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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000532891
Querying Taster for transcript #2: ENST00000528273
Querying Taster for transcript #3: ENST00000428638
Querying Taster for transcript #4: ENST00000442348
Querying Taster for transcript #5: ENST00000290470
MT speed 4.26 s - this script 4.741936 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ARHGAP27	polymorphism_automatic	1.49991130626859e-13	simple_aae		affected		P213R	single base exchange	rs2959953		show file
ARHGAP27	polymorphism_automatic	1.49991130626859e-13	simple_aae		affected		P213R	single base exchange	rs2959953		show file
ARHGAP27	polymorphism_automatic	7.4540373873333e-12	simple_aae		affected		P213R	single base exchange	rs2959953		show file
ARHGAP27	polymorphism_automatic	7.4540373873333e-12	simple_aae		affected		P213R	single base exchange	rs2959953		show file
ARHGAP27	polymorphism_automatic	7.4540373873333e-12	simple_aae		affected		P213R	single base exchange	rs2959953		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999985 (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)

chr17:43507008G>CN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP27

Ensembl transcript ID

ENST00000528273

Genbank transcript ID

NM_174919

UniProt peptide

Q6ZUM4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.638C>G
cDNA.2029C>G
g.4780C>G

AA changes

P213R Score: 103 explain score(s)

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

213

frameshift

known variant

Reference ID: rs2959953

database	homozygous (C/C)	heterozygous	allele carriers
1000G	975	1153	2128
ExAC	13872	5023	18895

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.012	0
	-0.566	0
(flanking)	0.314	0.001

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 gained	4774	0.91	mu: CGTCCCGCCGCGGGA	TCCC\|gccg
Donor gained	4779	0.49	mu: CGCCGCGGGAGGAGA	CCGC\|ggga

distance from splice site

291

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

213

mutated

not conserved

213

Ptroglodytes

not conserved

ENSPTRG00000009304

213

VDD

Mmulatta

not conserved

ENSMMUG00000021932

319

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000034255

212

VDD

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000005700

n/a

Drerio

no alignment

ENSDARG00000061798

n/a

Dmelanogaster

no homologue

Celegans

all identical

C38D4.5

ELNSRP

Xtropicalis

no alignment

ENSXETG00000003467

n/a

protein features

start (aa)	end (aa)	feature	details
213	213	CONFLICT	P -> R (in Ref. 4; AAH67345).	lost
216	216	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
228	228	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
246	280	DOMAIN	WW 1.	might get lost (downstream of altered splice site)
299	333	DOMAIN	WW 2.	might get lost (downstream of altered splice site)
411	444	DOMAIN	WW 3.	might get lost (downstream of altered splice site)
496	612	DOMAIN	PH.	might get lost (downstream of altered splice site)
499	510	STRAND		might get lost (downstream of altered splice site)
521	528	STRAND		might get lost (downstream of altered splice site)
531	536	STRAND		might get lost (downstream of altered splice site)
549	552	HELIX		might get lost (downstream of altered splice site)
554	560	STRAND		might get lost (downstream of altered splice site)
565	568	STRAND		might get lost (downstream of altered splice site)
571	573	HELIX		might get lost (downstream of altered splice site)
575	583	STRAND		might get lost (downstream of altered splice site)
589	593	STRAND		might get lost (downstream of altered splice site)
597	611	HELIX		might get lost (downstream of altered splice site)
638	638	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
697	886	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

792 / 792

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

264 / 264

position of stopcodon in wt / mu cDNA

2183 / 2183

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

1392 / 1392

chromosome

strand

-1

last intron/exon boundary

1374

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

792

coding sequence (CDS) position

638

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

2029

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

4780

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

43507008

original gDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered gDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

original cDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered cDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

wildtype AA sequence

mutated AA sequence

speed

0.93 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: 0.99999999999985 (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)

chr17:43507008G>CN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP27

Ensembl transcript ID

ENST00000290470

Genbank transcript ID

N/A

UniProt peptide

Q6ZUM4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.638C>G
cDNA.1087C>G
g.4780C>G

AA changes

P213R Score: 103 explain score(s)

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

213

frameshift

known variant

Reference ID: rs2959953

database	homozygous (C/C)	heterozygous	allele carriers
1000G	975	1153	2128
ExAC	13872	5023	18895

