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: ENST00000360461
Querying Taster for transcript #2: ENST00000427155
Querying Taster for transcript #3: ENST00000379344
Querying Taster for transcript #4: ENST00000450733
MT speed 0 s - this script 3.696094 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PLEKHG4	polymorphism_automatic	1.35030596304375e-06	simple_aae				T331I	single base exchange	rs11860295		show file
PLEKHG4	polymorphism_automatic	5.01505813680359e-05	simple_aae				T412I	single base exchange	rs11860295		show file
PLEKHG4	polymorphism_automatic	5.01505813680359e-05	simple_aae				T412I	single base exchange	rs11860295		show file
PLEKHG4	polymorphism_automatic	5.01505813680359e-05	simple_aae				T412I	single base exchange	rs11860295		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998649694037 (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)

chr16:67316234C>TN/A show variant in all transcripts IGV

HGNC symbol

PLEKHG4

Ensembl transcript ID

ENST00000450733

Genbank transcript ID

NM_001129731

UniProt peptide

Q58EX7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.992C>T
cDNA.1448C>T
g.4822C>T

AA changes

T331I Score: 89 explain score(s)

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

331

frameshift

known variant

Reference ID: rs11860295

database	homozygous (T/T)	heterozygous	allele carriers
1000G	351	520	871
ExAC	2240	10976	13216

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.174	0.132
	0.722	0.293
(flanking)	0.134	0.386

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 marginally increased	4827	wt: 0.9384 / mu: 0.9484 (marginal change - not scored)	wt: CCCTGAGCCCAGACT mu: TCCTGAGCCCAGACT	CTGA\|gccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

331

mutated

not conserved

331

Ptroglodytes

not conserved

ENSPTRG00000008225

326

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000009274

416

Mmusculus

all identical

ENSMUSG00000014782

404

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075964

1517

Dmelanogaster

no alignment

FBgn0034194

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008088

936

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3333 / 3333

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

1111 / 1111

position of stopcodon in wt / mu cDNA

3789 / 3789

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

457 / 457

chromosome

strand

last intron/exon boundary

3784

theoretical NMD boundary in CDS

3277

length of CDS

3333

coding sequence (CDS) position

992

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

1448

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

4822

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

67316234

original gDNA sequence snippet

GCAAGAGGTCCCAGAGGTGACCCTGAGCCCAGACTACAGGT

altered gDNA sequence snippet

GCAAGAGGTCCCAGAGGTGATCCTGAGCCCAGACTACAGGT

original cDNA sequence snippet

GCAAGAGGTCCCAGAGGTGACCCTGAGCCCAGACTACAGGA

altered cDNA sequence snippet

GCAAGAGGTCCCAGAGGTGATCCTGAGCCCAGACTACAGGA

wildtype AA sequence

MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR PPAGATQDEE
LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS GVESLLCPMS SHLSLAQGTR
DVQGRAVLLL CAHSPAWLQS ECSSQELIRL LLYLRSIPRP EVQALGLTVL VDARICAPSS
SLFSGLSQLQ EAAPGAVYQV LLVGSTLLKE VPSGLQLEQL PSQSLLTHIP TAGLPTSLGG
GLPYCHQAWL DFRRRLEALL QNCQAACALL QGAIESVKAV PQPMEPGEVG QLLQQTEVLM
QQVLDSPWLA WLQCQGGREL TWLKQEVPEV TLSPDYRTAM DKADELYDRV DGLLHQLTLQ
SNQRIQALEL VQTLEARESG LHQIEVWLQQ VGWPALEEAG EPSLDMLLQA QGSFQELYQV
AQEQVRQGEK FLQPLTGWEA AELDPPGARF LALRAQLTEF SRALAQRCQR LADAERLFQL
FREALTWAEE GQRVLAELEQ ERPGVVLQQL QLHWTRHPDL PPAHFRKMWA LATGLGSEAI
RQECRWAWAR CQDTWLALDQ KLEASLKLPP VGSTASLCVS QVPAAPAHPP LRKAYSFDRN
LGQSLSEPAC HCHHAATIAA CRRPEAGGGA LPQASPTVPP PGSSDPRSLN RLQLVLAEMV
ATEREYVRAL EYTMENYFPE LDRPDVPQGL RGQRAHLFGN LEKLRDFHCH FFLRELEACT
RHPPRVAYAF LRHRVQFGMY ALYSKNKPRS DALMSSYGHT FFKDKQQALG DHLDLASYLL
KPIQRMGKYA LLLQELARAC GGPTQELSAL REAQSLVHFQ LRHGNDLLAM DAIQGCDVNL
KEQGQLVRQD EFVVRTGRHK SVRRIFLFEE LLLFSKPRHG PTGVDTFAYK RSFKMADLGL
TECCGNSNLR FEIWFRRRKA RDTFVLQASS LAIKQAWTAD ISHLLWRQAV HNKEVRMAEM
VSMGVGNKAF RDIAPSEEAI NDRTVNYVLK CREVRSRASI AVAPFDHDSL YLGASNSLPG
DPASCSVLGS LNLHLYRDPA LLGLRCPLYP SFPEEAALEA EAELGGQPSL TAEDSEISSQ
CPSASGSSGS DSSCVSGQAL GRGLEDLPCV *

