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 0.99 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