Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999991695 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:1074000A>TN/A show variant in all transcripts   IGV
HGNC symbol ARHGAP45
Ensembl transcript ID ENST00000590214
Genbank transcript ID NM_001258328
UniProt peptide Q92619
alteration type single base exchange
alteration region CDS
DNA changes c.858A>T
cDNA.937A>T
g.8079A>T
AA changes E286D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 286
frameshift no
known variant Reference ID: rs2074442
databasehomozygous (T/T)heterozygousallele carriers
1000G15418072348
ExAC26577-203876190
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.0430.086
-0.7180.027
(flanking)1.1080.042
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased8071wt: 0.53 / mu: 0.66wt: CTCCCAGCCTGGAAG
mu: CTCCCAGCCTGGATG		 CCCA|gcct
distance from splice site 14
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      286GPGSEGTPPSLEDCDAGCLPAEEV
mutated  all conserved    286GPGSEGTPPSLDDCDAGCLPAEE
Ptroglodytes  all conserved  ENSPTRG00000010180  259GPGSEGTPPSLDDCDAGCLPAEE
Mmulatta  all conserved  ENSMMUG00000015301  259GPGSEGTPPGLDDCDAGCLPAEE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035697  269GAGTEGPPHNVEECEEGCLPP
Ggallus  not conserved  ENSGALG00000002559  189GI----TPLPLHSHITVRPA
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000062049  284HT---WGDSSELAMSAEE
Dmelanogaster  no homologue    
Celegans  not conserved  ZK669.1  185STHQTNPDPN----DQSTEKVME
Xtropicalis  all identical  ENSXETG00000003287  274GGLSGGEGALSNAPEYLEAGSALAE
protein features
start (aa)end (aa)featuredetails 
305305MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
376412COILEDPotential.might get lost (downstream of altered splice site)
440499COILEDPotential.might get lost (downstream of altered splice site)
569569MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
578578MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
619619MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
702747ZN_FINGPhorbol-ester/DAG-type.might get lost (downstream of altered splice site)
761974DOMAINRho-GAP.might get lost (downstream of altered splice site)
10271027MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10301030MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10321032MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3492 / 3492
position (AA) of stopcodon in wt / mu AA sequence 1164 / 1164
position of stopcodon in wt / mu cDNA 3571 / 3571
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 80 / 80
chromosome 19
strand 1
last intron/exon boundary 3225
theoretical NMD boundary in CDS 3095
length of CDS 3492
coding sequence (CDS) position 858
cDNA position
(for ins/del: last normal base / first normal base)		 937
gDNA position
(for ins/del: last normal base / first normal base)		 8079
chromosomal position
(for ins/del: last normal base / first normal base)		 1074000
original gDNA sequence snippet GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGTAAGCC
altered gDNA sequence snippet GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGTAAGCC
original cDNA sequence snippet GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGCTGCCT
altered cDNA sequence snippet GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGCTGCCT
wildtype AA sequence MFSRKKRELM KTPSISKKNR AGSPSPQPSG PHFISGETEA VSRPENPFNE LPSDLPKELP
RKDGADAVFP GPSLEPPAGS SGVKATGTLK RPTSLSRHAS AAGFPLSGAA SWTLGRSHRS
PLTAASPGEL PTEGAGPDVV EDISHLLADV ARFAEGLEKL KECVLRDDLL EARRPRAHEC
LGEALRVMHQ IISKYPLLNT VETLTAAGTL IAKVKAFHYE SNNDLEKQEF EKALETIAVA
FSSTVSEFLM GEVDSSTLLA VPPGDSSQSM ESLYGPGSEG TPPSLEDCDA GCLPAEEVDV
LLQRCEGGVD AALLYAKNMA KYMKDLISYL EKRTTLEMEF AKGLQKIAHN CRQSVMQEPH
MPLLSIYSLA LEQDLEFGHS MVQAVGTLQT QTFMQPLTLR RLEHEKRRKE IKEAWHRAQR
KLQEAESNLR KAKQGYVQRC EDHDKARFLV AKAEEEQAGS APGAGSTATK TLDKRRRLEE
EAKNKAEEAM ATYRTCVADA KTQKQELEDT KVTALRQIQE VIRQSDQTIK SATISYYQMM
HMQTAPLPVH FQMLCESSKL YDPGQQYASH VRQLQRDQEP DVHYDFEPHV SANAWSPVMR
ARKSSFNVSD VARPEAAGSP PEEGGCTEGT PAKDHRAGRG HQVHKSWPLS ISDSDSGLDP
GPGAGDFKKF ERTSSSGTMS STEELVDPDG GAGASAFEQA DLNGMTPELP VAVPSGPFRH
EGLSKAARTH RLRKLRTPAK CRECNSYVYF QGAECEECCL ACHKKCLETL AIQCGHKKLQ
GRLQLFGQDF SHAARSAPDG VPFIVKKCVC EIERRALRTK GIYRVNGVKT RVEKLCQAFE
NGKELVELSQ ASPHDISNVL KLYLRQLPEP LISFRLYHEL VGLAKDSLKA EAEAKAASRG
RQDGSESEAV AVALAGRLRE LLRDLPPENR ASLQYLLRHL RRIVEVEQDN KMTPGNLGIV
FGPTLLRPRP TEATVSLSSL VDYPHQARVI ETLIVHYGLV FEEEPEETPG GQDESSNQRA
EVVVQVPYLE AGEAVVYPLQ EAAADGCRES RVVSNDSDSD LEEASELLSS SEASALGHLS
FLEQQQSEAS LEVASGSHSG SEEQLEATAR EDGDGDEDGP AQQLSGFNTN QSNNVLQAPL
PPMRLRGGRM TLGSCRERQP EFV*
mutated AA sequence MFSRKKRELM KTPSISKKNR AGSPSPQPSG PHFISGETEA VSRPENPFNE LPSDLPKELP
RKDGADAVFP GPSLEPPAGS SGVKATGTLK RPTSLSRHAS AAGFPLSGAA SWTLGRSHRS
PLTAASPGEL PTEGAGPDVV EDISHLLADV ARFAEGLEKL KECVLRDDLL EARRPRAHEC
LGEALRVMHQ IISKYPLLNT VETLTAAGTL IAKVKAFHYE SNNDLEKQEF EKALETIAVA
FSSTVSEFLM GEVDSSTLLA VPPGDSSQSM ESLYGPGSEG TPPSLDDCDA GCLPAEEVDV
LLQRCEGGVD AALLYAKNMA KYMKDLISYL EKRTTLEMEF AKGLQKIAHN CRQSVMQEPH
MPLLSIYSLA LEQDLEFGHS MVQAVGTLQT QTFMQPLTLR RLEHEKRRKE IKEAWHRAQR
KLQEAESNLR KAKQGYVQRC EDHDKARFLV AKAEEEQAGS APGAGSTATK TLDKRRRLEE
EAKNKAEEAM ATYRTCVADA KTQKQELEDT KVTALRQIQE VIRQSDQTIK SATISYYQMM
HMQTAPLPVH FQMLCESSKL YDPGQQYASH VRQLQRDQEP DVHYDFEPHV SANAWSPVMR
ARKSSFNVSD VARPEAAGSP PEEGGCTEGT PAKDHRAGRG HQVHKSWPLS ISDSDSGLDP
GPGAGDFKKF ERTSSSGTMS STEELVDPDG GAGASAFEQA DLNGMTPELP VAVPSGPFRH
EGLSKAARTH RLRKLRTPAK CRECNSYVYF QGAECEECCL ACHKKCLETL AIQCGHKKLQ
GRLQLFGQDF SHAARSAPDG VPFIVKKCVC EIERRALRTK GIYRVNGVKT RVEKLCQAFE
NGKELVELSQ ASPHDISNVL KLYLRQLPEP LISFRLYHEL VGLAKDSLKA EAEAKAASRG
RQDGSESEAV AVALAGRLRE LLRDLPPENR ASLQYLLRHL RRIVEVEQDN KMTPGNLGIV
FGPTLLRPRP TEATVSLSSL VDYPHQARVI ETLIVHYGLV FEEEPEETPG GQDESSNQRA
EVVVQVPYLE AGEAVVYPLQ EAAADGCRES RVVSNDSDSD LEEASELLSS SEASALGHLS
FLEQQQSEAS LEVASGSHSG SEEQLEATAR EDGDGDEDGP AQQLSGFNTN QSNNVLQAPL
PPMRLRGGRM TLGSCRERQP EFV*
speed 0.42 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