Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999962 (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) chr19:45912406G>AN/A show variant in all transcripts   IGV
HGNC symbol CD3EAP
Ensembl transcript ID ENST00000309424
Genbank transcript ID NM_012099
UniProt peptide O15446
alteration type single base exchange
alteration region CDS
DNA changes c.1180G>A
cDNA.1668G>A
g.2940G>A
AA changes D394N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 394
frameshift no
known variant Reference ID: rs2336219
databasehomozygous (A/A)heterozygousallele carriers
1000G2339491182
ExAC31231867521798
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.0650
-0.2780
(flanking)-0.4870
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased2943wt: 0.33 / mu: 0.43wt: AAGATGCCACAGTGG
mu: AAAATGCCACAGTGG		 GATG|ccac
Donor increased2937wt: 0.32 / mu: 0.36wt: AACAGCAAGATGCCA
mu: AACAGCAAAATGCCA		 CAGC|aaga
Donor marginally increased2935wt: 0.9549 / mu: 0.9983 (marginal change - not scored)wt: AAAACAGCAAGATGC
mu: AAAACAGCAAAATGC		 AACA|gcaa
Donor increased2942wt: 0.61 / mu: 0.73wt: CAAGATGCCACAGTG
mu: CAAAATGCCACAGTG		 AGAT|gcca
Donor gained29360.78mu: AAACAGCAAAATGCC ACAG|caaa
distance from splice site 1016
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      394PKKKTKKEKQQDATVEPETEVVGP
mutated  all conserved    394PKKKTKKEKQQNATVEPETEVVG
Ptroglodytes  all conserved  ENSPTRG00000011151  394PKKKTKKEKQQNATVEPETEVVG
Mmulatta  all conserved  ENSMMUG00000000717  395PKKKRKKDKQQNATVEPETEVVE
Fcatus  all identical  ENSFCAG00000007439  354AKKRRKKEKRQDETVEPGAEAVE
Mmusculus  not conserved  ENSMUSG00000047649  372PKKTKKKKGKRVG----ETEAA-
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000090386  250KKEKERENPDMVDASLFLKTEQLD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
422422CONFLICTMissing (in Ref. 3; AAI08890).might get lost (downstream of altered splice site)
422428COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
488488MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
490490MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
504508COMPBIASPoly-Gln.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1533 / 1533
position (AA) of stopcodon in wt / mu AA sequence 511 / 511
position of stopcodon in wt / mu cDNA 2021 / 2021
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 489 / 489
chromosome 19
strand 1
last intron/exon boundary 653
theoretical NMD boundary in CDS 114
length of CDS 1533
coding sequence (CDS) position 1180
cDNA position
(for ins/del: last normal base / first normal base)		 1668
gDNA position
(for ins/del: last normal base / first normal base)		 2940
chromosomal position
(for ins/del: last normal base / first normal base)		 45912406
original gDNA sequence snippet CGAAGAAAGAAAAACAGCAAGATGCCACAGTGGAGCCAGAG
altered gDNA sequence snippet CGAAGAAAGAAAAACAGCAAAATGCCACAGTGGAGCCAGAG
original cDNA sequence snippet CGAAGAAAGAAAAACAGCAAGATGCCACAGTGGAGCCAGAG
altered cDNA sequence snippet CGAAGAAAGAAAAACAGCAAAATGCCACAGTGGAGCCAGAG
wildtype AA sequence MEEPQAGDAA RFSCPPNFTA KPPASESPRF SLEALTGPDT ELWLIQAPAD FAPECFNGRH
VPLSGSQIVK GKLAGKRHRY RVLSSCPQAG EATLLAPSTE AGGGLTCASA PQGTLRILEG
PQQSLSGSPL QPIPASPPPQ IPPGLRPRFC AFGGNPPVTG PRSALAPNLL TSGKKKKEMQ
VTEAPVTQEA VNGHGALEVD MALGSPEMDV RKKKKKKNQQ LKEPEAAGPV GTEPTVETLE
PLGVLFPSTT KKRKKPKGKE TFEPEDKTVK QEQINTEPLE DTVLSPTKKR KRQKGTEGME
PEEGVTVESQ PQVKVEPLEE AIPLPPTKKR KKEKGQMAMM EPGTEAMEPV EPEMKPLESP
GGTMAPQQPE GAKPQAQAAL AAPKKKTKKE KQQDATVEPE TEVVGPELPD DLEPQAAPTS
TKKKKKKKER GHTVTEPIQP LEPELPGEGQ PEARATPGST KKRKKQSQES RMPETVPQEE
MPGPPLNSES GEEAPTGRDK KRKQQQQQPV *
mutated AA sequence MEEPQAGDAA RFSCPPNFTA KPPASESPRF SLEALTGPDT ELWLIQAPAD FAPECFNGRH
VPLSGSQIVK GKLAGKRHRY RVLSSCPQAG EATLLAPSTE AGGGLTCASA PQGTLRILEG
PQQSLSGSPL QPIPASPPPQ IPPGLRPRFC AFGGNPPVTG PRSALAPNLL TSGKKKKEMQ
VTEAPVTQEA VNGHGALEVD MALGSPEMDV RKKKKKKNQQ LKEPEAAGPV GTEPTVETLE
PLGVLFPSTT KKRKKPKGKE TFEPEDKTVK QEQINTEPLE DTVLSPTKKR KRQKGTEGME
PEEGVTVESQ PQVKVEPLEE AIPLPPTKKR KKEKGQMAMM EPGTEAMEPV EPEMKPLESP
GGTMAPQQPE GAKPQAQAAL AAPKKKTKKE KQQNATVEPE TEVVGPELPD DLEPQAAPTS
TKKKKKKKER GHTVTEPIQP LEPELPGEGQ PEARATPGST KKRKKQSQES RMPETVPQEE
MPGPPLNSES GEEAPTGRDK KRKQQQQQPV *
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