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 ENST00000301146
Genbank transcript ID NM_000764
UniProt peptide P20853
alteration type single base exchange
alteration region CDS
DNA changes c.1039A>G
cDNA.1581A>G
g.5441A>G
AA changes T347A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 347
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      347GKNRQPKFEDRTKMPYMEAVIHEI
mutated  not conserved    347GKNRQPKFEDRAKMPYMEAVIHE
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 1485 / 1485
position (AA) of stopcodon in wt / mu AA sequence 495 / 495
position of stopcodon in wt / mu cDNA 2027 / 2027
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 1846
theoretical NMD boundary in CDS 1253
length of CDS 1485
coding sequence (CDS) position 1039
cDNA position
(for ins/del: last normal base / first normal base)		 1581
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
FSECYGPVFT IHLGPRRVVV LCGHDAVREA LVDQAEEFSG RGEQATFDWV FKGYGVAFSN
GERAKQLLRF AIATLRDFGV GKRGIEERIQ EESGFLIEAI RSTHGANIDP TFFLSRTVSN
VISSIVFGDR FDYEDKEFLS LLSMMLGIFQ FTSTSTGQLY EMFSSVMKHL PGPQQQAFKL
LQGLEDFIAK KVEHNQRTLD PNSPQDFIDS FLIHMQEEEK NPNTEFYLKN LMMSTLNLFI
AGTETVSTTL RYGFLLLMKH PEVEAKVHEE IDRVIGKNRQ PKFEDRTKMP YMEAVIHEIQ
RFGDVIPMSL ARRVKKDTKF RDFFLPKGTE VFPMLGSVLR DPSFFSNPQD FNPQHFLDDK
GQFKKSDAFV PFSIGKRNCF GEGLARMELF LFFTTVMQNF RLKSSQSPKD IDVSPKHVVF
ATIPRNYTMS FLPR*
mutated AA sequence MLASGLLLVA LLACLTVMVL MSVWQQRKSR GKLPPGPTPL PFIGNYLQLN TEHICDSIMK
FSECYGPVFT IHLGPRRVVV LCGHDAVREA LVDQAEEFSG RGEQATFDWV FKGYGVAFSN
GERAKQLLRF AIATLRDFGV GKRGIEERIQ EESGFLIEAI RSTHGANIDP TFFLSRTVSN
VISSIVFGDR FDYEDKEFLS LLSMMLGIFQ FTSTSTGQLY EMFSSVMKHL PGPQQQAFKL
LQGLEDFIAK KVEHNQRTLD PNSPQDFIDS FLIHMQEEEK NPNTEFYLKN LMMSTLNLFI
AGTETVSTTL RYGFLLLMKH PEVEAKVHEE IDRVIGKNRQ PKFEDRAKMP YMEAVIHEIQ
RFGDVIPMSL ARRVKKDTKF RDFFLPKGTE VFPMLGSVLR DPSFFSNPQD FNPQHFLDDK
GQFKKSDAFV PFSIGKRNCF GEGLARMELF LFFTTVMQNF RLKSSQSPKD IDVSPKHVVF
ATIPRNYTMS FLPR*
speed 0.85 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