MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000274364
Querying Taster for transcript #2: ENST00000396234
Querying Taster for transcript #3: ENST00000502745
Querying Taster for transcript #4: ENST00000379730
MT speed 0 s - this script 5.387646 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
IQGAP2	polymorphism_automatic	5.39254099439779e-05	simple_aae				I220V	single base exchange	rs2431363		show file
IQGAP2	polymorphism_automatic	5.39254099439779e-05	simple_aae				I220V	single base exchange	rs2431363		show file
IQGAP2	polymorphism_automatic	5.39254099439779e-05	simple_aae				I226V	single base exchange	rs2431363		show file
IQGAP2	polymorphism_automatic	0.347488358312073	simple_aae				I724V	single base exchange	rs2431363		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999946074590056 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:75948650A>GN/A show variant in all transcripts IGV

HGNC symbol

IQGAP2

Ensembl transcript ID

ENST00000396234

Genbank transcript ID

N/A

UniProt peptide

Q13576

alteration type

single base exchange

alteration region

CDS

DNA changes

c.658A>G
cDNA.727A>G
g.249577A>G

AA changes

I220V Score: 29 explain score(s)

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

220

frameshift

known variant

Reference ID: rs2431363

database	homozygous (G/G)	heterozygous	allele carriers
1000G	468	1100	1568
ExAC	15168	2431	17599

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.047	0.881
	0.214	0.894
(flanking)	2.913	0.98

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

220

mutated

all conserved

220

Ptroglodytes

all conserved

ENSPTRG00000017002

694

Mmulatta

all conserved

ENSMMUG00000022982

675

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021676

694

VVKIQAFWKGFKQRQEYLHRQQVFAGNVDSV

Ggallus

all identical

ENSGALG00000014978

789

Trubripes

all conserved

ENSTRUG00000005240

810

Drerio

all conserved

ENSDARG00000060010

817

Dmelanogaster

no homologue

Celegans

all conserved

F09C3.1

617

Xtropicalis

all identical

ENSXETG00000003339

777

protein features

no protein features affected

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

3285 / 3285

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

70 / 70

chromosome

strand

last intron/exon boundary

3172

theoretical NMD boundary in CDS

3052

length of CDS

3216

coding sequence (CDS) position

658

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

727

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

249577

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

75948650

original gDNA sequence snippet

TCATTGATAATACTGATTCTATTGTGAAGGTAAATACCCTT

altered gDNA sequence snippet

TCATTGATAATACTGATTCTGTTGTGAAGGTAAATACCCTT

original cDNA sequence snippet

TCATTGATAATACTGATTCTATTGTGAAGATTCAGTCCTGG

altered cDNA sequence snippet

TCATTGATAATACTGATTCTGTTGTGAAGATTCAGTCCTGG

wildtype AA sequence

MHSLPGVVAV 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

MHSLPGVVAV GYINEAIDEG NPLRTLETLL LPTANISDVD PAHAQHYQDV LYHAKSQKLG
DSESVSKVLW LDEIQQAVDD ANVDKDRAKQ WVTLVVDVNQ CLEGKKSSDI LSVLKSSTSN
ANDIIPECAD KYYDALVKAK ELKSERVSSD GSWLKLNLHK KYDYYYNTDS KESSWVTPES
CLYKESWLTG KEIEAFWKGY KQRKEYMHRR QTFIDNTDSV 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

0.98 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
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999946074590056 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:75948650A>GN/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.658A>G
cDNA.748A>G
g.249577A>G

AA changes

I220V Score: 29 explain score(s)

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

220

frameshift

known variant

Reference ID: rs2431363

database	homozygous (G/G)	heterozygous	allele carriers
1000G	468	1100	1568
ExAC	15168	2431	17599

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.047	0.881
	0.214	0.894
(flanking)	2.913	0.98

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

220

mutated

all conserved

220

Ptroglodytes

all conserved

ENSPTRG00000017002

694

Mmulatta

all conserved

ENSMMUG00000022982

675

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021676

694

VVKIQAFWKGFKQRQEYLHRQQVFAGNVDSV

Ggallus

all identical

ENSGALG00000014978

789

Trubripes

all conserved

ENSTRUG00000005240

810

Drerio

all conserved

ENSDARG00000060010

817

Dmelanogaster

no homologue

Celegans

all conserved

F09C3.1

617

Xtropicalis

all identical

ENSXETG00000003339

777

protein features

no protein features affected

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

658

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

748

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

249577

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

75948650

original gDNA sequence snippet

TCATTGATAATACTGATTCTATTGTGAAGGTAAATACCCTT

altered gDNA sequence snippet

TCATTGATAATACTGATTCTGTTGTGAAGGTAAATACCCTT

original cDNA sequence snippet

TCATTGATAATACTGATTCTATTGTGAAGATTCAGTCCTGG

altered cDNA sequence snippet

TCATTGATAATACTGATTCTGTTGTGAAGATTCAGTCCTGG

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
CLYKESWLTG KEIEAFWKGY KQRKEYMHRR QTFIDNTDSV 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