mutated AA sequence

MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR PPAGATQDEE
LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS GVESLLCPMS SHLSLAQGTR
DVQGRAVLLL CAHSPAWLQS ECSSQELIRL LLYLRSIPRP EVQALGLTVL VDARICAPSS
SLFSGLSQLQ EAAPGAVYQV LLVGSTLLKE VPSGLQLEQL PSQSLLTHIP TAGLPTSLGG
GLPYCHQAWL DFRRRLEALL QNCQAACALL QGAIESVKAV PQPMEPGEVG QLLQQTEVLM
QQVLDSPWLA WLQCQGGREL TWLKQEVPEV ILSPDYRTAM DKADELYDRV DGLLHQLTLQ
SNQRIQALEL VQTLEARESG LHQIEVWLQQ VGWPALEEAG EPSLDMLLQA QGSFQELYQV
AQEQVRQGEK FLQPLTGWEA AELDPPGARF LALRAQLTEF SRALAQRCQR LADAERLFQL
FREALTWAEE GQRVLAELEQ ERPGVVLQQL QLHWTRHPDL PPAHFRKMWA LATGLGSEAI
RQECRWAWAR CQDTWLALDQ KLEASLKLPP VGSTASLCVS QVPAAPAHPP LRKAYSFDRN
LGQSLSEPAC HCHHAATIAA CRRPEAGGGA LPQASPTVPP PGSSDPRSLN RLQLVLAEMV
ATEREYVRAL EYTMENYFPE LDRPDVPQGL RGQRAHLFGN LEKLRDFHCH FFLRELEACT
RHPPRVAYAF LRHRVQFGMY ALYSKNKPRS DALMSSYGHT FFKDKQQALG DHLDLASYLL
KPIQRMGKYA LLLQELARAC GGPTQELSAL REAQSLVHFQ LRHGNDLLAM DAIQGCDVNL
KEQGQLVRQD EFVVRTGRHK SVRRIFLFEE LLLFSKPRHG PTGVDTFAYK RSFKMADLGL
TECCGNSNLR FEIWFRRRKA RDTFVLQASS LAIKQAWTAD ISHLLWRQAV HNKEVRMAEM
VSMGVGNKAF RDIAPSEEAI NDRTVNYVLK CREVRSRASI AVAPFDHDSL YLGASNSLPG
DPASCSVLGS LNLHLYRDPA LLGLRCPLYP SFPEEAALEA EAELGGQPSL TAEDSEISSQ
CPSASGSSGS DSSCVSGQAL GRGLEDLPCV *

speed

0.54 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: 0.999949849418632 (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)

chr16:67316234C>TN/A show variant in all transcripts IGV

HGNC symbol

PLEKHG4

Ensembl transcript ID

ENST00000360461

Genbank transcript ID

NM_015432

UniProt peptide

Q58EX7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1235C>T
cDNA.3770C>T
g.4822C>T

AA changes

T412I Score: 89 explain score(s)

