.3590.065
(flanking)0.1970.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased99820wt: 0.25 / mu: 0.66wt: ATGAGATTTCAGTGT
mu: ATGAGATTTTAGTGT		 GAGA|tttc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1570FIVRQSIHDEISVSSMDASRQLML
mutated  not conserved    1570VRQSIHDEILVSSMDASRQLM
Ptroglodytes  all identical  ENSPTRG00000019389  1571IVRQSIHDEISVSSMDASRQLM
Mmulatta  all identical  ENSMMUG00000002364  1558FIVRQSIHDEISVS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000040407  1514FIVRKSMHDEVLVSSMDTSRQLI
Ggallus  all conserved  ENSGALG00000009348  1579HTAEETLCNNVVAASDMETSSQLL
Trubripes  not conserved  ENSTRUG00000013132  1531-LVRMQIIHELRRTVI
Drerio  no alignment  ENSDARG00000077668  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003440  1512YILQKDYNRMLAMGAENAKLR-P
protein features
start (aa)end (aa)featuredetails 
15851659COILEDPotential.might get lost (downstream of altered splice site)
16261626CONFLICTR -> P (in Ref. 1; AAB86384 and 2; CAB40713).might get lost (downstream of altered splice site)
17031703CONFLICTN -> T (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
17071707CONFLICTV -> G (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
18021803CONFLICTMissing (in Ref. 7; AAD22767).might get lost (downstream of altered splice site)
18431843CONFLICTA -> P (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
18462772COMPBIASGlu-rich.might get lost (downstream of altered splice site)
18572455COILEDPotential.might get lost (downstream of altered splice site)
19561956CONFLICTI -> V (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
20272027CONFLICTV -> D (in Ref. 7; AAD22767).might get lost (downstream of altered splice site)
21572158CONFLICTEI -> HE (in Ref. 7; AAD39719).might get lost (downstream of altered splice site)
21692169CONFLICTE -> V (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
25142514CONFLICTL -> R (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
25442561COILEDPotential.might get lost (downstream of altered splice site)
25542567REGIONPKA-RII subunit binding domain.might get lost (downstream of altered splice site)
26032776COILEDPotential.might get lost (downstream of altered splice site)
28512851CONFLICTI -> N (in Ref. 8; BAA34523).might get lost (downstream of altered splice site)
29572957CONFLICTE -> D (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
30653092COILEDPotential.might get lost (downstream of altered splice site)
30873087CONFLICTQ -> H (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
31243470COILEDPotential.might get lost (downstream of altered splice site)
32183218CONFLICTQ -> H (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
33073309CONFLICTESE -> QSQ (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
35873689COILEDPotential.might get lost (downstream of altered splice site)
37263730COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
37513751CONFLICTP -> A (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
38333833CONFLICTT -> S (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
38463846MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
38693869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11724 / 11724
position (AA) of stopcodon in wt / mu AA sequence 3908 / 3908
position of stopcodon in wt / mu cDNA 11957 / 11957
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 234 / 234
chromosome 7
strand 1
last intron/exon boundary 11920
theoretical NMD boundary in CDS 11636
length of CDS 11724
coding sequence (CDS) position 4709
cDNA position
(for ins/del: last normal base / first normal base)		 4942
gDNA position
(for ins/del: last normal base / first normal base)		 99824
chromosomal position
(for ins/del: last normal base / first normal base)		 91670004
original gDNA sequence snippet AAAGATTCATGATGAGATTTCAGTGTCAAGCATGGATGCTT
altered gDNA sequence snippet AAAGATTCATGATGAGATTTTAGTGTCAAGCATGGATGCTT
original cDNA sequence snippet GTCTATTCATGATGAGATTTCAGTGTCAAGCATGGATGCTT
altered cDNA sequence snippet GTCTATTCATGATGAGATTTTAGTGTCAAGCATGGATGCTT
wildtype AA sequence MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS
QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG
CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE
MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI
QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF
LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG
ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ
RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN
ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS
REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL
EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG
IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ
INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL
KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN
EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL
HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS
DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL
DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK
ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD
KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS
YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL
NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN
HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV
PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL
EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF
QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI
VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR
EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN
SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK
TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG
SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA
ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA
EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK
EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL
EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF
QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL
LVSADTFQKV EDRKHFGAVE AKPELSLEVQ LQAERDAIDR KEKEITNLEE QLEQFREELE
NKNEEVQQLH MQLEIQKKES TTRLQELEQE NKLFKDDMEK LGLAIKESDA MSTQDQHVLF
GKFAQIIQEK EVEIDQLNEQ VTKLQQQLKI TTDNKVIEEK NELIRDLETQ IECLMSDQEC
VKRNREEEIE QLNEVIEKLQ QELANIGQKT SMNAHSLSEE ADSLKHQLDV VIAEKLALEQ
QVETANEEMT FMKNVLKETN FKMNQLTQEL FSLKRERESV EKIQSIPENS VNVAIDHLSK
DKPELEVVLT EDALKSLENQ TYFKSFEENG KGSIINLETR LLQLESTVSA KDLELTQCYK
QIKDMQEQGQ FETEMLQKKI VNLQKIVEEK VAAALVSQIQ LEAVQEYAKF CQDNQTISSE
PERTNIQNLN QLREDELGSD ISALTLRISE LESQVVEMHT SLILEKEQVE IAEKNVLEKE
KKLLELQKLL EGNEKKQREK EKKRSPQDVE VLKTTTELFH SNEESGFFNE LEALRAESVA
TKAELASYKE KAEKLQEELL VKETNMTSLQ KDLSQVRDHL AEAKEKLSIL EKEDETEVQE
SKKACMFEPL PIKLSKSIAS QTDGTLKISS SNQTPQILVK NAGIQINLQS ECSSEEVTEI
ISQFTEKIEK MQELHAAEIL DMESRHISET ETLKREHYVA VQLLKEECGT LKAVIQCLRS
KEGSSIPELA HSDAYQTREI CSSDSGSDWG QGIYLTHSQG FDIASEGRGE ESESATDSFP
KKIKGLLRAV HNEGMQVLSL TESPYSDGED HSIQQVSEPW LEERKAYINT ISSLKDLITK
MQLQREAEVY DSSQSHESFS DWRGELLLAL QQVFLEERSV LLAAFRTELT ALGTTDAVGL
LNCLEQRIQE QGVEYQAAME CLQKADRRSL LSEIQALHAQ MNGRKITLKR EQESEKPSQE
LLEYNIQQKQ SQMLEMQVEL SSMKDRATEL QEQLSSEKMV VAELKSELAQ TKLELETTLK
AQHKHLKELE AFRLEVKDKT DEVHLLNDTL ASEQKKSREL QWALEKEKAK LGRSEERDKE
ELEDLKFSLE SQKQRNLQLN LLLEQQKQLL NESQQKIESQ RMLYDAQLSE EQGRNLELQV
LLESEKVRIR EMSSTLDRER ELHAQLQSSD GTGQSRPPLP SEDLLKELQK QLEEKHSRIV
ELLNETEKYK LDSLQTRQQM EKDRQVHRKT LQTEQEANTE GQKKMHELQS KVEDLQRQLE
EKRQQVYKLD LEGQRLQGIM QEFQKQELER EEKRESRRIL YQNLNEPTTW SLTSDRTRNW
VLQQKIEGET KESNYAKLIE MNGGGTGCNH ELEMIRQKLQ CVASKLQVLP QKASERLQFE
TADDEDFIWV QENIDEIILQ LQKLTGQQGE EPSLVSPSTS CGSLTERLLR QNAELTGHIS
QLTEEKNDLR NMVMKLEEQI RWYRQTGAGR DNSSRFSLNG GANIEAIIAS EKEVWNREKL
TLQKSLKRAE AEVYKLKAEL RNDSLLQTLS PDSEHVTLKR IYGKYLRAES FRKALIYQKK
YLLLLLGGFQ ECEDATLALL ARMGGQPAFT DLEVITNRPK GFTRFRSAVR VSIAISRMKF
LVRRWHRVTG SVSININRDG FGLNQGAEKT DSFYHSSGGL ELYGEPRHTT YRSRSDLDYI
RSPLPFQNRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL GTIQSGSTTQ
FHAGMRR*
mutated AA sequence MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS
QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG
CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE
MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI
QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF
LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG
ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ
RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN
ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS
REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL
EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG
IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ
INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL
KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN
EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL
HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS
DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL
DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK
ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD
KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS
YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL
NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN
HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV
PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL
EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF
QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI
VRQSIHDEIL VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR
EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN
SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK
TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG
SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA
ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA
EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK
EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL
EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF
QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL
LVSADTFQKV EDRKHFGAVE AKPELSLEVQ LQAERDAIDR KEKEITNLEE QLEQFREELE
NKNEEVQQLH MQLEIQKKES TTRLQELEQE NKLFKDDMEK LGLAIKESDA MSTQDQHVLF
GKFAQIIQEK EVEIDQLNEQ VTKLQQQLKI TTDNKVIEEK NELIRDLETQ IECLMSDQEC
VKRNREEEIE QLNEVIEKLQ QELANIGQKT SMNAHSLSEE ADSLKHQLDV VIAEKLALEQ
QVETANEEMT FMKNVLKETN FKMNQLTQEL FSLKRERESV EKIQSIPENS VNVAIDHLSK
DKPELEVVLT EDALKSLENQ TYFKSFEENG KGSIINLETR LLQLESTVSA KDLELTQCYK
QIKDMQEQGQ FETEMLQKKI VNLQKIVEEK VAAALVSQIQ LEAVQEYAKF CQDNQTISSE
PERTNIQNLN QLREDELGSD ISALTLRISE LESQVVEMHT SLILEKEQVE IAEKNVLEKE
KKLLELQKLL EGNEKKQREK EKKRSPQDVE VLKTTTELFH SNEESGFFNE LEALRAESVA
TKAELASYKE KAEKLQEELL VKETNMTSLQ KDLSQVRDHL AEAKEKLSIL EKEDETEVQE
SKKACMFEPL PIKLSKSIAS QTDGTLKISS SNQTPQILVK NAGIQINLQS ECSSEEVTEI
ISQFTEKIEK MQELHAAEIL DMESRHISET ETLKREHYVA VQLLKEECGT LKAVIQCLRS
KEGSSIPELA HSDAYQTREI CSSDSGSDWG QGIYLTHSQG FDIASEGRGE ESESATDSFP
KKIKGLLRAV HNEGMQVLSL TESPYSDGED HSIQQVSEPW LEERKAYINT ISSLKDLITK
MQLQREAEVY DSSQSHESFS DWRGELLLAL QQVFLEERSV LLAAFRTELT ALGTTDAVGL
LNCLEQRIQE QGVEYQAAME CLQKADRRSL LSEIQALHAQ MNGRKITLKR EQESEKPSQE
LLEYNIQQKQ SQMLEMQVEL SSMKDRATEL QEQLSSEKMV VAELKSELAQ TKLELETTLK
AQHKHLKELE AFRLEVKDKT DEVHLLNDTL ASEQKKSREL QWALEKEKAK LGRSEERDKE
ELEDLKFSLE SQKQRNLQLN LLLEQQKQLL NESQQKIESQ RMLYDAQLSE EQGRNLELQV
LLESEKVRIR EMSSTLDRER ELHAQLQSSD GTGQSRPPLP SEDLLKELQK QLEEKHSRIV
ELLNETEKYK LDSLQTRQQM EKDRQVHRKT LQTEQEANTE GQKKMHELQS KVEDLQRQLE
EKRQQVYKLD LEGQRLQGIM QEFQKQELER EEKRESRRIL YQNLNEPTTW SLTSDRTRNW
VLQQKIEGET KESNYAKLIE MNGGGTGCNH ELEMIRQKLQ CVASKLQVLP QKASERLQFE
TADDEDFIWV QENIDEIILQ LQKLTGQQGE EPSLVSPSTS CGSLTERLLR QNAELTGHIS
QLTEEKNDLR NMVMKLEEQI RWYRQTGAGR DNSSRFSLNG GANIEAIIAS EKEVWNREKL
TLQKSLKRAE AEVYKLKAEL RNDSLLQTLS PDSEHVTLKR IYGKYLRAES FRKALIYQKK
YLLLLLGGFQ ECEDATLALL ARMGGQPAFT DLEVITNRPK GFTRFRSAVR VSIAISRMKF
LVRRWHRVTG SVSININRDG FGLNQGAEKT DSFYHSSGGL ELYGEPRHTT YRSRSDLDYI
RSPLPFQNRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL GTIQSGSTTQ
FHAGMRR*
speed 0.32 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999942888      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM078295)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:91670004C>TN/A show variant in all transcripts   IGV
HGNC symbol AKAP9
Ensembl transcript ID ENST00000359028
Genbank transcript ID N/A
UniProt peptide Q99996
alteration type single base exchange
alteration region CDS
DNA changes c.4745C>T
cDNA.4970C>T
g.99824C>T
AA changes S1582L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1582
frameshift no
known variant Reference ID: rs121908566
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation at this position, please check HGMD for details (HGMD ID CM078295)

known disease mutation at this position, please check HGMD for details (HGMD ID CM078295)
known disease mutation at this position, please check HGMD for details (HGMD ID CM078295)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.030.067
0.3590.065
(flanking)0.1970.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased99820wt: 0.25 / mu: 0.66wt: ATGAGATTTCAGTGT
mu: ATGAGATTTTAGTGT		 GAGA|tttc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1582FIVRQSIHDEISVSSMDASRQLML
mutated  not conserved    1582FIVRQSIHDEILVSSMDASRQLM
Ptroglodytes  all identical  ENSPTRG00000019389  1571FIVRQSIHDEISVSSMDASRQLM
Mmulatta  all identical  ENSMMUG00000002364  1558FIVRQSIHDEISVS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000040407  1514FIVRKSMHDEVLVSSMDTSRQLI
Ggallus  all conserved  ENSGALG00000009348  1579HTAEETLCNNVVAASDMETSSQLL
Trubripes  not conserved  ENSTRUG00000013132  1531-LVRMQIIHELRRTVI
Drerio  no alignment  ENSDARG00000077668  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003440  1512YILQKDYNRMLAMGAENAKLR-P
protein features
start (aa)end (aa)featuredetails 
15851659COILEDPotential.might get lost (downstream of altered splice site)
16261626CONFLICTR -> P (in Ref. 1; AAB86384 and 2; CAB40713).might get lost (downstream of altered splice site)
17031703CONFLICTN -> T (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
17071707CONFLICTV -> G (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
18021803CONFLICTMissing (in Ref. 7; AAD22767).might get lost (downstream of altered splice site)
18431843CONFLICTA -> P (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
18462772COMPBIASGlu-rich.might get lost (downstream of altered splice site)
18572455COILEDPotential.might get lost (downstream of altered splice site)
19561956CONFLICTI -> V (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
20272027CONFLICTV -> D (in Ref. 7; AAD22767).might get lost (downstream of altered splice site)