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.012	0
	-0.566	0
(flanking)	0.314	0.001

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 gained	4774	0.91	mu: CGTCCCGCCGCGGGA	TCCC\|gccg
Donor gained	4779	0.49	mu: CGCCGCGGGAGGAGA	CCGC\|ggga

distance from splice site

290

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

213

mutated

not conserved

213

Ptroglodytes

not conserved

ENSPTRG00000009304

213

VDD

Mmulatta

not conserved

ENSMMUG00000021932

319

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000034255

212

VDD

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000005700

n/a

Drerio

no alignment

ENSDARG00000061798

n/a

Dmelanogaster

no homologue

Celegans

all identical

C38D4.5

ELNSRP

Xtropicalis

no alignment

ENSXETG00000003467

n/a

protein features

start (aa)	end (aa)	feature	details
213	213	CONFLICT	P -> R (in Ref. 4; AAH67345).	lost
216	216	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
228	228	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
246	280	DOMAIN	WW 1.	might get lost (downstream of altered splice site)
299	333	DOMAIN	WW 2.	might get lost (downstream of altered splice site)
411	444	DOMAIN	WW 3.	might get lost (downstream of altered splice site)
496	612	DOMAIN	PH.	might get lost (downstream of altered splice site)
499	510	STRAND		might get lost (downstream of altered splice site)
521	528	STRAND		might get lost (downstream of altered splice site)
531	536	STRAND		might get lost (downstream of altered splice site)
549	552	HELIX		might get lost (downstream of altered splice site)
554	560	STRAND		might get lost (downstream of altered splice site)
565	568	STRAND		might get lost (downstream of altered splice site)
571	573	HELIX		might get lost (downstream of altered splice site)
575	583	STRAND		might get lost (downstream of altered splice site)
589	593	STRAND		might get lost (downstream of altered splice site)
597	611	HELIX		might get lost (downstream of altered splice site)
638	638	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
697	886	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

792 / 792

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

264 / 264

position of stopcodon in wt / mu cDNA

1241 / 1241

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

450 / 450

chromosome

strand

-1

last intron/exon boundary

432

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

792

coding sequence (CDS) position

638

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

1087

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

4780

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

43507008

original gDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered gDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

original cDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered cDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

wildtype AA sequence

mutated AA sequence

speed

0.93 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999992546 (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)

chr17:43507008G>CN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP27

Ensembl transcript ID

ENST00000532891

Genbank transcript ID

N/A

UniProt peptide

Q6ZUM4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.638C>G
cDNA.638C>G
g.4780C>G

AA changes

P213R Score: 103 explain score(s)

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

213

frameshift

known variant

Reference ID: rs2959953

database	homozygous (C/C)	heterozygous	allele carriers
1000G	975	1153	2128
ExAC	13872	5023	18895

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.012	0
	-0.566	0
(flanking)	0.314	0.001

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 gained	4774	0.91	mu: CGTCCCGCCGCGGGA	TCCC\|gccg
Donor gained	4779	0.49	mu: CGCCGCGGGAGGAGA	CCGC\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

213

mutated

not conserved

213

Ptroglodytes

not conserved

ENSPTRG00000009304

213

Mmulatta

all identical

ENSMMUG00000021932

150

RSI

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000034255

212

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000005700

n/a

Drerio

all identical

ENSDARG00000061798

264

DLSLLTDKEPAGLPDAQTTTSSL

Dmelanogaster

no homologue

Celegans

not conserved

C38D4.5

Xtropicalis

no alignment

ENSXETG00000003467

n/a

protein features

start (aa)	end (aa)	feature	details
213	213	CONFLICT	P -> R (in Ref. 4; AAH67345).	lost
216	216	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
228	228	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
246	280	DOMAIN	WW 1.	might get lost (downstream of altered splice site)
299	333	DOMAIN	WW 2.	might get lost (downstream of altered splice site)
411	444	DOMAIN	WW 3.	might get lost (downstream of altered splice site)
496	612	DOMAIN	PH.	might get lost (downstream of altered splice site)
499	510	STRAND		might get lost (downstream of altered splice site)
521	528	STRAND		might get lost (downstream of altered splice site)
531	536	STRAND		might get lost (downstream of altered splice site)
549	552	HELIX		might get lost (downstream of altered splice site)
554	560	STRAND		might get lost (downstream of altered splice site)
565	568	STRAND		might get lost (downstream of altered splice site)
571	573	HELIX		might get lost (downstream of altered splice site)
575	583	STRAND		might get lost (downstream of altered splice site)
589	593	STRAND		might get lost (downstream of altered splice site)
597	611	HELIX		might get lost (downstream of altered splice site)
638	638	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
697	886	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2604 / 2604

