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 ENST00000368471
Genbank transcript ID NM_001025107
UniProt peptide P55265
alteration type single base exchange
alteration region CDS
DNA changes c.1883T>C
cDNA.2863T>C
g.39332T>C
AA changes L628P Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 628
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      628EIISRRGFIRFLYSELMKYNSQTA
mutated  not conserved    628EIISRRGFIRFPYSELMKYNSQT
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  972EIISRRGFVRFLYSEILKYQDGN
Drerio  all identical  ENSDARG00000012389  1041FLYSELMKHWESP
Dmelanogaster  no homologue    
Celegans  all identical  T20H4.4  206EILARRGLLRFLYSE
Xtropicalis  all conserved  ENSXETG00000003848  797EIVSRRGFISNTIXSQLMKYNPDM
protein features
start (aa)end (aa)featuredetails 
614682DOMAINDRBM 2.lost
726794DOMAINDRBM 3.might get lost (downstream of altered splice site)
808808MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
818818MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
823823MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
825825MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
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 1883
cDNA position
(for ins/del: last normal base / first normal base)		 2863
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 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 RRGFIRFPYS 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*
speed 1.12 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