Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.694811423067105 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:55541174A>GN/A show variant in all transcripts   IGV
HGNC symbol USP24
Ensembl transcript ID ENST00000407756
Genbank transcript ID N/A
UniProt peptide Q9UPU5
alteration type single base exchange
alteration region CDS
DNA changes c.6923T>C
cDNA.6923T>C
g.139866T>C
AA changes V2308A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS
2308
frameshift no
known variant Reference ID: rs487230
databasehomozygous (G/G)heterozygousallele carriers
1000G13727232095
ExAC30608-284492159
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.810.847
1.7540.988
(flanking)1.640.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased139868wt: 0.9380 / mu: 0.9652 (marginal change - not scored)wt: AAGTAGAGCGAGTCA
mu: AAGCAGAGCGAGTCA
 GTAG|agcg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2308HEILVIEDPIQVERVKFVFETENG
mutated  not conserved    2308HEILVIEDPIQAERVKFVFETEN
Ptroglodytes  all identical  ENSPTRG00000000784  2369HEILVIEDPIQVERVKFVFETEN
Mmulatta  all identical  ENSMMUG00000005740  1721HEILVIEDPIQVERVKFVFETEN
Fcatus  all identical  ENSFCAG00000008817  2299DPIQVERVKFVFETEN
Mmusculus  all identical  ENSMUSG00000028514  2466HEVLVIEDPIQVERVKFVFETEN
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000016307  1709QELLVMEDPLQSQRLKYAFESDK
Drerio  not conserved  ENSDARG00000059925  2437LEILMLEDPLQSQRLKFAFESEK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000029949  18YEILVIEDPLQLQRLKFTFESD-
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7383 / 7383
position (AA) of stopcodon in wt / mu AA sequence 2461 / 2461
position of stopcodon in wt / mu cDNA 7383 / 7383
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 1 / 1
chromosome 1
strand -1
last intron/exon boundary 7321
theoretical NMD boundary in CDS 7270
length of CDS 7383
coding sequence (CDS) position 6923
cDNA position
(for ins/del: last normal base / first normal base)
6923
gDNA position
(for ins/del: last normal base / first normal base)
139866
chromosomal position
(for ins/del: last normal base / first normal base)
55541174
original gDNA sequence snippet TATTGAAGATCCTATACAAGTAGAGCGAGTCAAATTTGTGT
altered gDNA sequence snippet TATTGAAGATCCTATACAAGCAGAGCGAGTCAAATTTGTGT
original cDNA sequence snippet TATTGAAGATCCTATACAAGTAGAGCGAGTCAAATTTGTGT
altered cDNA sequence snippet TATTGAAGATCCTATACAAGCAGAGCGAGTCAAATTTGTGT
wildtype AA sequence MTTLLCMGFS DPATIRKALR LAKNDINEAV ALLTNERPGL DYGGYEPMDS GGLSESDENC
RRFMDRCMPE AFKKLLTSSA VHKWGTEIHE GIYNMLMLLI ELVAERIKQD PIPTGLLGVL
TMAFNPDNEY HFKNRMKVSQ RNWAEVFGEG NMFAVSPVST FQKEPHGWVV DLVNKFGELG
