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 ENST00000313093
Genbank transcript ID NM_001258328
UniProt peptide Q92619
alteration type single base exchange
alteration region CDS
DNA changes c.777A>T
cDNA.1008A>T
g.8079A>T
AA changes E259D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 259
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      259GPGSEGTPPSLEDCDAGCLPAEEV
mutated  all conserved    259GPGSEGTPPSLDDCDAGCLPAEE
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  284GHGSSHT---WGDSSELAMSAEE
Dmelanogaster  no homologue    
Celegans  not conserved  ZK669.1  185STHQTNPDPN----DQSTEKVME
Xtropicalis  all identical  ENSXETG00000003287  274GGLSGGEGALSNAPEYLEAGSALAED
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 3411 / 3411
position (AA) of stopcodon in wt / mu AA sequence 1137 / 1137
position of stopcodon in wt / mu cDNA 3642 / 3642
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 232 / 232
chromosome 19
strand 1
last intron/exon boundary 3296
theoretical NMD boundary in CDS 3014
length of CDS 3411
coding sequence (CDS) position 777
cDNA position
(for ins/del: last normal base / first normal base)		 1008
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 ELPRKDGADA VFPGPSLEPP AGSSGVKATG
TLKRPTSLSR HASAAGFPLS GAASWTLGRS HRSPLTAASP GELPTEGAGP DVVEDISHLL
ADVARFAEGL EKLKECVLRD DLLEARRPRA HECLGEALRV MHQIISKYPL LNTVETLTAA
GTLIAKVKAF HYESNNDLEK QEFEKALETI AVAFSSTVSE FLMGEVDSST LLAVPPGDSS
QSMESLYGPG SEGTPPSLED CDAGCLPAEE VDVLLQRCEG GVDAALLYAK NMAKYMKDLI
SYLEKRTTLE MEFAKGLQKI AHNCRQSVMQ EPHMPLLSIY SLALEQDLEF GHSMVQAVGT
LQTQTFMQPL TLRRLEHEKR RKEIKEAWHR AQRKLQEAES NLRKAKQGYV QRCEDHDKAR
FLVAKAEEEQ AGSAPGAGST ATKTLDKRRR LEEEAKNKAE EAMATYRTCV ADAKTQKQEL
EDTKVTALRQ IQEVIRQSDQ TIKSATISYY QMMHMQTAPL PVHFQMLCES SKLYDPGQQY
ASHVRQLQRD QEPDVHYDFE PHVSANAWSP VMRARKSSFN VSDVARPEAA GSPPEEGGCT
EGTPAKDHRA GRGHQVHKSW PLSISDSDSG LDPGPGAGDF KKFERTSSSG TMSSTEELVD
PDGGAGASAF EQADLNGMTP ELPVAVPSGP FRHEGLSKAA RTHRLRKLRT PAKCRECNSY
VYFQGAECEE CCLACHKKCL ETLAIQCGHK KLQGRLQLFG QDFSHAARSA PDGVPFIVKK
CVCEIERRAL RTKGIYRVNG VKTRVEKLCQ AFENGKELVE LSQASPHDIS NVLKLYLRQL
PEPLISFRLY HELVGLAKDS LKAEAEAKAA SRGRQDGSES EAVAVALAGR LRELLRDLPP
ENRASLQYLL RHLRRIVEVE QDNKMTPGNL GIVFGPTLLR PRPTEATVSL SSLVDYPHQA
RVIETLIVHY GLVFEEEPEE TPGGQDESSN QRAEVVVQVP YLEAGEAVVY PLQEAAADGC
RESRVVSNDS DSDLEEASEL LSSSEASALG HLSFLEQQQS EASLEVASGS HSGSEEQLEA
TAREDGDGDE DGPAQQLSGF NTNQSNNVLQ APLPPMRLRG GRMTLGSCRE RQPEFV*
mutated AA sequence MFSRKKRELM KTPSISKKNR AGSPSPQPSG ELPRKDGADA VFPGPSLEPP AGSSGVKATG
TLKRPTSLSR HASAAGFPLS GAASWTLGRS HRSPLTAASP GELPTEGAGP DVVEDISHLL
ADVARFAEGL EKLKECVLRD DLLEARRPRA HECLGEALRV MHQIISKYPL LNTVETLTAA
GTLIAKVKAF HYESNNDLEK QEFEKALETI AVAFSSTVSE FLMGEVDSST LLAVPPGDSS
QSMESLYGPG SEGTPPSLDD CDAGCLPAEE VDVLLQRCEG GVDAALLYAK NMAKYMKDLI
SYLEKRTTLE MEFAKGLQKI AHNCRQSVMQ EPHMPLLSIY SLALEQDLEF GHSMVQAVGT
LQTQTFMQPL TLRRLEHEKR RKEIKEAWHR AQRKLQEAES NLRKAKQGYV QRCEDHDKAR
FLVAKAEEEQ AGSAPGAGST ATKTLDKRRR LEEEAKNKAE EAMATYRTCV ADAKTQKQEL
EDTKVTALRQ IQEVIRQSDQ TIKSATISYY QMMHMQTAPL PVHFQMLCES SKLYDPGQQY
ASHVRQLQRD QEPDVHYDFE PHVSANAWSP VMRARKSSFN VSDVARPEAA GSPPEEGGCT
EGTPAKDHRA GRGHQVHKSW PLSISDSDSG LDPGPGAGDF KKFERTSSSG TMSSTEELVD
PDGGAGASAF EQADLNGMTP ELPVAVPSGP FRHEGLSKAA RTHRLRKLRT PAKCRECNSY
VYFQGAECEE CCLACHKKCL ETLAIQCGHK KLQGRLQLFG QDFSHAARSA PDGVPFIVKK
CVCEIERRAL RTKGIYRVNG VKTRVEKLCQ AFENGKELVE LSQASPHDIS NVLKLYLRQL
PEPLISFRLY HELVGLAKDS LKAEAEAKAA SRGRQDGSES EAVAVALAGR LRELLRDLPP
ENRASLQYLL RHLRRIVEVE QDNKMTPGNL GIVFGPTLLR PRPTEATVSL SSLVDYPHQA
RVIETLIVHY GLVFEEEPEE TPGGQDESSN QRAEVVVQVP YLEAGEAVVY PLQEAAADGC
RESRVVSNDS DSDLEEASEL LSSSEASALG HLSFLEQQQS EASLEVASGS HSGSEEQLEA
TAREDGDGDE DGPAQQLSGF NTNQSNNVLQ APLPPMRLRG GRMTLGSCRE RQPEFV*
speed 0.82 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