mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:86123833T>CN/A show variant in all transcripts IGV

HGNC symbol

AKAP13

Ensembl transcript ID

ENST00000361243

Genbank transcript ID

NM_006738

UniProt peptide

Q12802

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2534T>C
cDNA.2615T>C
g.200032T>C

AA changes

V845A Score: 64 explain score(s)

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

845

frameshift

known variant

Reference ID: rs4075256

database	homozygous (C/C)	heterozygous	allele carriers
1000G	864	1187	2051
ExAC	22559	-12351	10208

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
PU1, Transcription Factor, PU1 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.088	0
	-0.378	0
(flanking)	-3.99	0

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	200033	wt: 0.33 / mu: 0.71	wt: GCAGTAGGCCTGTCC mu: GCAGCAGGCCTGTCC	AGTA\|ggcc

distance from splice site

1506

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

845

mutated

not conserved

845

Ptroglodytes

not conserved

ENSPTRG00000007414

845

Mmulatta

not conserved

ENSMMUG00000011251

833

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000066406

838

Ggallus

no alignment

ENSGALG00000006840

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000079358

n/a

Dmelanogaster

no alignment

FBgn0032796

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
983	983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1251	1251	MUTAGEN	A->P: Loss of PKA anchoring; when associated with P-1260.	might get lost (downstream of altered splice site)
1260	1260	MUTAGEN	I->P: Loss of PKA anchoring; when associated with P-1251.	might get lost (downstream of altered splice site)
1265	1265	MUTAGEN	A->P: Abolishes RII-binding.	might get lost (downstream of altered splice site)
1385	1387	CONFLICT	TQA -> MLY (in Ref. 5; AAD21311).	might get lost (downstream of altered splice site)
1471	1474	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1534	1537	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
1547	1547	CONFLICT	N -> H (in Ref. 10; BAD92651).	might get lost (downstream of altered splice site)
1559	1559	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1642	1642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1645	1645	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1647	1647	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1758	1790	COILED	Potential.	might get lost (downstream of altered splice site)
1766	1768	CONFLICT	EKE -> KKK (in Ref. 9; AAA58670).	might get lost (downstream of altered splice site)
1791	1838	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
1876	1876	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1877	1877	CONFLICT	A -> G (in Ref. 6; AAD40799).	might get lost (downstream of altered splice site)
1895	1895	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1897	1897	CONFLICT	Q -> E (in Ref. 6; AAD40799).	might get lost (downstream of altered splice site)
1919	2813	REGION	Interaction with ESR1.	might get lost (downstream of altered splice site)
1929	1929	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1932	1932	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1994	2191	DOMAIN	DH.	might get lost (downstream of altered splice site)
2035	2035	CONFLICT	V -> D (in Ref. 5; AAD21311).	might get lost (downstream of altered splice site)
2153	2153	MUTAGEN	Y->F: Loss of interaction with RHOA.	might get lost (downstream of altered splice site)
2166	2168	TURN		might get lost (downstream of altered splice site)
2177	2181	STRAND		might get lost (downstream of altered splice site)
2182	2184	TURN		might get lost (downstream of altered splice site)
2186	2191	HELIX		might get lost (downstream of altered splice site)
2192	2206	HELIX		might get lost (downstream of altered splice site)
2224	2227	HELIX		might get lost (downstream of altered splice site)
2231	2333	DOMAIN	PH.	might get lost (downstream of altered splice site)
2232	2241	STRAND		might get lost (downstream of altered splice site)
2247	2260	STRAND		might get lost (downstream of altered splice site)
2263	2265	STRAND		might get lost (downstream of altered splice site)
2268	2270	STRAND		might get lost (downstream of altered splice site)
2275	2277	STRAND		might get lost (downstream of altered splice site)
2279	2285	STRAND		might get lost (downstream of altered splice site)
2287	2289	STRAND		might get lost (downstream of altered splice site)
2295	2301	STRAND		might get lost (downstream of altered splice site)
2304	2306	STRAND		might get lost (downstream of altered splice site)
2311	2314	STRAND		might get lost (downstream of altered splice site)
2318	2338	HELIX		might get lost (downstream of altered splice site)
2345	2381	COILED	Potential.	might get lost (downstream of altered splice site)
2398	2398	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2402	2402	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2488	2488	CONFLICT	D -> G (in Ref. 5; AAD21311).	might get lost (downstream of altered splice site)
2568	2683	COILED	Potential.	might get lost (downstream of altered splice site)
2667	2668	CONFLICT	QL -> HV (in Ref. 3; BAB62913 and 5; AAD21311).	might get lost (downstream of altered splice site)
2703	2703	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2709	2709	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2728	2728	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2778	2790	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8454 / 8454