GFAAIQAKLH SEDIELGAVS ALIQPLGVCA EYLNSSVVQP MLDPVILTTI QDVRSVEEKD
LKDKRLVSIP ELLSAVKLLC MRFQPDLVTI VDDLRLDILL RMLKSPHFSA KMNSLKEVTK
LIEDSTLSKS VKNAIDTDRL LDWLVENSVL SIALEGNIDQ AQYCDRIKGI IELLGSKLSL
DELTKIWKIQ SGQSSTVIEN IHTIIAAAAV KFNSDQLNHL FVLIQKVLDV LWELAHLPTL
PSSLIQQALE EHLTILSDAY AVKEAIKRSY IIKCIEDIKR SSQLNNPQFV WVVPALRQLH
EITRSFIKQT YQKQDKSIIQ DLKKNFEIVK LVTGSLIACH RLAAAVAGPG GLSGSTLVDG
RYTYREYLEA HLKFLAFFLQ EATLYLGWNR AKEIWECLVT GQDVCELDRE MCFEWFTKGQ
HDLESDVQQQ LFKEKILKLE SYEITMNGFN LFKTFFENVN LCDHRLKRQG AQLYVEKLEL
IGMDFIWKIA MESPDEEIAN EAIQLIINYS YINLNPRLKK DSVSLHKKFI ADCYTRLEAA
SSALGGPTLT HAVTRATKML TATAMPTVAT SVQSPYRSTK LVIIERLLLL AERYVITIED
FYSVPRTILP HGASFHGHLL TLNVTYESTK DTFTVEAHSN ETIGSVRWKI AKQLCSPVDN
IQIFTNDSLL TVNKDQKLLH QLGFSDEQIL TVKTSGSGTP SGSSADSSTS SSSSSSGVFS
SSYAMEQEKS LPGVVMALVC NVFDMLYQLA NLEEPRITLR VRKLLLLIPT DPAIQEALDQ
LDSLGRKKTL LSESSSQSSK SPSLSSKQQH QPSASSILES LFRSFAPGMS TFRVLYNLEV
LSSKLMPTAD DDMARSCAKS FCENFLKAGG LSLVVNVMQR DSIPSEVDYE TRQGVYSICL
QLARFLLVGQ TMPTLLDEDL TKDGIEALSS RPFRNVSRQT SRQMSLCGTP EKSSYRQLSV
SDRSSIRVEE IIPAARVAIQ TMEVSDFTST VACFMRLSWA AAAGRLDLVG SSQPIKESNS
LCPAGIRNRL SSSGSNCSSG SEGEPVALHA GICVRQQSVS TKDSLIAGEA LSLLVTCLQL
RSQQLASFYN LPCVADFIID ILLGSPSAEI RRVACDQLYT LSQTDTSAHP DVQKPNQFLL
GVILTAQLPL WSPTSIMRGV NQRLLSQCME YFDLRCQLLD DLTTSEMEQL RISPATMLED
EITWLDNFEP NRTAECETSE ADNILLAGHL RLIKTLLSLC GAEKEMLGSS LIKPLLDDFL
FRASRIILNS HSPAGSAAIS QQDFHPKCST ANSRLAAYEV LVMLADSSPS NLQIIIKELL
SMHHQPDPAL TKEFDYLPPV DSRSSSGFVG LRNGGATCYM NAVFQQLYMQ PGLPESLLSV
DDDTDNPDDS VFYQVQSLFG HLMESKLQYY VPENFWKIFK MWNKELYVRE QQDAYEFFTS
LIDQMDEYLK KMGRDQIFKN TFQGIYSDQK ICKDCPHRYE REEAFMALNL GVTSCQSLEI
SLDQFVRGEV LEGSNAYYCE KCKEKRITVK RTCIKSLPSV LVIHLMRFGF DWESGRSIKY
DEQIRFPWML NMEPYTVSGM ARQDSSSEVG ENGRSVDQGG GGSPRKKVAL TENYELVGVI
VHSGQAHAGH YYSFIKDRRG CGKGKWYKFN DTVIEEFDLN DETLEYECFG GEYRPKVYDQ
TNPYTDVRRR YWNAYMLFYQ RVSDQNSPVL PKKSRVSVVR QEAEDLSLSA PSSPEISPQS
SPRPHRPNND RLSILTKLVK KGEKKGLFVE KMPARIYQMV RDENLKFMKN RDVYSSDYFS
FVLSLASLNA TKLKHPYYPC MAKVSLQLAI QFLFQTYLRT KKKLRVDTEE WIATIEALLS
KSFDACQWLV EYFISSEGRE LIKIFLLECN VREVRVAVAT ILEKTLDSAL FYQDKLKSLH
QLLEVLLALL DKDVPENCKN CAQYFFLFNT FVQKQGIRAG DLLLRHSALR HMISFLLGAS
RQNNQIRRWS SAQAREFGNL HNTVALLVLH SDVSSQRNVA PGIFKQRPPI SIAPSSPLLP
LHEEVEALLF MSEGKPYLLE VMFALRELTG SLLALIEMVV YCCFCNEHFS FTMLHFIKNQ
LETAPPHELK NTFQLLHEIL VIEDPIQVER VKFVFETENG LLALMHHSNH VDSSRCYQCV
KFLVTLAQKC PAAKEYFKEN SHHWSWAVQW LQKKMSEHYW TPQSNVSNET STGKTFQRTI
SAQDTLAYAT ALLNEKEQSG SSNGSESSPA NENGDRHLQQ GSESPMMIGE LRSDLDDVDP
*
mutated AA sequence MTTLLCMGFS DPATIRKALR LAKNDINEAV ALLTNERPGL DYGGYEPMDS GGLSESDENC
RRFMDRCMPE AFKKLLTSSA VHKWGTEIHE GIYNMLMLLI ELVAERIKQD PIPTGLLGVL
