Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:138602523T>CN/A show variant in all transcripts   IGV
HGNC symbol KIAA1549
Ensembl transcript ID ENST00000422774
Genbank transcript ID NM_001164665
UniProt peptide Q9HCM3
alteration type single base exchange
alteration region CDS
DNA changes c.1849A>G
cDNA.1898A>G
g.63542A>G
AA changes R617G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 617
frameshift no
known variant Reference ID: rs2774962
databasehomozygous (C/C)heterozygousallele carriers
1000G8388261664
ExAC59201387119791
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7980
-0.1320
(flanking)-0.3090
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 increased63535wt: 0.6141 / mu: 0.6608 (marginal change - not scored)wt: CGTTCCAGTTTTTCTGAGCATAAACCCAGAGGTGCTTTGGA
mu: CGTTCCAGTTTTTCTGAGCATAAACCCGGAGGTGCTTTGGA		 gcat|AAAC
Acc marginally increased63533wt: 0.8059 / mu: 0.8181 (marginal change - not scored)wt: AACGTTCCAGTTTTTCTGAGCATAAACCCAGAGGTGCTTTG
mu: AACGTTCCAGTTTTTCTGAGCATAAACCCGGAGGTGCTTTG		 gagc|ATAA
distance from splice site 1030
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      617QERSSFSEHKPRGALDFASSFFST
mutated  not conserved    617QERSSFSEHKPGGALDFASSFFS
Ptroglodytes  not conserved  ENSPTRG00000019747  616QERSSFSEHKPGGALDFASSFFS
Mmulatta  not conserved  ENSMMUG00000006548  549SSFSEHKPGGALDFASSFYS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000063455  600SLELQSGSRLDFTSGFYS
Ggallus  not conserved  ENSGALG00000012796  216--KTSTREELSLNISDFSSNLLS
Trubripes  no alignment  ENSTRUG00000008238  n/a
Drerio  not conserved  ENSDARG00000063361  442QSVNESSEL----ASDWPGTV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000011574  n/a
protein features
start (aa)end (aa)featuredetails 
494764COMPBIASSer-rich.lost
617617CONFLICTR -> G (in Ref. 3; BAB13375).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5853 / 5853
position (AA) of stopcodon in wt / mu AA sequence 1951 / 1951
position of stopcodon in wt / mu cDNA 5902 / 5902
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 50 / 50
chromosome 7
strand -1
last intron/exon boundary 5648
theoretical NMD boundary in CDS 5548
length of CDS 5853
coding sequence (CDS) position 1849
cDNA position
(for ins/del: last normal base / first normal base)		 1898
gDNA position
(for ins/del: last normal base / first normal base)		 63542
chromosomal position
