MutationTaster - study a chromosomal position

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 0 s - this script 3.39488 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AKAP9	polymorphism_automatic	2.15411022352896e-10	simple_aae		affected		M463I	single base exchange	rs6964587		show file
AKAP9	polymorphism_automatic	2.15411022352896e-10	simple_aae		affected		M475I	single base exchange	rs6964587		show file
AKAP9	polymorphism_automatic	2.15411022352896e-10	simple_aae		affected		M475I	single base exchange	rs6964587		show file

Taster files

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

ENST00000356239

Genbank transcript ID

NM_005751

UniProt peptide

Q99996

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1389G>T
cDNA.1622G>T
g.60440G>T

AA changes

M463I Score: 10 explain score(s)

position(s) of altered AA
if AA alteration in CDS

463

frameshift

known variant

Reference ID: rs6964587

database	homozygous (T/T)	heterozygous	allele carriers
1000G	398	1068	1466
ExAC	9176	14415	23591

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

	PhyloP	PhastCons
(flanking)	2.35	0.98
	0.066	0.072
(flanking)	0.545	0.032

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	60442	wt: 0.85 / mu: 0.95	wt: AATGAAAACACGGCA mu: AATTAAAACACGGCA	TGAA\|aaca
Donor increased	60438	wt: 0.50 / mu: 0.84	wt: AGGAAATGAAAACAC mu: AGGAAATTAAAACAC	GAAA\|tgaa
Donor increased	60433	wt: 0.88 / mu: 0.99	wt: GATGGAGGAAATGAA mu: GATGGAGGAAATTAA	TGGA\|ggaa

distance from splice site

459

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

463

mutated

all conserved

463

Ptroglodytes

all conserved

ENSPTRG00000019389

463

Mmulatta

all conserved

ENSMMUG00000002364

447

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000040407

424

Ggallus

not conserved

ENSGALG00000009348

455

Trubripes

all identical

ENSTRUG00000013132

482

Drerio

no alignment

ENSDARG00000077668

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003440

432

protein features

start (aa)	end (aa)	feature	details
164	914	COILED	Potential.	lost
321	1010	COMPBIAS	Glu-rich.	lost
554	554	CONFLICT	E -> G (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
638	638	CONFLICT	R -> S (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
663	663	CONFLICT	N -> S (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
913	913	CONFLICT	H -> N (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
944	1022	COILED	Potential.	might get lost (downstream of altered splice site)
956	956	CONFLICT	K -> N (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
980	982	CONFLICT	QKH -> PKP (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
997	997	CONFLICT	Q -> P (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
1001	1001	CONFLICT	Q -> P (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
1020	1020	CONFLICT	N -> D (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1028	1028	CONFLICT	V -> E (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1100	1185	COILED	Potential.	might get lost (downstream of altered splice site)
1253	1280	COILED	Potential.	might get lost (downstream of altered splice site)
1336	1392	COILED	Potential.	might get lost (downstream of altered splice site)
1434	1459	COILED	Potential.	might get lost (downstream of altered splice site)
1585	1659	COILED	Potential.	might get lost (downstream of altered splice site)
1626	1626	CONFLICT	R -> P (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
1703	1703	CONFLICT	N -> T (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1707	1707	CONFLICT	V -> G (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1802	1803	CONFLICT	Missing (in Ref. 7; AAD22767).	might get lost (downstream of altered splice site)
1843	1843	CONFLICT	A -> P (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1846	2772	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
1857	2455	COILED	Potential.	might get lost (downstream of altered splice site)
1956	1956	CONFLICT	I -> V (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
2027	2027	CONFLICT	V -> D (in Ref. 7; AAD22767).	might get lost (downstream of altered splice site)
2157	2158	CONFLICT	EI -> HE (in Ref. 7; AAD39719).	might get lost (downstream of altered splice site)
2169	2169	CONFLICT	E -> V (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
2514	2514	CONFLICT	L -> R (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
2544	2561	COILED	Potential.	might get lost (downstream of altered splice site)
2554	2567	REGION	PKA-RII subunit binding domain.	might get lost (downstream of altered splice site)
2603	2776	COILED	Potential.	might get lost (downstream of altered splice site)
2851	2851	CONFLICT	I -> N (in Ref. 8; BAA34523).	might get lost (downstream of altered splice site)
2957	2957	CONFLICT	E -> D (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3065	3092	COILED	Potential.	might get lost (downstream of altered splice site)
3087	3087	CONFLICT	Q -> H (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3124	3470	COILED	Potential.	might get lost (downstream of altered splice site)
3218	3218	CONFLICT	Q -> H (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3307	3309	CONFLICT	ESE -> QSQ (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3587	3689	COILED	Potential.	might get lost (downstream of altered splice site)
3726	3730	COMPBIAS	Poly-Leu.	might get lost (downstream of altered splice site)
3751	3751	CONFLICT	P -> A (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3833	3833	CONFLICT	T -> S (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3846	3846	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3869	3869	MOD_RES	Phosphoserine.	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

strand

last intron/exon boundary

11920

theoretical NMD boundary in CDS

11636

length of CDS

11724

coding sequence (CDS) position

1389

cDNA position
(for ins/del: last normal base / first normal base)

