mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999258418841 (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

ENST00000315174

Genbank transcript ID

N/A

UniProt peptide

O15085

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2528A>G
cDNA.2917A>G
g.108082A>G

AA changes

H843R Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

843

frameshift

known variant

Reference ID: rs945508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1509	800	2309
ExAC	25732	-18697	7035

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

	PhyloP	PhastCons
(flanking)	-3.663	0
	-0.326	0.007
(flanking)	1.775	0.941

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	108091	wt: 0.59 / mu: 0.72	wt: CATGATCTTCCATACCATTGAGCAGCTCACTCTCAAGCTCA mu: CATGATCTTCCGTACCATTGAGCAGCTCACTCTCAAGCTCA	ttga\|GCAG
Acc marginally increased	108090	wt: 0.4559 / mu: 0.5233 (marginal change - not scored)	wt: GCATGATCTTCCATACCATTGAGCAGCTCACTCTCAAGCTC mu: GCATGATCTTCCGTACCATTGAGCAGCTCACTCTCAAGCTC	attg\|AGCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

843

mutated

not conserved

843

Ptroglodytes

not conserved

ENSPTRG00000024318

1467

Mmulatta

not conserved

ENSMMUG00000012436

1467

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000041977

1464

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000000678

1323

Drerio

all conserved

ENSDARG00000052482

1329

Dmelanogaster

no alignment

FBgn0023172

n/a

Celegans

no alignment

F13E6.6

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
734	923	DOMAIN	DH.	lost
836	849	HELIX		lost
851	861	HELIX		might get lost (downstream of altered splice site)
864	866	HELIX		might get lost (downstream of altered splice site)
871	874	HELIX		might get lost (downstream of altered splice site)
877	894	HELIX		might get lost (downstream of altered splice site)
901	939	HELIX		might get lost (downstream of altered splice site)
943	945	TURN		might get lost (downstream of altered splice site)
951	953	TURN		might get lost (downstream of altered splice site)
954	958	HELIX		might get lost (downstream of altered splice site)
961	963	HELIX		might get lost (downstream of altered splice site)
965	1079	DOMAIN	PH.	might get lost (downstream of altered splice site)
966	974	STRAND		might get lost (downstream of altered splice site)
977	979	STRAND		might get lost (downstream of altered splice site)
983	998	STRAND		might get lost (downstream of altered splice site)
1024	1027	STRAND		might get lost (downstream of altered splice site)
1028	1030	HELIX		might get lost (downstream of altered splice site)
1031	1035	STRAND		might get lost (downstream of altered splice site)
1040	1047	STRAND		might get lost (downstream of altered splice site)
1050	1052	STRAND		might get lost (downstream of altered splice site)
1056	1060	STRAND		might get lost (downstream of altered splice site)
1064	1080	HELIX		might get lost (downstream of altered splice site)
1094	1099	COMPBIAS	Poly-Pro.	might get lost (downstream of altered splice site)
1155	1155	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1295	1295	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1300	1300	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1457	1457	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1458	1458	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1462	1462	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1475	1475	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1480	1480	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1489	1489	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1491	1491	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2817 / 2817

position (AA) of stopcodon in wt / mu AA sequence

939 / 939

position of stopcodon in wt / mu cDNA

3206 / 3206

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

390 / 390

chromosome

strand

-1

last intron/exon boundary

3148

theoretical NMD boundary in CDS

2708

length of CDS

2817

coding sequence (CDS) position

2528

cDNA position
(for ins/del: last normal base / first normal base)