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999946074590056 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:75948650A>GN/A show variant in all transcripts IGV

HGNC symbol

IQGAP2

Ensembl transcript ID

ENST00000379730

Genbank transcript ID

N/A

UniProt peptide

Q13576

alteration type

single base exchange

alteration region

CDS

DNA changes

c.676A>G
cDNA.2221A>G
g.249577A>G

AA changes

I226V Score: 29 explain score(s)

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

226

frameshift

known variant

Reference ID: rs2431363

database	homozygous (G/G)	heterozygous	allele carriers
1000G	468	1100	1568
ExAC	15168	2431	17599

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.047	0.881
	0.214	0.894
(flanking)	2.913	0.98

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

226

mutated

all conserved

226

Ptroglodytes

all conserved

ENSPTRG00000017002

694

Mmulatta

all conserved

ENSMMUG00000022982

675

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021676

694

VVKIQAFWKGFKQRQEYLHRQQVFAGNVDSV

Ggallus

all identical

ENSGALG00000014978

777

Trubripes

all conserved

ENSTRUG00000005240

799

Drerio

all conserved

ENSDARG00000060010

806

Dmelanogaster

no homologue

Celegans

all conserved

F09C3.1

617

Xtropicalis

all identical

ENSXETG00000003339

766

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3234 / 3234

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

1078 / 1078

position of stopcodon in wt / mu cDNA

4779 / 4779

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

1546 / 1546

chromosome

strand

last intron/exon boundary

4666

theoretical NMD boundary in CDS

3070

length of CDS

3234

coding sequence (CDS) position

676

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

2221

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

249577

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

75948650

original gDNA sequence snippet

TCATTGATAATACTGATTCTATTGTGAAGGTAAATACCCTT

altered gDNA sequence snippet

TCATTGATAATACTGATTCTGTTGTGAAGGTAAATACCCTT

original cDNA sequence snippet

TCATTGATAATACTGATTCTATTGTGAAGATTCAGTCCTGG

altered cDNA sequence snippet

TCATTGATAATACTGATTCTGTTGTGAAGATTCAGTCCTGG

wildtype AA sequence

MVNAQIQEEN DRVVAVGYIN EAIDEGNPLR TLETLLLPTA NISDVDPAHA QHYQDVLYHA
KSQKLGDSES VSKVLWLDEI QQAVDDANVD KDRAKQWVTL VVDVNQCLEG KKSSDILSVL
KSSTSNANDI IPECADKYYD ALVKAKELKS ERVSSDGSWL KLNLHKKYDY YYNTDSKESS
WVTPESCLYK ESWLTGKEIE AFWKGYKQRK EYMHRRQTFI DNTDSIVKIQ SWFRMATARK
SYLSRLQYFR DHNNEIVKIQ SLLRANKARD DYKTLVGSEN PPLTVIRKFV YLLDQSDLDF
QEELEVARLR EEVVTKIRAN QQLEKDLNLM DIKIGLLVKN RITLEDVISH SKKLNKKKGG
EMEILNNTDN QGIKSLSKER RKTLETYQQL FYLLQTNPLY LAKLIFQMPQ NKSTKFMDTV
IFTLYNYASN QREEYLLLKL FKTALEEEIK SKVDQVQDIV TGNPTVIKMV VSFNRGARGQ
NTLRQLLAPV VKEIIDDKSL IINTNPVEVY KAWVNQLETQ TGEASKLPYD VTTEQALTYP
EVKNKLEASI ENLRRVTDKV LNSIISSLDL LPYGLRYIAK VLKNSIHEKF PDATEDELLK
IVGNLLYYRY MNPAIVAPDG FDIIDMTAGG QINSDQRRNL GSVAKVLQHA ASNKLFEGEN
EHLSSMNNYL SETYQEFRKY FKEACNVPEP EEKFNMDKYT DLVTVSKPVI YISIEEIIST
HSLLLEHQDA IAPEKNDLLS ELLGSLGEVP TVESFLGEGA VDPNDPNKAN TLSQLSKTEI
SLVLTSKYDI EDGEAIDSRS LMIKTKKLII DVIRNQPGNT LTEILETPAT AQQEVDHATD
MVSRAMIDSR TPEEMKHSQS MIEDAQLPLE QKKRKIQRNL RTLEQTGHVS SENKYQDILN
EIAKDIRNQR IYRKLRKAEL AKLQQTLNAL NKKAAFYEEQ INYYDTYIKT CLDNLKRKNT
RRSIKLDGKG EPKGAKRAKP VKYTAAKLHE KGVLLDIDDL QTNQFKNVTF DIIATEDVGI
FDVRSKFLGV EMEKVQLNIQ DLLQMQYEGV AVMKMFDKVK VNVNLLIYLL NKKFYGK*

