Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999990529 (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) chr15:86287867G>AN/A show variant in all transcripts   IGV
HGNC symbol AKAP13
Ensembl transcript ID ENST00000394510
Genbank transcript ID NM_144767
UniProt peptide Q12802
alteration type single base exchange
alteration region CDS
DNA changes c.3136G>A
cDNA.3362G>A
g.364066G>A
AA changes A1046T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1046
frameshift no
known variant Reference ID: rs2614668
databasehomozygous (A/A)heterozygousallele carriers
1000G111722833
ExAC14261281514241
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2530.025
0.3930.015
(flanking)0.7590.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc decreased364057wt: 0.82 / mu: 0.73wt: TCTTGGTTTTCACATTTCCAGATGGTCCCGCGTCAGAAGTA
mu: TCTTGGTTTTCACATTTCCAGATGGTCCCACGTCAGAAGTA		 ccag|ATGG
Donor marginally increased364069wt: 0.9266 / mu: 0.9406 (marginal change - not scored)wt: CCGCGTCAGAAGTAT
mu: CCACGTCAGAAGTAT		 GCGT|caga
Donor increased364071wt: 0.28 / mu: 0.41wt: GCGTCAGAAGTATCA
mu: ACGTCAGAAGTATCA		 GTCA|gaag
Donor gained3640620.74mu: GATGGTCCCACGTCA TGGT|ccca
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1046KTSRSQPGDGPASEVSAEGEEIFC
mutated  not conserved    1046KTSRSQPGDGPTSEVSAEGEEIF
Ptroglodytes  all identical  ENSPTRG00000007414  2801KTSRSQPGDGPASEVSAEGEEIF
Mmulatta  not conserved  ENSMMUG00000011251  2717KTSRSQPGDGPTSEVSAEGEEIF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000066406  2782KGSRTQPGDGPASEVPAEGEEIF
Ggallus  all conserved  ENSGALG00000006840  1198RGHRSQESDSHSSEAPPEGEEIF
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000079358  685SKSQT-PQDAASHLLPLTEP
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 3177 / 3177
position (AA) of stopcodon in wt / mu AA sequence 1059 / 1059
position of stopcodon in wt / mu cDNA 3403 / 3403
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 227 / 227
chromosome 15
strand 1
last intron/exon boundary 3354
theoretical NMD boundary in CDS 3077
length of CDS 3177
coding sequence (CDS) position 3136
cDNA position
(for ins/del: last normal base / first normal base)		 3362
gDNA position
(for ins/del: last normal base / first normal base)		 364066
chromosomal position
(for ins/del: last normal base / first normal base)		 86287867
original gDNA sequence snippet TCACATTTCCAGATGGTCCCGCGTCAGAAGTATCAGCAGAG
altered gDNA sequence snippet TCACATTTCCAGATGGTCCCACGTCAGAAGTATCAGCAGAG
original cDNA sequence snippet CTCAGCCCGGTGATGGTCCCGCGTCAGAAGTATCAGCAGAG
