Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000268624
Querying Taster for transcript #2: ENST00000315906
MT speed 3.26 s - this script 8.099476 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ADAD2polymorphism_automatic3.29736238313671e-14simple_aaeaffectedG44Esingle base exchangers8044695show file
ADAD2polymorphism_automatic9.23039422673355e-13simple_aaeaffectedG44Esingle base exchangers8044695show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999967 (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) chr16:84224967G>AN/A show variant in all transcripts   IGV
HGNC symbol ADAD2
Ensembl transcript ID ENST00000268624
Genbank transcript ID NM_139174
UniProt peptide Q8NCV1
alteration type single base exchange
alteration region CDS
DNA changes c.131G>A
cDNA.224G>A
g.224G>A
AA changes G44E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS
44
frameshift no
known variant Reference ID: rs8044695
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC17781-279514986
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0540
-0.5140
(flanking)1.4560.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained2190.40mu: AGTGCCTGGGAGCCC TGCC|tggg
distance from splice site 224
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      44RPLPAQAQSAWGPAPAPATYRAEG
mutated  not conserved    44RPLPAQAQSAWEPAPAPATYRAE
Ptroglodytes  not conserved  ENSPTRG00000008412  44RPLPAQAQSAWEPAPAPATYRAE
Mmulatta  not conserved  ENSMMUG00000019188  44RPLPPQAQGAW--EPAPAMDHAE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000024266  39----------WKPS---------
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000075906  n/a
Dmelanogaster  no homologue    
Celegans  no alignment  D2005.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
115181DOMAINDRBM.might get lost (downstream of altered splice site)
261582DOMAINA to I editase.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1998 / 1998
position (AA) of stopcodon in wt / mu AA sequence 666 / 666
position of stopcodon in wt / mu cDNA 2091 / 2091
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 94 / 94
chromosome 16
strand 1
last intron/exon boundary 1987
theoretical NMD boundary in CDS 1843
length of CDS 1998
coding sequence (CDS) position 131
cDNA position
(for ins/del: last normal base / first normal base)
224
gDNA position
(for ins/del: last normal base / first normal base)
224
chromosomal position
(for ins/del: last normal base / first normal base)
84224967
original gDNA sequence snippet CCAGGCCCAAAGTGCCTGGGGGCCCGCGCCCGCGCCCGCGA
altered gDNA sequence snippet CCAGGCCCAAAGTGCCTGGGAGCCCGCGCCCGCGCCCGCGA
original cDNA sequence snippet CCAGGCCCAAAGTGCCTGGGGGCCCGCGCCCGCGCCCGCGA
altered cDNA sequence snippet CCAGGCCCAAAGTGCCTGGGAGCCCGCGCCCGCGCCCGCGA
wildtype AA sequence MASASQGADD DGSRRKPRLA ASLQISPQPR PWRPLPAQAQ SAWGPAPAPA TYRAEGGWPQ
VSVLRDSGPG AGAGVGELGA ARAWENLGEQ MGKAPRVPVP PAGLSLPLKD PPASQAVSLL
TEYAASLGIF LLFREDQPPG KVFKYRAPGG EELKAMCLWQ VEVLRAFLLR TGWRGLWRGD
LDLGPDSSWA NRLPFLLICE MESRIPAVEE LGPCFPFSVS AELDGVVCPA GTANSKTEAK
QQAALSALCY IRSQLENPES PQTSSRPPLA PLSVENILTH EQRCAALVSA GFDLLLDERS
PYWACKGTVA GVILERGWAV SAPSCTEIPR ARGHVKEIYK LVALGTGSSC CAGWLEFSGQ
QLHDCHGLVI ARRALLRFLF RQLLLATQGG PKGKEQSVLA PQPGPGPPFT LKPRVFLHLY
ISNTPKGAAR DIYLPPTSEG GLPHSPPMRL QAHVLGQLKP VCYVAPSLCD THVGCLSASD
KLARWAVLGL GGALLAHLVS PLYSTSLILA DSCHDPPTLS RAIHTRPCLD SVLGPCLPPP
YVRTALHLFA GPPVAPSEPT PDTCRGLSLN WSLGDPGIEV VDVATGRVKA NAALGPPSRL
CKASFLRAFH QAARAVGKPY LLALKTYEAA KAGPYQEARR QLSLLLDQQG LGAWPSKPLV
GKFRN*
mutated AA sequence MASASQGADD DGSRRKPRLA ASLQISPQPR PWRPLPAQAQ SAWEPAPAPA TYRAEGGWPQ
VSVLRDSGPG AGAGVGELGA ARAWENLGEQ MGKAPRVPVP PAGLSLPLKD PPASQAVSLL
TEYAASLGIF LLFREDQPPG KVFKYRAPGG EELKAMCLWQ VEVLRAFLLR TGWRGLWRGD
LDLGPDSSWA NRLPFLLICE MESRIPAVEE LGPCFPFSVS AELDGVVCPA GTANSKTEAK
QQAALSALCY IRSQLENPES PQTSSRPPLA PLSVENILTH EQRCAALVSA GFDLLLDERS
PYWACKGTVA GVILERGWAV SAPSCTEIPR ARGHVKEIYK LVALGTGSSC CAGWLEFSGQ
QLHDCHGLVI ARRALLRFLF RQLLLATQGG PKGKEQSVLA PQPGPGPPFT LKPRVFLHLY
ISNTPKGAAR DIYLPPTSEG GLPHSPPMRL QAHVLGQLKP VCYVAPSLCD THVGCLSASD