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

412

frameshift

known variant

Reference ID: rs11860295

database	homozygous (T/T)	heterozygous	allele carriers
1000G	351	520	871
ExAC	2240	10976	13216

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.174	0.132
	0.722	0.293
(flanking)	0.134	0.386

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 marginally increased	4827	wt: 0.9384 / mu: 0.9484 (marginal change - not scored)	wt: CCCTGAGCCCAGACT mu: TCCTGAGCCCAGACT	CTGA\|gccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

412

mutated

not conserved

412

Ptroglodytes

all identical

ENSPTRG00000008225

413

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000009274

416

Mmusculus

all identical

ENSMUSG00000014782

404

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075964

1517

Dmelanogaster

no alignment

FBgn0034194

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008088

936

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3576 / 3576

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

1192 / 1192

position of stopcodon in wt / mu cDNA

6111 / 6111

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

2536 / 2536

chromosome

strand

last intron/exon boundary

6106

theoretical NMD boundary in CDS

3520

length of CDS

3576

coding sequence (CDS) position

1235

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

3770

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

4822

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

67316234

original gDNA sequence snippet

GCAAGAGGTCCCAGAGGTGACCCTGAGCCCAGACTACAGGT

altered gDNA sequence snippet

GCAAGAGGTCCCAGAGGTGATCCTGAGCCCAGACTACAGGT

original cDNA sequence snippet

GCAAGAGGTCCCAGAGGTGACCCTGAGCCCAGACTACAGGA

altered cDNA sequence snippet

GCAAGAGGTCCCAGAGGTGATCCTGAGCCCAGACTACAGGA

wildtype AA sequence

MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR PPAGATQDEE
LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS GVESLLCPMS SHLSLAQGES
DTPGVGLVGD PGPSRAMPSG LSPGALDSDP VGLGDPLSEI SKLLEAAPSG SGLPKPADCL
LAQDLCWELL ASGMATLPGT RDVQGRAVLL LCAHSPAWLQ SECSSQELIR LLLYLRSIPR
PEVQALGLTV LVDARICAPS SSLFSGLSQL QEAAPGAVYQ VLLVGSTLLK EVPSGLQLEQ
LPSQSLLTHI PTAGLPTSLG GGLPYCHQAW LDFRRRLEAL LQNCQAACAL LQGAIESVKA
VPQPMEPGEV GQLLQQTEVL MQQVLDSPWL AWLQCQGGRE LTWLKQEVPE VTLSPDYRTA
MDKADELYDR VDGLLHQLTL QSNQRIQALE LVQTLEARES GLHQIEVWLQ QVGWPALEEA
GEPSLDMLLQ AQGSFQELYQ VAQEQVRQGE KFLQPLTGWE AAELDPPGAR FLALRAQLTE
FSRALAQRCQ RLADAERLFQ LFREALTWAE EGQRVLAELE QERPGVVLQQ LQLHWTRHPD
LPPAHFRKMW ALATGLGSEA IRQECRWAWA RCQDTWLALD QKLEASLKLP PVGSTASLCV
SQVPAAPAHP PLRKAYSFDR NLGQSLSEPA CHCHHAATIA ACRRPEAGGG ALPQASPTVP
PPGSSDPRSL NRLQLVLAEM VATEREYVRA LEYTMENYFP ELDRPDVPQG LRGQRAHLFG
NLEKLRDFHC HFFLRELEAC TRHPPRVAYA FLRHRVQFGM YALYSKNKPR SDALMSSYGH
TFFKDKQQAL GDHLDLASYL LKPIQRMGKY ALLLQELARA CGGPTQELSA LREAQSLVHF
QLRHGNDLLA MDAIQGCDVN LKEQGQLVRQ DEFVVRTGRH KSVRRIFLFE ELLLFSKPRH
GPTGVDTFAY KRSFKMADLG LTECCGNSNL RFEIWFRRRK ARDTFVLQAS SLAIKQAWTA
DISHLLWRQA VHNKEVRMAE MVSMGVGNKA FRDIAPSEEA INDRTVNYVL KCREVRSRAS
IAVAPFDHDS LYLGASNSLP GDPASCSVLG SLNLHLYRDP ALLGLRCPLY PSFPEEAALE
AEAELGGQPS LTAEDSEISS QCPSASGSSG SDSSCVSGQA LGRGLEDLPC V*

