Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999944036649 (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 ENST00000368471
Genbank transcript ID NM_001025107
UniProt peptide P55265
alteration type single base exchange
alteration region CDS
DNA changes c.2609T>C
cDNA.3589T>C
g.43007T>C
AA changes F870S Score: 155 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 870
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      870SRVSKKNIFLLFKKLCSFRYRRDL
mutated  not conserved    870SRVSKKNIFLLSKKLCSFRYRRD
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  1211SRVTKSNLFALFRAVCQRCGR
Drerio  all identical  ENSDARG00000012389  1281FRLFHALCQRAGRAD
Dmelanogaster  no homologue    
Celegans  not conserved  T20H4.4  436LCKKNMAELMITICTLTKTSV
Xtropicalis  all identical  ENSXETG00000003848  1039SRVSKLHMFTLFQQLSVLRGRH
protein features
start (aa)end (aa)featuredetails 
873873CONFLICTI -> V (in Ref. 5; CAE45853).might get lost (downstream of altered splice site)
8861221DOMAINA to I editase.might get lost (downstream of altered splice site)
910910METALZinc (By similarity).might get lost (downstream of altered splice site)
912912ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
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 2796 / 2796
position (AA) of stopcodon in wt / mu AA sequence 932 / 932
position of stopcodon in wt / mu cDNA 3776 / 3776
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 981 / 981
chromosome 1
strand -1
last intron/exon boundary 3539
theoretical NMD boundary in CDS 2508
length of CDS 2796
coding sequence (CDS) position 2609
cDNA position
(for ins/del: last normal base / first normal base)		 3589
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 MAEIKEKICD YLFNVSDSSA LNLAKNIGLT KARDINAVLI DMERQGDVYR QGTTPPIWHL
TDKKRERMQI KRNTNSVPET APAAIPETKR NAEFLTCNIP TSNASNNMVT TEKVENGQEP
VIKLENRQEA RPEPARLKPP VHYNGPSKAG YVDFENGQWA TDDIPDDLNS IRAAPGEFRA
IMEMPSFYSH GLPRCSPYKK LTECQLKNPI SGLLEYAQFA SQTCEFNMIE QSGPPHEPRF
KFQVVINGRE FPPAEAGSKK VAKQDAAMKA MTILLEEAKA KDSGKSEESS HYSTEKESEK
TAESQTPTPS ATSFFSGKSP VTTLLECMHK LGNSCEFRLL SKEGPAHEPK FQYCVAVGAQ
TFPSVSAPSK KVAKQMAAEE AMKALHGEAT NSMASDNQPE GMISESLDNL ESMMPNKVRK
IGELVRYLNT NPVGGLLEYA RSHGFAAEFK LVDQSGPPHE PKFVYQAKVG GRWFPAVCAH
SKKQGKQEAA DAALRVLIGE NEKAERMGFT EVTPVTGASL RRTMLLLSRS PEAQPKTLPL
TGSTFHDQIA MLSHRCFNTL TNSFQPSLLG RKILAAIIMK KDSEDMGVVV SLGTGNRCVK
GDSLSLKGET VNDCHAEIIS RRGFIRFLYS ELMKYNSQTA KDSIFEPAKG GEKLQIKKTV
SFHLYISTAP CGDGALFDKS CSDRAMESTE SRHYPVFENP KQGKLRTKVE NGEGTIPVES
SDIVPTWDGI RLGERLRTMS CSDKILRWNV LGLQGALLTH FLQPIYLKSV TLGYLFSQGH
LTRAICCRVT RDGSAFEDGL RHPFIVNHPK VGRVSIYDSK RQSGKTKETS VNWCLADGYD
LEILDGTRGT VDGPRNELSR VSKKNIFLLF KKLCSFRYRR DLLRLSYGEA KKAARDYETA
KNYFKKGLKD MGYGNWISKP QEEKNFYLCP V*
mutated AA sequence MAEIKEKICD YLFNVSDSSA LNLAKNIGLT KARDINAVLI DMERQGDVYR QGTTPPIWHL
TDKKRERMQI KRNTNSVPET APAAIPETKR NAEFLTCNIP TSNASNNMVT TEKVENGQEP
VIKLENRQEA RPEPARLKPP VHYNGPSKAG YVDFENGQWA TDDIPDDLNS IRAAPGEFRA
IMEMPSFYSH GLPRCSPYKK LTECQLKNPI SGLLEYAQFA SQTCEFNMIE QSGPPHEPRF
KFQVVINGRE FPPAEAGSKK VAKQDAAMKA MTILLEEAKA KDSGKSEESS HYSTEKESEK
TAESQTPTPS ATSFFSGKSP VTTLLECMHK LGNSCEFRLL SKEGPAHEPK FQYCVAVGAQ
TFPSVSAPSK KVAKQMAAEE AMKALHGEAT NSMASDNQPE GMISESLDNL ESMMPNKVRK
IGELVRYLNT NPVGGLLEYA RSHGFAAEFK LVDQSGPPHE PKFVYQAKVG GRWFPAVCAH
SKKQGKQEAA DAALRVLIGE NEKAERMGFT EVTPVTGASL RRTMLLLSRS PEAQPKTLPL
TGSTFHDQIA MLSHRCFNTL TNSFQPSLLG RKILAAIIMK KDSEDMGVVV SLGTGNRCVK
GDSLSLKGET VNDCHAEIIS RRGFIRFLYS ELMKYNSQTA KDSIFEPAKG GEKLQIKKTV
SFHLYISTAP CGDGALFDKS CSDRAMESTE SRHYPVFENP KQGKLRTKVE NGEGTIPVES
SDIVPTWDGI RLGERLRTMS CSDKILRWNV LGLQGALLTH FLQPIYLKSV TLGYLFSQGH
LTRAICCRVT RDGSAFEDGL RHPFIVNHPK VGRVSIYDSK RQSGKTKETS VNWCLADGYD
LEILDGTRGT VDGPRNELSR VSKKNIFLLS KKLCSFRYRR DLLRLSYGEA KKAARDYETA
KNYFKKGLKD MGYGNWISKP QEEKNFYLCP V*
speed 0.46 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