altered cDNA sequence snippet CTCAGCCCGGTGATGGTCCCACGTCAGAAGTATCAGCAGAG
wildtype AA sequence MSSSKKSKEK EKEKDKIKEK EKDSKDKEKD KKTVNGHTFS SIPVVGPISC SQCMKPFTNK
DAYTCANCSA FVHKGCRESL ASCAKVKMKQ PKGSLQAHDT SSLPTVIMRN KPSQPKERPR
SAVLLVDETA TTPIFANRRS QQSVSLSKSV SIQNITGVGN DENMSNTWKF LSHSTDSLNK
ISKVNESTES LTDEGVGTDM NEGQLLGDFE IESKQLEAES WSRIIDSKFL KQQKKDVVKR
QEVIYELMQT EFHHVRTLKI MSGVYSQGMM ADLLFEQQMV EKLFPCLDEL ISIHSQFFQR
ILERKKESLV DKSEKNFLIK RIGDVLVNQF SGENAERLKK TYGKFCGQHN QSVNYFKDLY
AKDKRFQAFV KKKMSSSVVR RLGIPECILL VTQRITKYPV LFQRILQCTK DNEVEQEDLA
QSLSLVKDVI GAVDSKVASY EKKVRLNEIY TKTDSKSIMR MKSGQMFAKE DLKRKKLVRD
GSVFLKNAAG RLKEVQAVLL TDILVFLQEK DQKYIFASLD QKSTVISLKK LIVREVAHEE
KGLFLISMGM TDPEMVEVHA SSKEERNSWI QIIQDTINTL NRDEDEGIPS ENEEEKKMLD
TRARELKEQL HQKDQKILLL LEEKEMIFRD MAECSTPLPE DCSPTHSPRV LFRSNTEEAL
KGGPLMKSAI NEVEILQGLV SGNLGGTLGP TVSSPIEQDV VGPVSLPRRA ETFGGFDSHQ
MNASKGGEKE EGDDGQDLRR TESDSGLKKG GNANLVFMLK RNSEQVVQSV VHLYELLSAL
QGVVLQQDSY IEDQKLVLSE RALTRSLSRP SSLIEQEKQR SLEKQRQDLA NLQKQQAQYL
EEKRRREREW EARERELRER EALLAQREEE VQQGQQDLEK EREELQQKKG TYQYDLERLR
AAQKQLEREQ EQLRREAERL SQRQTERDLC QVSHPHTKLM RIPSFFPSPE EPPSPSAPSI
AKSGSLDSEL SVSPKRNSIS RTHKDKGPFH ILSSTSQTNK GPEGQSQAPA STSASTRLFG
LTKPKEKKEK KKKNKTSRSQ PGDGPASEVS AEGEEIFC*
mutated AA sequence MSSSKKSKEK EKEKDKIKEK EKDSKDKEKD KKTVNGHTFS SIPVVGPISC SQCMKPFTNK
DAYTCANCSA FVHKGCRESL ASCAKVKMKQ PKGSLQAHDT SSLPTVIMRN KPSQPKERPR
SAVLLVDETA TTPIFANRRS QQSVSLSKSV SIQNITGVGN DENMSNTWKF LSHSTDSLNK
ISKVNESTES LTDEGVGTDM NEGQLLGDFE IESKQLEAES WSRIIDSKFL KQQKKDVVKR
QEVIYELMQT EFHHVRTLKI MSGVYSQGMM ADLLFEQQMV EKLFPCLDEL ISIHSQFFQR
ILERKKESLV DKSEKNFLIK RIGDVLVNQF SGENAERLKK TYGKFCGQHN QSVNYFKDLY
AKDKRFQAFV KKKMSSSVVR RLGIPECILL VTQRITKYPV LFQRILQCTK DNEVEQEDLA
QSLSLVKDVI GAVDSKVASY EKKVRLNEIY TKTDSKSIMR MKSGQMFAKE DLKRKKLVRD
GSVFLKNAAG RLKEVQAVLL TDILVFLQEK DQKYIFASLD QKSTVISLKK LIVREVAHEE
KGLFLISMGM TDPEMVEVHA SSKEERNSWI QIIQDTINTL NRDEDEGIPS ENEEEKKMLD
TRARELKEQL HQKDQKILLL LEEKEMIFRD MAECSTPLPE DCSPTHSPRV LFRSNTEEAL
KGGPLMKSAI NEVEILQGLV SGNLGGTLGP TVSSPIEQDV VGPVSLPRRA ETFGGFDSHQ
MNASKGGEKE EGDDGQDLRR TESDSGLKKG GNANLVFMLK RNSEQVVQSV VHLYELLSAL
QGVVLQQDSY IEDQKLVLSE RALTRSLSRP SSLIEQEKQR SLEKQRQDLA NLQKQQAQYL
EEKRRREREW EARERELRER EALLAQREEE VQQGQQDLEK EREELQQKKG TYQYDLERLR
AAQKQLEREQ EQLRREAERL SQRQTERDLC QVSHPHTKLM RIPSFFPSPE EPPSPSAPSI
AKSGSLDSEL SVSPKRNSIS RTHKDKGPFH ILSSTSQTNK GPEGQSQAPA STSASTRLFG
LTKPKEKKEK KKKNKTSRSQ PGDGPTSEVS AEGEEIFC*
speed 0.75 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