(for ins/del: last normal base / first normal base)		 138602523
original gDNA sequence snippet GTTTTTCTGAGCATAAACCCAGAGGTGCTTTGGATTTTGCA
altered gDNA sequence snippet GTTTTTCTGAGCATAAACCCGGAGGTGCTTTGGATTTTGCA
original cDNA sequence snippet GTTTTTCTGAGCATAAACCCAGAGGTGCTTTGGATTTTGCA
altered cDNA sequence snippet GTTTTTCTGAGCATAAACCCGGAGGTGCTTTGGATTTTGCA
wildtype AA sequence MPGARRRRRG AAMEGKPRAG VALAPGPSGR RPSARCARRR RPGLLLPGLW LLLLARPASC
APDELSPEQH NLSLYSMELV LKKSTGHSAA QVALTETAPG SQHSSPLHVT APPSATTFDT
AFFNQGKQTK STADPSIFVA TYVSVTSKEV AVNDDEMDNF LPDTHWTTPR MVSPIQYITV
SPPGLPREAL EPMLTPSLPM VSLQDEEVTS GWQNTTRQPA AYAESASHFH TFRSAFRTSE
GIVPTPGRNL VLYPTDAYSH LSSRTLPEIV ASLTEGVETT LFLSSRSLMP QPLGDGITIP
LPSLGEVSQP PEEVWATSAD RYTDVTTVLS QSLEETISPR TYPTVTASHA ALAFSRTHSP
LLSTPLAFAS SASPTDVSSN PFLPSDSSKT SELHSNSALP GPVDNTHILS PVSSFRPYTW
CAACTVPSPQ QVLATSLMEK DVGSGDGAET LCMTVLEESS ISLMSSVVAD FSEFEEDPQV
FNTLFPSRPI VPLSSRSMEI SETSVGISAE VDMSSVTTTQ VPPAHGRLSV PASLDPTAGS
LSVAETQVTP SSVTTAFFSV ITSILLDSSF SVIANKNTPS LAVRDPSVFT PYSLVPSVES
SLFSDQERSS FSEHKPRGAL DFASSFFSTP PLELSGSISS PSEAPASLSL MPSDLSPFTS
QSFSPLVETF TLFDSSDLQS SQLSLPSSTN LEFSQLQPSS ELPLNTIMLL PSRSEVSPWS
SFPSDSLEFV EASTVSLTDS EAHFTSAFIE TTSYLESSLI SHESAVTALV PPGSESFDIL
TAGIQATSPL TTVHTTPILT ESSLFSTLTP PDDQISALDG HVSVLASFSK AIPTGTVLIT
DAYLPSGSSF VSEATPFPLP TELTVVGPSL TPTEVPLNTS TEVSTTSTGA ATGGPLDSTL
MGDAASQSPP ESSAAPPLPS LRPVTAFTLE ATVDTPTLAT AKPPYVCDIT VPDAYLITTV
LARRAVQEYI ITAIKEVLRI HFNRAVELKV YELFTDFTFL VTSGPFVYTA ISVINVLINS
KLVRDQTPLI LSVKPSFLVP ESRFQVQTVL QFVPPSVDTG FCNFTQRIEK GLMTALFEVR
KHHQGTYNLT VQILNITISS SRVTPRRGPV NIIFAVKSTQ GFLNGSEVSE LLRNLSVVEF
SFYLGYPVLQ IAEPFQYPQL NLSQLLKSSW VRTVLLGVME KQLQNEVFQA EMERKLAQLL
SEVSTRRRMW RRATVAAGNS VVQVVNVSRL EGDDNPVQLI YFVEDQDGER LSAVKSSDLI
NKMDLQRAAI ILGYRIQGVI AQPVDRVKRP SPESQSNNLW VIVGVVIPVL VVMVIVVILY
WKLCRTDKLD FQPDTVANIQ QRQKLQIPSV KGFDFAKQHL GQHNKDDILI IHEPAPLPGP
LKDHTTPSEN GDVPSPKSKI PSKNVRHRGR VSPSDADSTV SEESSERDAG DKTPGAVNDG
RSHRAPQSGP PLPSSGNEQH SSASIFEHVD RISRPPEASR RVPSKIQLIA MQPIPAPPVQ
RPSPADRVAE SNKINKEIQT ALRHKSEIEH HRNKIRLRAK RRGHYEFPVV DDLSSGDTKE
RHRVYRRAQM QIDKILDPTA SVPSVFIEPR KSSRIKRSPK PRRKHQVNGC PADAEKDRLI
TTDSDGTYRR PPGVHNSAYI GCPSDPDLPA DVQTPSSVEL GRYPALPFPA SQYIPPQPSI
EEARQTMHSL LDDAFALVAP SSQPASTAGV GPGVPPGLPA NSTPSQEERR ATQWGSFYSP
AQTANNPCSR YEDYGMTPPT GPLPRPGFGP GLLQSTELVP PDPQQPQASA EAPFAARGIY
