Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.99999990239582 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr12:133306589C>TN/A show variant in all transcripts   IGV
HGNC symbol POLE
Ensembl transcript ID ENST00000455752
Genbank transcript ID N/A
UniProt peptide Q07864
alteration type single base exchange
alteration region intron
DNA changes g.106799G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs10781634
databasehomozygous (T/T)heterozygousallele carriers
1000G2028341036
ExAC76261751525141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6140
0.2240
(flanking)-3.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased106801wt: 0.24 / mu: 0.64wt: CCCGTGGGGAGGAAG
mu: CCCATGGGGAGGAAG		 CGTG|ggga
Donor marginally increased106800wt: 0.9115 / mu: 0.9755 (marginal change - not scored)wt: CCCCGTGGGGAGGAA
mu: CCCCATGGGGAGGAA		 CCGT|gggg
Donor increased106804wt: 0.64 / mu: 0.74wt: GTGGGGAGGAAGCCC
mu: ATGGGGAGGAAGCCC		 GGGG|agga
distance from splice site 48724
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
19401940MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
21582158METALZinc (By similarity).might get lost (downstream of altered splice site)
21582190ZN_FINGCysA-type.might get lost (downstream of altered splice site)
21612161METALZinc (By similarity).might get lost (downstream of altered splice site)
21872187METALZinc (By similarity).might get lost (downstream of altered splice site)
21902190METALZinc (By similarity).might get lost (downstream of altered splice site)
22212221METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
22212238MOTIFCysB motif.might get lost (downstream of altered splice site)
22242224METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
22362236METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
22372237CONFLICTS -> T (in Ref. 1; AAA15448/AAC19148).might get lost (downstream of altered splice site)
22382238METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 12
strand -1
last intron/exon boundary 6781
theoretical NMD boundary in CDS 6730
length of CDS 6894
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 106799
chromosomal position
(for ins/del: last normal base / first normal base)		 133306589
original gDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered gDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSRPLGLKSF PRHKQAPLPL SLTFHGCLLL RRDDGATSSV SALKRLERSQ WTDKMDLRFG
FERLKEPGEK TGWLINMHPT EILDEDKRLG SAVDYYFIQD DGSRFKVALP YKPYFYIATR
KGCEREVSSF LSKKFQGKIA KVETVPKEDL DLPNHLVGLK RNYIRLSFHT VEDLVKVRKE
ISPAVKKNRE QDHASDAYTA LLSSVLQRGG VITDEEETSK KIADQLDNIV DMREYDVPYH
IRLSIDLKIH VAHWYNVRYR GNAFPVEITR RDDLVERPDP VVLAFDIETT KLPLKFPDAE
TDQIMMISYM IDGQGYLITN REIVSEDIED FEFTPKPEYE GPFCVFNEPD EAHLIQRWFE
HVQETKPTIM VTYNGDFFDW PFVEARAAVH GLSMQQEIGF QKDSQGEYKA PQCIHMDCLR
WVKRDSYLPV GSHNLKAAAK AKLGYDPVEL DPEDMCRMAT EQPQTLATYS VSDAVATYYL
YMKYVHPFIF ALCTIIPMEP DEVLRKGSGT LCEALLMVQA FHANIIFPNK QEQEFNKLTD
DGHVLDSETY VGGHVEALES GVFRSDIPCR FRMNPAAFDF LLQRVEKTLR HALEEEEKVP
VEQVTNFEEV CDEIKSKLAS LKDVPSRIEC PLIYHLDVGA MYPNIILTNR LQPSAMVDEA
TCAACDFNKP GANCQRKMAW QWRGEFMPAS RSEYHRIQHQ LESEKFPPLF PEGPARAFHE
LSREEQAKYE KRRLADYCRK AYKKIHITKV EERLTTICQR ENSFYVDTVR AFRDRRYEFK
GLHKVWKKKL SAAVEVGDAA EVKRCKNMEV LYDSLQLAHK CILNSFYGYV MRKGARWYSM
EMAGIVCFTG ANIITQAREL IEQIGRPLEL DTDGIWCVLP NSFPENFVFK TTNVKKPKVT
ISYPGAMLNI MVKEGFTNDQ YQELAEPSSL TYVTRSENSI FFEVDGPYLA MILPASKEEG
KKLKKRYAVF NEDGSLAELK GFEVKRRGEL QLIKIFQSSV FEAFLKGSTL EEVYGSVAKV
ADYWLDVLYS KAANMPDSEL FELISENRSM SRKLEDYGEQ KSTSISTAKR LAEFLGDQMV
KDAGLSCRYI ISRKPEGSPV TERAIPLAIF QAEPTVRKHF LRKWLKSSSL QDFDIRAILD
WDYYIERLGS AIQKIITIPA ALQQVKNPVP RVKHPDWLHK KLLEKNDVYK QKKISELFTL
EGRRQVTMAE ASEDSPRPSA PDMEDFGLVK LPHPAAPVTV KRKRVLWESQ EESQDLTPTV
PWQEILGQPP ALGTSQEEWL VWLRFHKKKW QLQARQRLAR RKRQRLESAE GVLRPGAIRD
GPATGLGSFL RRTARSILDL PWQIVQISET SQAGLFRLWA LVGSDLHCIR LSIPRVFYVN
QRVAKAEEGA SYRKVNRVLP RSNMVYNLYE YSVPEDMYQE HINEINAELS APDIEGVYET
QVPLLFRALV HLGCVCVVNK QLVRHLSGWE AETFALEHLE MRSLAQFSYL EPGSIRHIYL
YHHAQAHKAL FGIFIPSQRR ASVFVLDTVR SNQMPSLGAL YSAEHGLLLE KVGPELLPPP
KHTFEVRAET DLKTICRAIQ RFLLAYKEER RGPTLIAVQS SWELKRLASE IPVLEEFPLV
PICVADKINY GVLDWQRHGA RRMIRHYLNL DTCLSQAFEM SRYFHIPIGN LPEDISTFGS
DLFFARHLQR HNHLLWLSPT ARPDLGGKEA DDNCLVMEFD DQATVEINSS GCYSTVCVEL
DLQNLAVNTI LQSHHVNDME GADSMGISFD VIQQASLEDM ITGGQAASAP ASYDETALCS
NTFRILKSMV VGWVKEITQY HNIYADNQVM HFYRWLRSPS SLLHDPALHR TLHNMMKKLF
LQLIAEFKRL GSSVIYANFN RIILCTKKRR VEDAIAYVEY ITSSIHSKET FHSLTISFSR
CWEFLLWMDP SNYGGIKGKV SSRIHCGLQD SQKAGGAEDE QENEDDEEER DGEEEEEAEE
SNVEDLLENN WNILQFLPQA ASCQNYFLMI VSAYIVAVYH CMKDGLRRSA PGSTPVRRRG
ASQLSQEAEG AVGALPGMIT FSQDYVANEL TQSFFTITQK IQKKVTGSRN STELSEMFPV
LPGSHLLLNN PALEFIKYVC KVLSLDTNIT NQVNKLNRDL LRLVDVGEFS EEAQFRDPCR
SYVLPEVICR SCNFCRDLDL CKDSSFSEDG AVLPQWLCSN CQAPYDSSAI EMTLVEVLQK
KLMAFTLQDL VCLKCRGVKE TSMPVYCSCA GDFALTIHTQ VFMEQIGIFR NIAQHYGMSY
LLETLEWLLQ KNPQLGH*
mutated AA sequence N/A
speed 1.12 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