mutated AA sequence

MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR PPAGATQDEE
LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS GVESLLCPMS SHLSLAQGES
DTPGVGLVGD PGPSRAMPSG LSPGALDSDP VGLGDPLSEI SKLLEAAPSG SGLPKPADCL
LAQDLCWELL ASGMATLPGT RDVQGRAVLL LCAHSPAWLQ SECSSQELIR LLLYLRSIPR
PEVQALGLTV LVDARICAPS SSLFSGLSQL QEAAPGAVYQ VLLVGSTLLK EVPSGLQLEQ
LPSQSLLTHI PTAGLPTSLG GGLPYCHQAW LDFRRRLEAL LQNCQAACAL LQGAIESVKA
VPQPMEPGEV GQLLQQTEVL MQQVLDSPWL AWLQCQGGRE LTWLKQEVPE VILSPDYRTA
MDKADELYDR VDGLLHQLTL QSNQRIQALE LVQTLEARES GLHQIEVWLQ QVGWPALEEA
GEPSLDMLLQ AQGSFQELYQ VAQEQVRQGE KFLQPLTGWE AAELDPPGAR FLALRAQLTE
FSRALAQRCQ RLADAERLFQ LFREALTWAE EGQRVLAELE QERPGVVLQQ LQLHWTRHPD
LPPAHFRKMW ALATGLGSEA IRQECRWAWA RCQDTWLALD QKLEASLKLP PVGSTASLCV
SQVPAAPAHP PLRKAYSFDR NLGQSLSEPA CHCHHAATIA ACRRPEAGGG ALPQASPTVP
PPGSSDPRSL NRLQLVLAEM VATEREYVRA LEYTMENYFP ELDRPDVPQG LRGQRAHLFG
NLEKLRDFHC HFFLRELEAC TRHPPRVAYA FLRHRVQFGM YALYSKNKPR SDALMSSYGH
TFFKDKQQAL GDHLDLASYL LKPIQRMGKY ALLLQELARA CGGPTQELSA LREAQSLVHF
QLRHGNDLLA MDAIQGCDVN LKEQGQLVRQ DEFVVRTGRH KSVRRIFLFE ELLLFSKPRH
GPTGVDTFAY KRSFKMADLG LTECCGNSNL RFEIWFRRRK ARDTFVLQAS SLAIKQAWTA
DISHLLWRQA VHNKEVRMAE MVSMGVGNKA FRDIAPSEEA INDRTVNYVL KCREVRSRAS
IAVAPFDHDS LYLGASNSLP GDPASCSVLG SLNLHLYRDP ALLGLRCPLY PSFPEEAALE
AEAELGGQPS LTAEDSEISS QCPSASGSSG SDSSCVSGQA LGRGLEDLPC V*

speed

0.55 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999949849418632 (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)

chr16:67316234C>TN/A show variant in all transcripts IGV

HGNC symbol

PLEKHG4

Ensembl transcript ID

ENST00000427155

Genbank transcript ID

NM_001129727

UniProt peptide

Q58EX7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1235C>T
cDNA.1443C>T
g.4822C>T

AA changes

T412I Score: 89 explain score(s)

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

412

frameshift

known variant

Reference ID: rs11860295

database	homozygous (T/T)	heterozygous	allele carriers
1000G	351	520	871
ExAC	2240	10976	13216

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.174	0.132
	0.722	0.293
(flanking)	0.134	0.386

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 marginally increased	4827	wt: 0.9384 / mu: 0.9484 (marginal change - not scored)	wt: CCCTGAGCCCAGACT mu: TCCTGAGCCCAGACT	CTGA\|gccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

412

mutated

not conserved

412

Ptroglodytes

all identical

ENSPTRG00000008225

413

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000009274

416

Mmusculus

all identical

ENSMUSG00000014782

404

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075964

1517

Dmelanogaster

no alignment

FBgn0034194

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008088

936

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3576 / 3576

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

1192 / 1192

position of stopcodon in wt / mu cDNA

3784 / 3784

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

209 / 209

chromosome

strand

last intron/exon boundary

3779

theoretical NMD boundary in CDS

3520

length of CDS

3576

coding sequence (CDS) position

1235

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

1443

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

4822

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

67316234

original gDNA sequence snippet

GCAAGAGGTCCCAGAGGTGACCCTGAGCCCAGACTACAGGT

altered gDNA sequence snippet

GCAAGAGGTCCCAGAGGTGATCCTGAGCCCAGACTACAGGT

original cDNA sequence snippet

GCAAGAGGTCCCAGAGGTGACCCTGAGCCCAGACTACAGGA

altered cDNA sequence snippet

GCAAGAGGTCCCAGAGGTGATCCTGAGCCCAGACTACAGGA

wildtype AA sequence

mutated AA sequence

MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR PPAGATQDEE
LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS GVESLLCPMS SHLSLAQGES
DTPGVGLVGD PGPSRAMPSG LSPGALDSDP VGLGDPLSEI SKLLEAAPSG SGLPKPADCL
LAQDLCWELL ASGMATLPGT RDVQGRAVLL LCAHSPAWLQ SECSSQELIR LLLYLRSIPR
PEVQALGLTV LVDARICAPS SSLFSGLSQL QEAAPGAVYQ VLLVGSTLLK EVPSGLQLEQ
LPSQSLLTHI PTAGLPTSLG GGLPYCHQAW LDFRRRLEAL LQNCQAACAL LQGAIESVKA
VPQPMEPGEV GQLLQQTEVL MQQVLDSPWL AWLQCQGGRE LTWLKQEVPE VILSPDYRTA
MDKADELYDR VDGLLHQLTL QSNQRIQALE LVQTLEARES GLHQIEVWLQ QVGWPALEEA
GEPSLDMLLQ AQGSFQELYQ VAQEQVRQGE KFLQPLTGWE AAELDPPGAR FLALRAQLTE
FSRALAQRCQ RLADAERLFQ LFREALTWAE EGQRVLAELE QERPGVVLQQ LQLHWTRHPD
LPPAHFRKMW ALATGLGSEA IRQECRWAWA RCQDTWLALD QKLEASLKLP PVGSTASLCV
SQVPAAPAHP PLRKAYSFDR NLGQSLSEPA CHCHHAATIA ACRRPEAGGG ALPQASPTVP
PPGSSDPRSL NRLQLVLAEM VATEREYVRA LEYTMENYFP ELDRPDVPQG LRGQRAHLFG
NLEKLRDFHC HFFLRELEAC TRHPPRVAYA FLRHRVQFGM YALYSKNKPR SDALMSSYGH
TFFKDKQQAL GDHLDLASYL LKPIQRMGKY ALLLQELARA CGGPTQELSA LREAQSLVHF
QLRHGNDLLA MDAIQGCDVN LKEQGQLVRQ DEFVVRTGRH KSVRRIFLFE ELLLFSKPRH
GPTGVDTFAY KRSFKMADLG LTECCGNSNL RFEIWFRRRK ARDTFVLQAS SLAIKQAWTA
DISHLLWRQA VHNKEVRMAE MVSMGVGNKA FRDIAPSEEA INDRTVNYVL KCREVRSRAS
IAVAPFDHDS LYLGASNSLP GDPASCSVLG SLNLHLYRDP ALLGLRCPLY PSFPEEAALE
AEAELGGQPS LTAEDSEISS QCPSASGSSG SDSSCVSGQA LGRGLEDLPC V*

speed

0.60 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999949849418632 (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)

chr16:67316234C>TN/A show variant in all transcripts IGV

HGNC symbol

PLEKHG4

Ensembl transcript ID

ENST00000379344

Genbank transcript ID

NM_001129729

UniProt peptide

Q58EX7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1235C>T
cDNA.1507C>T
g.4822C>T

AA changes

T412I Score: 89 explain score(s)

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

412

frameshift

known variant

Reference ID: rs11860295

database	homozygous (T/T)	heterozygous	allele carriers
1000G	351	520	871
ExAC	2240	10976	13216

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.174	0.132
	0.722	0.293
(flanking)	0.134	0.386

