mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999981259869 (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)

chr5:75932965G>CN/A show variant in all transcripts IGV

HGNC symbol

IQGAP2

Ensembl transcript ID

ENST00000502745

Genbank transcript ID

N/A

UniProt peptide

Q13576

alteration type

single base exchange

alteration region

CDS

DNA changes

c.546G>C
cDNA.636G>C
g.233892G>C

AA changes

L182F Score: 22 explain score(s)

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

182

frameshift

known variant

Reference ID: rs2455230

database	homozygous (C/C)	heterozygous	allele carriers
1000G	790	1191	1981
ExAC	19421	-6075	13346

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.148	0
	0.023	0
(flanking)	-1.699	0

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
Donor increased	233893	wt: 0.73 / mu: 0.90	wt: GCTTGTATAAAGAAT mu: GCTTCTATAAAGAAT	TTGT\|ataa
Acc gained	233897	0.65	mu: ACCTGAATCATGCTTCTATAAAGAATCATGGCTCACAGGAA	ataa\|AGAA
Donor gained	233896	0.30	mu: TCTATAAAGAATCAT	TATA\|aaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

182

mutated

not conserved

182

Ptroglodytes

all identical

ENSPTRG00000017002

629

Mmulatta

all identical

ENSMMUG00000022982

610

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000021676

629

Ggallus

all conserved

ENSGALG00000014978

696

Trubripes

not conserved

ENSTRUG00000005240

717

RGD

Drerio

all conserved

ENSDARG00000060010

724

Dmelanogaster

no homologue

Celegans

all identical

F09C3.1

581

Xtropicalis

all identical

ENSXETG00000003339

690

EIQLVVGKITADYNREQL

ENLIILLQAQIRGYLLRKAFNERKAYLHKQEPS

protein features

start (aa)	end (aa)	feature	details
263	266	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
594	627	DOMAIN	WW.	might get lost (downstream of altered splice site)
690	719	DOMAIN	IQ 1.	might get lost (downstream of altered splice site)
720	749	DOMAIN	IQ 2.	might get lost (downstream of altered splice site)
750	779	DOMAIN	IQ 3.	might get lost (downstream of altered splice site)
778	778	CONFLICT	N -> S (in Ref. 3; BAF83755).	might get lost (downstream of altered splice site)
917	1150	DOMAIN	Ras-GAP.	might get lost (downstream of altered splice site)
1101	1101	CONFLICT	G -> R (in Ref. 3; BAF83755).	might get lost (downstream of altered splice site)
1333	1333	CONFLICT	V -> L (in Ref. 3; BAH13890).	might get lost (downstream of altered splice site)
1389	1389	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1471	1471	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
1474	1474	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
1479	1482	STRAND		might get lost (downstream of altered splice site)
1483	1488	HELIX		might get lost (downstream of altered splice site)
1491	1495	STRAND		might get lost (downstream of altered splice site)
1500	1505	HELIX		might get lost (downstream of altered splice site)
1506	1512	STRAND		might get lost (downstream of altered splice site)
1518	1525	STRAND		might get lost (downstream of altered splice site)
1528	1536	STRAND		might get lost (downstream of altered splice site)
1537	1545	HELIX		might get lost (downstream of altered splice site)
1550	1554	STRAND		might get lost (downstream of altered splice site)
1557	1560	STRAND		might get lost (downstream of altered splice site)
1561	1569	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3216 / 3216