1622

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 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 EEIKTRHKGE 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*

speed

0.61 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

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

ENST00000359028

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

known variant

Reference ID: rs6964587

database	homozygous (T/T)	heterozygous	allele carriers
1000G	398	1068	1466
ExAC	9176	14415	23591

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

	PhyloP	PhastCons
(flanking)	2.35	0.98
	0.066	0.072
(flanking)	0.545	0.032

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	60442	wt: 0.85 / mu: 0.95	wt: AATGAAAACACGGCA mu: AATTAAAACACGGCA	TGAA\|aaca
Donor increased	60438	wt: 0.50 / mu: 0.84	wt: AGGAAATGAAAACAC mu: AGGAAATTAAAACAC	GAAA\|tgaa
Donor increased	60433	wt: 0.88 / mu: 0.99	wt: GATGGAGGAAATGAA mu: GATGGAGGAAATTAA	TGGA\|ggaa

distance from splice site

459

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

475

mutated

all conserved

475

Ptroglodytes

all conserved

ENSPTRG00000019389

463

Mmulatta

all conserved

ENSMMUG00000002364

447

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000040407

424

Ggallus

not conserved

ENSGALG00000009348

455

Trubripes

all identical

ENSTRUG00000013132

482

Drerio

no alignment

ENSDARG00000077668

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003440

432

protein features

start (aa)	end (aa)	feature	details
164	914	COILED	Potential.	lost
321	1010	COMPBIAS	Glu-rich.	lost
554	554	CONFLICT	E -> G (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
638	638	CONFLICT	R -> S (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
663	663	CONFLICT	N -> S (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
913	913	CONFLICT	H -> N (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
944	1022	COILED	Potential.	might get lost (downstream of altered splice site)
956	956	CONFLICT	K -> N (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
980	982	CONFLICT	QKH -> PKP (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
997	997	CONFLICT	Q -> P (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
1001	1001	CONFLICT	Q -> P (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
1020	1020	CONFLICT	N -> D (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1028	1028	CONFLICT	V -> E (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1100	1185	COILED	Potential.	might get lost (downstream of altered splice site)
1253	1280	COILED	Potential.	might get lost (downstream of altered splice site)
1336	1392	COILED	Potential.	might get lost (downstream of altered splice site)
1434	1459	COILED	Potential.	might get lost (downstream of altered splice site)
1585	1659	COILED	Potential.	might get lost (downstream of altered splice site)
1626	1626	CONFLICT	R -> P (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
1703	1703	CONFLICT	N -> T (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1707	1707	CONFLICT	V -> G (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1802	1803	CONFLICT	Missing (in Ref. 7; AAD22767).	might get lost (downstream of altered splice site)
1843	1843	CONFLICT	A -> P (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1846	2772	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
1857	2455	COILED	Potential.	might get lost (downstream of altered splice site)
1956	1956	CONFLICT	I -> V (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
2027	2027	CONFLICT	V -> D (in Ref. 7; AAD22767).	might get lost (downstream of altered splice site)
2157	2158	CONFLICT	EI -> HE (in Ref. 7; AAD39719).	might get lost (downstream of altered splice site)
2169	2169	CONFLICT	E -> V (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
2514	2514	CONFLICT	L -> R (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
2544	2561	COILED	Potential.	might get lost (downstream of altered splice site)
2554	2567	REGION	PKA-RII subunit binding domain.	might get lost (downstream of altered splice site)
2603	2776	COILED	Potential.	might get lost (downstream of altered splice site)
2851	2851	CONFLICT	I -> N (in Ref. 8; BAA34523).	might get lost (downstream of altered splice site)
2957	2957	CONFLICT	E -> D (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3065	3092	COILED	Potential.	might get lost (downstream of altered splice site)
3087	3087	CONFLICT	Q -> H (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3124	3470	COILED	Potential.	might get lost (downstream of altered splice site)
3218	3218	CONFLICT	Q -> H (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3307	3309	CONFLICT	ESE -> QSQ (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3587	3689	COILED	Potential.	might get lost (downstream of altered splice site)
3726	3730	COMPBIAS	Poly-Leu.	might get lost (downstream of altered splice site)
3751	3751	CONFLICT	P -> A (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3833	3833	CONFLICT	T -> S (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3846	3846	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3869	3869	MOD_RES	Phosphoserine.	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

strand

last intron/exon boundary

11924

theoretical NMD boundary in CDS

11648

length of CDS

11736

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 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 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 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