position (AA) of stopcodon in wt / mu AA sequence

2818 / 2818

position of stopcodon in wt / mu cDNA

8535 / 8535

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

82 / 82

chromosome

strand

last intron/exon boundary

8486

theoretical NMD boundary in CDS

8354

length of CDS

8454

coding sequence (CDS) position

2534

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

2615

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

200032

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

86123833

original gDNA sequence snippet

GCCACTAGAAGACAGGGCAGTAGGCCTGTCCACATCCTCCA

altered gDNA sequence snippet

GCCACTAGAAGACAGGGCAGCAGGCCTGTCCACATCCTCCA

original cDNA sequence snippet

GCCACTAGAAGACAGGGCAGTAGGCCTGTCCACATCCTCCA

altered cDNA sequence snippet

GCCACTAGAAGACAGGGCAGCAGGCCTGTCCACATCCTCCA

wildtype AA sequence

MKLNPQQAPL YGDCVVTVLL AEEDKAEDDV VFYLVFLGST LRHCTSTRKV SSDTLETIAP
GHDCCETVKV QLCASKEGLP VFVVAEEDFH FVQDEAYDAA QFLATSAGNQ QALNFTRFLD
QSGPPSGDVN SLDKKLVLAF RHLKLPTEWN VLGTDQSLHD AGPRETLMHF AVRLGLLRLT
WFLLQKPGGR GALSIHNQEG ATPVSLALER GYHKLHQLLT EENAGEPDSW SSLSYEIPYG
DCSVRHHREL DIYTLTSESD SHHEHPFPGD GCTGPIFKLM NIQQQLMKTN LKQMDSLMPL
MMTAQDPSSA PETDGQFLPC APEPTDPQRL SSSEETESTQ CCPGSPVAQT ESPCDLSSIV
EEENTDRSCR KKNKGVERKG EEVEPAPIVD SGTVSDQDSC LQSLPDCGVK GTEGLSSCGN
RNEETGTKSS GMPTDQESLS SGDAVLQRDL VMEPGTAQYS SGGELGGIST TNVSTPDTAG
EMEHGLMNPD ATVWKNVLQG GESTKERFEN SNIGTAGASD VHVTSKPVDK ISVPNCAPAA
SSLDGNKPAE SSLAFSNEET STEKTAETET SRSREESADA PVDQNSVVIP AAAKDKISDG
LEPYTLLAAG IGEAMSPSDL ALLGLEEDVM PHQNSETNSS HAQSQKGKSS PICSTTGDDK
LCADSACQQN TVTSSGDLVA KLCDNIVSES ESTTARQPSS QDPPDASHCE DPQAHTVTSD
PVRDTQERAD FCPFKVVDNK GQRKDVKLDK PLTNMLEVVS HPHPVVPKME KELVPDQAVI
SDSTFSLANS PGSESVTKDD ALSFVPSQKE KGTATPELHT ATDYRDGPDG NSNEPDTRPL
EDRAVGLSTS STAAELQHGM GNTSLTGLGG EHEGPAPPAI PEALNIKGNT DSSLQSVGKA
TLALDSVLTE EGKLLVVSES SAAQEQDKDK AVTCSSIKEN ALSSGTLQEE QRTPPPGQDT
QQFHEKSISA DCAKDKALQL SNSPGASSAF LKAETEHNKE VAPQVSLLTQ GGAAQSLVPP
