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MutationTaster - study a chromosomal position

MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000305988
MT speed 1.34 s - this script 7.576447 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ADRB2polymorphism_automatic2.87944195043188e-07simple_aaeE27Qsingle base exchangers1042714show file

Taster files

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Prediction

polymorphism

Model: simple_aae, prob: 0.999999712055805 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970061)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:148206473G>CN/A show variant in all transcripts   IGV
HGNC symbol ADRB2
Ensembl transcript ID ENST00000305988
Genbank transcript ID NM_000024
UniProt peptide P07550
alteration type single base exchange
alteration region CDS
DNA changes c.79G>C
cDNA.318G>C
g.318G>C
AA changes E27Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
27
frameshift no
known variant Reference ID: rs1042714
databasehomozygous (C/C)heterozygousallele carriers
1000G16117632374
ExAC29384-260013383

known disease mutation at this position, please check HGMD for details (HGMD ID CM970061)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6180.035
1.770.038
(flanking)0.250.008
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 increased323wt: 0.9536 / mu: 0.9760 (marginal change - not scored)wt: GAAAGGGACGAGGTG
mu: CAAAGGGACGAGGTG
 AAGG|gacg
Donor marginally increased316wt: 0.9957 / mu: 0.9981 (marginal change - not scored)wt: CACGCAGGAAAGGGA
mu: CACGCAGCAAAGGGA
 CGCA|ggaa
Donor marginally increased321wt: 0.9835 / mu: 0.9848 (marginal change - not scored)wt: AGGAAAGGGACGAGG
mu: AGCAAAGGGACGAGG
 GAAA|ggga
distance from splice site 318
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      27GSHAPDHDVTQERDEVWVVGMGIV
mutated  all conserved    27GSHAPDHDVTQQRDEVWVVGMGI
Ptroglodytes  all identical  ENSPTRG00000017391  27GSHAPDHDVTQERDEVWVVGMGI
Mmulatta  all identical  ENSMMUG00000002214  27GSHAPDHDVTQERDEAWVVGMGI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000045730  27GSRAPDHDVTQERDEAWVVGMAI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000054510  34EYSDAEVVLISI
Dmelanogaster  all conserved  FBgn0038063  140GAGLSDHHHHQQHNPDEDWLDNIVWVFKAF
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
134TOPO_DOMExtracellular.lost
2527STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1242 / 1242
position (AA) of stopcodon in wt / mu AA sequence 414 / 414
position of stopcodon in wt / mu cDNA 1481 / 1481
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 240 / 240
chromosome 5
strand 1
last intron/exon boundary 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1242
coding sequence (CDS) position 79
cDNA position
(for ins/del: last normal base / first normal base)
318
gDNA position
(for ins/del: last normal base / first normal base)
318
chromosomal position
(for ins/del: last normal base / first normal base)
148206473
original gDNA sequence snippet CGGACCACGACGTCACGCAGGAAAGGGACGAGGTGTGGGTG
altered gDNA sequence snippet CGGACCACGACGTCACGCAGCAAAGGGACGAGGTGTGGGTG
original cDNA sequence snippet CGGACCACGACGTCACGCAGGAAAGGGACGAGGTGTGGGTG
altered cDNA sequence snippet CGGACCACGACGTCACGCAGCAAAGGGACGAGGTGTGGGTG
wildtype AA sequence MGQPGNGSAF LLAPNGSHAP DHDVTQERDE VWVVGMGIVM SLIVLAIVFG NVLVITAIAK
FERLQTVTNY FITSLACADL VMGLAVVPFG AAHILMKMWT FGNFWCEFWT SIDVLCVTAS
IETLCVIAVD RYFAITSPFK YQSLLTKNKA RVIILMVWIV SGLTSFLPIQ MHWYRATHQE
AINCYANETC CDFFTNQAYA IASSIVSFYV PLVIMVFVYS RVFQEAKRQL QKIDKSEGRF
HVQNLSQVEQ DGRTGHGLRR SSKFCLKEHK ALKTLGIIMG TFTLCWLPFF IVNIVHVIQD
NLIRKEVYIL LNWIGYVNSG FNPLIYCRSP DFRIAFQELL CLRRSSLKAY GNGYSSNGNT
GEQSGYHVEQ EKENKLLCED LPGTEDFVGH QGTVPSDNID SQGRNCSTND SLL*
mutated AA sequence MGQPGNGSAF LLAPNGSHAP DHDVTQQRDE VWVVGMGIVM SLIVLAIVFG NVLVITAIAK
FERLQTVTNY FITSLACADL VMGLAVVPFG AAHILMKMWT FGNFWCEFWT SIDVLCVTAS
IETLCVIAVD RYFAITSPFK YQSLLTKNKA RVIILMVWIV SGLTSFLPIQ MHWYRATHQE
AINCYANETC CDFFTNQAYA IASSIVSFYV PLVIMVFVYS RVFQEAKRQL QKIDKSEGRF
HVQNLSQVEQ DGRTGHGLRR SSKFCLKEHK ALKTLGIIMG TFTLCWLPFF IVNIVHVIQD
NLIRKEVYIL LNWIGYVNSG FNPLIYCRSP DFRIAFQELL CLRRSSLKAY GNGYSSNGNT
GEQSGYHVEQ EKENKLLCED LPGTEDFVGH QGTVPSDNID SQGRNCSTND SLL*
speed 1.34 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
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