Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999926724947 (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 CM074015)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:156907081T>CN/A show variant in all transcripts   IGV
HGNC symbol ARHGEF11
Ensembl transcript ID ENST00000361409
Genbank transcript ID NM_014784
UniProt peptide O15085
alteration type single base exchange
alteration region CDS
DNA changes c.4280A>G
cDNA.5023A>G
g.108082A>G
AA changes H1427R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1427
frameshift no
known variant Reference ID: rs945508
databasehomozygous (C/C)heterozygousallele carriers
1000G15098002309
ExAC25732-186977035

known disease mutation at this position, please check HGMD for details (HGMD ID CM074015)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6630
-0.3260.007
(flanking)1.7750.941
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased108091wt: 0.59 / mu: 0.72wt: CATGATCTTCCATACCATTGAGCAGCTCACTCTCAAGCTCA
mu: CATGATCTTCCGTACCATTGAGCAGCTCACTCTCAAGCTCA		 ttga|GCAG
Acc marginally increased108090wt: 0.4559 / mu: 0.5233 (marginal change - not scored)wt: GCATGATCTTCCATACCATTGAGCAGCTCACTCTCAAGCTC
mu: GCATGATCTTCCGTACCATTGAGCAGCTCACTCTCAAGCTC		 attg|AGCA
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1427SLALRDVGMIFHTIEQLTLKLNRL
mutated  not conserved    1427SLALRDVGMIFRTIEQLTLKLNR
Ptroglodytes  not conserved  ENSPTRG00000024318  1467SLALRDVGMIFRTIEQLTLKLNR
Mmulatta  not conserved  ENSMMUG00000012436  1467SLALRDVGMIFRTIEQLTLKLNR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000041977  1464SLVLRDMGVIFHTIEQLTVKLHR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000000678  1333VDEIFHTIEGLMSKLRQ
Drerio  all conserved  ENSDARG00000052482  1327SVQRHVIKNVDEIFNTMEELMKKLQH
Dmelanogaster  no alignment  FBgn0023172  n/a
Celegans  no alignment  F13E6.6  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
14571457MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14581458MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14621462MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
14751475MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
14801480MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14891489MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14911491MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4569 / 4569
position (AA) of stopcodon in wt / mu AA sequence 1523 / 1523
position of stopcodon in wt / mu cDNA 5312 / 5312
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 744 / 744
chromosome 1
strand -1
last intron/exon boundary 5254
theoretical NMD boundary in CDS 4460
length of CDS 4569
coding sequence (CDS) position 4280
cDNA position
(for ins/del: last normal base / first normal base)		 5023
gDNA position
(for ins/del: last normal base / first normal base)		 108082
chromosomal position
(for ins/del: last normal base / first normal base)		 156907081
original gDNA sequence snippet GGACGTGGGCATGATCTTCCATACCATTGAGCAGCTCACTC
altered gDNA sequence snippet GGACGTGGGCATGATCTTCCGTACCATTGAGCAGCTCACTC
original cDNA sequence snippet GGACGTGGGCATGATCTTCCATACCATTGAGCAGCTCACTC
altered cDNA sequence snippet GGACGTGGGCATGATCTTCCGTACCATTGAGCAGCTCACTC
wildtype AA sequence MSVRLPQSID RLSSLSSLGD SAPERKSPSH HRQPSDASET TGLVQRCVII QKDQHGFGFT
VSGDRIVLVQ SVRPGGAAMK AGVKEGDRII KVNGTMVTNS SHLEVVKLIK SGAYVALTLL
