Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999956039 (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 ENST00000536472
Genbank transcript ID N/A
UniProt peptide Q92619
alteration type single base exchange
alteration region CDS
DNA changes c.297A>T
cDNA.535A>T
g.8079A>T
AA changes E99D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 99
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      99GPGSEGTPPSLEDCDAGCLPAEEV
mutated  all conserved    99GPGSEGTPPSLDDCDAGCLPAEE
Ptroglodytes  all conserved  ENSPTRG00000010180  259GPGSEGTPPSLDDCDAGCLPAEE
Mmulatta  all conserved  ENSMMUG00000015301  259GPGSEGTPPGLDDCDAGCLPAEE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035697  269GAGTEGPPHNVEECEEGCLPPEE
Ggallus  no alignment  ENSGALG00000002559  n/a
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 
9999MOD_RESPhosphoserine.lost
137145PEPTIDEMinor histocompatibility antigen HA-1. /FTId=PRO_0000330313.might get lost (downstream of altered splice site)
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 3015 / 3015
position (AA) of stopcodon in wt / mu AA sequence 1005 / 1005
position of stopcodon in wt / mu cDNA 3253 / 3253
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 239 / 239
chromosome 19
strand 1
last intron/exon boundary 2907
theoretical NMD boundary in CDS 2618
length of CDS 3015
coding sequence (CDS) position 297
cDNA position
(for ins/del: last normal base / first normal base)		 535
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 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 EGTPAKDHRG ECPAGPRGGR WLPATHPGPS PETPLSPAGR
GHQVHKSWPL SISDSDSGLD PGPGAGDFKK FERTSSSGTM SSTEELVDPD GGAGASAFEQ
ADLNGMTPEL PVAVPSGPFR HEGLSKAART HRLRKLRTPA KCRECNSYVY FQGAECEECC
LACHKKCLET LAIQCGHKKL QGRLQLFGQD FSHAARSAPD GVPFIVKKCV CEIERRALRT
KGIYRVNGVK TRVEKLCQAF ENGKELVELS QASPHDISNV LKLYLRQLPE PLISFRLYHE
LVGLAKDSLK AEAEAKAASR GRQDGSESEA VAVALAGRLR ELLRDLPPEN RASLQYLLRH
LRRIVEVEQD NKMTPGNLGI VFGPTLLRPR PTEATVSLSS LVDYPHQARV IETLIVHYGL
VFEEEPEETP GGQDESSNQR AEVVVQVPYL EAGEAVVYPL QEAAADGCRE SRVVSNDSDS
DLEEASELLS SSEASALGHL SFLEQQQSEA SLEVASGSHS GSEEQLEATA REDGDGDEDG
PAQQLSGFNT NQSNNVLQAP LPPMRLRGGR MTLGSCRERQ PEFV*
mutated AA sequence 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 EGTPAKDHRG ECPAGPRGGR WLPATHPGPS PETPLSPAGR
GHQVHKSWPL SISDSDSGLD PGPGAGDFKK FERTSSSGTM SSTEELVDPD GGAGASAFEQ
ADLNGMTPEL PVAVPSGPFR HEGLSKAART HRLRKLRTPA KCRECNSYVY FQGAECEECC
LACHKKCLET LAIQCGHKKL QGRLQLFGQD FSHAARSAPD GVPFIVKKCV CEIERRALRT
KGIYRVNGVK TRVEKLCQAF ENGKELVELS QASPHDISNV LKLYLRQLPE PLISFRLYHE
LVGLAKDSLK AEAEAKAASR GRQDGSESEA VAVALAGRLR ELLRDLPPEN RASLQYLLRH
LRRIVEVEQD NKMTPGNLGI VFGPTLLRPR PTEATVSLSS LVDYPHQARV IETLIVHYGL
VFEEEPEETP GGQDESSNQR AEVVVQVPYL EAGEAVVYPL QEAAADGCRE SRVVSNDSDS
DLEEASELLS SSEASALGHL SFLEQQQSEA SLEVASGSHS GSEEQLEATA REDGDGDEDG
PAQQLSGFNT NQSNNVLQAP LPPMRLRGGR MTLGSCRERQ PEFV*
speed 1.13 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