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

1072 / 1072

position of stopcodon in wt / mu cDNA

3306 / 3306

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

91 / 91

chromosome

strand

last intron/exon boundary

3193

theoretical NMD boundary in CDS

3052

length of CDS

3216

coding sequence (CDS) position

546

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

636

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

233892

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

75932965

original gDNA sequence snippet

GTCACACCTGAATCATGCTTGTATAAAGAATCATGGCTCAC

altered gDNA sequence snippet

GTCACACCTGAATCATGCTTCTATAAAGAATCATGGCTCAC

original cDNA sequence snippet

GTCACACCTGAATCATGCTTGTATAAAGAATCATGGCTCAC

altered cDNA sequence snippet

GTCACACCTGAATCATGCTTCTATAAAGAATCATGGCTCAC

wildtype AA sequence

MGCFKGVVAV GYINEAIDEG NPLRTLETLL LPTANISDVD PAHAQHYQDV LYHAKSQKLG
DSESVSKVLW LDEIQQAVDD ANVDKDRAKQ WVTLVVDVNQ CLEGKKSSDI LSVLKSSTSN
ANDIIPECAD KYYDALVKAK ELKSERVSSD GSWLKLNLHK KYDYYYNTDS KESSWVTPES
CLYKESWLTG KEIEAFWKGY KQRKEYMHRR QTFIDNTDSI VKIQSWFRMA TARKSYLSRL
QYFRDHNNEI VKIQSLLRAN KARDDYKTLV GSENPPLTVI RKFVYLLDQS DLDFQEELEV
ARLREEVVTK IRANQQLEKD LNLMDIKIGL LVKNRITLED VISHSKKLNK KKGGEMEILN
NTDNQGIKSL SKERRKTLET YQQLFYLLQT NPLYLAKLIF QMPQNKSTKF MDTVIFTLYN
YASNQREEYL LLKLFKTALE EEIKSKVDQV QDIVTGNPTV IKMVVSFNRG ARGQNTLRQL
LAPVVKEIID DKSLIINTNP VEVYKAWVNQ LETQTGEASK LPYDVTTEQA LTYPEVKNKL
EASIENLRRV TDKVLNSIIS SLDLLPYGLR YIAKVLKNSI HEKFPDATED ELLKIVGNLL
YYRYMNPAIV APDGFDIIDM TAGGQINSDQ RRNLGSVAKV LQHAASNKLF EGENEHLSSM
NNYLSETYQE FRKYFKEACN VPEPEEKFNM DKYTDLVTVS KPVIYISIEE IISTHSLLLE
HQDAIAPEKN DLLSELLGSL GEVPTVESFL GEGAVDPNDP NKANTLSQLS KTEISLVLTS
KYDIEDGEAI DSRSLMIKTK KLIIDVIRNQ PGNTLTEILE TPATAQQEVD HATDMVSRAM
IDSRTPEEMK HSQSMIEDAQ LPLEQKKRKI QRNLRTLEQT GHVSSENKYQ DILNEIAKDI
RNQRIYRKLR KAELAKLQQT LNALNKKAAF YEEQINYYDT YIKTCLDNLK RKNTRRSIKL
DGKGEPKGAK RAKPVKYTAA KLHEKGVLLD IDDLQTNQFK NVTFDIIATE DVGIFDVRSK
FLGVEMEKVQ LNIQDLLQMQ YEGVAVMKMF DKVKVNVNLL IYLLNKKFYG K*

mutated AA sequence

MGCFKGVVAV GYINEAIDEG NPLRTLETLL LPTANISDVD PAHAQHYQDV LYHAKSQKLG
DSESVSKVLW LDEIQQAVDD ANVDKDRAKQ WVTLVVDVNQ CLEGKKSSDI LSVLKSSTSN
ANDIIPECAD KYYDALVKAK ELKSERVSSD GSWLKLNLHK KYDYYYNTDS KESSWVTPES
CFYKESWLTG KEIEAFWKGY KQRKEYMHRR QTFIDNTDSI VKIQSWFRMA TARKSYLSRL
QYFRDHNNEI VKIQSLLRAN KARDDYKTLV GSENPPLTVI RKFVYLLDQS DLDFQEELEV
ARLREEVVTK IRANQQLEKD LNLMDIKIGL LVKNRITLED VISHSKKLNK KKGGEMEILN
NTDNQGIKSL SKERRKTLET YQQLFYLLQT NPLYLAKLIF QMPQNKSTKF MDTVIFTLYN
YASNQREEYL LLKLFKTALE EEIKSKVDQV QDIVTGNPTV IKMVVSFNRG ARGQNTLRQL
LAPVVKEIID DKSLIINTNP VEVYKAWVNQ LETQTGEASK LPYDVTTEQA LTYPEVKNKL
EASIENLRRV TDKVLNSIIS SLDLLPYGLR YIAKVLKNSI HEKFPDATED ELLKIVGNLL
YYRYMNPAIV APDGFDIIDM TAGGQINSDQ RRNLGSVAKV LQHAASNKLF EGENEHLSSM
NNYLSETYQE FRKYFKEACN VPEPEEKFNM DKYTDLVTVS KPVIYISIEE IISTHSLLLE
HQDAIAPEKN DLLSELLGSL GEVPTVESFL GEGAVDPNDP NKANTLSQLS KTEISLVLTS
KYDIEDGEAI DSRSLMIKTK KLIIDVIRNQ PGNTLTEILE TPATAQQEVD HATDMVSRAM
IDSRTPEEMK HSQSMIEDAQ LPLEQKKRKI QRNLRTLEQT GHVSSENKYQ DILNEIAKDI
RNQRIYRKLR KAELAKLQQT LNALNKKAAF YEEQINYYDT YIKTCLDNLK RKNTRRSIKL
DGKGEPKGAK RAKPVKYTAA KLHEKGVLLD IDDLQTNQFK NVTFDIIATE DVGIFDVRSK
FLGVEMEKVQ LNIQDLLQMQ YEGVAVMKMF DKVKVNVNLL IYLLNKKFYG K*

speed

0.97 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