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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000394518
Querying Taster for transcript #2: ENST00000361243
MT speed 0 s - this script 5.607029 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AKAP13polymorphism_automatic9.99200722162641e-16simple_aaeaffectedD1086Nsingle base exchangers4843075show file
AKAP13polymorphism_automatic9.99200722162641e-16simple_aaeaffectedD1086Nsingle base exchangers4843075show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

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) chr15:86124555G>AN/A show variant in all transcripts   IGV
HGNC symbol AKAP13
Ensembl transcript ID ENST00000394518
Genbank transcript ID NM_001270546
UniProt peptide Q12802
alteration type single base exchange
alteration region CDS
DNA changes c.3256G>A
cDNA.3351G>A
g.200754G>A
AA changes D1086N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1086
frameshift no
known variant Reference ID: rs4843075
databasehomozygous (A/A)heterozygousallele carriers
1000G86211872049
ExAC22836-129059931
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AK5ac, Histone, Histone 2A Lysine 5 Acetylation
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36ac, Histone, Histone 3 Lysine 36 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
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5210.002
-0.2580.001
(flanking)0.640.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased200756wt: 0.85 / mu: 0.98wt: GGAGATGTGACGGTG
mu: GGAAATGTGACGGTG
 AGAT|gtga
distance from splice site 784
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1086QGKTSACEVSGDVTVDVTGVNALQ
mutated  all conserved    1086CEVSGNVTVDVTGVNAL
Ptroglodytes  all conserved  ENSPTRG00000007414  1082CEVSGNVTVDVTGVNAL
Mmulatta  not conserved  ENSMMUG00000011251  1074---SEALNCSQPSPLDV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000066406  1066GETNACEVSRSAMEDVTVADAS
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)featuredetails 
12511251MUTAGENA->P: Loss of PKA anchoring; when associated with P-1260.might get lost (downstream of altered splice site)
12601260MUTAGENI->P: Loss of PKA anchoring; when associated with P-1251.might get lost (downstream of altered splice site)
12651265MUTAGENA->P: Abolishes RII-binding.might get lost (downstream of altered splice site)
13851387CONFLICTTQA -> MLY (in Ref. 5; AAD21311).might get lost (downstream of altered splice site)
14711474COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
15341537COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
15471547CONFLICTN -> H (in Ref. 10; BAD92651).might get lost (downstream of altered splice site)
15591559MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421642MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16451645MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16471647MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17581790COILEDPotential.might get lost (downstream of altered splice site)
17661768CONFLICTEKE -> KKK (in Ref. 9; AAA58670).might get lost (downstream of altered splice site)
17911838ZN_FINGPhorbol-ester/DAG-type.might get lost (downstream of altered splice site)
18761876MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18771877CONFLICTA -> G (in Ref. 6; AAD40799).might get lost (downstream of altered splice site)
18951895MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18971897CONFLICTQ -> E (in Ref. 6; AAD40799).might get lost (downstream of altered splice site)
19192813REGIONInteraction with ESR1.might get lost (downstream of altered splice site)
19291929MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19321932MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19942191DOMAINDH.might get lost (downstream of altered splice site)
20352035CONFLICTV -> D (in Ref. 5; AAD21311).might get lost (downstream of altered splice site)
21532153MUTAGENY->F: Loss of interaction with RHOA.might get lost (downstream of altered splice site)
21662168TURNmight get lost (downstream of altered splice site)