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

868 / 868

position of stopcodon in wt / mu cDNA

2604 / 2604

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

2427

theoretical NMD boundary in CDS

2376

length of CDS

2604

coding sequence (CDS) position

638

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

638

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

4780

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

43507008

original gDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered gDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

original cDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered cDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

wildtype AA sequence

MAADVVGDVY VLVEHPFEYT GKDGRRVAIR PNERYRLLRR STEHWWHVRR EPGGRPFYLP
AQYVRELPAL GNPAAAAPPG PHPSPAAPEP LAYDYRFVSA AATAGPDGAP EESGGRASSL
CGPAQRGAAT QRSSLAPGLP ACLYLRPAAP VRPAQSLNDL ACAAVSPPAG LLGSSGSFKA
CSVAGSWVCP RPLARSDSEN VYEVIQDLHV PPPEESAEQV DDPPEPVYAN IERQPRATSP
GAAAAPLPSP VWETHTDAGT GRPYYYNPDT GVTTWESPFE AAEGAASPAT SPASVDSHVS
LETEWGQYWD EESRRVFFYN PLTGETAWED EAENEPEEEL EMQPGLSPGS PGDPRPPTPE
TDYPESLTSY PEEDYSPVGS FGEPGPTSPL TTPPGWSCHV SQDKQMLYTN HFTQEQWVRL
EDPHGKPYFY NPEDSSVRWE LPQVPVPAPR SIHKSSQDGD TPAQASPPEE KTKTLDKAGV
LHRTKTADKG KRLRKKHWSA SWTVLEGGVL TFFKDSKTSA AGGLRQPSKF STPEYTVELR
GATLSWAPKD KSSRKNVLEL RSRDGSEYLI QHDSEAIIST WHKAIAQGIQ ELSAELPPEE
SESSRVDFGS SERLGSWQEK EEDARPNAAA PALGPVGLES DLSKVRHKLR KFLQRRPTLQ
SLREKGYIKD QVFGCALAAL CERERSRVPR FVQQCIRAVE ARGLDIDGLY RISGNLATIQ
KLRYKVDHDE RLDLDDGRWE DVHVITGALK LFFRELPEPL FPFSHFRQFI AAIKLQDQAR
RSRCVRDLVR SLPAPNHDTL RMLFQHLCRV IEHGEQNRMS VQSVAIVFGP TLLRPEVEET
SMPMTMVFQN QVVELILQQC ADIFPPH*

mutated AA sequence

MAADVVGDVY VLVEHPFEYT GKDGRRVAIR PNERYRLLRR STEHWWHVRR EPGGRPFYLP
AQYVRELPAL GNPAAAAPPG PHPSPAAPEP LAYDYRFVSA AATAGPDGAP EESGGRASSL
CGPAQRGAAT QRSSLAPGLP ACLYLRPAAP VRPAQSLNDL ACAAVSPPAG LLGSSGSFKA
CSVAGSWVCP RPLARSDSEN VYEVIQDLHV PPREESAEQV DDPPEPVYAN IERQPRATSP
GAAAAPLPSP VWETHTDAGT GRPYYYNPDT GVTTWESPFE AAEGAASPAT SPASVDSHVS
LETEWGQYWD EESRRVFFYN PLTGETAWED EAENEPEEEL EMQPGLSPGS PGDPRPPTPE
TDYPESLTSY PEEDYSPVGS FGEPGPTSPL TTPPGWSCHV SQDKQMLYTN HFTQEQWVRL
EDPHGKPYFY NPEDSSVRWE LPQVPVPAPR SIHKSSQDGD TPAQASPPEE KTKTLDKAGV
LHRTKTADKG KRLRKKHWSA SWTVLEGGVL TFFKDSKTSA AGGLRQPSKF STPEYTVELR
GATLSWAPKD KSSRKNVLEL RSRDGSEYLI QHDSEAIIST WHKAIAQGIQ ELSAELPPEE
SESSRVDFGS SERLGSWQEK EEDARPNAAA PALGPVGLES DLSKVRHKLR KFLQRRPTLQ
SLREKGYIKD QVFGCALAAL CERERSRVPR FVQQCIRAVE ARGLDIDGLY RISGNLATIQ
KLRYKVDHDE RLDLDDGRWE DVHVITGALK LFFRELPEPL FPFSHFRQFI AAIKLQDQAR
RSRCVRDLVR SLPAPNHDTL RMLFQHLCRV IEHGEQNRMS VQSVAIVFGP TLLRPEVEET
SMPMTMVFQN QVVELILQQC ADIFPPH*