GASLATESRQ EALGAEHNSS ALLPCLLPDG SDGSDALNCS QPSPLDVGVK NTQSQGKTSA
CEVSGDVTVD VTGVNALQGM AEPRRENISH NTQDILIPNV LLSQEKNAVL GLPVALQDKA
VTDPQGVGTP EMIPLDWEKG KLEGADHSCT MGDAEEAQID DEAHPVLLQP VAKELPTDME
LSAHDDGAPA GVREVMRAPP SGRERSTPSL PCMVSAQDAP LPKGADLIEE AASRIVDAVI
EQVKAAGALL TEGEACHMSL SSPELGPLTK GLESAFTEKV STFPPGESLP MGSTPEEATG
SLAGCFAGRE EPEKIILPVQ GPEPAAEMPD VKAEDEVDFR ASSISEEVAV GSIAATLKMK
QGPMTQAINR ENWCTIEPCP DAASLLASKQ SPECENFLDV GLGRECTSKQ GVLKRESGSD
SDLFHSPSDD MDSIIFPKPE EEHLACDITG SSSSTDDTAS LDRHSSHGSD VSLSQILKPN
RSRDRQSLDG FYSHGMGAEG RESESEPADP GDVEEEEMDS ITEVPANCSV LRSSMRSLSP
FRRHSWGPGK NAASDAEMNH RSMSWCPSGV QYSAGLSADF NYRSFSLEGL TGGAGVGNKP
SSSLEVSSAN AEELRHPFSG EERVDSLVSL SEEDLESDQR EHRMFDQQIC HRSKQQGFNY
CTSAISSPLT KSISLMTISH PGLDNSRPFH STFHNTSANL TESITEENYN FLPHSPSKKD
SEWKSGTKVS RTFSYIKNKM SSSKKSKEKE KEKDKIKEKE KDSKDKEKDK KTVNGHTFSS
IPVVGPISCS QCMKPFTNKD AYTCANCSAF VHKGCRESLA SCAKVKMKQP KGSLQAHDTS
SLPTVIMRNK PSQPKERPRS AVLLVDETAT TPIFANRRSQ QSVSLSKSVS IQNITGVGND
ENMSNTWKFL SHSTDSLNKI SKVNESTESL TDEGVGTDMN EGQLLGDFEI ESKQLEAESW
SRIIDSKFLK QQKKDVVKRQ EVIYELMQTE FHHVRTLKIM SGVYSQGMMA DLLFEQQMVE
KLFPCLDELI SIHSQFFQRI LERKKESLVD KSEKNFLIKR IGDVLVNQFS GENAERLKKT
YGKFCGQHNQ SVNYFKDLYA KDKRFQAFVK KKMSSSVVRR LGIPECILLV TQRITKYPVL
FQRILQCTKD NEVEQEDLAQ SLSLVKDVIG AVDSKVASYE KKVRLNEIYT KTDSKSIMRM
KSGQMFAKED LKRKKLVRDG SVFLKNAAGR LKEVQAVLLT DILVFLQEKD QKYIFASLDQ
KSTVISLKKL IVREVAHEEK GLFLISMGMT DPEMVEVHAS SKEERNSWIQ IIQDTINTLN
RDEDEGIPSE NEEEKKMLDT RARELKEQLH QKDQKILLLL EEKEMIFRDM AECSTPLPED
CSPTHSPRVL FRSNTEEALK GGPLMKSAIN EVEILQGLVS GNLGGTLGPT VSSPIEQDVV
GPVSLPRRAE TFGGFDSHQM NASKGGEKEE GDDGQDLRRT ESDSGLKKGG NANLVFMLKR
NSEQVVQSVV HLYELLSALQ GVVLQQDSYI EDQKLVLSER ALTRSLSRPS SLIEQEKQRS
LEKQRQDLAN LQKQQAQYLE EKRRREREWE ARERELRERE ALLAQREEEV QQGQQDLEKE
REELQQKKGT YQYDLERLRA AQKQLEREQE QLRREAERLS QRQTERDLCQ VSHPHTKLMR
IPSFFPSPEE PPSPSAPSIA KSGSLDSELS VSPKRNSISR THKDKGPFHI LSSTSQTNKG
PEGQSQAPAS TSASTRLFGL TKPKEKKEKK KKNKTSRSQP GDGPASEVSA EGEEIFC*