21772181STRANDmight get lost (downstream of altered splice site)
21822184TURNmight get lost (downstream of altered splice site)
21862191HELIXmight get lost (downstream of altered splice site)
21922206HELIXmight get lost (downstream of altered splice site)
22242227HELIXmight get lost (downstream of altered splice site)
22312333DOMAINPH.might get lost (downstream of altered splice site)
22322241STRANDmight get lost (downstream of altered splice site)
22472260STRANDmight get lost (downstream of altered splice site)
22632265STRANDmight get lost (downstream of altered splice site)
22682270STRANDmight get lost (downstream of altered splice site)
22752277STRANDmight get lost (downstream of altered splice site)
22792285STRANDmight get lost (downstream of altered splice site)
22872289STRANDmight get lost (downstream of altered splice site)
22952301STRANDmight get lost (downstream of altered splice site)
23042306STRANDmight get lost (downstream of altered splice site)
23112314STRANDmight get lost (downstream of altered splice site)
23182338HELIXmight get lost (downstream of altered splice site)
23452381COILEDPotential.might get lost (downstream of altered splice site)
23982398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24022402MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24882488CONFLICTD -> G (in Ref. 5; AAD21311).might get lost (downstream of altered splice site)
25682683COILEDPotential.might get lost (downstream of altered splice site)
26672668CONFLICTQL -> HV (in Ref. 3; BAB62913 and 5; AAD21311).might get lost (downstream of altered splice site)
27032703MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27092709MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27282728MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27782790COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8442 / 8442
position (AA) of stopcodon in wt / mu AA sequence 2814 / 2814
position of stopcodon in wt / mu cDNA 8537 / 8537
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 96 / 96
chromosome 15
strand 1
last intron/exon boundary 8488
theoretical NMD boundary in CDS 8342
length of CDS 8442
coding sequence (CDS) position 3256
cDNA position
(for ins/del: last normal base / first normal base)
3351
gDNA position
(for ins/del: last normal base / first normal base)
200754
chromosomal position
(for ins/del: last normal base / first normal base)
86124555
original gDNA sequence snippet GTGCCTGTGAGGTGAGTGGAGATGTGACGGTGGATGTTACA
altered gDNA sequence snippet GTGCCTGTGAGGTGAGTGGAAATGTGACGGTGGATGTTACA
original cDNA sequence snippet GTGCCTGTGAGGTGAGTGGAGATGTGACGGTGGATGTTACA
altered cDNA sequence snippet GTGCCTGTGAGGTGAGTGGAAATGTGACGGTGGATGTTACA
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 RSSMRVLGDV VRRPPIHRRS FSLEGLTGGA GVGNKPSSSL
EVSSANAEEL RHPFSGEERV DSLVSLSEED LESDQREHRM FDQQICHRSK QQGFNYCTSA
ISSPLTKSIS LMTISHPGLD NSRPFHSTFH NTSANLTESI TEENYNFLPH SPSKKDSEWK
SGTKVSRTFS YIKNKMSSSK KSKEKEKEKD KIKEKEKDSK DKEKDKKTVN GHTFSSIPVV
GPISCSQCMK PFTNKDAYTC ANCSAFVHKG CRESLASCAK VKMKQPKGSL QAHDTSSLPT
VIMRNKPSQP KERPRSAVLL VDETATTPIF ANRRSQQSVS LSKSVSIQNI TGVGNDENMS
NTWKFLSHST DSLNKISKVN ESTESLTDEG VGTDMNEGQL LGDFEIESKQ LEAESWSRII
DSKFLKQQKK DVVKRQEVIY ELMQTEFHHV RTLKIMSGVY SQGMMADLLF EQQMVEKLFP
CLDELISIHS QFFQRILERK KESLVDKSEK NFLIKRIGDV LVNQFSGENA ERLKKTYGKF
CGQHNQSVNY FKDLYAKDKR FQAFVKKKMS SSVVRRLGIP ECILLVTQRI TKYPVLFQRI
LQCTKDNEVE QEDLAQSLSL VKDVIGAVDS KVASYEKKVR LNEIYTKTDS KSIMRMKSGQ
MFAKEDLKRK KLVRDGSVFL KNAAGRLKEV QAVLLTDILV FLQEKDQKYI FASLDQKSTV
ISLKKLIVRE VAHEEKGLFL ISMGMTDPEM VEVHASSKEE RNSWIQIIQD TINTLNRDED
EGIPSENEEE KKMLDTRARE LKEQLHQKDQ KILLLLEEKE MIFRDMAECS TPLPEDCSPT
HSPRVLFRSN TEEALKGGPL MKSAINEVEI LQGLVSGNLG GTLGPTVSSP IEQDVVGPVS
LPRRAETFGG FDSHQMNASK GGEKEEGDDG QDLRRTESDS GLKKGGNANL VFMLKRNSEQ
VVQSVVHLYE LLSALQGVVL QQDSYIEDQK LVLSERALTR SLSRPSSLIE QEKQRSLEKQ
RQDLANLQKQ QAQYLEEKRR REREWEARER ELREREALLA QREEEVQQGQ QDLEKEREEL
QQKKGTYQYD LERLRAAQKQ LEREQEQLRR EAERLSQRQT ERDLCQVSHP HTKLMRIPSF
FPSPEEPPSP SAPSIAKSGS LDSELSVSPK RNSISRTHKD KGPFHILSST SQTNKGPEGQ
SQAPASTSAS TRLFGLTKPK EKKEKKKKNK TSRSQPGDGP ASEVSAEGEE IFC*
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
EDRAVGLSTS STAAELQHGM GNTSLTGLGG EHEGPAPPAI PEALNIKGNT DSSLQSVGKA
TLALDSVLTE EGKLLVVSES SAAQEQDKDK AVTCSSIKEN ALSSGTLQEE QRTPPPGQDT
QQFHEKSISA DCAKDKALQL SNSPGASSAF LKAETEHNKE VAPQVSLLTQ GGAAQSLVPP
GASLATESRQ EALGAEHNSS ALLPCLLPDG SDGSDALNCS QPSPLDVGVK NTQSQGKTSA
CEVSGNVTVD 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 RSSMRVLGDV VRRPPIHRRS FSLEGLTGGA GVGNKPSSSL
EVSSANAEEL RHPFSGEERV DSLVSLSEED LESDQREHRM FDQQICHRSK QQGFNYCTSA
ISSPLTKSIS LMTISHPGLD NSRPFHSTFH NTSANLTESI TEENYNFLPH SPSKKDSEWK
SGTKVSRTFS YIKNKMSSSK KSKEKEKEKD KIKEKEKDSK DKEKDKKTVN GHTFSSIPVV
GPISCSQCMK PFTNKDAYTC ANCSAFVHKG CRESLASCAK VKMKQPKGSL QAHDTSSLPT
VIMRNKPSQP KERPRSAVLL VDETATTPIF ANRRSQQSVS LSKSVSIQNI TGVGNDENMS
NTWKFLSHST DSLNKISKVN ESTESLTDEG VGTDMNEGQL LGDFEIESKQ LEAESWSRII
DSKFLKQQKK DVVKRQEVIY ELMQTEFHHV RTLKIMSGVY SQGMMADLLF EQQMVEKLFP
CLDELISIHS QFFQRILERK KESLVDKSEK NFLIKRIGDV LVNQFSGENA ERLKKTYGKF
CGQHNQSVNY FKDLYAKDKR FQAFVKKKMS SSVVRRLGIP ECILLVTQRI TKYPVLFQRI
LQCTKDNEVE QEDLAQSLSL VKDVIGAVDS KVASYEKKVR LNEIYTKTDS KSIMRMKSGQ
MFAKEDLKRK KLVRDGSVFL KNAAGRLKEV QAVLLTDILV FLQEKDQKYI FASLDQKSTV
ISLKKLIVRE VAHEEKGLFL ISMGMTDPEM VEVHASSKEE RNSWIQIIQD TINTLNRDED
EGIPSENEEE KKMLDTRARE LKEQLHQKDQ KILLLLEEKE MIFRDMAECS TPLPEDCSPT
HSPRVLFRSN TEEALKGGPL MKSAINEVEI LQGLVSGNLG GTLGPTVSSP IEQDVVGPVS
LPRRAETFGG FDSHQMNASK GGEKEEGDDG QDLRRTESDS GLKKGGNANL VFMLKRNSEQ
VVQSVVHLYE LLSALQGVVL QQDSYIEDQK LVLSERALTR SLSRPSSLIE QEKQRSLEKQ
RQDLANLQKQ QAQYLEEKRR REREWEARER ELREREALLA QREEEVQQGQ QDLEKEREEL
QQKKGTYQYD LERLRAAQKQ LEREQEQLRR EAERLSQRQT ERDLCQVSHP HTKLMRIPSF
FPSPEEPPSP SAPSIAKSGS LDSELSVSPK RNSISRTHKD KGPFHILSST SQTNKGPEGQ
SQAPASTSAS TRLFGLTKPK EKKEKKKKNK TSRSQPGDGP ASEVSAEGEE IFC*
speed 1.38 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: 0.999999999999999 (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) chr15:86124555G>AN/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.3256G>A
cDNA.3337G>A
g.200754G>A
AA changes D1086N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1086
frameshift no
known variant Reference ID: rs4843075
databasehomozygous (A/A)heterozygousallele carriers
1000G86211872049
ExAC22836-129059931
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AK5ac, Histone, Histone 2A Lysine 5 Acetylation
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36ac, Histone, Histone 3 Lysine 36 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
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5210.002
-0.2580.001
(flanking)0.640.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased200756wt: 0.85 / mu: 0.98wt: GGAGATGTGACGGTG
mu: GGAAATGTGACGGTG
 AGAT|gtga
distance from splice site 784
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1086QGKTSACEVSGDVTVDVTGVNALQ
mutated  all conserved    1086CEVSGNVTVDVTGVNAL
Ptroglodytes  all conserved  ENSPTRG00000007414  1082CEVSGNVTVDVTGVNAL
Mmulatta  not conserved  ENSMMUG00000011251  1074---SEALNCSQPSPLDV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000066406  1066GETNACEVSRSAMEDVTVADAS
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)featuredetails 
12511251MUTAGENA->P: Loss of PKA anchoring; when associated with P-1260.might get lost (downstream of altered splice site)
12601260MUTAGENI->P: Loss of PKA anchoring; when associated with P-1251.might get lost (downstream of altered splice site)
12651265MUTAGENA->P: Abolishes RII-binding.might get lost (downstream of altered splice site)
13851387CONFLICTTQA -> MLY (in Ref. 5; AAD21311).might get lost (downstream of altered splice site)
14711474COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
15341537COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
15471547CONFLICTN -> H (in Ref. 10; BAD92651).might get lost (downstream of altered splice site)
15591559MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421642MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16451645MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16471647MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17581790COILEDPotential.might get lost (downstream of altered splice site)
17661768CONFLICTEKE -> KKK (in Ref. 9; AAA58670).might get lost (downstream of altered splice site)
17911838ZN_FINGPhorbol-ester/DAG-type.might get lost (downstream of altered splice site)
18761876MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18771877CONFLICTA -> G (in Ref. 6; AAD40799).might get lost (downstream of altered splice site)
18951895MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18971897CONFLICTQ -> E (in Ref. 6; AAD40799).might get lost (downstream of altered splice site)
19192813REGIONInteraction with ESR1.might get lost (downstream of altered splice site)
19291929MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19321932MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19942191DOMAINDH.might get lost (downstream of altered splice site)
20352035CONFLICTV -> D (in Ref. 5; AAD21311).might get lost (downstream of altered splice site)
21532153MUTAGENY->F: Loss of interaction with RHOA.might get lost (downstream of altered splice site)
21662168TURNmight get lost (downstream of altered splice site)
21772181STRANDmight get lost (downstream of altered splice site)
21822184TURNmight get lost (downstream of altered splice site)
21862191HELIXmight get lost (downstream of altered splice site)
21922206HELIXmight get lost (downstream of altered splice site)
22242227HELIXmight get lost (downstream of altered splice site)
22312333DOMAINPH.might get lost (downstream of altered splice site)
22322241STRANDmight get lost (downstream of altered splice site)
22472260STRANDmight get lost (downstream of altered splice site)
22632265STRANDmight get lost (downstream of altered splice site)
22682270STRANDmight get lost (downstream of altered splice site)
22752277STRANDmight get lost (downstream of altered splice site)
22792285STRANDmight get lost (downstream of altered splice site)
22872289STRANDmight get lost (downstream of altered splice site)
22952301STRANDmight get lost (downstream of altered splice site)
23042306STRANDmight get lost (downstream of altered splice site)
23112314STRANDmight get lost (downstream of altered splice site)
23182338HELIXmight get lost (downstream of altered splice site)
23452381COILEDPotential.might get lost (downstream of altered splice site)
23982398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24022402MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24882488CONFLICTD -> G (in Ref. 5; AAD21311).might get lost (downstream of altered splice site)
25682683COILEDPotential.might get lost (downstream of altered splice site)
26672668CONFLICTQL -> HV (in Ref. 3; BAB62913 and 5; AAD21311).might get lost (downstream of altered splice site)
27032703MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27092709MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27282728MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27782790COMPBIASPoly-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 15
strand 1
last intron/exon boundary 8486
theoretical NMD boundary in CDS 8354
length of CDS 8454
coding sequence (CDS) position 3256
cDNA position
(for ins/del: last normal base / first normal base)
3337
gDNA position
(for ins/del: last normal base / first normal base)
200754
chromosomal position
(for ins/del: last normal base / first normal base)
86124555
original gDNA sequence snippet GTGCCTGTGAGGTGAGTGGAGATGTGACGGTGGATGTTACA
altered gDNA sequence snippet GTGCCTGTGAGGTGAGTGGAAATGTGACGGTGGATGTTACA
original cDNA sequence snippet GTGCCTGTGAGGTGAGTGGAGATGTGACGGTGGATGTTACA
altered cDNA sequence snippet GTGCCTGTGAGGTGAGTGGAAATGTGACGGTGGATGTTACA
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
EDRAVGLSTS STAAELQHGM GNTSLTGLGG EHEGPAPPAI PEALNIKGNT DSSLQSVGKA
TLALDSVLTE EGKLLVVSES SAAQEQDKDK AVTCSSIKEN ALSSGTLQEE QRTPPPGQDT
QQFHEKSISA DCAKDKALQL SNSPGASSAF LKAETEHNKE VAPQVSLLTQ GGAAQSLVPP
GASLATESRQ EALGAEHNSS ALLPCLLPDG SDGSDALNCS QPSPLDVGVK NTQSQGKTSA
CEVSGNVTVD 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 1.52 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