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999992546 (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)

chr17:43507008G>CN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP27

Ensembl transcript ID

ENST00000428638

Genbank transcript ID

N/A

UniProt peptide

Q6ZUM4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.638C>G
cDNA.638C>G
g.4780C>G

AA changes

P213R Score: 103 explain score(s)

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

213

frameshift

known variant

Reference ID: rs2959953

database	homozygous (C/C)	heterozygous	allele carriers
1000G	975	1153	2128
ExAC	13872	5023	18895

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.012	0
	-0.566	0
(flanking)	0.314	0.001

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 gained	4774	0.91	mu: CGTCCCGCCGCGGGA	TCCC\|gccg
Donor gained	4779	0.49	mu: CGCCGCGGGAGGAGA	CCGC\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

213

mutated

not conserved

213

Ptroglodytes

not conserved

ENSPTRG00000009304

213

Mmulatta

all identical

ENSMMUG00000021932

150

RSI

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000034255

212

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000005700

n/a

Drerio

all identical

ENSDARG00000061798

214

EIP

Dmelanogaster

no homologue

Celegans

not conserved

C38D4.5

Xtropicalis

no alignment

ENSXETG00000003467

n/a

protein features

start (aa)	end (aa)	feature	details
213	213	CONFLICT	P -> R (in Ref. 4; AAH67345).	lost
216	216	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
228	228	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
246	280	DOMAIN	WW 1.	might get lost (downstream of altered splice site)
299	333	DOMAIN	WW 2.	might get lost (downstream of altered splice site)
411	444	DOMAIN	WW 3.	might get lost (downstream of altered splice site)
496	612	DOMAIN	PH.	might get lost (downstream of altered splice site)
499	510	STRAND		might get lost (downstream of altered splice site)
521	528	STRAND		might get lost (downstream of altered splice site)
531	536	STRAND		might get lost (downstream of altered splice site)
549	552	HELIX		might get lost (downstream of altered splice site)
554	560	STRAND		might get lost (downstream of altered splice site)
565	568	STRAND		might get lost (downstream of altered splice site)
571	573	HELIX		might get lost (downstream of altered splice site)
575	583	STRAND		might get lost (downstream of altered splice site)
589	593	STRAND		might get lost (downstream of altered splice site)
597	611	HELIX		might get lost (downstream of altered splice site)
638	638	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
697	886	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2670 / 2670

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

890 / 890

position of stopcodon in wt / mu cDNA

2670 / 2670

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

2493

theoretical NMD boundary in CDS

2442

length of CDS

2670

coding sequence (CDS) position

638

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

638

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

4780

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

43507008

original gDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered gDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

original cDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered cDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

