Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999974 (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) chr19:41383217T>CN/A show variant in all transcripts   IGV
HGNC symbol CYP2A7
Ensembl transcript ID ENST00000291764
Genbank transcript ID NM_030589
UniProt peptide P20853
alteration type single base exchange
alteration region CDS
DNA changes c.886A>G
cDNA.1428A>G
g.5441A>G
AA changes T296A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 296
frameshift no
known variant Reference ID: rs2302987
databasehomozygous (C/C)heterozygousallele carriers
1000G112706818
ExAC34071879622203
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6310.001
-0.8690
(flanking)-1.3380.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5433wt: 0.2038 / mu: 0.2103 (marginal change - not scored)wt: GTTTGAGGACCGGAC
mu: GTTTGAGGACCGGGC		 TTGA|ggac
Donor marginally increased5440wt: 0.9294 / mu: 0.9969 (marginal change - not scored)wt: GACCGGACCAAGATG
mu: GACCGGGCCAAGATG		 CCGG|acca
distance from splice site 66
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      296GKNRQPKFEDRTKMPYMEAVIHEI
mutated  not conserved    296GKNRQPKFEDRAKMPY
Ptroglodytes  all identical  ENSPTRG00000033800  243KNRQPKFEDRTKMPYMEAVIHE
Mmulatta  not conserved  ENSMMUG00000021068  347GKNRQPKFEDRVKMPYMEAVIHE
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000018696  349GRSRRPCMDDRAKMPYTEAVIHE
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1332 / 1332
position (AA) of stopcodon in wt / mu AA sequence 444 / 444
position of stopcodon in wt / mu cDNA 1874 / 1874
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 543 / 543
chromosome 19
strand -1
last intron/exon boundary 1693
theoretical NMD boundary in CDS 1100
length of CDS 1332
coding sequence (CDS) position 886
cDNA position
(for ins/del: last normal base / first normal base)		 1428
gDNA position
(for ins/del: last normal base / first normal base)		 5441
chromosomal position
(for ins/del: last normal base / first normal base)		 41383217
original gDNA sequence snippet AGCCCAAGTTTGAGGACCGGACCAAGATGCCCTACATGGAG
altered gDNA sequence snippet AGCCCAAGTTTGAGGACCGGGCCAAGATGCCCTACATGGAG
original cDNA sequence snippet AGCCCAAGTTTGAGGACCGGACCAAGATGCCCTACATGGAG
altered cDNA sequence snippet AGCCCAAGTTTGAGGACCGGGCCAAGATGCCCTACATGGAG
wildtype AA sequence MLASGLLLVA LLACLTVMVL MSVWQQRKSR GKLPPGPTPL PFIGNYLQLN TEHICDSIMK
VSQGVAFSNG ERAKQLLRFA IATLRDFGVG KRGIEERIQE ESGFLIEAIR STHGANIDPT
FFLSRTVSNV ISSIVFGDRF DYEDKEFLSL LSMMLGIFQF TSTSTGQLYE MFSSVMKHLP
GPQQQAFKLL QGLEDFIAKK VEHNQRTLDP NSPQDFIDSF LIHMQEEEKN PNTEFYLKNL
MMSTLNLFIA GTETVSTTLR YGFLLLMKHP EVEAKVHEEI DRVIGKNRQP KFEDRTKMPY
MEAVIHEIQR FGDVIPMSLA RRVKKDTKFR DFFLPKGTEV FPMLGSVLRD PSFFSNPQDF
NPQHFLDDKG QFKKSDAFVP FSIGKRNCFG EGLARMELFL FFTTVMQNFR LKSSQSPKDI
DVSPKHVVFA TIPRNYTMSF LPR*
mutated AA sequence MLASGLLLVA LLACLTVMVL MSVWQQRKSR GKLPPGPTPL PFIGNYLQLN TEHICDSIMK
VSQGVAFSNG ERAKQLLRFA IATLRDFGVG KRGIEERIQE ESGFLIEAIR STHGANIDPT
FFLSRTVSNV ISSIVFGDRF DYEDKEFLSL LSMMLGIFQF TSTSTGQLYE MFSSVMKHLP
GPQQQAFKLL QGLEDFIAKK VEHNQRTLDP NSPQDFIDSF LIHMQEEEKN PNTEFYLKNL
MMSTLNLFIA GTETVSTTLR YGFLLLMKHP EVEAKVHEEI DRVIGKNRQP KFEDRAKMPY
MEAVIHEIQR FGDVIPMSLA RRVKKDTKFR DFFLPKGTEV FPMLGSVLRD PSFFSNPQDF
NPQHFLDDKG QFKKSDAFVP FSIGKRNCFG EGLARMELFL FFTTVMQNFR LKSSQSPKDI
DVSPKHVVFA TIPRNYTMSF LPR*
speed 0.49 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