21572158CONFLICTEI -> HE (in Ref. 7; AAD39719).might get lost (downstream of altered splice site)
21692169CONFLICTE -> V (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
25142514CONFLICTL -> R (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
25442561COILEDPotential.might get lost (downstream of altered splice site)
25542567REGIONPKA-RII subunit binding domain.might get lost (downstream of altered splice site)
26032776COILEDPotential.might get lost (downstream of altered splice site)
28512851CONFLICTI -> N (in Ref. 8; BAA34523).might get lost (downstream of altered splice site)
29572957CONFLICTE -> D (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
30653092COILEDPotential.might get lost (downstream of altered splice site)
30873087CONFLICTQ -> H (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
31243470COILEDPotential.might get lost (downstream of altered splice site)
32183218CONFLICTQ -> H (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
33073309CONFLICTESE -> QSQ (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
35873689COILEDPotential.might get lost (downstream of altered splice site)
37263730COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
37513751CONFLICTP -> A (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
38333833CONFLICTT -> S (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
38463846MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
38693869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11736 / 11736
position (AA) of stopcodon in wt / mu AA sequence 3912 / 3912
position of stopcodon in wt / mu cDNA 11961 / 11961
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 226 / 226
chromosome 7
strand 1
last intron/exon boundary 11924
theoretical NMD boundary in CDS 11648
length of CDS 11736
coding sequence (CDS) position 4745
cDNA position
(for ins/del: last normal base / first normal base)		 4970
gDNA position
(for ins/del: last normal base / first normal base)		 99824
chromosomal position
(for ins/del: last normal base / first normal base)		 91670004
original gDNA sequence snippet AAAGATTCATGATGAGATTTCAGTGTCAAGCATGGATGCTT
altered gDNA sequence snippet AAAGATTCATGATGAGATTTTAGTGTCAAGCATGGATGCTT
original cDNA sequence snippet GTCTATTCATGATGAGATTTCAGTGTCAAGCATGGATGCTT
altered cDNA sequence snippet GTCTATTCATGATGAGATTTTAGTGTCAAGCATGGATGCTT
wildtype AA sequence MEDEERQKKL EAGKAKIEEL SLAFLVRQLA QFRQRKAQSD GQSPSKKQKK KRKTSSSKHD
VSAHHDLNID QSQCNEMYIN SSQRVESTVI PESTIMRTLH SGEITSHEQG FSVELESEIS
TTADDCSSEV NGCSFVMRTG KPTNLLREEE FGVDDSYSEQ GAQDSPTHLE MMESELAGKQ
HEIEELNREL EEMRVTYGTE GLQQLQEFEA AIKQRDGIIT QLTANLQQAR REKDETMREF
LELTEQSQKL QIQFQQLQAS ETLRNSTHSS TAADLLQAKQ QILTHQQQLE EQDHLLEDYQ
KKKEDFTMQI SFLQEKIKVY EMEQDKKVEN SNKEEIQEKE TIIEELNTKI IEEEKKTLEL
KDKLTTADKL LGELQEQIVQ KNQEIKNMKL ELTNSKQKER QSSEEIKQLM GTVEELQKRN
HKDSQFETDI VQRMEQETQR KLEQLRAELD EMYGQQIVQM KQELIRQHMA QMEEMKTRHK
GEMENALRSY SNITVNEDQI KLMNVAINEL NIKLQDTNSQ KEKLKEELGL ILEEKCALQR
QLEDLVEELS FSREQIQRAR QTIAEQESKL NEAHKSLSTV EDLKAEIVSA SESRKELELK
HEAEVTNYKI KLEMLEKEKN AVLDRMAESQ EAELERLRTQ LLFSHEEELS KLKEDLEIEH
RINIEKLKDN LGIHYKQQID GLQNEMSQKI ETMQFEKDNL ITKQNQLILE ISKLKDLQQS
LVNSKSEEMT LQINELQKEI EILRQEEKEK GTLEQEVQEL QLKTELLEKQ MKEKENDLQE
KFAQLEAENS ILKDEKKTLE DMLKIHTPVS QEERLIFLDS IKSKSKDSVW EKEIEILIEE
NEDLKQQCIQ LNEEIEKQRN TFSFAEKNFE VNYQELQEEY ACLLKVKDDL EDSKNKQELE
YKSKLKALNE ELHLQRINPT TVKMKSSVFD EDKTFVAETL EMGEVVEKDT TELMEKLEVT
KREKLELSQR LSDLSEQLKQ KHGEISFLNE EVKSLKQEKE QVSLRCRELE IIINHNRAEN
VQSCDTQVSS LLDGVVTMTS RGAEGSVSKV NKSFGEESKI MVEDKVSFEN MTVGEESKQE
QLILDHLPSV TKESSLRATQ PSENDKLQKE LNVLKSEQND LRLQMEAQRI CLSLVYSTHV
DQVREYMENE KDKALCSLKE ELIFAQEEKI KELQKIHQLE LQTMKTQETG DEGKPLHLLI
GKLQKAVSEE CSYFLQTLCS VLGEYYTPAL KCEVNAEDKE NSGDYISENE DPELQDYRYE
VQDFQENMHT LLNKVTEEYN KLLVLQTRLS KIWGQQTDGM KLEFGEENLP KEETEFLSIH
SQMTNLEDID VNHKSKLSSL QDLEKTKLEE QVQELESLIS SLQQQLKETE QNYEAEIHCL
QKRLQAVSES TVPPSLPVDS VVITESDAQR TMYPGSCVKK NIDGTIEFSG EFGVKEETNI
VKLLEKQYQE QLEEEVAKVI VSMSIAFAQQ TELSRISGGK ENTASSKQAH AVCQQEQHYF
NEMKLSQDQI GFQTFETVDV KFKEEFKPLS KELGEHGKEI LLSNSDPHDI PESKDCVLTI
SEEMFSKDKT FIVRQSIHDE ISVSSMDASR QLMLNEEQLE DMRQELVRQY QEHQQATELL
RQAHMRQMER QREDQEQLQE EIKRLNRQLA QRSSIDNENL VSERERVLLE ELEALKQLSL
AGREKLCCEL RNSSTQTQNG NENQGEVEEQ TFKEKELDRK PEDVPPEILS NERYALQKAN
NRLLKILLEV VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT
RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE NEELMLNISS
RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE ATESLKCQEE LRERLHEESR
AREQLAVELS KAEGVIDGYA DEKTLFERQI QEKTDIIDRL EQELLCASNR LQELEAEQQQ
IQEERELLSR QKEAMKAEAG PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI
DVEEQVSRFI ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ
KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD IQERNEEIEK
LEFRVRELEQ ALLVSADTFQ KVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL
EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES
DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE
TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL
DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE
NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV
SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA
KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ
VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF
NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS
ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL
QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC
GTLKAVIQCL RSKEVFGFYN MCFSTLCDSG SDWGQGIYLT HSQGFDIASE GRGEESESAT
DSFPKKIKGL LRAVHNEGMQ VLSLTESPYS DGEDHSIQQV SEPWLEERKA YINTISSLKD
LITKMQLQRE AEVYDSSQSH ESFSDWRGEL LLALQQVFLE ERSVLLAAFR TELTALGTTD
AVGLLNCLEQ RIQEQGVEYQ AAMECLQKAD RRSLLSEIQA LHAQMNGRKI TLKREQESEK
PSQELLEYNI QQKQSQMLEM QVELSSMKDR ATELQEQLSS EKMVVAELKS ELAQTKLELE
TTLKAQHKHL KELEAFRLEV KDKTDEVHLL NDTLASEQKK SRELQWALEK EKAKLGRSEE
RDKEELEDLK FSLESQKQRN LQLNLLLEQQ KQLLNESQQK IESQRMLYDA QLSEEQGRNL
ELQVLLESEK VRIREMSSTL DRERELHAQL QSSDGTGQSR PPLPSEDLLK ELQKQLEEKH
SRIVELLNET EKYKLDSLQT RQQMEKDRQV HRKTLQTEQE ANTEGQKKMH ELQSKVEDLQ
RQLEEKRQQV YKLDLEGQRL QGIMQEFQKQ ELEREEKRES RRILYQNLNE PTTWSLTSDR
TRNWVLQQKI EGETKESNYA KLIEMNGGGT GCNHELEMIR QKLQCVASKL QVLPQKASER
LQFETADDED FIWVQENIDE IILQLQKLTG QQGEEPSLVS PSTSCGSLTE RLLRQNAELT
GHISQLTEEK NDLRNMVMKL EEQIRWYRQT GAGRDNSSRF SLNGGANIEA IIASEKEVWN
REKLTLQKSL KRAEAEVYKL KAELRNDSLL QTLSPDSEHV TLKRIYGKYL RAESFRKALI
YQKKYLLLLL GGFQECEDAT LALLARMGGQ PAFTDLEVIT NRPKGFTRFR SAVRVSIAIS
RMKFLVRRWH RVTGSVSINI NRDGFGLNQG AEKTDSFYHS SGGLELYGEP RHTTYRSRSD
LDYIRSPLPF QNRYPGTPAD FNPGSLACSQ LQNYDPDRAL TDYITRLEAL QRRLGTIQSG
STTQFHAGMR R*
mutated AA sequence MEDEERQKKL EAGKAKIEEL SLAFLVRQLA QFRQRKAQSD GQSPSKKQKK KRKTSSSKHD
VSAHHDLNID QSQCNEMYIN SSQRVESTVI PESTIMRTLH SGEITSHEQG FSVELESEIS
TTADDCSSEV NGCSFVMRTG KPTNLLREEE FGVDDSYSEQ GAQDSPTHLE MMESELAGKQ
HEIEELNREL EEMRVTYGTE GLQQLQEFEA AIKQRDGIIT QLTANLQQAR REKDETMREF
LELTEQSQKL QIQFQQLQAS ETLRNSTHSS TAADLLQAKQ QILTHQQQLE EQDHLLEDYQ
KKKEDFTMQI SFLQEKIKVY EMEQDKKVEN SNKEEIQEKE TIIEELNTKI IEEEKKTLEL
KDKLTTADKL LGELQEQIVQ KNQEIKNMKL ELTNSKQKER QSSEEIKQLM GTVEELQKRN
HKDSQFETDI VQRMEQETQR KLEQLRAELD EMYGQQIVQM KQELIRQHMA QMEEMKTRHK
GEMENALRSY SNITVNEDQI KLMNVAINEL NIKLQDTNSQ KEKLKEELGL ILEEKCALQR
QLEDLVEELS FSREQIQRAR QTIAEQESKL NEAHKSLSTV EDLKAEIVSA SESRKELELK
HEAEVTNYKI KLEMLEKEKN AVLDRMAESQ EAELERLRTQ LLFSHEEELS KLKEDLEIEH
RINIEKLKDN LGIHYKQQID GLQNEMSQKI ETMQFEKDNL ITKQNQLILE ISKLKDLQQS
LVNSKSEEMT LQINELQKEI EILRQEEKEK GTLEQEVQEL QLKTELLEKQ MKEKENDLQE
KFAQLEAENS ILKDEKKTLE DMLKIHTPVS QEERLIFLDS IKSKSKDSVW EKEIEILIEE
NEDLKQQCIQ LNEEIEKQRN TFSFAEKNFE VNYQELQEEY ACLLKVKDDL EDSKNKQELE
YKSKLKALNE ELHLQRINPT TVKMKSSVFD EDKTFVAETL EMGEVVEKDT TELMEKLEVT
KREKLELSQR LSDLSEQLKQ KHGEISFLNE EVKSLKQEKE QVSLRCRELE IIINHNRAEN
VQSCDTQVSS LLDGVVTMTS RGAEGSVSKV NKSFGEESKI MVEDKVSFEN MTVGEESKQE
QLILDHLPSV TKESSLRATQ PSENDKLQKE LNVLKSEQND LRLQMEAQRI CLSLVYSTHV
DQVREYMENE KDKALCSLKE ELIFAQEEKI KELQKIHQLE LQTMKTQETG DEGKPLHLLI
GKLQKAVSEE CSYFLQTLCS VLGEYYTPAL KCEVNAEDKE NSGDYISENE DPELQDYRYE
VQDFQENMHT LLNKVTEEYN KLLVLQTRLS KIWGQQTDGM KLEFGEENLP KEETEFLSIH
SQMTNLEDID VNHKSKLSSL QDLEKTKLEE QVQELESLIS SLQQQLKETE QNYEAEIHCL
QKRLQAVSES TVPPSLPVDS VVITESDAQR TMYPGSCVKK NIDGTIEFSG EFGVKEETNI
VKLLEKQYQE QLEEEVAKVI VSMSIAFAQQ TELSRISGGK ENTASSKQAH AVCQQEQHYF
NEMKLSQDQI GFQTFETVDV KFKEEFKPLS KELGEHGKEI LLSNSDPHDI PESKDCVLTI
SEEMFSKDKT FIVRQSIHDE ILVSSMDASR QLMLNEEQLE DMRQELVRQY QEHQQATELL
RQAHMRQMER QREDQEQLQE EIKRLNRQLA QRSSIDNENL VSERERVLLE ELEALKQLSL
AGREKLCCEL RNSSTQTQNG NENQGEVEEQ TFKEKELDRK PEDVPPEILS NERYALQKAN
NRLLKILLEV VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT
RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE NEELMLNISS
RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE ATESLKCQEE LRERLHEESR
AREQLAVELS KAEGVIDGYA DEKTLFERQI QEKTDIIDRL EQELLCASNR LQELEAEQQQ
IQEERELLSR QKEAMKAEAG PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI
DVEEQVSRFI ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ
KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD IQERNEEIEK
LEFRVRELEQ ALLVSADTFQ KVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL
EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES
DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE
TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL
DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE
NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV
SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA
KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ
VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF
NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS
ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL
QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC
GTLKAVIQCL RSKEVFGFYN MCFSTLCDSG SDWGQGIYLT HSQGFDIASE GRGEESESAT