mutated AA sequence

MVNAQIQEEN DRVVAVGYIN EAIDEGNPLR TLETLLLPTA NISDVDPAHA QHYQDVLYHA
KSQKLGDSES VSKVLWLDEI QQAVDDANVD KDRAKQWVTL VVDVNQCLEG KKSSDILSVL
KSSTSNANDI IPECADKYYD ALVKAKELKS ERVSSDGSWL KLNLHKKYDY YYNTDSKESS
WVTPESCLYK ESWLTGKEIE AFWKGYKQRK EYMHRRQTFI DNTDSVVKIQ SWFRMATARK
SYLSRLQYFR DHNNEIVKIQ SLLRANKARD DYKTLVGSEN PPLTVIRKFV YLLDQSDLDF
QEELEVARLR EEVVTKIRAN QQLEKDLNLM DIKIGLLVKN RITLEDVISH SKKLNKKKGG
EMEILNNTDN QGIKSLSKER RKTLETYQQL FYLLQTNPLY LAKLIFQMPQ NKSTKFMDTV
IFTLYNYASN QREEYLLLKL FKTALEEEIK SKVDQVQDIV TGNPTVIKMV VSFNRGARGQ
NTLRQLLAPV VKEIIDDKSL IINTNPVEVY KAWVNQLETQ TGEASKLPYD VTTEQALTYP
EVKNKLEASI ENLRRVTDKV LNSIISSLDL LPYGLRYIAK VLKNSIHEKF PDATEDELLK
IVGNLLYYRY MNPAIVAPDG FDIIDMTAGG QINSDQRRNL GSVAKVLQHA ASNKLFEGEN
EHLSSMNNYL SETYQEFRKY FKEACNVPEP EEKFNMDKYT DLVTVSKPVI YISIEEIIST
HSLLLEHQDA IAPEKNDLLS ELLGSLGEVP TVESFLGEGA VDPNDPNKAN TLSQLSKTEI
SLVLTSKYDI EDGEAIDSRS LMIKTKKLII DVIRNQPGNT LTEILETPAT AQQEVDHATD
MVSRAMIDSR TPEEMKHSQS MIEDAQLPLE QKKRKIQRNL RTLEQTGHVS SENKYQDILN
EIAKDIRNQR IYRKLRKAEL AKLQQTLNAL NKKAAFYEEQ INYYDTYIKT CLDNLKRKNT
RRSIKLDGKG EPKGAKRAKP VKYTAAKLHE KGVLLDIDDL QTNQFKNVTF DIIATEDVGI
FDVRSKFLGV EMEKVQLNIQ DLLQMQYEGV AVMKMFDKVK VNVNLLIYLL NKKFYGK*

speed

1.21 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.652511641687927 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:75948650A>GN/A show variant in all transcripts IGV

HGNC symbol

IQGAP2

Ensembl transcript ID

ENST00000274364

Genbank transcript ID

NM_006633

UniProt peptide

Q13576

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2170A>G
cDNA.2467A>G
g.249577A>G

AA changes

I724V Score: 29 explain score(s)

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

724

frameshift

known variant

Reference ID: rs2431363

database	homozygous (G/G)	heterozygous	allele carriers
1000G	468	1100	1568
ExAC	15168	2431	17599

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.047	0.881
	0.214	0.894
(flanking)	2.913	0.98

