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 ENST00000589804
Genbank transcript ID N/A
UniProt peptide O15446
alteration type single base exchange
alteration region CDS
DNA changes c.1186G>A
cDNA.1192G>A
g.2940G>A
AA changes D396N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 396
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 639
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      396PKKKTKKEKQQDATVEPETEVVGP
mutated  all conserved    396PKKKTKKEKQQNATVEPETEVVG
Ptroglodytes  all conserved  ENSPTRG00000011151  394PKKKTKKEKQQNATVEPETEVVG
Mmulatta  all conserved  ENSMMUG00000000717  395PKKKRKKDKQQNATVEPETEVVE
Fcatus  all identical  ENSFCAG00000007439  354AKKRRKKEKRQDETVEPGAEAVE
Mmusculus  not conserved  ENSMUSG00000047649  371PKKTKKKKGKRVG----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 1539 / 1539
position (AA) of stopcodon in wt / mu AA sequence 513 / 513
position of stopcodon in wt / mu cDNA 1545 / 1545
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 7 / 7
chromosome 19
strand 1
last intron/exon boundary 177
theoretical NMD boundary in CDS 120
length of CDS 1539
coding sequence (CDS) position 1186
cDNA position
(for ins/del: last normal base / first normal base)		 1192
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 MEEPQAGGED AARFSCPPNF TAKPPASESP RFSLEALTGP DTELWLIQAP ADFAPECFNG
RHVPLSGSQI VKGKLAGKRH RYRVLSSCPQ AGEATLLAPS TEAGGGLTCA SAPQGTLRIL
EGPQQSLSGS PLQPIPASPP PQIPPGLRPR FCAFGGNPPV TGPRSALAPN LLTSGKKKKE
MQVTEAPVTQ EAVNGHGALE VDMALGSPEM DVRKKKKKKN QQLKEPEAAG PVGTEPTVET
LEPLGVLFPS TTKKRKKPKG KETFEPEDKT VKQEQINTEP LEDTVLSPTK KRKRQKGTEG
MEPEEGVTVE SQPQVKVEPL EEAIPLPPTK KRKKEKGQMA MMEPGTEAME PVEPEMKPLE
SPGGTMAPQQ PEGAKPQAQA ALAAPKKKTK KEKQQDATVE PETEVVGPEL PDDLEPQAAP
TSTKKKKKKK ERGHTVTEPI QPLEPELPGE GQPEARATPG STKKRKKQSQ ESRMPETVPQ
EEMPGPPLNS ESGEEAPTGR DKKRKQQQQQ PV*
mutated AA sequence MEEPQAGGED AARFSCPPNF TAKPPASESP RFSLEALTGP DTELWLIQAP ADFAPECFNG
RHVPLSGSQI VKGKLAGKRH RYRVLSSCPQ AGEATLLAPS TEAGGGLTCA SAPQGTLRIL
EGPQQSLSGS PLQPIPASPP PQIPPGLRPR FCAFGGNPPV TGPRSALAPN LLTSGKKKKE
MQVTEAPVTQ EAVNGHGALE VDMALGSPEM DVRKKKKKKN QQLKEPEAAG PVGTEPTVET
LEPLGVLFPS TTKKRKKPKG KETFEPEDKT VKQEQINTEP LEDTVLSPTK KRKRQKGTEG
MEPEEGVTVE SQPQVKVEPL EEAIPLPPTK KRKKEKGQMA MMEPGTEAME PVEPEMKPLE
SPGGTMAPQQ PEGAKPQAQA ALAAPKKKTK KEKQQNATVE PETEVVGPEL PDDLEPQAAP
TSTKKKKKKK ERGHTVTEPI QPLEPELPGE GQPEARATPG STKKRKKQSQ ESRMPETVPQ
EEMPGPPLNS ESGEEAPTGR DKKRKQQQQQ PV*
speed 1.24 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