Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999844 (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 ENST00000292205
Genbank transcript ID N/A
UniProt peptide P55265
alteration type single base exchange
alteration region CDS
DNA changes c.2897T>C
cDNA.2897T>C
g.39332T>C
AA changes L966P Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 966
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      966EIISRRGFIRFLYSELMKYNSQTA
mutated  not conserved    966GFIRFPYSELMKYNSQT
Ptroglodytes  all identical  ENSPTRG00000022833  966GFIRFLYSELMKYNSQT
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).lost
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 3810 / 3810
position (AA) of stopcodon in wt / mu AA sequence 1270 / 1270
position of stopcodon in wt / mu cDNA 3810 / 3810
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 1 / 1
chromosome 1
strand -1
last intron/exon boundary 3573
theoretical NMD boundary in CDS 3522
length of CDS 3810
coding sequence (CDS) position 2897
cDNA position
(for ins/del: last normal base / first normal base)		 2897
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 MMSPICDQTI DSRLKVEKAT WWGRVGGGSR PHWQSPGVRP CPEEVQDPGY SLSGYYTHPF
QGYEHRQLRY QQPGPGSSPS SFLLKQIEFL KGQLPEAPVI GKQTPSLPPS LPGLRPRFPV
LLASSTRGRQ VDIRGVPRGV HLRSQGLQRG FQHPSPRGRS LPQRGVDCLS SHFQELSIYQ
DQEQRILKFL EELGEGKATT AHDLSGKLGT PKKEINRVLY SLAKKGKLQK EAGTPPLWKI
AVSTQAWNQH SGVVRPDGHS QGAPNSDPSL EPEDRNSTSV SEDLLEPFIA VSAQAWNQHS
GVVRPDSHSQ GSPNSDPGLE PEDSNSTSAL EDPLEFLDMA EIKEKICDYL FNVSDSSALN
LAKNIGLTKA RDINAVLIDM ERQGDVYRQG TTPPIWHLTD KKRERMQIKR NTNSVPETAP
AAIPETKRNA EFLTCNIPTS NASNNMVTTE KVENGQEPVI KLENRQEARP EPARLKPPVH
YNGPSKAGYV DFENGQWATD DIPDDLNSIR AAPGEFRAIM EMPSFYSHGL PRCSPYKKLT
ECQLKNPISG LLEYAQFASQ TCEFNMIEQS GPPHEPRFKF QVVINGREFP PAEAGSKKVA
KQDAAMKAMT ILLEEAKAKD SGKSEESSHY STEKESEKTA ESQTPTPSAT SFFSGKSPVT
TLLECMHKLG NSCEFRLLSK EGPAHEPKFQ YCVAVGAQTF PSVSAPSKKV AKQMAAEEAM
KALHGEATNS MASDNQPEGM ISESLDNLES MMPNKVRKIG ELVRYLNTNP VGGLLEYARS
HGFAAEFKLV DQSGPPHEPK FVYQAKVGGR WFPAVCAHSK KQGKQEAADA ALRVLIGENE
KAERMGFTEV TPVTGASLRR TMLLLSRSPE AQPKTLPLTG STFHDQIAML SHRCFNTLTN
SFQPSLLGRK ILAAIIMKKD SEDMGVVVSL GTGNRCVKGD SLSLKGETVN DCHAEIISRR
GFIRFLYSEL MKYNSQTAKD SIFEPAKGGE KLQIKKTVSF HLYISTAPCG DGALFDKSCS
DRAMESTESR HYPVFENPKQ GKLRTKVENG EGTIPVESSD IVPTWDGIRL GERLRTMSCS
DKILRWNVLG LQGALLTHFL QPIYLKSVTL GYLFSQGHLT RAICCRVTRD GSAFEDGLRH
PFIVNHPKVG RVSIYDSKRQ SGKTKETSVN WCLADGYDLE ILDGTRGTVD GPRNELSRVS
KKNIFLLFKK LCSFRYRRDL LRLSYGEAKK AARDYETAKN YFKKGLKDMG YGNWISKPQE
EKNFYLCPV*
mutated AA sequence MMSPICDQTI DSRLKVEKAT WWGRVGGGSR PHWQSPGVRP CPEEVQDPGY SLSGYYTHPF
QGYEHRQLRY QQPGPGSSPS SFLLKQIEFL KGQLPEAPVI GKQTPSLPPS LPGLRPRFPV
LLASSTRGRQ VDIRGVPRGV HLRSQGLQRG FQHPSPRGRS LPQRGVDCLS SHFQELSIYQ
DQEQRILKFL EELGEGKATT AHDLSGKLGT PKKEINRVLY SLAKKGKLQK EAGTPPLWKI
AVSTQAWNQH SGVVRPDGHS QGAPNSDPSL EPEDRNSTSV SEDLLEPFIA VSAQAWNQHS
GVVRPDSHSQ GSPNSDPGLE PEDSNSTSAL EDPLEFLDMA EIKEKICDYL FNVSDSSALN
LAKNIGLTKA RDINAVLIDM ERQGDVYRQG TTPPIWHLTD KKRERMQIKR NTNSVPETAP
AAIPETKRNA EFLTCNIPTS NASNNMVTTE KVENGQEPVI KLENRQEARP EPARLKPPVH
YNGPSKAGYV DFENGQWATD DIPDDLNSIR AAPGEFRAIM EMPSFYSHGL PRCSPYKKLT
ECQLKNPISG LLEYAQFASQ TCEFNMIEQS GPPHEPRFKF QVVINGREFP PAEAGSKKVA
KQDAAMKAMT ILLEEAKAKD SGKSEESSHY STEKESEKTA ESQTPTPSAT SFFSGKSPVT
TLLECMHKLG NSCEFRLLSK EGPAHEPKFQ YCVAVGAQTF PSVSAPSKKV AKQMAAEEAM
KALHGEATNS MASDNQPEGM ISESLDNLES MMPNKVRKIG ELVRYLNTNP VGGLLEYARS
HGFAAEFKLV DQSGPPHEPK FVYQAKVGGR WFPAVCAHSK KQGKQEAADA ALRVLIGENE
KAERMGFTEV TPVTGASLRR TMLLLSRSPE AQPKTLPLTG STFHDQIAML SHRCFNTLTN
SFQPSLLGRK ILAAIIMKKD SEDMGVVVSL GTGNRCVKGD SLSLKGETVN DCHAEIISRR
GFIRFPYSEL MKYNSQTAKD SIFEPAKGGE KLQIKKTVSF HLYISTAPCG DGALFDKSCS
DRAMESTESR HYPVFENPKQ GKLRTKVENG EGTIPVESSD IVPTWDGIRL GERLRTMSCS
DKILRWNVLG LQGALLTHFL QPIYLKSVTL GYLFSQGHLT RAICCRVTRD GSAFEDGLRH
PFIVNHPKVG RVSIYDSKRQ SGKTKETSVN WCLADGYDLE ILDGTRGTVD GPRNELSRVS
KKNIFLLFKK LCSFRYRRDL LRLSYGEAKK AARDYETAKN YFKKGLKDMG YGNWISKPQE
EKNFYLCPV*
speed 0.62 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