Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999932746714736 (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) chr19:55672470T>CN/A show variant in all transcripts   IGV
HGNC symbol DNAAF3
Ensembl transcript ID ENST00000455045
Genbank transcript ID N/A
UniProt peptide Q8N9W5
alteration type single base exchange
alteration region CDS
DNA changes c.713A>G
cDNA.713A>G
g.5621A>G
AA changes E238G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 238
frameshift no
known variant Reference ID: rs2365725
databasehomozygous (C/C)heterozygousallele carriers
1000G207726933
ExAC37723332710
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Non-Gene Associated, Regulatory Feature, Non-Gene associated regulatory feature
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0620.617
0.5170.566
(flanking)-1.3530.498
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      238PFVAFGIEADDESLLRTSNGQPVK
mutated  not conserved    238PFVAFGIEADDGSL
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000055809  292PFMAFGIEADDQSLLRTRNGQPV
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000012980  284PFLAFGIETNDQSLLKKQNGQHI
Drerio  all conserved  ENSDARG00000092662  279PYLSFGIETENKELLKTQNNHYV
Dmelanogaster  all identical  FBgn0034352  291PFCGFGLRTVEERMHHSVHGDND
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1464 / 1464
position (AA) of stopcodon in wt / mu AA sequence 488 / 488
position of stopcodon in wt / mu cDNA 1464 / 1464
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 19
strand -1
last intron/exon boundary 1077
theoretical NMD boundary in CDS 1026
length of CDS 1464
coding sequence (CDS) position 713
cDNA position
(for ins/del: last normal base / first normal base)		 713
gDNA position
(for ins/del: last normal base / first normal base)		 5621
chromosomal position
(for ins/del: last normal base / first normal base)		 55672470
original gDNA sequence snippet CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA
altered gDNA sequence snippet CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA
original cDNA sequence snippet CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA
altered cDNA sequence snippet CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA
wildtype AA sequence MKMRAQIPES LREEGIEILK PQFFVLENNL EAVARHMLIF SLALEEPEKM GLQERSETFL
EVWGNALLRP PVAAFVRAQA DLLAHLVPEP DRLEEQLPWL SLRALKFRER DALEAVFRFW
AGGEKGPQAF PMSRLWDSRL RHYLGSRYDA RRGVSDWDLR MKLHDRGAQV IHPQEFRRWR
DTGVAFELRD SSAYHVPNRT LASGRLLSYR GERVAARGYW GDIATGPFVA FGIEADDESL
LRTSNGQPVK TAGEITQHNV TELLRDVAAW GRARATGGDL EEQQHAEGSP EPGTPAAPTP
ESFTVHFLPL DSAQTLHHKS CYNGRFQLLY VACGMVHLLI PELGACVAPG GNLIVELARY
LVDVRQEQLQ GFNTRVRELA QAAGFAPQTG ARPSETFARF CKSQESALGN TVPAVEPGTP
PLDILAQPLE ASNPALEGLT QPLQGGTPHC EPCQLPSESP GSLSEVLAQP QGALAPPNCE
SDSKTGV*
mutated AA sequence MKMRAQIPES LREEGIEILK PQFFVLENNL EAVARHMLIF SLALEEPEKM GLQERSETFL
EVWGNALLRP PVAAFVRAQA DLLAHLVPEP DRLEEQLPWL SLRALKFRER DALEAVFRFW
AGGEKGPQAF PMSRLWDSRL RHYLGSRYDA RRGVSDWDLR MKLHDRGAQV IHPQEFRRWR
DTGVAFELRD SSAYHVPNRT LASGRLLSYR GERVAARGYW GDIATGPFVA FGIEADDGSL
LRTSNGQPVK TAGEITQHNV TELLRDVAAW GRARATGGDL EEQQHAEGSP EPGTPAAPTP
ESFTVHFLPL DSAQTLHHKS CYNGRFQLLY VACGMVHLLI PELGACVAPG GNLIVELARY
LVDVRQEQLQ GFNTRVRELA QAAGFAPQTG ARPSETFARF CKSQESALGN TVPAVEPGTP
PLDILAQPLE ASNPALEGLT QPLQGGTPHC EPCQLPSESP GSLSEVLAQP QGALAPPNCE
SDSKTGV*
speed 1.27 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