Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999784589 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM064968)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:91630620G>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.1425G>T
cDNA.1650G>T
g.60440G>T
AA changes M475I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 475
frameshift no
known variant Reference ID: rs6964587
databasehomozygous (T/T)heterozygousallele carriers
1000G39810681466
ExAC91761441523591

known disease mutation at this position, please check HGMD for details (HGMD ID CM064968)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.350.98
0.0660.072
(flanking)0.5450.032
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased60433wt: 0.88 / mu: 0.99wt: GATGGAGGAAATGAA
mu: GATGGAGGAAATTAA		 TGGA|ggaa
Donor increased60438wt: 0.50 / mu: 0.84wt: AGGAAATGAAAACAC
mu: AGGAAATTAAAACAC		 GAAA|tgaa
Donor increased60442wt: 0.85 / mu: 0.95wt: AATGAAAACACGGCA
mu: AATTAAAACACGGCA		 TGAA|aaca
distance from splice site 459
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      475LIRQHMAQMEEMKTRHKGEMENAL
mutated  all conserved    475LIRQHMAQMEEIKTRHK
Ptroglodytes  all conserved  ENSPTRG00000019389  463LIRQHMAQMEEIKTRHK
Mmulatta  all conserved  ENSMMUG00000002364  447LIRQHVSQMEELKTRHKGEMENA
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000040407  424LINQHMSQIEELKSQHK
Ggallus  not conserved  ENSGALG00000009348  455LIKQHAVEIEQRLAQQKVELEKT
Trubripes  all identical  ENSTRUG00000013132  482RVEQMATQHRAELELL
Drerio  no alignment  ENSDARG00000077668  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003440  432LVKQHASEIEKLLAQHKAELDN-
protein features
start (aa)end (aa)featuredetails 
164914COILEDPotential.lost
3211010COMPBIASGlu-rich.lost
554554CONFLICTE -> G (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
638638CONFLICTR -> S (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
663663CONFLICTN -> S (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
913913CONFLICTH -> N (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
9441022COILEDPotential.might get lost (downstream of altered splice site)
956956CONFLICTK -> N (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
980982CONFLICTQKH -> PKP (in Ref. 1; AAB86384 and 2; CAB40713).might get lost (downstream of altered splice site)
997997CONFLICTQ -> P (in Ref. 1; AAB86384 and 2; CAB40713).might get lost (downstream of altered splice site)
10011001CONFLICTQ -> P (in Ref. 1; AAB86384 and 2; CAB40713).might get lost (downstream of altered splice site)
10201020CONFLICTN -> D (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
10281028CONFLICTV -> E (in Ref. 3; BAA78718).might get lost (downstream of altered splice site)
11001185COILEDPotential.might get lost (downstream of altered splice site)
12531280COILEDPotential.might get lost (downstream of altered splice site)
13361392COILEDPotential.might get lost (downstream of altered splice site)
14341459COILEDPotential.might get lost (downstream of altered splice site)
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 1425
cDNA position
(for ins/del: last normal base / first normal base)		 1650
gDNA position
(for ins/del: last normal base / first normal base)		 60440
chromosomal position
(for ins/del: last normal base / first normal base)		 91630620
original gDNA sequence snippet ATGGCACAGATGGAGGAAATGAAAACACGGCATAAGGGAGA
altered gDNA sequence snippet ATGGCACAGATGGAGGAAATTAAAACACGGCATAAGGGAGA
original cDNA sequence snippet ATGGCACAGATGGAGGAAATGAAAACACGGCATAAGGGAGA
altered cDNA sequence snippet ATGGCACAGATGGAGGAAATTAAAACACGGCATAAGGGAGA
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 QMEEIKTRHK
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*
speed 1.08 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