0.65 s

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

known variant

Reference ID: rs6964587

database	homozygous (T/T)	heterozygous	allele carriers
1000G	398	1068	1466
ExAC	9176	14415	23591

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

	PhyloP	PhastCons
(flanking)	2.35	0.98
	0.066	0.072
(flanking)	0.545	0.032

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	60442	wt: 0.85 / mu: 0.95	wt: AATGAAAACACGGCA mu: AATTAAAACACGGCA	TGAA\|aaca
Donor increased	60438	wt: 0.50 / mu: 0.84	wt: AGGAAATGAAAACAC mu: AGGAAATTAAAACAC	GAAA\|tgaa
Donor increased	60433	wt: 0.88 / mu: 0.99	wt: GATGGAGGAAATGAA mu: GATGGAGGAAATTAA	TGGA\|ggaa

distance from splice site

459

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

475

mutated

all conserved

475

Ptroglodytes

all conserved

ENSPTRG00000019389

463

Mmulatta

all conserved

ENSMMUG00000002364

447

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000040407

424

Ggallus

not conserved

ENSGALG00000009348

455

Trubripes

all identical

ENSTRUG00000013132

482

Drerio

no alignment

ENSDARG00000077668

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003440

432

protein features

start (aa)	end (aa)	feature	details
164	914	COILED	Potential.	lost
321	1010	COMPBIAS	Glu-rich.	lost
554	554	CONFLICT	E -> G (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
638	638	CONFLICT	R -> S (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
663	663	CONFLICT	N -> S (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
913	913	CONFLICT	H -> N (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
944	1022	COILED	Potential.	might get lost (downstream of altered splice site)
956	956	CONFLICT	K -> N (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
980	982	CONFLICT	QKH -> PKP (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
997	997	CONFLICT	Q -> P (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
1001	1001	CONFLICT	Q -> P (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
1020	1020	CONFLICT	N -> D (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1028	1028	CONFLICT	V -> E (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1100	1185	COILED	Potential.	might get lost (downstream of altered splice site)
1253	1280	COILED	Potential.	might get lost (downstream of altered splice site)
1336	1392	COILED	Potential.	might get lost (downstream of altered splice site)
1434	1459	COILED	Potential.	might get lost (downstream of altered splice site)
1585	1659	COILED	Potential.	might get lost (downstream of altered splice site)
1626	1626	CONFLICT	R -> P (in Ref. 1; AAB86384 and 2; CAB40713).	might get lost (downstream of altered splice site)
1703	1703	CONFLICT	N -> T (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1707	1707	CONFLICT	V -> G (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1802	1803	CONFLICT	Missing (in Ref. 7; AAD22767).	might get lost (downstream of altered splice site)
1843	1843	CONFLICT	A -> P (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
1846	2772	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
1857	2455	COILED	Potential.	might get lost (downstream of altered splice site)
1956	1956	CONFLICT	I -> V (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
2027	2027	CONFLICT	V -> D (in Ref. 7; AAD22767).	might get lost (downstream of altered splice site)
2157	2158	CONFLICT	EI -> HE (in Ref. 7; AAD39719).	might get lost (downstream of altered splice site)
2169	2169	CONFLICT	E -> V (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
2514	2514	CONFLICT	L -> R (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
2544	2561	COILED	Potential.	might get lost (downstream of altered splice site)
2554	2567	REGION	PKA-RII subunit binding domain.	might get lost (downstream of altered splice site)
2603	2776	COILED	Potential.	might get lost (downstream of altered splice site)
2851	2851	CONFLICT	I -> N (in Ref. 8; BAA34523).	might get lost (downstream of altered splice site)
2957	2957	CONFLICT	E -> D (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3065	3092	COILED	Potential.	might get lost (downstream of altered splice site)
3087	3087	CONFLICT	Q -> H (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3124	3470	COILED	Potential.	might get lost (downstream of altered splice site)
3218	3218	CONFLICT	Q -> H (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3307	3309	CONFLICT	ESE -> QSQ (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3587	3689	COILED	Potential.	might get lost (downstream of altered splice site)
3726	3730	COMPBIAS	Poly-Leu.	might get lost (downstream of altered splice site)
3751	3751	CONFLICT	P -> A (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3833	3833	CONFLICT	T -> S (in Ref. 3; BAA78718).	might get lost (downstream of altered splice site)
3846	3846	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3869	3869	MOD_RES	Phosphoserine.	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

strand

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

0.61 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems