Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999996949 (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) chr9:112900199T>CN/A show variant in all transcripts   IGV
HGNC symbol AKAP2
Ensembl transcript ID ENST00000259318
Genbank transcript ID NM_001136562
UniProt peptide Q9Y2D5
alteration type single base exchange
alteration region CDS
DNA changes c.1682T>C
cDNA.1889T>C
g.357431T>C
AA changes L561S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 561
frameshift no
known variant Reference ID: rs914358
databasehomozygous (C/C)heterozygousallele carriers
1000G54711881735
ExAC13520572719247
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6670.001
1.1610.002
(flanking)-2.5130
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased357432wt: 0.7363 / mu: 0.7626 (marginal change - not scored)wt: ACGCTGGGGGACTCTCCGTTGGTTGATGACCCCTTGGAGTA
mu: ACGCTGGGGGACTCTCCGTCGGTTGATGACCCCTTGGAGTA		 gttg|GTTG
Donor increased357433wt: 0.24 / mu: 0.27wt: CGTTGGTTGATGACC
mu: CGTCGGTTGATGACC		 TTGG|ttga
distance from splice site 621
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      561YSPSSTLGDSPLVDDPLEYQAGLL
mutated  not conserved    561YSPSSTLGDSPSVDDPLEYQAGL
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000002361  780YSPSSTLGDSPSVDDPLEYQAGL
Fcatus  no alignment  ENSFCAG00000004456  n/a
Mmusculus  not conserved  ENSMUSG00000038729  623YSPSSTLGDSPSVDDPLEYQAGL
Ggallus  all conserved  ENSGALG00000015656  553DSLSSALAESMMIDNQLEYHAGL
Trubripes  no alignment  ENSTRUG00000006899  n/a
Drerio  all identical  ENSDARG00000069608  969YQ-----GDG-LTEEELEYHAGI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000002238  578YSPSSMLHDIDDHLDPLDYHAGI
protein features
start (aa)end (aa)featuredetails 
566579REGIONPKA-RII subunit binding domain.might get lost (downstream of altered splice site)
631631MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
647647CONFLICTE -> G (in Ref. 7; CAB53707).might get lost (downstream of altered splice site)
651651CONFLICTL -> P (in Ref. 3; BAG51862).might get lost (downstream of altered splice site)
710748COILEDPotential.might get lost (downstream of altered splice site)
719719CONFLICTL -> S (in Ref. 3; BAG51862).might get lost (downstream of altered splice site)
720720MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
748748MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
778778MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2580 / 2580
position (AA) of stopcodon in wt / mu AA sequence 860 / 860
position of stopcodon in wt / mu cDNA 2787 / 2787
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 208 / 208
chromosome 9
strand 1
last intron/exon boundary 2689
theoretical NMD boundary in CDS 2431
length of CDS 2580
coding sequence (CDS) position 1682
cDNA position
(for ins/del: last normal base / first normal base)		 1889
gDNA position
(for ins/del: last normal base / first normal base)		 357431
chromosomal position
(for ins/del: last normal base / first normal base)		 112900199
original gDNA sequence snippet CACGCTGGGGGACTCTCCGTTGGTTGATGACCCCTTGGAGT
altered gDNA sequence snippet CACGCTGGGGGACTCTCCGTCGGTTGATGACCCCTTGGAGT
original cDNA sequence snippet CACGCTGGGGGACTCTCCGTTGGTTGATGACCCCTTGGAGT
altered cDNA sequence snippet CACGCTGGGGGACTCTCCGTCGGTTGATGACCCCTTGGAGT
wildtype AA sequence MEIEVSVAEC KSVPGITSTP HPMDHPSAFY SPPHNGLLTD HHESLDNDVA REIRYLDEVL
EANCCDSAVD GTYNGTSSPE PGAVVLVGGL SPPVHEATQP EPTERTASRQ APPHIELSNS
SPDPMAEAER TNGHSPSQPR DALGDSLQVP VSPSSTTSSR CSSRDGEFTL TTLKKEAKFE
LRAFHEDKKP SKLFEDDEHE KEQYCIRKVR PSEEMLELEK ERRELIRSQA VKKNPGIAAK
WWNPPQEKTI EEQLDEEHLE SHKKYKERKE RRAQQEQLLL QKQLQQQQQQ PPSQLCTAPA
SSHERASMID KAKEDIVTEQ IDFSAARKQF QLMENSRQAV AKGQSTPRLF SIKPFYRPLG
SVNSDKPLTN PRPPSVGGPP EDSGASAAKG QKSPGALETP SAAGSQGNTA SQGKEGPYSE
PSKRGPLSKL WAEDGEFTSA RAVLTVVKDD DHGILDQFSR SVNVSLTQEE LDSGLDELSV
RSQDTTVLET LSNDFSMDNI SDSGASNETT NALQENSLAD FSLPQTPQTD NPSEGRGEGV
SKSFSDHGFY SPSSTLGDSP LVDDPLEYQA GLLVQNAIQQ AIAEQVDKAV SKTSRDGAEQ
QGPEATVEEA EAAAFGSEKP QSMFEPPQVS SPVQEKRDVL PKILPAEDRA LRERGPPQPL
PAVQPSGPIN MEETRPEGSY FSKYSEAAEL RSTASLLATQ ESDVMVGPFK LRSRKQRTLS
MIEEEIRAAQ EREEELKRQR QVLQSTQSPR TKNAPSLPSR TCYKTAPGKI EKVKPPPSPT
TEGPSLQPDL APEEAAGTQR PKNLMQTLME DYETHKSKRR ERMDDSSVLE ATRVNRRKSA
LALRWEAGIY ANQEEEDNE*
mutated AA sequence MEIEVSVAEC KSVPGITSTP HPMDHPSAFY SPPHNGLLTD HHESLDNDVA REIRYLDEVL
EANCCDSAVD GTYNGTSSPE PGAVVLVGGL SPPVHEATQP EPTERTASRQ APPHIELSNS
SPDPMAEAER TNGHSPSQPR DALGDSLQVP VSPSSTTSSR CSSRDGEFTL TTLKKEAKFE
LRAFHEDKKP SKLFEDDEHE KEQYCIRKVR PSEEMLELEK ERRELIRSQA VKKNPGIAAK
WWNPPQEKTI EEQLDEEHLE SHKKYKERKE RRAQQEQLLL QKQLQQQQQQ PPSQLCTAPA
SSHERASMID KAKEDIVTEQ IDFSAARKQF QLMENSRQAV AKGQSTPRLF SIKPFYRPLG
SVNSDKPLTN PRPPSVGGPP EDSGASAAKG QKSPGALETP SAAGSQGNTA SQGKEGPYSE
PSKRGPLSKL WAEDGEFTSA RAVLTVVKDD DHGILDQFSR SVNVSLTQEE LDSGLDELSV
RSQDTTVLET LSNDFSMDNI SDSGASNETT NALQENSLAD FSLPQTPQTD NPSEGRGEGV
SKSFSDHGFY SPSSTLGDSP SVDDPLEYQA GLLVQNAIQQ AIAEQVDKAV SKTSRDGAEQ
QGPEATVEEA EAAAFGSEKP QSMFEPPQVS SPVQEKRDVL PKILPAEDRA LRERGPPQPL
PAVQPSGPIN MEETRPEGSY FSKYSEAAEL RSTASLLATQ ESDVMVGPFK LRSRKQRTLS
MIEEEIRAAQ EREEELKRQR QVLQSTQSPR TKNAPSLPSR TCYKTAPGKI EKVKPPPSPT
TEGPSLQPDL APEEAAGTQR PKNLMQTLME DYETHKSKRR ERMDDSSVLE ATRVNRRKSA
LALRWEAGIY ANQEEEDNE*
speed 1.26 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