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

724

mutated

all conserved

724

Ptroglodytes

all identical

ENSPTRG00000017002

724

Mmulatta

all identical

ENSMMUG00000022982

705

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000021676

724

Ggallus

all identical

ENSGALG00000014978

724

Trubripes

all conserved

ENSTRUG00000005240

735

Drerio

all conserved

ENSDARG00000060010

819

Dmelanogaster

no homologue

Celegans

all conserved

F09C3.1

672

Xtropicalis

all identical

ENSXETG00000003339

727

protein features

start (aa)	end (aa)	feature	details
720	749	DOMAIN	IQ 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4728 / 4728

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

1576 / 1576

position of stopcodon in wt / mu cDNA

5025 / 5025

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

298 / 298

chromosome

strand

last intron/exon boundary

4912

theoretical NMD boundary in CDS

4564

length of CDS

4728

coding sequence (CDS) position

2170

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

2467

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

249577

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

75948650

original gDNA sequence snippet

TCATTGATAATACTGATTCTATTGTGAAGGTAAATACCCTT

altered gDNA sequence snippet

TCATTGATAATACTGATTCTGTTGTGAAGGTAAATACCCTT

original cDNA sequence snippet

TCATTGATAATACTGATTCTATTGTGAAGATTCAGTCCTGG

altered cDNA sequence snippet

TCATTGATAATACTGATTCTGTTGTGAAGATTCAGTCCTGG

wildtype AA sequence

MPHEELPSLQ RPRYGSIVDD ERLSAEEMDE RRRQNIAYEY LCHLEEAKRW MEVCLVEELP
PTTELEEGLR NGVYLAKLAK FFAPKMVSEK KIYDVEQTRY KKSGLHFRHT DNTVQWLRAM
ESIGLPKIFY PETTDVYDRK NIPRMIYCIH ALSLYLFKLG IAPQIQDLLG KVDFTEEEIS
NMRKELEKYG IQMPSFSKIG GILANELSVD EAALHAAVIA INEAVEKGIA EQTVVTLRNP
NAVLTLVDDN LAPEYQKELW DAKKKKEENA RLKNSCISEE ERDAYEELLT QAEIQGNINK
VNRQAAVDHI NAVIPEGDPE NTLLALKKPE AQLPAVYPFA AAMYQNELFN LQKQNTMNYL
AHEELLIAVE MLSAVALLNQ ALESNDLVSV QNQLRSPAIG LNNLDKAYVE RYANTLLSVK
LEVLSQGQDN LSWNEIQNCI DMVNAQIQEE NDRVVAVGYI NEAIDEGNPL RTLETLLLPT
ANISDVDPAH AQHYQDVLYH AKSQKLGDSE SVSKVLWLDE IQQAVDDANV DKDRAKQWVT
LVVDVNQCLE GKKSSDILSV LKSSTSNAND IIPECADKYY DALVKAKELK SERVSSDGSW
LKLNLHKKYD YYYNTDSKES SWVTPESCLY KESWLTGKEI EDIIEEVTVG YIRENIWSAS
EELLLRFQAT SSGPILREEF EARKSFLHEQ EENVVKIQAF WKGYKQRKEY MHRRQTFIDN
TDSIVKIQSW FRMATARKSY LSRLQYFRDH NNEIVKIQSL LRANKARDDY KTLVGSENPP
LTVIRKFVYL LDQSDLDFQE ELEVARLREE VVTKIRANQQ LEKDLNLMDI KIGLLVKNRI
TLEDVISHSK KLNKKKGGEM EILNNTDNQG IKSLSKERRK TLETYQQLFY LLQTNPLYLA
KLIFQMPQNK STKFMDTVIF TLYNYASNQR EEYLLLKLFK TALEEEIKSK VDQVQDIVTG
NPTVIKMVVS FNRGARGQNT LRQLLAPVVK EIIDDKSLII NTNPVEVYKA WVNQLETQTG
EASKLPYDVT TEQALTYPEV KNKLEASIEN LRRVTDKVLN SIISSLDLLP YGLRYIAKVL
KNSIHEKFPD ATEDELLKIV GNLLYYRYMN PAIVAPDGFD IIDMTAGGQI NSDQRRNLGS
VAKVLQHAAS NKLFEGENEH LSSMNNYLSE TYQEFRKYFK EACNVPEPEE KFNMDKYTDL
VTVSKPVIYI SIEEIISTHS LLLEHQDAIA PEKNDLLSEL LGSLGEVPTV ESFLGEGAVD
PNDPNKANTL SQLSKTEISL VLTSKYDIED GEAIDSRSLM IKTKKLIIDV IRNQPGNTLT
EILETPATAQ QEVDHATDMV SRAMIDSRTP EEMKHSQSMI EDAQLPLEQK KRKIQRNLRT
LEQTGHVSSE NKYQDILNEI AKDIRNQRIY RKLRKAELAK LQQTLNALNK KAAFYEEQIN
YYDTYIKTCL DNLKRKNTRR SIKLDGKGEP KGAKRAKPVK YTAAKLHEKG VLLDIDDLQT
NQFKNVTFDI IATEDVGIFD VRSKFLGVEM EKVQLNIQDL LQMQYEGVAV MKMFDKVKVN
VNLLIYLLNK KFYGK*