KLARWAVLGL GGALLAHLVS PLYSTSLILA DSCHDPPTLS RAIHTRPCLD SVLGPCLPPP
YVRTALHLFA GPPVAPSEPT PDTCRGLSLN WSLGDPGIEV VDVATGRVKA NAALGPPSRL
CKASFLRAFH QAARAVGKPY LLALKTYEAA KAGPYQEARR QLSLLLDQQG LGAWPSKPLV
GKFRN*
speed 1.52 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
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999077 (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) chr16:84224967G>AN/A show variant in all transcripts   IGV
HGNC symbol ADAD2
Ensembl transcript ID ENST00000315906
Genbank transcript ID NM_001145400
UniProt peptide Q8NCV1
alteration type single base exchange
alteration region CDS
DNA changes c.131G>A
cDNA.183G>A
g.224G>A
AA changes G44E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS
44
frameshift no
known variant Reference ID: rs8044695
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC17781-279514986
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0540
-0.5140
(flanking)1.4560.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained2190.40mu: AGTGCCTGGGAGCCC TGCC|tggg
distance from splice site 183
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      44RPLPAQAQSAWGPAPAPATYRAEG
mutated  not conserved    44RPLPAQAQSAWEPAPAPATYRAE
Ptroglodytes  not conserved  ENSPTRG00000008412  44RPLPAQAQSAWEPAPAPATYRAE
Mmulatta  not conserved  ENSMMUG00000019188  44RPLPPQAQGAW--EPAPAMDHAE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000024266  39KPSGGQEPTEAGDA-APRT--AE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000075906  n/a
Dmelanogaster  no homologue    
Celegans  no alignment  D2005.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
115181DOMAINDRBM.might get lost (downstream of altered splice site)
261582DOMAINA to I editase.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1752 / 1752
position (AA) of stopcodon in wt / mu AA sequence 584 / 584
position of stopcodon in wt / mu cDNA 1804 / 1804
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 53 / 53
chromosome 16
strand 1
last intron/exon boundary 1700
theoretical NMD boundary in CDS 1597
length of CDS 1752
coding sequence (CDS) position 131
cDNA position
(for ins/del: last normal base / first normal base)
183
gDNA position
(for ins/del: last normal base / first normal base)
224
chromosomal position
(for ins/del: last normal base / first normal base)
84224967
original gDNA sequence snippet CCAGGCCCAAAGTGCCTGGGGGCCCGCGCCCGCGCCCGCGA
altered gDNA sequence snippet CCAGGCCCAAAGTGCCTGGGAGCCCGCGCCCGCGCCCGCGA
original cDNA sequence snippet CCAGGCCCAAAGTGCCTGGGGGCCCGCGCCCGCGCCCGCGA
altered cDNA sequence snippet CCAGGCCCAAAGTGCCTGGGAGCCCGCGCCCGCGCCCGCGA
wildtype AA sequence MASASQGADD DGSRRKPRLA ASLQISPQPR PWRPLPAQAQ SAWGPAPAPA TYRAEGGWPQ
VSVLRDSGPG AGAGVGELGA ARAWENLGEQ MGKAPRVPVP PAGLSLPLKD PPASQAVSLL
TEYAASLGIF LLFREDQPPG PCFPFSVSAE LDGVVCPAGT ANSKTEAKQQ AALSALCYIR
SQLENPESPQ TSSRPPLAPL SVENILTHEQ RCAALVSAGF DLLLDERSPY WACKGTVAGV
ILEREIPRAR GHVKEIYKLV ALGTGSSCCA GWLEFSGQQL HDCHGLVIAR RALLRFLFRQ
LLLATQGGPK GKEQSVLAPQ PGPGPPFTLK PRVFLHLYIS NTPKGAARDI YLPPTSEGGL
PHSPPMRLQA HVLGQLKPVC YVAPSLCDTH VGCLSASDKL ARWAVLGLGG ALLAHLVSPL
YSTSLILADS CHDPPTLSRA IHTRPCLDSV LGPCLPPPYV RTALHLFAGP PVAPSEPTPD
TCRGLSLNWS LGDPGIEVVD VATGRVKANA ALGPPSRLCK ASFLRAFHQA ARAVGKPYLL
ALKTYEAAKA GPYQEARRQL SLLLDQQGLG AWPSKPLVGK FRN*
mutated AA sequence MASASQGADD DGSRRKPRLA ASLQISPQPR PWRPLPAQAQ SAWEPAPAPA TYRAEGGWPQ
VSVLRDSGPG AGAGVGELGA ARAWENLGEQ MGKAPRVPVP PAGLSLPLKD PPASQAVSLL
TEYAASLGIF LLFREDQPPG PCFPFSVSAE LDGVVCPAGT ANSKTEAKQQ AALSALCYIR
SQLENPESPQ TSSRPPLAPL SVENILTHEQ RCAALVSAGF DLLLDERSPY WACKGTVAGV
ILEREIPRAR GHVKEIYKLV ALGTGSSCCA GWLEFSGQQL HDCHGLVIAR RALLRFLFRQ
LLLATQGGPK GKEQSVLAPQ PGPGPPFTLK PRVFLHLYIS NTPKGAARDI YLPPTSEGGL
PHSPPMRLQA HVLGQLKPVC YVAPSLCDTH VGCLSASDKL ARWAVLGLGG ALLAHLVSPL
YSTSLILADS CHDPPTLSRA IHTRPCLDSV LGPCLPPPYV RTALHLFAGP PVAPSEPTPD
TCRGLSLNWS LGDPGIEVVD VATGRVKANA ALGPPSRLCK ASFLRAFHQA ARAVGKPYLL
ALKTYEAAKA GPYQEARRQL SLLLDQQGLG AWPSKPLVGK FRN*
speed 1.74 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
back to results table

Problems