Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999997003 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032174)
  • known disease mutation: rs14818 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:154561144A>GN/A show variant in all transcripts   IGV
HGNC symbol ADAR
Ensembl transcript ID ENST00000368474
Genbank transcript ID NM_001111
UniProt peptide P55265
alteration type single base exchange
alteration region CDS
DNA changes c.2768T>C
cDNA.2968T>C
g.39332T>C
AA changes L923P Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 923
frameshift no
known variant Reference ID: rs28936680
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs14818 (pathogenic for Symmetrical dyschromatosis of extremities) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032174)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032174)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032174)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2511
3.8411
(flanking)2.9741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased39323wt: 0.43 / mu: 0.48wt: CCTAACCAGACTTTCTTTTTGTAGGTTTCTCTACAGTGAGT
mu: CCTAACCAGACTTTCTTTTTGTAGGTTTCCCTACAGTGAGT		 tttg|TAGG
Acc marginally increased39326wt: 0.9886 / mu: 0.9904 (marginal change - not scored)wt: AACCAGACTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAA
mu: AACCAGACTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAA		 gtag|GTTT
Acc marginally increased39333wt: 0.6358 / mu: 0.6632 (marginal change - not scored)wt: CTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAATGAAATA
mu: CTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAATGAAATA		 tctc|TACA
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      923EIISRRGFIRFLYSELMKYNSQTA
mutated  not conserved    923EIISRRGFIRFPYSELMKYNSQT
Ptroglodytes  all identical  ENSPTRG00000022833  966EIISRRGFIRFLYSELMKYNSQT
Mmulatta  all identical  ENSMMUG00000016093  921EIISRRGFIRFLYSELMKYNPQT
Fcatus  no alignment  ENSFCAG00000001341  n/a
Mmusculus  all identical  ENSMUSG00000027951  872EIISRRGFIRFLYSELMKYNHHT
Ggallus  all identical  ENSGALG00000021475  549EIISRRGFVRFLYSELMKYDPCKPS
Trubripes  all identical  ENSTRUG00000008870  971EIISRRGFVRFLYSEILKYQDGN
Drerio  all identical  ENSDARG00000012389  1041SRRGFIRFLYSELMKHWESP
Dmelanogaster  no homologue    
Celegans  all identical  T20H4.4  206EILARRGLLRFLYSE
Xtropicalis  all conserved  ENSXETG00000003848  797GFISNTIXSQLMKYNPDM
protein features
start (aa)end (aa)featuredetails 
8861221DOMAINA to I editase.lost
966966METALZinc (By similarity).might get lost (downstream of altered splice site)
10361036METALZinc (By similarity).might get lost (downstream of altered splice site)
10931093CONFLICTD -> G (in Ref. 5; CAE45853).might get lost (downstream of altered splice site)
11841184CONFLICTE -> K (in Ref. 4; CAA55967/CAA55968/ CAA67169/CAA67170).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3681 / 3681
position (AA) of stopcodon in wt / mu AA sequence 1227 / 1227
position of stopcodon in wt / mu cDNA 3881 / 3881
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 201 / 201
chromosome 1
strand -1
last intron/exon boundary 3644
theoretical NMD boundary in CDS 3393
length of CDS 3681
coding sequence (CDS) position 2768
cDNA position
(for ins/del: last normal base / first normal base)		 2968