DSFPKKIKGL LRAVHNEGMQ VLSLTESPYS DGEDHSIQQV SEPWLEERKA YINTISSLKD
LITKMQLQRE AEVYDSSQSH ESFSDWRGEL LLALQQVFLE ERSVLLAAFR TELTALGTTD
AVGLLNCLEQ RIQEQGVEYQ AAMECLQKAD RRSLLSEIQA LHAQMNGRKI TLKREQESEK
PSQELLEYNI QQKQSQMLEM QVELSSMKDR ATELQEQLSS EKMVVAELKS ELAQTKLELE
TTLKAQHKHL KELEAFRLEV KDKTDEVHLL NDTLASEQKK SRELQWALEK EKAKLGRSEE
RDKEELEDLK FSLESQKQRN LQLNLLLEQQ KQLLNESQQK IESQRMLYDA QLSEEQGRNL
ELQVLLESEK VRIREMSSTL DRERELHAQL QSSDGTGQSR PPLPSEDLLK ELQKQLEEKH
SRIVELLNET EKYKLDSLQT RQQMEKDRQV HRKTLQTEQE ANTEGQKKMH ELQSKVEDLQ
RQLEEKRQQV YKLDLEGQRL QGIMQEFQKQ ELEREEKRES RRILYQNLNE PTTWSLTSDR
TRNWVLQQKI EGETKESNYA KLIEMNGGGT GCNHELEMIR QKLQCVASKL QVLPQKASER
LQFETADDED FIWVQENIDE IILQLQKLTG QQGEEPSLVS PSTSCGSLTE RLLRQNAELT
GHISQLTEEK NDLRNMVMKL EEQIRWYRQT GAGRDNSSRF SLNGGANIEA IIASEKEVWN
REKLTLQKSL KRAEAEVYKL KAELRNDSLL QTLSPDSEHV TLKRIYGKYL RAESFRKALI
YQKKYLLLLL GGFQECEDAT LALLARMGGQ PAFTDLEVIT NRPKGFTRFR SAVRVSIAIS
RMKFLVRRWH RVTGSVSINI NRDGFGLNQG AEKTDSFYHS SGGLELYGEP RHTTYRSRSD
LDYIRSPLPF QNRYPGTPAD FNPGSLACSQ LQNYDPDRAL TDYITRLEAL QRRLGTIQSG
STTQFHAGMR R*
speed 0.66 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999942888      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM078295)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:91670004C>TN/A show variant in all transcripts   IGV
HGNC symbol AKAP9
Ensembl transcript ID ENST00000358100
Genbank transcript ID N/A
UniProt peptide Q99996
alteration type single base exchange
alteration region CDS
DNA changes c.4745C>T
cDNA.4970C>T
g.99824C>T
AA changes S1582L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1582
frameshift no
known variant Reference ID: rs121908566
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation at this position, please check HGMD for details (HGMD ID CM078295)

known disease mutation at this position, please check HGMD for details (HGMD ID CM078295)
known disease mutation at this position, please check HGMD for details (HGMD ID CM078295)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.030.067
0.3590.065
(flanking)0.1970.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased99820wt: 0.25 / mu: 0.66wt: ATGAGATTTCAGTGT
mu: ATGAGATTTTAGTGT		 GAGA|tttc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1582FIVRQSIHDEISVSSMDASRQLML
mutated  not conserved    1582FIVRQSIHDEILVSSMDASRQLM
Ptroglodytes  all identical  ENSPTRG00000019389  1571FIVRQSIHDEISVSSMDASRQLM
Mmulatta  all identical  ENSMMUG00000002364  1558FIVRQSIHDEISVS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000040407  1514FIVRKSMHDEVLVSSMDTSRQLI
Ggallus  all conserved  ENSGALG00000009348  1579HTAEETLCNNVVAASDMETSSQLL
Trubripes  not conserved  ENSTRUG00000013132  1531-LVRMQIIHELRRTVI
Drerio  no alignment  ENSDARG00000077668  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003440  1512YILQKDYNRMLAMGAENAKLR-P
protein features
start (aa)end (aa)featuredetails 
15851659COILEDPotential.might get lost (downstream of altered splice site)
16261626CONFLICTR -> P (in Ref. 1; AAB86384 and 2; CAB40713).might get lost (downstream of altered splice site)
17031703CONFLICTN -> T (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
17071707CONFLICTV -> G (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
18021803CONFLICTMissing (in Ref. 7; AAD22767).might get lost (downstream of altered splice site)
18431843CONFLICTA -> P (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
18462772COMPBIASGlu-rich.might get lost (downstream of altered splice site)
18572455COILEDPotential.might get lost (downstream of altered splice site)
19561956CONFLICTI -> V (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
20272027CONFLICTV -> D (in Ref. 7; AAD22767).might get lost (downstream of altered splice site)
21572158CONFLICTEI -> HE (in Ref. 7; AAD39719).might get lost (downstream of altered splice site)
21692169CONFLICTE -> V (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
25142514CONFLICTL -> R (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
25442561COILEDPotential.might get lost (downstream of altered splice site)
25542567REGIONPKA-RII subunit binding domain.might get lost (downstream of altered splice site)
26032776COILEDPotential.might get lost (downstream of altered splice site)
28512851CONFLICTI -> N (in Ref. 8; BAA34523).might get lost (downstream of altered splice site)
29572957CONFLICTE -> D (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
30653092COILEDPotential.might get lost (downstream of altered splice site)
30873087CONFLICTQ -> H (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
31243470COILEDPotential.might get lost (downstream of altered splice site)
32183218CONFLICTQ -> H (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
33073309CONFLICTESE -> QSQ (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
35873689COILEDPotential.might get lost (downstream of altered splice site)