mutated AA sequence

MKLNPQQAPL YGDCVVTVLL AEEDKAEDDV VFYLVFLGST LRHCTSTRKV SSDTLETIAP
GHDCCETVKV QLCASKEGLP VFVVAEEDFH FVQDEAYDAA QFLATSAGNQ QALNFTRFLD
QSGPPSGDVN SLDKKLVLAF RHLKLPTEWN VLGTDQSLHD AGPRETLMHF AVRLGLLRLT
WFLLQKPGGR GALSIHNQEG ATPVSLALER GYHKLHQLLT EENAGEPDSW SSLSYEIPYG
DCSVRHHREL DIYTLTSESD SHHEHPFPGD GCTGPIFKLM NIQQQLMKTN LKQMDSLMPL
MMTAQDPSSA PETDGQFLPC APEPTDPQRL SSSEETESTQ CCPGSPVAQT ESPCDLSSIV
EEENTDRSCR KKNKGVERKG EEVEPAPIVD SGTVSDQDSC LQSLPDCGVK GTEGLSSCGN
RNEETGTKSS GMPTDQESLS SGDAVLQRDL VMEPGTAQYS SGGELGGIST TNVSTPDTAG
EMEHGLMNPD ATVWKNVLQG GESTKERFEN SNIGTAGASD VHVTSKPVDK ISVPNCAPAA
SSLDGNKPAE SSLAFSNEET STEKTAETET SRSREESADA PVDQNSVVIP AAAKDKISDG
LEPYTLLAAG IGEAMSPSDL ALLGLEEDVM PHQNSETNSS HAQSQKGKSS PICSTTGDDK
LCADSACQQN TVTSSGDLVA KLCDNIVSES ESTTARQPSS QDPPDASHCE DPQAHTVTSD
PVRDTQERAD FCPFKVVDNK GQRKDVKLDK PLTNMLEVVS HPHPVVPKME KELVPDQAVI
SDSTFSLANS PGSESVTKDD ALSFVPSQKE KGTATPELHT ATDYRDGPDG NSNEPDTRPL
EDRAAGLSTS STAAELQHGM GNTSLTGLGG EHEGPAPPAI PEALNIKGNT DSSLQSVGKA
TLALDSVLTE EGKLLVVSES SAAQEQDKDK AVTCSSIKEN ALSSGTLQEE QRTPPPGQDT
QQFHEKSISA DCAKDKALQL SNSPGASSAF LKAETEHNKE VAPQVSLLTQ GGAAQSLVPP
GASLATESRQ EALGAEHNSS ALLPCLLPDG SDGSDALNCS QPSPLDVGVK NTQSQGKTSA
CEVSGDVTVD VTGVNALQGM AEPRRENISH NTQDILIPNV LLSQEKNAVL GLPVALQDKA
VTDPQGVGTP EMIPLDWEKG KLEGADHSCT MGDAEEAQID DEAHPVLLQP VAKELPTDME
LSAHDDGAPA GVREVMRAPP SGRERSTPSL PCMVSAQDAP LPKGADLIEE AASRIVDAVI
EQVKAAGALL TEGEACHMSL SSPELGPLTK GLESAFTEKV STFPPGESLP MGSTPEEATG
SLAGCFAGRE EPEKIILPVQ GPEPAAEMPD VKAEDEVDFR ASSISEEVAV GSIAATLKMK
QGPMTQAINR ENWCTIEPCP DAASLLASKQ SPECENFLDV GLGRECTSKQ GVLKRESGSD
SDLFHSPSDD MDSIIFPKPE EEHLACDITG SSSSTDDTAS LDRHSSHGSD VSLSQILKPN
RSRDRQSLDG FYSHGMGAEG RESESEPADP GDVEEEEMDS ITEVPANCSV LRSSMRSLSP
FRRHSWGPGK NAASDAEMNH RSMSWCPSGV QYSAGLSADF NYRSFSLEGL TGGAGVGNKP
SSSLEVSSAN AEELRHPFSG EERVDSLVSL SEEDLESDQR EHRMFDQQIC HRSKQQGFNY
CTSAISSPLT KSISLMTISH PGLDNSRPFH STFHNTSANL TESITEENYN FLPHSPSKKD
SEWKSGTKVS RTFSYIKNKM SSSKKSKEKE KEKDKIKEKE KDSKDKEKDK KTVNGHTFSS
IPVVGPISCS QCMKPFTNKD AYTCANCSAF VHKGCRESLA SCAKVKMKQP KGSLQAHDTS
SLPTVIMRNK PSQPKERPRS AVLLVDETAT TPIFANRRSQ QSVSLSKSVS IQNITGVGND
ENMSNTWKFL SHSTDSLNKI SKVNESTESL TDEGVGTDMN EGQLLGDFEI ESKQLEAESW
SRIIDSKFLK QQKKDVVKRQ EVIYELMQTE FHHVRTLKIM SGVYSQGMMA DLLFEQQMVE
KLFPCLDELI SIHSQFFQRI LERKKESLVD KSEKNFLIKR IGDVLVNQFS GENAERLKKT
YGKFCGQHNQ SVNYFKDLYA KDKRFQAFVK KKMSSSVVRR LGIPECILLV TQRITKYPVL
FQRILQCTKD NEVEQEDLAQ SLSLVKDVIG AVDSKVASYE KKVRLNEIYT KTDSKSIMRM
KSGQMFAKED LKRKKLVRDG SVFLKNAAGR LKEVQAVLLT DILVFLQEKD QKYIFASLDQ
KSTVISLKKL IVREVAHEEK GLFLISMGMT DPEMVEVHAS SKEERNSWIQ IIQDTINTLN
RDEDEGIPSE NEEEKKMLDT RARELKEQLH QKDQKILLLL EEKEMIFRDM AECSTPLPED
CSPTHSPRVL FRSNTEEALK GGPLMKSAIN EVEILQGLVS GNLGGTLGPT VSSPIEQDVV
GPVSLPRRAE TFGGFDSHQM NASKGGEKEE GDDGQDLRRT ESDSGLKKGG NANLVFMLKR
NSEQVVQSVV HLYELLSALQ GVVLQQDSYI EDQKLVLSER ALTRSLSRPS SLIEQEKQRS
LEKQRQDLAN LQKQQAQYLE EKRRREREWE ARERELRERE ALLAQREEEV QQGQQDLEKE
REELQQKKGT YQYDLERLRA AQKQLEREQE QLRREAERLS QRQTERDLCQ VSHPHTKLMR
IPSFFPSPEE PPSPSAPSIA KSGSLDSELS VSPKRNSISR THKDKGPFHI LSSTSQTNKG
PEGQSQAPAS TSASTRLFGL TKPKEKKEKK KKNKTSRSQP GDGPASEVSA EGEEIFC*

speed

0.35 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