Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999987862441 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM100499)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:57870155A>CN/A show variant in all transcripts   IGV
HGNC symbol ARHGAP9
Ensembl transcript ID ENST00000356411
Genbank transcript ID N/A
UniProt peptide Q9BRR9
alteration type single base exchange
alteration region CDS
DNA changes c.1108T>G
cDNA.1247T>G
g.12443T>G
AA changes S370A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 370
frameshift no
known variant Reference ID: rs11544238
databasehomozygous (C/C)heterozygousallele carriers
1000G4349861420
ExAC16976-118515791

known disease mutation at this position, please check HGMD for details (HGMD ID CM100499)
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
CTCF, Transcription Factor, CCCTC-binding factor (1)
DNase1, Open Chromatin, DNase1 Hypersensitive Site
EBF, Transcription Factor, EBF Transcription Factor Binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2140.118
-0.3810.001
(flanking)-0.2840
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc lost124510.20wt: ACAGCGCCCTCCTCAGGCTGGGTGAGTGTGAGCGAGAGGCG ctgg|GTGA
Donor increased12445wt: 0.53 / mu: 0.60wt: TCCTCAGGCTGGGTG
mu: TCCGCAGGCTGGGTG		 CTCA|ggct
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      370FYREPPPTAPSSGWGPAGSRPESS
mutated  all conserved    370REPPPTAPSAGWGPAGSRPES
Ptroglodytes  all identical  ENSPTRG00000005134  370RAPPPTAPSSGWGPAGSRPES
Mmulatta  all identical  ENSMMUG00000022060  449REPPPTAPSSGWGPAGSRPES
Fcatus  no alignment  ENSFCAG00000002082  n/a
Mmusculus  not conserved  ENSMUSG00000040345  107FYRERPPQSASLQG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000013390  147FFKDPKSQNPES-WKPGNSRPES
Dmelanogaster  no homologue    
Celegans  not conserved  C38D4.5  438LYKDQKSAEKH---GKHYDAPQG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
322435DOMAINPH.lost
368370HELIXlost
380384STRANDmight get lost (downstream of altered splice site)
389392STRANDmight get lost (downstream of altered splice site)
394396TURNmight get lost (downstream of altered splice site)
398406STRANDmight get lost (downstream of altered splice site)
412416STRANDmight get lost (downstream of altered splice site)
420439HELIXmight get lost (downstream of altered splice site)
475475MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
542749DOMAINRho-GAP.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2253 / 2253
position (AA) of stopcodon in wt / mu AA sequence 751 / 751
position of stopcodon in wt / mu cDNA 2392 / 2392
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 140 / 140
chromosome 12
strand -1
last intron/exon boundary 2221
theoretical NMD boundary in CDS 2031
length of CDS 2253
coding sequence (CDS) position 1108
cDNA position
(for ins/del: last normal base / first normal base)		 1247
gDNA position
(for ins/del: last normal base / first normal base)		 12443
chromosomal position
(for ins/del: last normal base / first normal base)		 57870155
original gDNA sequence snippet CACCGCCGACAGCGCCCTCCTCAGGCTGGGTGAGTGTGAGC
altered gDNA sequence snippet CACCGCCGACAGCGCCCTCCGCAGGCTGGGTGAGTGTGAGC
original cDNA sequence snippet CACCGCCGACAGCGCCCTCCTCAGGCTGGGGACCAGCGGGT
altered cDNA sequence snippet CACCGCCGACAGCGCCCTCCGCAGGCTGGGGACCAGCGGGT
wildtype AA sequence MLSSRWWPSS WGILGLGPRS PPRGSQLCAL YAFTYTGADG QQVSLAEGDR FLLLRKTNSD
WWLARRLEAP STSRPIFVPA AYMIEESIPS QSPTTVIPGQ LLWTPGPKLF HGSLEELSQA
LPSRAQASSE QPPPLPRKMC RSVSTDNLSP SLLKPFQEGP SGRSLSQEDL PSEASASTAG
PQPLMSEPPV YCNLVDLRRC PRSPPPGPAC PLLQRLDAWE QHLDPNSGRC FYINSLTGCK
SWKPPRRSRS ETNPGSMEGT QTLKRNNDVL QPQAKGFRSD TGTPEPLDPQ GSLSLSQRTS
QLDPPALQAP RPLPQLLDDP HEVEKSGLLN MTKIAQGGRK LRKNWGPSWV VLTGNSLVFY
REPPPTAPSS GWGPAGSRPE SSVDLRGAAL AHGRHLSSRR NVLHIRTIPG HEFLLQSDHE
TELRAWHRAL RTVIERLVRW VEARREAPTG RDQGSGDREN PLELRLSGSG PAELSAGEDE
EEESELVSKP LLRLSSRRSS IRGPEGTEQN RVRNKLKRLI AKRPPLQSLQ ERGLLRDQVF
GCQLESLCQR EGDTVPSFLR LCIAAVDKRG LDVDGIYRVS GNLAVVQKLR FLVDRERAVT
SDGRYVFPEQ PGQEGRLDLD STEWDDIHVV TGALKLFLRE LPQPLVPPLL LPHFRAALAL
SESEQCLSQI QELIGSMPKP NHDTLRYLLE HLCRVIAHSD KNRMTPHNLG IVFGPTLFRP
EQETSDPAAH ALYPGQLVQL MLTNFTSLFP *
mutated AA sequence MLSSRWWPSS WGILGLGPRS PPRGSQLCAL YAFTYTGADG QQVSLAEGDR FLLLRKTNSD
WWLARRLEAP STSRPIFVPA AYMIEESIPS QSPTTVIPGQ LLWTPGPKLF HGSLEELSQA
LPSRAQASSE QPPPLPRKMC RSVSTDNLSP SLLKPFQEGP SGRSLSQEDL PSEASASTAG
PQPLMSEPPV YCNLVDLRRC PRSPPPGPAC PLLQRLDAWE QHLDPNSGRC FYINSLTGCK
SWKPPRRSRS ETNPGSMEGT QTLKRNNDVL QPQAKGFRSD TGTPEPLDPQ GSLSLSQRTS
QLDPPALQAP RPLPQLLDDP HEVEKSGLLN MTKIAQGGRK LRKNWGPSWV VLTGNSLVFY
REPPPTAPSA GWGPAGSRPE SSVDLRGAAL AHGRHLSSRR NVLHIRTIPG HEFLLQSDHE
TELRAWHRAL RTVIERLVRW VEARREAPTG RDQGSGDREN PLELRLSGSG PAELSAGEDE
EEESELVSKP LLRLSSRRSS IRGPEGTEQN RVRNKLKRLI AKRPPLQSLQ ERGLLRDQVF
GCQLESLCQR EGDTVPSFLR LCIAAVDKRG LDVDGIYRVS GNLAVVQKLR FLVDRERAVT
SDGRYVFPEQ PGQEGRLDLD STEWDDIHVV TGALKLFLRE LPQPLVPPLL LPHFRAALAL
SESEQCLSQI QELIGSMPKP NHDTLRYLLE HLCRVIAHSD KNRMTPHNLG IVFGPTLFRP
EQETSDPAAH ALYPGQLVQL MLTNFTSLFP *
speed 1.01 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