2917

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

MFRRRTCGTE ASLRWSHSSR SEIRLGRSES LKGREEMKRS RKAENVPRSR SDVDMDAAAE
ATRLHQSASS STSSLSTRSL ENPTPPFTPK MGRRSIESPS LGFCTDTLLP HLLEDDLGQL
SDLEPEPDAQ NWQHTVGKDV VAGLTQREID RQEVINELFV TEASHLRTLR VLDLIFYQRM
KKENLMPREE LARLFPNLPE LIEIHNSWCE AMKKLREEGP IIKEISDLML ARFDGPAREE
LQQVAAQFCS YQSIALELIK TKQRKESRFQ LFMQEAESHP QCRRLQLRDL IISEMQRLTK
YPLLLESIIK HTEGGTSEHE KLCRARDQCR EILKYVNEAV KQTENRHRLE GYQKRLDATA
LERASNPLAA EFKSLDLTTR KMIHEGPLTW RISKDKTLDL HVLLLEDLLV LLQKQDEKLL
LKCHSKTAVG SSDSKQTFSP VLKLNAVLIR SVATDKRAFF IICTSKLGPP QIYELVALTS
SDKNTWMELL EEAVRNATRH PGAAPMPVHP PPPGPREPAQ QGPTPSRVEL DDSDVFHGEP
EPEELPGGTG SQQRVQGKHQ VLLEDPEQEG SAEEEELGVL PCPSTSLDGE NRGIRTRNPI
HLAFPGPLFM EGLADSALED VENLRHLILW SLLPGHTMET QAAQEPEDDL TPTPSVISVT
SHPWDPGSPG QAPPGGEGDN TQLAGLEGER PEQEDMGLCS LEHLPPRTRN SGIWESPELD
RNLAEDASST EAAGGYKVVR KAEVAGSKVV PALPESGQSE PGPPEVEGGT KATGNCFYVS
MPSGPPDSST DHSEAPMSPP QPDSLPAGQT EPQPQLQGGN DDPRRPSRSP PSLALRDVGM
IFHTIEQLTL KLNRLKDMEL AHRELLKSLG GESSGGTTPV GSFHTEAARW TDGSLSPPAK
EPLASDSRNS HELGPCPEDG SDAPLEDSTA DAAASPGP*

mutated AA sequence

MFRRRTCGTE ASLRWSHSSR SEIRLGRSES LKGREEMKRS RKAENVPRSR SDVDMDAAAE
ATRLHQSASS STSSLSTRSL ENPTPPFTPK MGRRSIESPS LGFCTDTLLP HLLEDDLGQL
SDLEPEPDAQ NWQHTVGKDV VAGLTQREID RQEVINELFV TEASHLRTLR VLDLIFYQRM
KKENLMPREE LARLFPNLPE LIEIHNSWCE AMKKLREEGP IIKEISDLML ARFDGPAREE
LQQVAAQFCS YQSIALELIK TKQRKESRFQ LFMQEAESHP QCRRLQLRDL IISEMQRLTK
YPLLLESIIK HTEGGTSEHE KLCRARDQCR EILKYVNEAV KQTENRHRLE GYQKRLDATA
LERASNPLAA EFKSLDLTTR KMIHEGPLTW RISKDKTLDL HVLLLEDLLV LLQKQDEKLL
LKCHSKTAVG SSDSKQTFSP VLKLNAVLIR SVATDKRAFF IICTSKLGPP QIYELVALTS
SDKNTWMELL EEAVRNATRH PGAAPMPVHP PPPGPREPAQ QGPTPSRVEL DDSDVFHGEP
EPEELPGGTG SQQRVQGKHQ VLLEDPEQEG SAEEEELGVL PCPSTSLDGE NRGIRTRNPI
HLAFPGPLFM EGLADSALED VENLRHLILW SLLPGHTMET QAAQEPEDDL TPTPSVISVT
SHPWDPGSPG QAPPGGEGDN TQLAGLEGER PEQEDMGLCS LEHLPPRTRN SGIWESPELD
RNLAEDASST EAAGGYKVVR KAEVAGSKVV PALPESGQSE PGPPEVEGGT KATGNCFYVS
MPSGPPDSST DHSEAPMSPP QPDSLPAGQT EPQPQLQGGN DDPRRPSRSP PSLALRDVGM
IFRTIEQLTL KLNRLKDMEL AHRELLKSLG GESSGGTTPV GSFHTEAARW TDGSLSPPAK
EPLASDSRNS HELGPCPEDG SDAPLEDSTA DAAASPGP*

speed

0.99 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