mutated AA sequence

MPHEELPSLQ RPRYGSIVDD ERLSAEEMDE RRRQNIAYEY LCHLEEAKRW MEVCLVEELP
PTTELEEGLR NGVYLAKLAK FFAPKMVSEK KIYDVEQTRY KKSGLHFRHT DNTVQWLRAM
ESIGLPKIFY PETTDVYDRK NIPRMIYCIH ALSLYLFKLG IAPQIQDLLG KVDFTEEEIS
NMRKELEKYG IQMPSFSKIG GILANELSVD EAALHAAVIA INEAVEKGIA EQTVVTLRNP
NAVLTLVDDN LAPEYQKELW DAKKKKEENA RLKNSCISEE ERDAYEELLT QAEIQGNINK
VNRQAAVDHI NAVIPEGDPE NTLLALKKPE AQLPAVYPFA AAMYQNELFN LQKQNTMNYL
AHEELLIAVE MLSAVALLNQ ALESNDLVSV QNQLRSPAIG LNNLDKAYVE RYANTLLSVK
LEVLSQGQDN LSWNEIQNCI DMVNAQIQEE NDRVVAVGYI NEAIDEGNPL RTLETLLLPT
ANISDVDPAH AQHYQDVLYH AKSQKLGDSE SVSKVLWLDE IQQAVDDANV DKDRAKQWVT
LVVDVNQCLE GKKSSDILSV LKSSTSNAND IIPECADKYY DALVKAKELK SERVSSDGSW
LKLNLHKKYD YYYNTDSKES SWVTPESCLY KESWLTGKEI EDIIEEVTVG YIRENIWSAS
EELLLRFQAT SSGPILREEF EARKSFLHEQ EENVVKIQAF WKGYKQRKEY MHRRQTFIDN
TDSVVKIQSW FRMATARKSY LSRLQYFRDH NNEIVKIQSL LRANKARDDY KTLVGSENPP
LTVIRKFVYL LDQSDLDFQE ELEVARLREE VVTKIRANQQ LEKDLNLMDI KIGLLVKNRI
TLEDVISHSK KLNKKKGGEM EILNNTDNQG IKSLSKERRK TLETYQQLFY LLQTNPLYLA
KLIFQMPQNK STKFMDTVIF TLYNYASNQR EEYLLLKLFK TALEEEIKSK VDQVQDIVTG
NPTVIKMVVS FNRGARGQNT LRQLLAPVVK EIIDDKSLII NTNPVEVYKA WVNQLETQTG
EASKLPYDVT TEQALTYPEV KNKLEASIEN LRRVTDKVLN SIISSLDLLP YGLRYIAKVL
KNSIHEKFPD ATEDELLKIV GNLLYYRYMN PAIVAPDGFD IIDMTAGGQI NSDQRRNLGS
VAKVLQHAAS NKLFEGENEH LSSMNNYLSE TYQEFRKYFK EACNVPEPEE KFNMDKYTDL
VTVSKPVIYI SIEEIISTHS LLLEHQDAIA PEKNDLLSEL LGSLGEVPTV ESFLGEGAVD
PNDPNKANTL SQLSKTEISL VLTSKYDIED GEAIDSRSLM IKTKKLIIDV IRNQPGNTLT
EILETPATAQ QEVDHATDMV SRAMIDSRTP EEMKHSQSMI EDAQLPLEQK KRKIQRNLRT
LEQTGHVSSE NKYQDILNEI AKDIRNQRIY RKLRKAELAK LQQTLNALNK KAAFYEEQIN
YYDTYIKTCL DNLKRKNTRR SIKLDGKGEP KGAKRAKPVK YTAAKLHEKG VLLDIDDLQT
NQFKNVTFDI IATEDVGIFD VRSKFLGVEM EKVQLNIQDL LQMQYEGVAV MKMFDKVKVN
VNLLIYLLNK KFYGK*

speed

1.22 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems