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 ENST00000586866
Genbank transcript ID N/A
UniProt peptide Q92619
alteration type single base exchange
alteration region CDS
DNA changes c.789A>T
cDNA.864A>T
g.8079A>T
AA changes E263D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 263
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      263GPGSEGTPPSLEDCDAGCLPAEEV
mutated  all conserved    263GPGSEGTPPSLDDCDAGCLPAEE
Ptroglodytes  all conserved  ENSPTRG00000010180  259EGTPPSLDDCDAGCLPAEE
Mmulatta  all conserved  ENSMMUG00000015301  259EGTPPGLDDCDAGCLPAEE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035697  269GAGTEGPPHNVEECEEGCLPPEE
Ggallus  not conserved  ENSGALG00000002559  189GI----TPLPLHSHITVRPA
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000062049  284GHGSSHT---WGDSSELAMSAEE
Dmelanogaster  no homologue    
Celegans  not conserved  ZK669.1  185STHQTNPDPN----DQSTEKVME
Xtropicalis  all identical  ENSXETG00000003287  274GGLSGGEGALSNAPEYLEAGSA
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 3423 / 3423
position (AA) of stopcodon in wt / mu AA sequence 1141 / 1141
position of stopcodon in wt / mu cDNA 3498 / 3498
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 76 / 76
chromosome 19
strand 1
last intron/exon boundary 3152
theoretical NMD boundary in CDS 3026
length of CDS 3423
coding sequence (CDS) position 789
cDNA position
(for ins/del: last normal base / first normal base)		 864
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 MLGRRLGARA SYSPYRAGRQ GPQQRGRDPG IQLTELPRKD GADAVFPGPS LEPPAGSSGV
KATGTLKRPT SLSRHASAAG FPLSGAASWT LGRSHRSPLT AASPGELPTE GAGPDVVEDI
SHLLADVARF AEGLEKLKEC VLRDDLLEAR RPRAHECLGE ALRVMHQIIS KYPLLNTVET
LTAAGTLIAK VKAFHYESNN DLEKQEFEKA LETIAVAFSS TVSEFLMGEV DSSTLLAVPP
GDSSQSMESL YGPGSEGTPP SLEDCDAGCL PAEEVDVLLQ RCEGGVDAAL LYAKNMAKYM
KDLISYLEKR TTLEMEFAKG LQKIAHNCRQ SVMQEPHMPL LSIYSLALEQ DLEFGHSMVQ
AVGTLQTQTF MQPLTLRRLE HEKRRKEIKE AWHRAQRKLQ EAESNLRKAK QGYVQRCEDH
DKARFLVAKA EEEQAGSAPG AGSTATKTLD KRRRLEEEAK NKAEEAMATY RTCVADAKTQ
KQELEDTKVT ALRQIQEVIR QSDQTIKSAT ISYYQMMHMQ TAPLPVHFQM LCESSKLYDP
GQQYASHVRQ LQRDQEPDVH YDFEPHVSAN AWSPVMRARK SSFNVSDVAR PEAAGSPPEE
GGCTEGTPAK DHRAGRGHQV HKSWPLSISD SDSGLDPGPG AGDFKKFERT SSSGTMSSTE
ELVDPDGGAG ASAFEQADLN GMTPELPVAV PSGPFRHEGL SKAARTHRLR KLRTPAKCRE
CNSYVYFQGA ECEECCLACH KKCLETLAIQ CGHKKLQGRL QLFGQDFSHA ARSAPDGVPF
IVKKCVCEIE RRALRTKGIY RVNGVKTRVE KLCQAFENGK ELVELSQASP HDISNVLKLY
LRQLPEPLIS FRLYHELVGL AKDSLKAEAE AKAASRGRQD GSESEAVAVA LAGRLRELLR
DLPPENRASL QYLLRHLRRI VEVEQDNKMT PGNLGIVFGP TLLRPRPTEA TVSLSSLVDY
PHQARVIETL IVHYGLVFEE EPEETPGGQD ESSNQRAEVV VQVPYLEAGE AVVYPLQEAA
ADGCRESRVV SNDSDSDLEE ASELLSSSEA SALGHLSFLE QQQSEASLEV ASGSHSGSEE
QLEATAREDG DGDEDGPAQQ LSGFNTNQSN NVLQAPLPPM RLRGGRMTLG SCRERQPEFV
*
mutated AA sequence MLGRRLGARA SYSPYRAGRQ GPQQRGRDPG IQLTELPRKD GADAVFPGPS LEPPAGSSGV
KATGTLKRPT SLSRHASAAG FPLSGAASWT LGRSHRSPLT AASPGELPTE GAGPDVVEDI
SHLLADVARF AEGLEKLKEC VLRDDLLEAR RPRAHECLGE ALRVMHQIIS KYPLLNTVET
LTAAGTLIAK VKAFHYESNN DLEKQEFEKA LETIAVAFSS TVSEFLMGEV DSSTLLAVPP
GDSSQSMESL YGPGSEGTPP SLDDCDAGCL PAEEVDVLLQ RCEGGVDAAL LYAKNMAKYM
KDLISYLEKR TTLEMEFAKG LQKIAHNCRQ SVMQEPHMPL LSIYSLALEQ DLEFGHSMVQ
AVGTLQTQTF MQPLTLRRLE HEKRRKEIKE AWHRAQRKLQ EAESNLRKAK QGYVQRCEDH
DKARFLVAKA EEEQAGSAPG AGSTATKTLD KRRRLEEEAK NKAEEAMATY RTCVADAKTQ
KQELEDTKVT ALRQIQEVIR QSDQTIKSAT ISYYQMMHMQ TAPLPVHFQM LCESSKLYDP
GQQYASHVRQ LQRDQEPDVH YDFEPHVSAN AWSPVMRARK SSFNVSDVAR PEAAGSPPEE
GGCTEGTPAK DHRAGRGHQV HKSWPLSISD SDSGLDPGPG AGDFKKFERT SSSGTMSSTE
ELVDPDGGAG ASAFEQADLN GMTPELPVAV PSGPFRHEGL SKAARTHRLR KLRTPAKCRE
CNSYVYFQGA ECEECCLACH KKCLETLAIQ CGHKKLQGRL QLFGQDFSHA ARSAPDGVPF
IVKKCVCEIE RRALRTKGIY RVNGVKTRVE KLCQAFENGK ELVELSQASP HDISNVLKLY
LRQLPEPLIS FRLYHELVGL AKDSLKAEAE AKAASRGRQD GSESEAVAVA LAGRLRELLR
DLPPENRASL QYLLRHLRRI VEVEQDNKMT PGNLGIVFGP TLLRPRPTEA TVSLSSLVDY
PHQARVIETL IVHYGLVFEE EPEETPGGQD ESSNQRAEVV VQVPYLEAGE AVVYPLQEAA
ADGCRESRVV SNDSDSDLEE ASELLSSSEA SALGHLSFLE QQQSEASLEV ASGSHSGSEE
QLEATAREDG DGDEDGPAQQ LSGFNTNQSN NVLQAPLPPM RLRGGRMTLG SCRERQPEFV
*
speed 0.59 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