37263730COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
37513751CONFLICTP -> A (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
38333833CONFLICTT -> S (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
38463846MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
38693869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11574 / 11574
position (AA) of stopcodon in wt / mu AA sequence 3858 / 3858
position of stopcodon in wt / mu cDNA 11799 / 11799
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 226 / 226
chromosome 7
strand 1
last intron/exon boundary 11762
theoretical NMD boundary in CDS 11486
length of CDS 11574
coding sequence (CDS) position 4745
cDNA position
(for ins/del: last normal base / first normal base)		 4970
gDNA position
(for ins/del: last normal base / first normal base)		 99824
chromosomal position
(for ins/del: last normal base / first normal base)		 91670004
original gDNA sequence snippet AAAGATTCATGATGAGATTTCAGTGTCAAGCATGGATGCTT
altered gDNA sequence snippet AAAGATTCATGATGAGATTTTAGTGTCAAGCATGGATGCTT
original cDNA sequence snippet GTCTATTCATGATGAGATTTCAGTGTCAAGCATGGATGCTT
altered cDNA sequence snippet GTCTATTCATGATGAGATTTTAGTGTCAAGCATGGATGCTT
wildtype AA sequence MEDEERQKKL EAGKAKIEEL SLAFLVRQLA QFRQRKAQSD GQSPSKKQKK KRKTSSSKHD
VSAHHDLNID QSQCNEMYIN SSQRVESTVI PESTIMRTLH SGEITSHEQG FSVELESEIS
TTADDCSSEV NGCSFVMRTG KPTNLLREEE FGVDDSYSEQ GAQDSPTHLE MMESELAGKQ
HEIEELNREL EEMRVTYGTE GLQQLQEFEA AIKQRDGIIT QLTANLQQAR REKDETMREF
LELTEQSQKL QIQFQQLQAS ETLRNSTHSS TAADLLQAKQ QILTHQQQLE EQDHLLEDYQ
KKKEDFTMQI SFLQEKIKVY EMEQDKKVEN SNKEEIQEKE TIIEELNTKI IEEEKKTLEL
KDKLTTADKL LGELQEQIVQ KNQEIKNMKL ELTNSKQKER QSSEEIKQLM GTVEELQKRN
HKDSQFETDI VQRMEQETQR KLEQLRAELD EMYGQQIVQM KQELIRQHMA QMEEMKTRHK
GEMENALRSY SNITVNEDQI KLMNVAINEL NIKLQDTNSQ KEKLKEELGL ILEEKCALQR
QLEDLVEELS FSREQIQRAR QTIAEQESKL NEAHKSLSTV EDLKAEIVSA SESRKELELK
HEAEVTNYKI KLEMLEKEKN AVLDRMAESQ EAELERLRTQ LLFSHEEELS KLKEDLEIEH
RINIEKLKDN LGIHYKQQID GLQNEMSQKI ETMQFEKDNL ITKQNQLILE ISKLKDLQQS
LVNSKSEEMT LQINELQKEI EILRQEEKEK GTLEQEVQEL QLKTELLEKQ MKEKENDLQE
KFAQLEAENS ILKDEKKTLE DMLKIHTPVS QEERLIFLDS IKSKSKDSVW EKEIEILIEE
NEDLKQQCIQ LNEEIEKQRN TFSFAEKNFE VNYQELQEEY ACLLKVKDDL EDSKNKQELE
YKSKLKALNE ELHLQRINPT TVKMKSSVFD EDKTFVAETL EMGEVVEKDT TELMEKLEVT
KREKLELSQR LSDLSEQLKQ KHGEISFLNE EVKSLKQEKE QVSLRCRELE IIINHNRAEN
VQSCDTQVSS LLDGVVTMTS RGAEGSVSKV NKSFGEESKI MVEDKVSFEN MTVGEESKQE
QLILDHLPSV TKESSLRATQ PSENDKLQKE LNVLKSEQND LRLQMEAQRI CLSLVYSTHV
DQVREYMENE KDKALCSLKE ELIFAQEEKI KELQKIHQLE LQTMKTQETG DEGKPLHLLI
GKLQKAVSEE CSYFLQTLCS VLGEYYTPAL KCEVNAEDKE NSGDYISENE DPELQDYRYE
VQDFQENMHT LLNKVTEEYN KLLVLQTRLS KIWGQQTDGM KLEFGEENLP KEETEFLSIH
SQMTNLEDID VNHKSKLSSL QDLEKTKLEE QVQELESLIS SLQQQLKETE QNYEAEIHCL
QKRLQAVSES TVPPSLPVDS VVITESDAQR TMYPGSCVKK NIDGTIEFSG EFGVKEETNI
VKLLEKQYQE QLEEEVAKVI VSMSIAFAQQ TELSRISGGK ENTASSKQAH AVCQQEQHYF
NEMKLSQDQI GFQTFETVDV KFKEEFKPLS KELGEHGKEI LLSNSDPHDI PESKDCVLTI
SEEMFSKDKT FIVRQSIHDE ISVSSMDASR QLMLNEEQLE DMRQELVRQY QEHQQATELL
RQAHMRQMER QREDQEQLQE EIKRLNRQLA QRSSIDNENL VSERERVLLE ELEALKQLSL
AGREKLCCEL RNSSTQTQNG NENQGEVEEQ TFKEKELDRK PEDVPPEILS NERYALQKAN
NRLLKILLEV VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT
RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE NEELMLNISS
RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE ATESLKCQEE LRERLHEESR
AREQLAVELS KAEGVIDGYA DEKTLFERQI QEKTDIIDRL EQELLCASNR LQELEAEQQQ
IQEERELLSR QKEAMKAEAG PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI
DVEEQVSRFI ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ
KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD IQERNEEIEK
LEFRVRELEQ ALLVSADTFQ KVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL
EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES
DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE
TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL
DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE
NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV
SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA
KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ
VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF
NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS
ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL
QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC
GTLKAVIQCL RSKEGLLRAV HNEGMQVLSL TESPYSDGED HSIQQVSEPW LEERKAYINT
ISSLKDLITK MQLQREAEVY DSSQSHESFS DWRGELLLAL QQVFLEERSV LLAAFRTELT
ALGTTDAVGL LNCLEQRIQE QGVEYQAAME CLQKADRRSL LSEIQALHAQ MNGRKITLKR
EQESEKPSQE LLEYNIQQKQ SQMLEMQVEL SSMKDRATEL QEQLSSEKMV VAELKSELAQ
TKLELETTLK AQHKHLKELE AFRLEVKDKT DEVHLLNDTL ASEQKKSREL QWALEKEKAK
LGRSEERDKE ELEDLKFSLE SQKQRNLQLN LLLEQQKQLL NESQQKIESQ RMLYDAQLSE
EQGRNLELQV LLESEKVRIR EMSSTLDRER ELHAQLQSSD GTGQSRPPLP SEDLLKELQK
QLEEKHSRIV ELLNETEKYK LDSLQTRQQM EKDRQVHRKT LQTEQEANTE GQKKMHELQS
