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 ENST00000434623
Genbank transcript ID NM_001198656
UniProt peptide Q9Y2D5
alteration type single base exchange
alteration region CDS
DNA changes c.1949T>C
cDNA.2051T>C
g.357431T>C
AA changes L650S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 650
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      650YSPSSTLGDSPLVDDPLEYQAGLL
mutated  not conserved    650YSPSSTLGDSPSVDDPLEYQAG
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000002361  780YSPSSTLGDSPSVDDPLEYQAGL
Fcatus  no alignment  ENSFCAG00000004456  n/a
Mmusculus  not conserved  ENSMUSG00000038729  622YSPSSTLGDSPSVDDPLEYQAGL
Ggallus  all conserved  ENSGALG00000015656  553DSLSSALAESMMIDNQLEYHAGL
Trubripes  no alignment  ENSTRUG00000006899  n/a
Drerio  all identical  ENSDARG00000069608  966-GDG-LTEEELEYHAGI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000002238  576IDDHLDPLDYHAGI
protein features
start (aa)end (aa)featuredetails 
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 2886 / 2886
position (AA) of stopcodon in wt / mu AA sequence 962 / 962
position of stopcodon in wt / mu cDNA 2988 / 2988
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 103 / 103
chromosome 9
strand 1
last intron/exon boundary 2890
theoretical NMD boundary in CDS 2737
length of CDS 2886
coding sequence (CDS) position 1949
cDNA position
(for ins/del: last normal base / first normal base)		 2051
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 MRWPQPGAAA RLPPESPGPP ESPGPPEREA AAARRWTGAE PQDCAPGSGR PEKPPQLSED
DIWLKSEGDN YSATLLEPAA SSLSPDHKNM EIEVSVAECK SVPGITSTPH PMDHPSAFYS
PPHNGLLTDH HESLDNDVAR EIRYLDEVLE ANCCDSAVDG TYNGTSSPEP GAVVLVGGLS
PPVHEATQPE PTERTASRQA PPHIELSNSS PDPMAEAERT NGHSPSQPRD ALGDSLQVPV
SPSSTTSSRC SSRDGEFTLT TLKKEAKFEL RAFHEDKKPS KLFEDDEHEK EQYCIRKVRP
SEEMLELEKE RRELIRSQAV KKNPGIAAKW WNPPQEKTIE EQLDEEHLES HKKYKERKER
RAQQEQLLLQ KQLQQQQQQP PSQLCTAPAS SHERASMIDK AKEDIVTEQI DFSAARKQFQ
LMENSRQAVA KGQSTPRLFS IKPFYRPLGS VNSDKPLTNP RPPSVGGPPE DSGASAAKGQ
KSPGALETPS AAGSQGNTAS QGKEGPYSEP SKRGPLSKLW AEDGEFTSAR AVLTVVKDDD
HGILDQFSRS VNVSLTQEEL DSGLDELSVR SQDTTVLETL SNDFSMDNIS DSGASNETTN
ALQENSLADF SLPQTPQTDN PSEGRGEGVS KSFSDHGFYS PSSTLGDSPL VDDPLEYQAG
LLVQNAIQQA IAEQVDKAVS KTSRDGAEQQ GPEATVEEAE AAAFGSEKPQ SMFEPPQVSS
PVQEKRDVLP KILPAEDRAL RERGPPQPLP AVQPSGPINM EETRPEGSYF SKYSEAAELR
STASLLATQE SDVMVGPFKL RSRKQRTLSM IEEEIRAAQE REEELKRQRQ VLQSTQSPRT
KNAPSLPSRT CYKTAPGKIE KVKPPPSPTT EGPSLQPDLA PEEAAGTQRP KNLMQTLMED
YETHKSKRRE RMDDSSYTSK LLSCKVTSEV LEATRVNRRK SALALRWEAG IYANQEEEDN
E*
mutated AA sequence MRWPQPGAAA RLPPESPGPP ESPGPPEREA AAARRWTGAE PQDCAPGSGR PEKPPQLSED
DIWLKSEGDN YSATLLEPAA SSLSPDHKNM EIEVSVAECK SVPGITSTPH PMDHPSAFYS
PPHNGLLTDH HESLDNDVAR EIRYLDEVLE ANCCDSAVDG TYNGTSSPEP GAVVLVGGLS
PPVHEATQPE PTERTASRQA PPHIELSNSS PDPMAEAERT NGHSPSQPRD ALGDSLQVPV
SPSSTTSSRC SSRDGEFTLT TLKKEAKFEL RAFHEDKKPS KLFEDDEHEK EQYCIRKVRP
SEEMLELEKE RRELIRSQAV KKNPGIAAKW WNPPQEKTIE EQLDEEHLES HKKYKERKER
RAQQEQLLLQ KQLQQQQQQP PSQLCTAPAS SHERASMIDK AKEDIVTEQI DFSAARKQFQ
LMENSRQAVA KGQSTPRLFS IKPFYRPLGS VNSDKPLTNP RPPSVGGPPE DSGASAAKGQ
KSPGALETPS AAGSQGNTAS QGKEGPYSEP SKRGPLSKLW AEDGEFTSAR AVLTVVKDDD
HGILDQFSRS VNVSLTQEEL DSGLDELSVR SQDTTVLETL SNDFSMDNIS DSGASNETTN
ALQENSLADF SLPQTPQTDN PSEGRGEGVS KSFSDHGFYS PSSTLGDSPS VDDPLEYQAG
LLVQNAIQQA IAEQVDKAVS KTSRDGAEQQ GPEATVEEAE AAAFGSEKPQ SMFEPPQVSS
PVQEKRDVLP KILPAEDRAL RERGPPQPLP AVQPSGPINM EETRPEGSYF SKYSEAAELR
STASLLATQE SDVMVGPFKL RSRKQRTLSM IEEEIRAAQE REEELKRQRQ VLQSTQSPRT
KNAPSLPSRT CYKTAPGKIE KVKPPPSPTT EGPSLQPDLA PEEAAGTQRP KNLMQTLMED
YETHKSKRRE RMDDSSYTSK LLSCKVTSEV LEATRVNRRK SALALRWEAG IYANQEEEDN
E*
speed 1.09 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