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 marginally increased	4827	wt: 0.9384 / mu: 0.9484 (marginal change - not scored)	wt: CCCTGAGCCCAGACT mu: TCCTGAGCCCAGACT	CTGA\|gccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

412

mutated

not conserved

412

Ptroglodytes

all identical

ENSPTRG00000008225

413

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000009274

416

Mmusculus

all identical

ENSMUSG00000014782

404

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075964

1517

Dmelanogaster

no alignment

FBgn0034194

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008088

936

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3576 / 3576

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

1192 / 1192

position of stopcodon in wt / mu cDNA

3848 / 3848

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

273 / 273

chromosome

strand

last intron/exon boundary

3843

theoretical NMD boundary in CDS

3520

length of CDS

3576

coding sequence (CDS) position

1235

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

1507

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

4822

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

67316234

original gDNA sequence snippet

GCAAGAGGTCCCAGAGGTGACCCTGAGCCCAGACTACAGGT

altered gDNA sequence snippet

GCAAGAGGTCCCAGAGGTGATCCTGAGCCCAGACTACAGGT

original cDNA sequence snippet

GCAAGAGGTCCCAGAGGTGACCCTGAGCCCAGACTACAGGA

altered cDNA sequence snippet

GCAAGAGGTCCCAGAGGTGATCCTGAGCCCAGACTACAGGA

wildtype AA sequence

mutated AA sequence

MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR PPAGATQDEE
LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS GVESLLCPMS SHLSLAQGES
DTPGVGLVGD PGPSRAMPSG LSPGALDSDP VGLGDPLSEI SKLLEAAPSG SGLPKPADCL
LAQDLCWELL ASGMATLPGT RDVQGRAVLL LCAHSPAWLQ SECSSQELIR LLLYLRSIPR
PEVQALGLTV LVDARICAPS SSLFSGLSQL QEAAPGAVYQ VLLVGSTLLK EVPSGLQLEQ
LPSQSLLTHI PTAGLPTSLG GGLPYCHQAW LDFRRRLEAL LQNCQAACAL LQGAIESVKA
VPQPMEPGEV GQLLQQTEVL MQQVLDSPWL AWLQCQGGRE LTWLKQEVPE VILSPDYRTA
MDKADELYDR VDGLLHQLTL QSNQRIQALE LVQTLEARES GLHQIEVWLQ QVGWPALEEA
GEPSLDMLLQ AQGSFQELYQ VAQEQVRQGE KFLQPLTGWE AAELDPPGAR FLALRAQLTE
FSRALAQRCQ RLADAERLFQ LFREALTWAE EGQRVLAELE QERPGVVLQQ LQLHWTRHPD
LPPAHFRKMW ALATGLGSEA IRQECRWAWA RCQDTWLALD QKLEASLKLP PVGSTASLCV
SQVPAAPAHP PLRKAYSFDR NLGQSLSEPA CHCHHAATIA ACRRPEAGGG ALPQASPTVP
PPGSSDPRSL NRLQLVLAEM VATEREYVRA LEYTMENYFP ELDRPDVPQG LRGQRAHLFG
NLEKLRDFHC HFFLRELEAC TRHPPRVAYA FLRHRVQFGM YALYSKNKPR SDALMSSYGH
TFFKDKQQAL GDHLDLASYL LKPIQRMGKY ALLLQELARA CGGPTQELSA LREAQSLVHF
QLRHGNDLLA MDAIQGCDVN LKEQGQLVRQ DEFVVRTGRH KSVRRIFLFE ELLLFSKPRH
GPTGVDTFAY KRSFKMADLG LTECCGNSNL RFEIWFRRRK ARDTFVLQAS SLAIKQAWTA
DISHLLWRQA VHNKEVRMAE MVSMGVGNKA FRDIAPSEEA INDRTVNYVL KCREVRSRAS
IAVAPFDHDS LYLGASNSLP GDPASCSVLG SLNLHLYRDP ALLGLRCPLY PSFPEEAALE
AEAELGGQPS LTAEDSEISS QCPSASGSSG SDSSCVSGQA LGRGLEDLPC V*

speed

0.54 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