gDNA position
(for ins/del: last normal base / first normal base)		 39332
chromosomal position
(for ins/del: last normal base / first normal base)		 154561144
original gDNA sequence snippet ACTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAATGAAAT
altered gDNA sequence snippet ACTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAATGAAAT
original cDNA sequence snippet GAGAGGCTTCATCAGGTTTCTCTACAGTGAGTTAATGAAAT
altered cDNA sequence snippet GAGAGGCTTCATCAGGTTTCCCTACAGTGAGTTAATGAAAT
wildtype AA sequence MNPRQGYSLS GYYTHPFQGY EHRQLRYQQP GPGSSPSSFL LKQIEFLKGQ LPEAPVIGKQ
TPSLPPSLPG LRPRFPVLLA SSTRGRQVDI RGVPRGVHLR SQGLQRGFQH PSPRGRSLPQ
RGVDCLSSHF QELSIYQDQE QRILKFLEEL GEGKATTAHD LSGKLGTPKK EINRVLYSLA
KKGKLQKEAG TPPLWKIAVS TQAWNQHSGV VRPDGHSQGA PNSDPSLEPE DRNSTSVSED
LLEPFIAVSA QAWNQHSGVV RPDSHSQGSP NSDPGLEPED SNSTSALEDP LEFLDMAEIK
EKICDYLFNV SDSSALNLAK NIGLTKARDI NAVLIDMERQ GDVYRQGTTP PIWHLTDKKR
ERMQIKRNTN SVPETAPAAI PETKRNAEFL TCNIPTSNAS NNMVTTEKVE NGQEPVIKLE
NRQEARPEPA RLKPPVHYNG PSKAGYVDFE NGQWATDDIP DDLNSIRAAP GEFRAIMEMP
SFYSHGLPRC SPYKKLTECQ LKNPISGLLE YAQFASQTCE FNMIEQSGPP HEPRFKFQVV
INGREFPPAE AGSKKVAKQD AAMKAMTILL EEAKAKDSGK SEESSHYSTE KESEKTAESQ
TPTPSATSFF SGKSPVTTLL ECMHKLGNSC EFRLLSKEGP AHEPKFQYCV AVGAQTFPSV
SAPSKKVAKQ MAAEEAMKAL HGEATNSMAS DNQPEGMISE SLDNLESMMP NKVRKIGELV
RYLNTNPVGG LLEYARSHGF AAEFKLVDQS GPPHEPKFVY QAKVGGRWFP AVCAHSKKQG
KQEAADAALR VLIGENEKAE RMGFTEVTPV TGASLRRTML LLSRSPEAQP KTLPLTGSTF
HDQIAMLSHR CFNTLTNSFQ PSLLGRKILA AIIMKKDSED MGVVVSLGTG NRCVKGDSLS
LKGETVNDCH AEIISRRGFI RFLYSELMKY NSQTAKDSIF EPAKGGEKLQ IKKTVSFHLY
ISTAPCGDGA LFDKSCSDRA MESTESRHYP VFENPKQGKL RTKVENGEGT IPVESSDIVP
TWDGIRLGER LRTMSCSDKI LRWNVLGLQG ALLTHFLQPI YLKSVTLGYL FSQGHLTRAI
CCRVTRDGSA FEDGLRHPFI VNHPKVGRVS IYDSKRQSGK TKETSVNWCL ADGYDLEILD
GTRGTVDGPR NELSRVSKKN IFLLFKKLCS FRYRRDLLRL SYGEAKKAAR DYETAKNYFK
KGLKDMGYGN WISKPQEEKN FYLCPV*
mutated AA sequence MNPRQGYSLS GYYTHPFQGY EHRQLRYQQP GPGSSPSSFL LKQIEFLKGQ LPEAPVIGKQ
TPSLPPSLPG LRPRFPVLLA SSTRGRQVDI RGVPRGVHLR SQGLQRGFQH PSPRGRSLPQ
RGVDCLSSHF QELSIYQDQE QRILKFLEEL GEGKATTAHD LSGKLGTPKK EINRVLYSLA
KKGKLQKEAG TPPLWKIAVS TQAWNQHSGV VRPDGHSQGA PNSDPSLEPE DRNSTSVSED
LLEPFIAVSA QAWNQHSGVV RPDSHSQGSP NSDPGLEPED SNSTSALEDP LEFLDMAEIK
EKICDYLFNV SDSSALNLAK NIGLTKARDI NAVLIDMERQ GDVYRQGTTP PIWHLTDKKR
ERMQIKRNTN SVPETAPAAI PETKRNAEFL TCNIPTSNAS NNMVTTEKVE NGQEPVIKLE
NRQEARPEPA RLKPPVHYNG PSKAGYVDFE NGQWATDDIP DDLNSIRAAP GEFRAIMEMP
SFYSHGLPRC SPYKKLTECQ LKNPISGLLE YAQFASQTCE FNMIEQSGPP HEPRFKFQVV
INGREFPPAE AGSKKVAKQD AAMKAMTILL EEAKAKDSGK SEESSHYSTE KESEKTAESQ
TPTPSATSFF SGKSPVTTLL ECMHKLGNSC EFRLLSKEGP AHEPKFQYCV AVGAQTFPSV
SAPSKKVAKQ MAAEEAMKAL HGEATNSMAS DNQPEGMISE SLDNLESMMP NKVRKIGELV
RYLNTNPVGG LLEYARSHGF AAEFKLVDQS GPPHEPKFVY QAKVGGRWFP AVCAHSKKQG
KQEAADAALR VLIGENEKAE RMGFTEVTPV TGASLRRTML LLSRSPEAQP KTLPLTGSTF
HDQIAMLSHR CFNTLTNSFQ PSLLGRKILA AIIMKKDSED MGVVVSLGTG NRCVKGDSLS
LKGETVNDCH AEIISRRGFI RFPYSELMKY NSQTAKDSIF EPAKGGEKLQ IKKTVSFHLY
ISTAPCGDGA LFDKSCSDRA MESTESRHYP VFENPKQGKL RTKVENGEGT IPVESSDIVP
TWDGIRLGER LRTMSCSDKI LRWNVLGLQG ALLTHFLQPI YLKSVTLGYL FSQGHLTRAI
CCRVTRDGSA FEDGLRHPFI VNHPKVGRVS IYDSKRQSGK TKETSVNWCL ADGYDLEILD
GTRGTVDGPR NELSRVSKKN IFLLFKKLCS FRYRRDLLRL SYGEAKKAAR DYETAKNYFK
KGLKDMGYGN WISKPQEEKN FYLCPV*
speed 0.75 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