Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997468712 (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) chr1:112308953T>CN/A show variant in all transcripts   IGV
HGNC symbol DDX20
Ensembl transcript ID ENST00000369702
Genbank transcript ID NM_007204
UniProt peptide Q9UHI6
alteration type single base exchange
alteration region CDS
DNA changes c.1907T>C
cDNA.2527T>C
g.11087T>C
AA changes I636T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 636
frameshift no
known variant Reference ID: rs197412
databasehomozygous (C/C)heterozygousallele carriers
1000G62311301753
ExAC11593958121174
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0970
0.5210.265
(flanking)0.4440.605
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased11082wt: 0.79 / mu: 0.90wt: AATAAAGTTATTGAA
mu: AATAAAGTTACTGAA		 TAAA|gtta
Donor increased11088wt: 0.20 / mu: 0.50wt: GTTATTGAACAGAGA
mu: GTTACTGAACAGAGA		 TATT|gaac
Donor marginally increased11092wt: 0.8993 / mu: 0.9528 (marginal change - not scored)wt: TTGAACAGAGAGTCC
mu: CTGAACAGAGAGTCC		 GAAC|agag
Donor marginally increased11090wt: 0.7691 / mu: 0.7898 (marginal change - not scored)wt: TATTGAACAGAGAGT
mu: TACTGAACAGAGAGT		 TTGA|acag
distance from splice site 595
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      636NPQNGFVRNKVIEQRVPVLASSSQ
mutated  not conserved    636NPQNGFVRNKVTEQRVPVLASSS
Ptroglodytes  not conserved  ENSPTRG00000001105  598NPQNGFVRNKVTEQ
Mmulatta  not conserved  ENSMMUG00000014489  637NPQNGFVRNKVTEQRVPILASSS
Fcatus  not conserved  ENSFCAG00000002670  524NPQNGFVRNRIPEERVQVLASSS
Mmusculus  not conserved  ENSMUSG00000027905  637NPQNGFVRNRVSEDRAQMLVSSS
Ggallus  all conserved  ENSGALG00000001504  577LPRNGGIEWKEVECNRDTVANDV
Trubripes  not conserved  ENSTRUG00000006686  572SECLKLCRKWRKSGQSHPRSISSS
Drerio  not conserved  ENSDARG00000061204  607EDEASESYV---LEES
Dmelanogaster  no alignment  FBgn0011802  n/a
Celegans  all identical  T06A10.1  618KIIKSRNVQIGSQE
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
639639CONFLICTR -> K (in Ref. 1; AAF14544).might get lost (downstream of altered splice site)
649649MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
652652MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
654654MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
656656MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
659659CONFLICTY -> H (in Ref. 2; AAD42744).might get lost (downstream of altered splice site)
672672MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
676676CONFLICTG -> S (in Ref. 1; AAF14544).might get lost (downstream of altered splice site)
677677MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
678678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
703703CONFLICTS -> T (in Ref. 1; AAF14544).might get lost (downstream of altered splice site)
703703MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
705705MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
714714MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2475 / 2475
position (AA) of stopcodon in wt / mu AA sequence 825 / 825
position of stopcodon in wt / mu cDNA 3095 / 3095
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 621 / 621
chromosome 1
strand 1
last intron/exon boundary 1933
theoretical NMD boundary in CDS 1262
length of CDS 2475
coding sequence (CDS) position 1907
cDNA position
(for ins/del: last normal base / first normal base)		 2527
gDNA position
(for ins/del: last normal base / first normal base)		 11087
chromosomal position
(for ins/del: last normal base / first normal base)		 112308953
original gDNA sequence snippet TTTTGTGAGAAATAAAGTTATTGAACAGAGAGTCCCTGTGT
altered gDNA sequence snippet TTTTGTGAGAAATAAAGTTACTGAACAGAGAGTCCCTGTGT
original cDNA sequence snippet TTTTGTGAGAAATAAAGTTATTGAACAGAGAGTCCCTGTGT
altered cDNA sequence snippet TTTTGTGAGAAATAAAGTTACTGAACAGAGAGTCCCTGTGT
wildtype AA sequence MAAAFEASGA LAAVATAMPA EHVAVQVPAP EPTPGPVRIL RTAQDLSSPR TRTGDVLLAE
PADFESLLLS RPVLEGLRAA GFERPSPVQL KAIPLGRCGL DLIVQAKSGT GKTCVFSTIA
LDSLVLENLS TQILILAPTR EIAVQIHSVI TAIGIKMEGL ECHVFIGGTP LSQDKTRLKK
CHIAVGSPGR IKQLIELDYL NPGSIRLFIL DEADKLLEEG SFQEQINWIY SSLPASKQML
AVSATYPEFL ANALTKYMRD PTFVRLNSSD PSLIGLKQYY KVVNSYPLAH KVFEEKTQHL
QELFSRIPFN QALVFSNLHS RAQHLADILS SKGFPAECIS GNMNQNQRLD AMAKLKHFHC
RVLISTDLTS RGIDAEKVNL VVNLDVPLDW ETYMHRIGRA GRFGTLGLTV TYCCRGEEEN
MMMRIAQKCN INLLPLPDPI PSGLMEECVD WDVEVKAAVH TYGIASVPNQ PLKKQIQKIE
RTLQIQKAHG DHMASSRNNS VSGLSVKSKN NTKQKLPVKS HSECGIIEKA TSPKELGCDR
QSEEQMKNSV QTPVENSTNS QHQVKEALPV SLPQIPCLSS FKIHQPYTLT FAELVEDYEH
YIKEGLEKPV EIIRHYTGPG DQTVNPQNGF VRNKVIEQRV PVLASSSQSG DSESDSDSYS
SRTSSQSKGN KSYLEGSSDN QLKDSESTPV DDRISLEQPP NGSDTPNPEK YQESPGIQMK
TRLKEGASQR AKQSRRNLPR RSSFRLQTEA QEDDWYDCHR EIRLSFSDTY QDYEEYWRAY
YRAWQEYYAA ASHSYYWNAQ RHPSWMAAYH MNTIYLQEMM HSNQ*
mutated AA sequence MAAAFEASGA LAAVATAMPA EHVAVQVPAP EPTPGPVRIL RTAQDLSSPR TRTGDVLLAE
PADFESLLLS RPVLEGLRAA GFERPSPVQL KAIPLGRCGL DLIVQAKSGT GKTCVFSTIA
LDSLVLENLS TQILILAPTR EIAVQIHSVI TAIGIKMEGL ECHVFIGGTP LSQDKTRLKK
CHIAVGSPGR IKQLIELDYL NPGSIRLFIL DEADKLLEEG SFQEQINWIY SSLPASKQML
AVSATYPEFL ANALTKYMRD PTFVRLNSSD PSLIGLKQYY KVVNSYPLAH KVFEEKTQHL
QELFSRIPFN QALVFSNLHS RAQHLADILS SKGFPAECIS GNMNQNQRLD AMAKLKHFHC
RVLISTDLTS RGIDAEKVNL VVNLDVPLDW ETYMHRIGRA GRFGTLGLTV TYCCRGEEEN
MMMRIAQKCN INLLPLPDPI PSGLMEECVD WDVEVKAAVH TYGIASVPNQ PLKKQIQKIE
RTLQIQKAHG DHMASSRNNS VSGLSVKSKN NTKQKLPVKS HSECGIIEKA TSPKELGCDR
QSEEQMKNSV QTPVENSTNS QHQVKEALPV SLPQIPCLSS FKIHQPYTLT FAELVEDYEH
YIKEGLEKPV EIIRHYTGPG DQTVNPQNGF VRNKVTEQRV PVLASSSQSG DSESDSDSYS
SRTSSQSKGN KSYLEGSSDN QLKDSESTPV DDRISLEQPP NGSDTPNPEK YQESPGIQMK
TRLKEGASQR AKQSRRNLPR RSSFRLQTEA QEDDWYDCHR EIRLSFSDTY QDYEEYWRAY
YRAWQEYYAA ASHSYYWNAQ RHPSWMAAYH MNTIYLQEMM HSNQ*
speed 1.08 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