Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999966299285 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032176)
  • known disease mutation: rs14820 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:154557469A>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.3494T>C
cDNA.3694T>C
g.43007T>C
AA changes F1165S Score: 155 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1165
frameshift no
known variant Reference ID: rs28936681
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs14820 (pathogenic for Symmetrical dyschromatosis of extremities) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032176)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032176)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032176)
regulatory features H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0161
3.1791
(flanking)4.8331
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased43007wt: 0.2471 / mu: 0.2687 (marginal change - not scored)wt: AAAGAACATTTTTCTTCTATTTAAGAAGCTCTGCTCCTTCC
mu: AAAGAACATTTTTCTTCTATCTAAGAAGCTCTGCTCCTTCC		 tatt|TAAG
Acc increased43004wt: 0.69 / mu: 0.76wt: CAAAAAGAACATTTTTCTTCTATTTAAGAAGCTCTGCTCCT
mu: CAAAAAGAACATTTTTCTTCTATCTAAGAAGCTCTGCTCCT		 ttct|ATTT
Donor increased43008wt: 0.81 / mu: 0.98wt: CTATTTAAGAAGCTC
mu: CTATCTAAGAAGCTC		 ATTT|aaga
distance from splice site 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1165SRVSKKNIFLLFKKLCSFRYRRDL
mutated  not conserved    1165SRVSKKNIFLLSKKLCSFRYRRD
Ptroglodytes  all identical  ENSPTRG00000022833  1208SRVSKKNIFLLFKKLCSFRYRRD
Mmulatta  all identical  ENSMMUG00000016093  1163SRVSKKNIFLLFKKLCSFRYRRD
Fcatus  all identical  ENSFCAG00000001341  1155SRVSKKNIFLLFKKLCSFRYRRD
Mmusculus  all identical  ENSMUSG00000027951  1114SRVSKKNIFLQFKKLCSFRARRD
Ggallus  all identical  ENSGALG00000021475  792SRVSKRKTFALFQQLCAKSDCKE
Trubripes  all identical  ENSTRUG00000008870  1211SRVTKSNLFALFRAVCQRCGRTD
Drerio  all identical  ENSDARG00000012389  1281RVSKSNLFRLFHALCQRAGRAD
Dmelanogaster  no homologue    
Celegans  not conserved  T20H4.4  436LCKKNMAELMITICTLTKTSV
Xtropicalis  all identical  ENSXETG00000003848  1038SKLHMFTLFQQLSVLRGRHD
protein features
start (aa)end (aa)featuredetails 
8861221DOMAINA to I editase.lost
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 3494
cDNA position
(for ins/del: last normal base / first normal base)		 3694
gDNA position
(for ins/del: last normal base / first normal base)		 43007
chromosomal position
(for ins/del: last normal base / first normal base)		 154557469
original gDNA sequence snippet AAAGAACATTTTTCTTCTATTTAAGAAGCTCTGCTCCTTCC
altered gDNA sequence snippet AAAGAACATTTTTCTTCTATCTAAGAAGCTCTGCTCCTTCC
original cDNA sequence snippet AAAGAACATTTTTCTTCTATTTAAGAAGCTCTGCTCCTTCC
altered cDNA sequence snippet AAAGAACATTTTTCTTCTATCTAAGAAGCTCTGCTCCTTCC
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 RFLYSELMKY NSQTAKDSIF EPAKGGEKLQ IKKTVSFHLY
ISTAPCGDGA LFDKSCSDRA MESTESRHYP VFENPKQGKL RTKVENGEGT IPVESSDIVP
TWDGIRLGER LRTMSCSDKI LRWNVLGLQG ALLTHFLQPI YLKSVTLGYL FSQGHLTRAI
CCRVTRDGSA FEDGLRHPFI VNHPKVGRVS IYDSKRQSGK TKETSVNWCL ADGYDLEILD
GTRGTVDGPR NELSRVSKKN IFLLSKKLCS FRYRRDLLRL SYGEAKKAAR DYETAKNYFK
KGLKDMGYGN WISKPQEEKN FYLCPV*
speed 0.20 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