KVEDLQRQLE EKRQQVYKLD LEGQRLQGIM QEFQKQELER EEKRESRRIL YQNLNEPTTW
SLTSDRTRNW VLQQKIEGET KESNYAKLIE MNGGGTGCNH ELEMIRQKLQ CVASKLQVLP
QKASERLQFE TADDEDFIWV QENIDEIILQ LQKLTGQQGE EPSLVSPSTS CGSLTERLLR
QNAELTGHIS QLTEEKNDLR NMVMKLEEQI RWYRQTGAGR DNSSRFSLNG GANIEAIIAS
EKEVWNREKL TLQKSLKRAE AEVYKLKAEL RNDSLLQTLS PDSEHVTLKR IYGKYLRAES
FRKALIYQKK YLLLLLGGFQ ECEDATLALL ARMGGQPAFT DLEVITNRPK GFTRFRSAVR
VSIAISRMKF LVRRWHRVTG SVSININRDG FGLNQGAEKT DSFYHSSGGL ELYGEPRHTT
YRSRSDLDYI RSPLPFQNRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL
GTIQSGSTTQ FHAGMRR*
mutated AA sequence MEDEERQKKL EAGKAKIEEL SLAFLVRQLA QFRQRKAQSD GQSPSKKQKK KRKTSSSKHD
VSAHHDLNID QSQCNEMYIN SSQRVESTVI PESTIMRTLH SGEITSHEQG FSVELESEIS
TTADDCSSEV NGCSFVMRTG KPTNLLREEE FGVDDSYSEQ GAQDSPTHLE MMESELAGKQ
HEIEELNREL EEMRVTYGTE GLQQLQEFEA AIKQRDGIIT QLTANLQQAR REKDETMREF
LELTEQSQKL QIQFQQLQAS ETLRNSTHSS TAADLLQAKQ QILTHQQQLE EQDHLLEDYQ
KKKEDFTMQI SFLQEKIKVY EMEQDKKVEN SNKEEIQEKE TIIEELNTKI IEEEKKTLEL
KDKLTTADKL LGELQEQIVQ KNQEIKNMKL ELTNSKQKER QSSEEIKQLM GTVEELQKRN
HKDSQFETDI VQRMEQETQR KLEQLRAELD EMYGQQIVQM KQELIRQHMA QMEEMKTRHK
GEMENALRSY SNITVNEDQI KLMNVAINEL NIKLQDTNSQ KEKLKEELGL ILEEKCALQR
QLEDLVEELS FSREQIQRAR QTIAEQESKL NEAHKSLSTV EDLKAEIVSA SESRKELELK
HEAEVTNYKI KLEMLEKEKN AVLDRMAESQ EAELERLRTQ LLFSHEEELS KLKEDLEIEH
RINIEKLKDN LGIHYKQQID GLQNEMSQKI ETMQFEKDNL ITKQNQLILE ISKLKDLQQS
LVNSKSEEMT LQINELQKEI EILRQEEKEK GTLEQEVQEL QLKTELLEKQ MKEKENDLQE
KFAQLEAENS ILKDEKKTLE DMLKIHTPVS QEERLIFLDS IKSKSKDSVW EKEIEILIEE
NEDLKQQCIQ LNEEIEKQRN TFSFAEKNFE VNYQELQEEY ACLLKVKDDL EDSKNKQELE
YKSKLKALNE ELHLQRINPT TVKMKSSVFD EDKTFVAETL EMGEVVEKDT TELMEKLEVT
KREKLELSQR LSDLSEQLKQ KHGEISFLNE EVKSLKQEKE QVSLRCRELE IIINHNRAEN
VQSCDTQVSS LLDGVVTMTS RGAEGSVSKV NKSFGEESKI MVEDKVSFEN MTVGEESKQE
QLILDHLPSV TKESSLRATQ PSENDKLQKE LNVLKSEQND LRLQMEAQRI CLSLVYSTHV
DQVREYMENE KDKALCSLKE ELIFAQEEKI KELQKIHQLE LQTMKTQETG DEGKPLHLLI
GKLQKAVSEE CSYFLQTLCS VLGEYYTPAL KCEVNAEDKE NSGDYISENE DPELQDYRYE
VQDFQENMHT LLNKVTEEYN KLLVLQTRLS KIWGQQTDGM KLEFGEENLP KEETEFLSIH
SQMTNLEDID VNHKSKLSSL QDLEKTKLEE QVQELESLIS SLQQQLKETE QNYEAEIHCL
QKRLQAVSES TVPPSLPVDS VVITESDAQR TMYPGSCVKK NIDGTIEFSG EFGVKEETNI
VKLLEKQYQE QLEEEVAKVI VSMSIAFAQQ TELSRISGGK ENTASSKQAH AVCQQEQHYF
NEMKLSQDQI GFQTFETVDV KFKEEFKPLS KELGEHGKEI LLSNSDPHDI PESKDCVLTI
SEEMFSKDKT FIVRQSIHDE ILVSSMDASR QLMLNEEQLE DMRQELVRQY QEHQQATELL
RQAHMRQMER QREDQEQLQE EIKRLNRQLA QRSSIDNENL VSERERVLLE ELEALKQLSL
AGREKLCCEL RNSSTQTQNG NENQGEVEEQ TFKEKELDRK PEDVPPEILS NERYALQKAN
NRLLKILLEV VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT
RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE NEELMLNISS
RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE ATESLKCQEE LRERLHEESR
AREQLAVELS KAEGVIDGYA DEKTLFERQI QEKTDIIDRL EQELLCASNR LQELEAEQQQ
IQEERELLSR QKEAMKAEAG PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI
DVEEQVSRFI ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ
KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD IQERNEEIEK
LEFRVRELEQ ALLVSADTFQ KVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL
EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES
DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE
TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL
DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE
NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV
SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA
KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ
VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF
NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS
ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL
QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC
GTLKAVIQCL RSKEGLLRAV HNEGMQVLSL TESPYSDGED HSIQQVSEPW LEERKAYINT
ISSLKDLITK MQLQREAEVY DSSQSHESFS DWRGELLLAL QQVFLEERSV LLAAFRTELT
ALGTTDAVGL LNCLEQRIQE QGVEYQAAME CLQKADRRSL LSEIQALHAQ MNGRKITLKR
EQESEKPSQE LLEYNIQQKQ SQMLEMQVEL SSMKDRATEL QEQLSSEKMV VAELKSELAQ
TKLELETTLK AQHKHLKELE AFRLEVKDKT DEVHLLNDTL ASEQKKSREL QWALEKEKAK
LGRSEERDKE ELEDLKFSLE SQKQRNLQLN LLLEQQKQLL NESQQKIESQ RMLYDAQLSE
EQGRNLELQV LLESEKVRIR EMSSTLDRER ELHAQLQSSD GTGQSRPPLP SEDLLKELQK
QLEEKHSRIV ELLNETEKYK LDSLQTRQQM EKDRQVHRKT LQTEQEANTE GQKKMHELQS
KVEDLQRQLE EKRQQVYKLD LEGQRLQGIM QEFQKQELER EEKRESRRIL YQNLNEPTTW
SLTSDRTRNW VLQQKIEGET KESNYAKLIE MNGGGTGCNH ELEMIRQKLQ CVASKLQVLP
QKASERLQFE TADDEDFIWV QENIDEIILQ LQKLTGQQGE EPSLVSPSTS CGSLTERLLR
QNAELTGHIS QLTEEKNDLR NMVMKLEEQI RWYRQTGAGR DNSSRFSLNG GANIEAIIAS
EKEVWNREKL TLQKSLKRAE AEVYKLKAEL RNDSLLQTLS PDSEHVTLKR IYGKYLRAES
FRKALIYQKK YLLLLLGGFQ ECEDATLALL ARMGGQPAFT DLEVITNRPK GFTRFRSAVR
VSIAISRMKF LVRRWHRVTG SVSININRDG FGLNQGAEKT DSFYHSSGGL ELYGEPRHTT
YRSRSDLDYI RSPLPFQNRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL
GTIQSGSTTQ FHAGMRR*
speed 0.72 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
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Problems