mutation t@sting

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

ENST00000292205

Genbank transcript ID

N/A

UniProt peptide

P55265

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3623T>C
cDNA.3623T>C
g.43007T>C

AA changes

F1208S Score: 155 explain score(s)

position(s) of altered AA
if AA alteration in CDS

1208

frameshift

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

	PhyloP	PhastCons
(flanking)	1.016	1
	3.179	1
(flanking)	4.833	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	43007	wt: 0.2471 / mu: 0.2687 (marginal change - not scored)	wt: AAAGAACATTTTTCTTCTATTTAAGAAGCTCTGCTCCTTCC mu: AAAGAACATTTTTCTTCTATCTAAGAAGCTCTGCTCCTTCC	tatt\|TAAG
Acc increased	43004	wt: 0.69 / mu: 0.76	wt: CAAAAAGAACATTTTTCTTCTATTTAAGAAGCTCTGCTCCT mu: CAAAAAGAACATTTTTCTTCTATCTAAGAAGCTCTGCTCCT	ttct\|ATTT
Donor increased	43008	wt: 0.81 / mu: 0.98	wt: CTATTTAAGAAGCTC mu: CTATCTAAGAAGCTC	ATTT\|aaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1208

mutated

not conserved

1208

Ptroglodytes

all identical

ENSPTRG00000022833

1208

Mmulatta

all identical

ENSMMUG00000016093

1163

Fcatus

all identical

ENSFCAG00000001341

1155

Mmusculus

all identical

ENSMUSG00000027951

1114

Ggallus

all identical

ENSGALG00000021475

792

Trubripes

all identical

ENSTRUG00000008870

1211

Drerio

all identical

ENSDARG00000012389

1281

Dmelanogaster

no homologue

Celegans

not conserved

T20H4.4

436

Xtropicalis

all identical

ENSXETG00000003848

1038

protein features

start (aa)	end (aa)	feature	details
886	1221	DOMAIN	A to I editase.	lost

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

strand

-1

last intron/exon boundary

3573

theoretical NMD boundary in CDS

3522

length of CDS

3810

coding sequence (CDS) position

3623

cDNA position
(for ins/del: last normal base / first normal base)

3623

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

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
GFIRFLYSEL MKYNSQTAKD SIFEPAKGGE KLQIKKTVSF HLYISTAPCG DGALFDKSCS
DRAMESTESR HYPVFENPKQ GKLRTKVENG EGTIPVESSD IVPTWDGIRL GERLRTMSCS
DKILRWNVLG LQGALLTHFL QPIYLKSVTL GYLFSQGHLT RAICCRVTRD GSAFEDGLRH
PFIVNHPKVG RVSIYDSKRQ SGKTKETSVN WCLADGYDLE ILDGTRGTVD GPRNELSRVS
KKNIFLLSKK LCSFRYRRDL LRLSYGEAKK AARDYETAKN YFKKGLKDMG YGNWISKPQE
EKNFYLCPV*

speed

0.94 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