wildtype AA sequence

MAADVVGDVY VLVEHPFEYT GKDGRRVAIR PNERYRLLRR STEHWWHVRR EPGGRPFYLP
AQYVRELPAL GNPAAAAPPG PHPSPAAPEP LAYDYRFVSA AATAGPDGAP EESGGRASSL
CGPAQRGAAT QRSSLAPGLP ACLYLRPAAP VRPAQSLNDL ACAAVSPPAG LLGSSGSFKA
CSVAGSWVCP RPLARSDSEN VYEVIQDLHV PPPEESAEQV DDPPEPVYAN IERQPRATSP
GAAAAPLPSP VWETHTDAGT GRPYYYNPDT GVTTWESPFE AAEGAASPAT SPASVDSHVS
LETEWGQYWD EESRRVFFYN PLTGETAWED EAENEPEEEL EMQPGLSPGS PGDPRPPTPE
TDYPESLTSY PEEDYSPVGS FGEPGPTSPL TTPPGWSCHV SQDKQMLYTN HFTQEQWVRL
EDPHGKPYFY NPEDSSVRWE LPQVPVPAPR SIHKSSQDGD TPAQASPPEE KVPAELDEVG
SWEEVSPATA AVRTKTLDKA GVLHRTKTAD KGKRLRKKHW SASWTVLEGG VLTFFKDSKT
SAAGGLRQPS KFSTPEYTVE LRGATLSWAP KDKSSRKNVL ELRSRDGSEY LIQHDSEAII
STWHKAIAQG IQELSAELPP EESESSRVDF GSSERLGSWQ EKEEDARPNA AAPALGPVGL
ESDLSKVRHK LRKFLQRRPT LQSLREKGYI KDQVFGCALA ALCERERSRV PRFVQQCIRA
VEARGLDIDG LYRISGNLAT IQKLRYKVDH DERLDLDDGR WEDVHVITGA LKLFFRELPE
PLFPFSHFRQ FIAAIKLQDQ ARRSRCVRDL VRSLPAPNHD TLRMLFQHLC RVIEHGEQNR
MSVQSVAIVF GPTLLRPEVE ETSMPMTMVF QNQVVELILQ QCADIFPPH*

mutated AA sequence

MAADVVGDVY VLVEHPFEYT GKDGRRVAIR PNERYRLLRR STEHWWHVRR EPGGRPFYLP
AQYVRELPAL GNPAAAAPPG PHPSPAAPEP LAYDYRFVSA AATAGPDGAP EESGGRASSL
CGPAQRGAAT QRSSLAPGLP ACLYLRPAAP VRPAQSLNDL ACAAVSPPAG LLGSSGSFKA
CSVAGSWVCP RPLARSDSEN VYEVIQDLHV PPREESAEQV DDPPEPVYAN IERQPRATSP
GAAAAPLPSP VWETHTDAGT GRPYYYNPDT GVTTWESPFE AAEGAASPAT SPASVDSHVS
LETEWGQYWD EESRRVFFYN PLTGETAWED EAENEPEEEL EMQPGLSPGS PGDPRPPTPE
TDYPESLTSY PEEDYSPVGS FGEPGPTSPL TTPPGWSCHV SQDKQMLYTN HFTQEQWVRL
EDPHGKPYFY NPEDSSVRWE LPQVPVPAPR SIHKSSQDGD TPAQASPPEE KVPAELDEVG
SWEEVSPATA AVRTKTLDKA GVLHRTKTAD KGKRLRKKHW SASWTVLEGG VLTFFKDSKT
SAAGGLRQPS KFSTPEYTVE LRGATLSWAP KDKSSRKNVL ELRSRDGSEY LIQHDSEAII
STWHKAIAQG IQELSAELPP EESESSRVDF GSSERLGSWQ EKEEDARPNA AAPALGPVGL
ESDLSKVRHK LRKFLQRRPT LQSLREKGYI KDQVFGCALA ALCERERSRV PRFVQQCIRA
VEARGLDIDG LYRISGNLAT IQKLRYKVDH DERLDLDDGR WEDVHVITGA LKLFFRELPE
PLFPFSHFRQ FIAAIKLQDQ ARRSRCVRDL VRSLPAPNHD TLRMLFQHLC RVIEHGEQNR
MSVQSVAIVF GPTLLRPEVE ETSMPMTMVF QNQVVELILQ QCADIFPPH*

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999992546 (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)

chr17:43507008G>CN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP27

Ensembl transcript ID

ENST00000442348

Genbank transcript ID

N/A

UniProt peptide

Q6ZUM4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.638C>G
cDNA.638C>G
g.4780C>G

AA changes

P213R Score: 103 explain score(s)

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

213

frameshift

known variant

Reference ID: rs2959953

database	homozygous (C/C)	heterozygous	allele carriers
1000G	975	1153	2128
ExAC	13872	5023	18895

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.012	0
	-0.566	0
(flanking)	0.314	0.001

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 gained	4774	0.91	mu: CGTCCCGCCGCGGGA	TCCC\|gccg
Donor gained	4779	0.49	mu: CGCCGCGGGAGGAGA	CCGC\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