SEEMPSVARP RPVGGTTGSQ IQHLTQVGIA SRIGAQPVEI PPSRGSQYGG PGWPSYGEDE
AGRREATHML GHQEYSSSPL FQVPRTSGRE PSAPSGNLPH RGLQGPGLGY PTSSTEDLQP
GHSSASLIKA IREELLRLSQ KQSTVQNFHS *
mutated AA sequence MPGARRRRRG AAMEGKPRAG VALAPGPSGR RPSARCARRR RPGLLLPGLW LLLLARPASC
APDELSPEQH NLSLYSMELV LKKSTGHSAA QVALTETAPG SQHSSPLHVT APPSATTFDT
AFFNQGKQTK STADPSIFVA TYVSVTSKEV AVNDDEMDNF LPDTHWTTPR MVSPIQYITV
SPPGLPREAL EPMLTPSLPM VSLQDEEVTS GWQNTTRQPA AYAESASHFH TFRSAFRTSE
GIVPTPGRNL VLYPTDAYSH LSSRTLPEIV ASLTEGVETT LFLSSRSLMP QPLGDGITIP
LPSLGEVSQP PEEVWATSAD RYTDVTTVLS QSLEETISPR TYPTVTASHA ALAFSRTHSP
LLSTPLAFAS SASPTDVSSN PFLPSDSSKT SELHSNSALP GPVDNTHILS PVSSFRPYTW
CAACTVPSPQ QVLATSLMEK DVGSGDGAET LCMTVLEESS ISLMSSVVAD FSEFEEDPQV
FNTLFPSRPI VPLSSRSMEI SETSVGISAE VDMSSVTTTQ VPPAHGRLSV PASLDPTAGS
LSVAETQVTP SSVTTAFFSV ITSILLDSSF SVIANKNTPS LAVRDPSVFT PYSLVPSVES
SLFSDQERSS FSEHKPGGAL DFASSFFSTP PLELSGSISS PSEAPASLSL MPSDLSPFTS
QSFSPLVETF TLFDSSDLQS SQLSLPSSTN LEFSQLQPSS ELPLNTIMLL PSRSEVSPWS
SFPSDSLEFV EASTVSLTDS EAHFTSAFIE TTSYLESSLI SHESAVTALV PPGSESFDIL
TAGIQATSPL TTVHTTPILT ESSLFSTLTP PDDQISALDG HVSVLASFSK AIPTGTVLIT
DAYLPSGSSF VSEATPFPLP TELTVVGPSL TPTEVPLNTS TEVSTTSTGA ATGGPLDSTL
MGDAASQSPP ESSAAPPLPS LRPVTAFTLE ATVDTPTLAT AKPPYVCDIT VPDAYLITTV
LARRAVQEYI ITAIKEVLRI HFNRAVELKV YELFTDFTFL VTSGPFVYTA ISVINVLINS
KLVRDQTPLI LSVKPSFLVP ESRFQVQTVL QFVPPSVDTG FCNFTQRIEK GLMTALFEVR
KHHQGTYNLT VQILNITISS SRVTPRRGPV NIIFAVKSTQ GFLNGSEVSE LLRNLSVVEF
SFYLGYPVLQ IAEPFQYPQL NLSQLLKSSW VRTVLLGVME KQLQNEVFQA EMERKLAQLL
SEVSTRRRMW RRATVAAGNS VVQVVNVSRL EGDDNPVQLI YFVEDQDGER LSAVKSSDLI
NKMDLQRAAI ILGYRIQGVI AQPVDRVKRP SPESQSNNLW VIVGVVIPVL VVMVIVVILY
WKLCRTDKLD FQPDTVANIQ QRQKLQIPSV KGFDFAKQHL GQHNKDDILI IHEPAPLPGP
LKDHTTPSEN GDVPSPKSKI PSKNVRHRGR VSPSDADSTV SEESSERDAG DKTPGAVNDG
RSHRAPQSGP PLPSSGNEQH SSASIFEHVD RISRPPEASR RVPSKIQLIA MQPIPAPPVQ
RPSPADRVAE SNKINKEIQT ALRHKSEIEH HRNKIRLRAK RRGHYEFPVV DDLSSGDTKE
RHRVYRRAQM QIDKILDPTA SVPSVFIEPR KSSRIKRSPK PRRKHQVNGC PADAEKDRLI
TTDSDGTYRR PPGVHNSAYI GCPSDPDLPA DVQTPSSVEL GRYPALPFPA SQYIPPQPSI
EEARQTMHSL LDDAFALVAP SSQPASTAGV GPGVPPGLPA NSTPSQEERR ATQWGSFYSP
AQTANNPCSR YEDYGMTPPT GPLPRPGFGP GLLQSTELVP PDPQQPQASA EAPFAARGIY
SEEMPSVARP RPVGGTTGSQ IQHLTQVGIA SRIGAQPVEI PPSRGSQYGG PGWPSYGEDE
AGRREATHML GHQEYSSSPL FQVPRTSGRE PSAPSGNLPH RGLQGPGLGY PTSSTEDLQP
GHSSASLIKA IREELLRLSQ KQSTVQNFHS *
speed 0.97 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