TMAFNPDNEY HFKNRMKVSQ RNWAEVFGEG NMFAVSPVST FQKEPHGWVV DLVNKFGELG
GFAAIQAKLH SEDIELGAVS ALIQPLGVCA EYLNSSVVQP MLDPVILTTI QDVRSVEEKD
LKDKRLVSIP ELLSAVKLLC MRFQPDLVTI VDDLRLDILL RMLKSPHFSA KMNSLKEVTK
LIEDSTLSKS VKNAIDTDRL LDWLVENSVL SIALEGNIDQ AQYCDRIKGI IELLGSKLSL
DELTKIWKIQ SGQSSTVIEN IHTIIAAAAV KFNSDQLNHL FVLIQKVLDV LWELAHLPTL
PSSLIQQALE EHLTILSDAY AVKEAIKRSY IIKCIEDIKR SSQLNNPQFV WVVPALRQLH
EITRSFIKQT YQKQDKSIIQ DLKKNFEIVK LVTGSLIACH RLAAAVAGPG GLSGSTLVDG
RYTYREYLEA HLKFLAFFLQ EATLYLGWNR AKEIWECLVT GQDVCELDRE MCFEWFTKGQ
HDLESDVQQQ LFKEKILKLE SYEITMNGFN LFKTFFENVN LCDHRLKRQG AQLYVEKLEL
IGMDFIWKIA MESPDEEIAN EAIQLIINYS YINLNPRLKK DSVSLHKKFI ADCYTRLEAA
SSALGGPTLT HAVTRATKML TATAMPTVAT SVQSPYRSTK LVIIERLLLL AERYVITIED
FYSVPRTILP HGASFHGHLL TLNVTYESTK DTFTVEAHSN ETIGSVRWKI AKQLCSPVDN
IQIFTNDSLL TVNKDQKLLH QLGFSDEQIL TVKTSGSGTP SGSSADSSTS SSSSSSGVFS
SSYAMEQEKS LPGVVMALVC NVFDMLYQLA NLEEPRITLR VRKLLLLIPT DPAIQEALDQ
LDSLGRKKTL LSESSSQSSK SPSLSSKQQH QPSASSILES LFRSFAPGMS TFRVLYNLEV
LSSKLMPTAD DDMARSCAKS FCENFLKAGG LSLVVNVMQR DSIPSEVDYE TRQGVYSICL
QLARFLLVGQ TMPTLLDEDL TKDGIEALSS RPFRNVSRQT SRQMSLCGTP EKSSYRQLSV
SDRSSIRVEE IIPAARVAIQ TMEVSDFTST VACFMRLSWA AAAGRLDLVG SSQPIKESNS
LCPAGIRNRL SSSGSNCSSG SEGEPVALHA GICVRQQSVS TKDSLIAGEA LSLLVTCLQL
RSQQLASFYN LPCVADFIID ILLGSPSAEI RRVACDQLYT LSQTDTSAHP DVQKPNQFLL
GVILTAQLPL WSPTSIMRGV NQRLLSQCME YFDLRCQLLD DLTTSEMEQL RISPATMLED
EITWLDNFEP NRTAECETSE ADNILLAGHL RLIKTLLSLC GAEKEMLGSS LIKPLLDDFL
FRASRIILNS HSPAGSAAIS QQDFHPKCST ANSRLAAYEV LVMLADSSPS NLQIIIKELL
SMHHQPDPAL TKEFDYLPPV DSRSSSGFVG LRNGGATCYM NAVFQQLYMQ PGLPESLLSV
DDDTDNPDDS VFYQVQSLFG HLMESKLQYY VPENFWKIFK MWNKELYVRE QQDAYEFFTS
LIDQMDEYLK KMGRDQIFKN TFQGIYSDQK ICKDCPHRYE REEAFMALNL GVTSCQSLEI
SLDQFVRGEV LEGSNAYYCE KCKEKRITVK RTCIKSLPSV LVIHLMRFGF DWESGRSIKY
DEQIRFPWML NMEPYTVSGM ARQDSSSEVG ENGRSVDQGG GGSPRKKVAL TENYELVGVI
VHSGQAHAGH YYSFIKDRRG CGKGKWYKFN DTVIEEFDLN DETLEYECFG GEYRPKVYDQ
TNPYTDVRRR YWNAYMLFYQ RVSDQNSPVL PKKSRVSVVR QEAEDLSLSA PSSPEISPQS
SPRPHRPNND RLSILTKLVK KGEKKGLFVE KMPARIYQMV RDENLKFMKN RDVYSSDYFS
FVLSLASLNA TKLKHPYYPC MAKVSLQLAI QFLFQTYLRT KKKLRVDTEE WIATIEALLS
KSFDACQWLV EYFISSEGRE LIKIFLLECN VREVRVAVAT ILEKTLDSAL FYQDKLKSLH
QLLEVLLALL DKDVPENCKN CAQYFFLFNT FVQKQGIRAG DLLLRHSALR HMISFLLGAS
RQNNQIRRWS SAQAREFGNL HNTVALLVLH SDVSSQRNVA PGIFKQRPPI SIAPSSPLLP
LHEEVEALLF MSEGKPYLLE VMFALRELTG SLLALIEMVV YCCFCNEHFS FTMLHFIKNQ
LETAPPHELK NTFQLLHEIL VIEDPIQAER VKFVFETENG LLALMHHSNH VDSSRCYQCV
KFLVTLAQKC PAAKEYFKEN SHHWSWAVQW LQKKMSEHYW TPQSNVSNET STGKTFQRTI
SAQDTLAYAT ALLNEKEQSG SSNGSESSPA NENGDRHLQQ GSESPMMIGE LRSDLDDVDP
*
speed 1.00 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