Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999998096222 (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 ENST00000475700
Genbank transcript ID N/A
UniProt peptide Q9UHI6
alteration type single base exchange
alteration region CDS
DNA changes c.731T>C
cDNA.3089T>C
g.11087T>C
AA changes I244T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 244
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 marginally increased11090wt: 0.7691 / mu: 0.7898 (marginal change - not scored)wt: TATTGAACAGAGAGT
mu: TACTGAACAGAGAGT		 TTGA|acag
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
distance from splice site 595
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      244NPQNGFVRNKVIEQRVPVLASSSQ
mutated  not conserved    244NKVTEQRVPVLASSS
Ptroglodytes  not conserved  ENSPTRG00000001105  598NPQNGFVRNKVTEQRVPVL
Mmulatta  not conserved  ENSMMUG00000014489  637NPQNGFVRNKVTEQRVPI
Fcatus  not conserved  ENSFCAG00000002670  524NPQNGFVRNRIPEERVQVL
Mmusculus  not conserved  ENSMUSG00000027905  637NPQNGFVRNRVSEDRAQM
Ggallus  all conserved  ENSGALG00000001504  577LPRNGGIEWKEVECNRDTVANDV
Trubripes  not conserved  ENSTRUG00000006686  575LKLCRKWRKSGQSHPRSISSS
Drerio  not conserved  ENSDARG00000061204  604GLHDAHDEDEASES
Dmelanogaster  no alignment  FBgn0011802  n/a
Celegans  all identical  T06A10.1  618KIIKSRNVQIGSQE
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
93264DOMAINHelicase ATP-binding.lost
238244STRANDlost
248254HELIXmight get lost (downstream of altered splice site)
255257TURNmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
279279CONFLICTY -> C (in Ref. 3; BAA91727).might get lost (downstream of altered splice site)
299448DOMAINHelicase C-terminal.might get lost (downstream of altered splice site)
456548REGIONSMN interacting.might get lost (downstream of altered splice site)
500500MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
532532MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
552552MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
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)
703703MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
703703CONFLICTS -> T (in Ref. 1; AAF14544).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 1299 / 1299
position (AA) of stopcodon in wt / mu AA sequence 433 / 433
position of stopcodon in wt / mu cDNA 3657 / 3657
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 2359 / 2359
chromosome 1
strand 1
last intron/exon boundary 2495
theoretical NMD boundary in CDS 86
length of CDS 1299
coding sequence (CDS) position 731
cDNA position
(for ins/del: last normal base / first normal base)		 3089
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 MIYYLTFSLL LGTLGLTVTY CCRGEEENMM MRIAQKCNIN LLPLPDPIPS GLMEECVDWD
VEVKAAVHTY GIASVPNQPL KKQIQKIERT LQIQKAHGDH MASSRNNSVS GLSVKSKNNT
KQKLPVKSHS ECGIIEKATS PKELGCDRQS EEQMKNSVQT PVENSTNSQH QVKEALPVSL
PQIPCLSSFK IHQPYTLTFA ELVEDYEHYI KEGLEKPVEI IRHYTGPGDQ TVNPQNGFVR
NKVIEQRVPV LASSSQSGDS ESDSDSYSSR TSSQSKGNKS YLEGSSDNQL KDSESTPVDD
RISLEQPPNG SDTPNPEKYQ ESPGIQMKTR LKEGASQRAK QSRRNLPRRS SFRLQTEAQE
DDWYDCHREI RLSFSDTYQD YEEYWRAYYR AWQEYYAAAS HSYYWNAQRH PSWMAAYHMN
TIYLQEMMHS NQ*
mutated AA sequence MIYYLTFSLL LGTLGLTVTY CCRGEEENMM MRIAQKCNIN LLPLPDPIPS GLMEECVDWD
VEVKAAVHTY GIASVPNQPL KKQIQKIERT LQIQKAHGDH MASSRNNSVS GLSVKSKNNT
KQKLPVKSHS ECGIIEKATS PKELGCDRQS EEQMKNSVQT PVENSTNSQH QVKEALPVSL
PQIPCLSSFK IHQPYTLTFA ELVEDYEHYI KEGLEKPVEI IRHYTGPGDQ TVNPQNGFVR
NKVTEQRVPV LASSSQSGDS ESDSDSYSSR TSSQSKGNKS YLEGSSDNQL KDSESTPVDD
RISLEQPPNG SDTPNPEKYQ ESPGIQMKTR LKEGASQRAK QSRRNLPRRS SFRLQTEAQE
DDWYDCHREI RLSFSDTYQD YEEYWRAYYR AWQEYYAAAS HSYYWNAQRH PSWMAAYHMN
TIYLQEMMHS NQ*
speed 0.11 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