GSSPSSMGIS GLQQDPSPAG APRITSVIPS PPPPPPLPPP QRITGPKPLQ DPEVQKHATQ
ILRNMLRQEE KELQDILPLY GDTSQRPSEG RLSLDSQEGD SGLDSGTERF PSLSESLMNR
NSVLSDPGLD SPRTSPVIMA RVAQHHRRQG SDAAVPSTGD QGVDQSPKPL IIGPEEDYDP
GYFNNESDII FQDLEKLKSR PAHLGVFLRY IFSQADPSPL LFYLCAEVYQ QASPKDSRSL
GKDIWNIFLE KNAPLRVKIP EMLQAEIDSR LRNSEDARGV LCEAQEAAMP EIQEQIHDYR
TKRTLGLGSL YGENDLLDLD GDPLRERQVA EKQLAALGDI LSKYEEDRSA PMDFALNTYM
SHAGIRLREA RPSNTAEKAQ SAPDKDKWLP FFPKTKKSSN SKKEKDALED KKRNPILKYI
GKPKSSSQST FHIPLSPVEV KPGNVRNIIQ HFENNQQYDA PEPGTQRLST GSFPEDLLES
DSSRSEIRLG RSESLKGREE MKRSRKAENV PRSRSDVDMD AAAEATRLHQ SASSSTSSLS
TRSLENPTPP FTPKMGRRSI ESPSLGFCTD TLLPHLLEDD LGQLSDLEPE PDAQNWQHTV
GKDVVAGLTQ REIDRQEVIN ELFVTEASHL RTLRVLDLIF YQRMKKENLM PREELARLFP
NLPELIEIHN SWCEAMKKLR EEGPIIKEIS DLMLARFDGP AREELQQVAA QFCSYQSIAL
ELIKTKQRKE SRFQLFMQEA ESHPQCRRLQ LRDLIISEMQ RLTKYPLLLE SIIKHTEGGT
SEHEKLCRAR DQCREILKYV NEAVKQTENR HRLEGYQKRL DATALERASN PLAAEFKSLD
LTTRKMIHEG PLTWRISKDK TLDLHVLLLE DLLVLLQKQD EKLLLKCHSK TAVGSSDSKQ
TFSPVLKLNA VLIRSVATDK RAFFIICTSK LGPPQIYELV ALTSSDKNTW MELLEEAVRN
ATRHPGAAPM PVHPPPPGPR EPAQQGPTPS RVELDDSDVF HGEPEPEELP GGTGSQQRVQ
GKHQVLLEDP EQEGSAEEEE LGVLPCPSTS LDGENRGIRT RNPIHLAFPG PLFMEGLADS
ALEDVENLRH LILWSLLPGH TMETQAAQEP EDDLTPTPSV ISVTSHPWDP GSPGQAPPGG
EGDNTQLAGL EGERPEQEDM GLCSLEHLPP RTRNSGIWES PELDRNLAED ASSTEAAGGY
KVVRKAEVAG SKVVPALPES GQSEPGPPEV EGGTKATGNC FYVSMPSGPP DSSTDHSEAP
MSPPQPDSLP AGQTEPQPQL QGGNDDPRRP SRSPPSLALR DVGMIFHTIE QLTLKLNRLK
DMELAHRELL KSLGGESSGG TTPVGSFHTE AARWTDGSLS PPAKEPLASD SRNSHELGPC
PEDGSDAPLE DSTADAAASP GP*
mutated AA sequence MSVRLPQSID RLSSLSSLGD SAPERKSPSH HRQPSDASET TGLVQRCVII QKDQHGFGFT
VSGDRIVLVQ SVRPGGAAMK AGVKEGDRII KVNGTMVTNS SHLEVVKLIK SGAYVALTLL
GSSPSSMGIS GLQQDPSPAG APRITSVIPS PPPPPPLPPP QRITGPKPLQ DPEVQKHATQ
ILRNMLRQEE KELQDILPLY GDTSQRPSEG RLSLDSQEGD SGLDSGTERF PSLSESLMNR
NSVLSDPGLD SPRTSPVIMA RVAQHHRRQG SDAAVPSTGD QGVDQSPKPL IIGPEEDYDP
GYFNNESDII FQDLEKLKSR PAHLGVFLRY IFSQADPSPL LFYLCAEVYQ QASPKDSRSL
GKDIWNIFLE KNAPLRVKIP EMLQAEIDSR LRNSEDARGV LCEAQEAAMP EIQEQIHDYR
TKRTLGLGSL YGENDLLDLD GDPLRERQVA EKQLAALGDI LSKYEEDRSA PMDFALNTYM
SHAGIRLREA RPSNTAEKAQ SAPDKDKWLP FFPKTKKSSN SKKEKDALED KKRNPILKYI
GKPKSSSQST FHIPLSPVEV KPGNVRNIIQ HFENNQQYDA PEPGTQRLST GSFPEDLLES
DSSRSEIRLG RSESLKGREE MKRSRKAENV PRSRSDVDMD AAAEATRLHQ SASSSTSSLS
TRSLENPTPP FTPKMGRRSI ESPSLGFCTD TLLPHLLEDD LGQLSDLEPE PDAQNWQHTV
GKDVVAGLTQ REIDRQEVIN ELFVTEASHL RTLRVLDLIF YQRMKKENLM PREELARLFP
NLPELIEIHN SWCEAMKKLR EEGPIIKEIS DLMLARFDGP AREELQQVAA QFCSYQSIAL
ELIKTKQRKE SRFQLFMQEA ESHPQCRRLQ LRDLIISEMQ RLTKYPLLLE SIIKHTEGGT
SEHEKLCRAR DQCREILKYV NEAVKQTENR HRLEGYQKRL DATALERASN PLAAEFKSLD
LTTRKMIHEG PLTWRISKDK TLDLHVLLLE DLLVLLQKQD EKLLLKCHSK TAVGSSDSKQ
TFSPVLKLNA VLIRSVATDK RAFFIICTSK LGPPQIYELV ALTSSDKNTW MELLEEAVRN
ATRHPGAAPM PVHPPPPGPR EPAQQGPTPS RVELDDSDVF HGEPEPEELP GGTGSQQRVQ
GKHQVLLEDP EQEGSAEEEE LGVLPCPSTS LDGENRGIRT RNPIHLAFPG PLFMEGLADS
ALEDVENLRH LILWSLLPGH TMETQAAQEP EDDLTPTPSV ISVTSHPWDP GSPGQAPPGG
EGDNTQLAGL EGERPEQEDM GLCSLEHLPP RTRNSGIWES PELDRNLAED ASSTEAAGGY
KVVRKAEVAG SKVVPALPES GQSEPGPPEV EGGTKATGNC FYVSMPSGPP DSSTDHSEAP
MSPPQPDSLP AGQTEPQPQL QGGNDDPRRP SRSPPSLALR DVGMIFRTIE QLTLKLNRLK
DMELAHRELL KSLGGESSGG TTPVGSFHTE AARWTDGSLS PPAKEPLASD SRNSHELGPC
PEDGSDAPLE DSTADAAASP GP*
speed 1.31 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