213

mutated

not conserved

213

Ptroglodytes

not conserved

ENSPTRG00000009304

213

Mmulatta

all identical

ENSMMUG00000021932

150

RSI

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000034255

212

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000005700

n/a

Drerio

all identical

ENSDARG00000061798

264

DLSLLTDKEPAGLPDAQTTTSSL

Dmelanogaster

no homologue

Celegans

not conserved

C38D4.5

Xtropicalis

no alignment

ENSXETG00000003467

n/a

protein features

start (aa)	end (aa)	feature	details
213	213	CONFLICT	P -> R (in Ref. 4; AAH67345).	lost
216	216	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
228	228	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
246	280	DOMAIN	WW 1.	might get lost (downstream of altered splice site)
299	333	DOMAIN	WW 2.	might get lost (downstream of altered splice site)
411	444	DOMAIN	WW 3.	might get lost (downstream of altered splice site)
496	612	DOMAIN	PH.	might get lost (downstream of altered splice site)
499	510	STRAND		might get lost (downstream of altered splice site)
521	528	STRAND		might get lost (downstream of altered splice site)
531	536	STRAND		might get lost (downstream of altered splice site)
549	552	HELIX		might get lost (downstream of altered splice site)
554	560	STRAND		might get lost (downstream of altered splice site)
565	568	STRAND		might get lost (downstream of altered splice site)
571	573	HELIX		might get lost (downstream of altered splice site)
575	583	STRAND		might get lost (downstream of altered splice site)
589	593	STRAND		might get lost (downstream of altered splice site)
597	611	HELIX		might get lost (downstream of altered splice site)
638	638	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
697	886	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2589 / 2589

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

863 / 863

position of stopcodon in wt / mu cDNA

2589 / 2589

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

2412

theoretical NMD boundary in CDS

2361

length of CDS

2589

coding sequence (CDS) position

638

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

638

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

4780

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

43507008

original gDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered gDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

original cDNA sequence snippet

GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG

altered cDNA sequence snippet

GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG

wildtype AA sequence

MAADVVGDVY VLVEHPFEYT GKDGRRVAIR PNERYRLLRR STEHWWHVRR EPGGRPFYLP
AQYVRELPAL GNPAAAAPPG PHPSPAAPEP LAYDYRFVSA AATAGPDGAP EESGGRASSL
CGPAQRGAAT QRSSLAPGLP ACLYLRPAAP VRPAQSLNDL ACAAVSPPAG LLGSSGSFKA
CSVAGSWVCP RPLARSDSEN VYEVIQDLHV PPPEESAEQV DDPPEPVYAN IERQPRATSP
GAAAAPLPSP VWETHTDAGT GRPYYYNPDT GVTTWESPFE AAEGAASPAT SPASVDSHVS
LETEWGQYWD EESRRVFFYN PLTGETAWED EAENEPEEEL EMQPGLSPGS PGDPRPPTPE
TDYPESLTSY PEEDYSPVGS FGEPGPTSPL TTPPGWSCHV SQDKQMLYTN HFTQEQVPVP
APRSIHKSSQ DGDTPAQASP PEEKVPAELD EVGSWEEVSP ATAAVRTKTL DKAGVLHRTK
TADKGKRLRK KHWSASWTVL EGGVLTFFKD SKTSAAGGLR QPSKFSTPEY TVELRGATLS
WAPKDKSSRK NVLELRSRDG SEYLIQHDSE AIISTWHKAI AQGIQELSAE LPPEESESSR
VDFGSSERLG SWQEKEEDAR PNAAAPALGP VGLESDLSKV RHKLRKFLQR RPTLQSLREK
GYIKDQVFGC ALAALCERER SRVPRFVQQC IRAVEARGLD IDGLYRISGN LATIQKLRYK
VDHDERLDLD DGRWEDVHVI TGALKLFFRE LPEPLFPFSH FRQFIAAIKL QDQARRSRCV
RDLVRSLPAP NHDTLRMLFQ HLCRVIEHGE QNRMSVQSVA IVFGPTLLRP EVEETSMPMT
MVFQNQVVEL ILQQCADIFP PH*

mutated AA sequence

MAADVVGDVY VLVEHPFEYT GKDGRRVAIR PNERYRLLRR STEHWWHVRR EPGGRPFYLP
AQYVRELPAL GNPAAAAPPG PHPSPAAPEP LAYDYRFVSA AATAGPDGAP EESGGRASSL
CGPAQRGAAT QRSSLAPGLP ACLYLRPAAP VRPAQSLNDL ACAAVSPPAG LLGSSGSFKA
CSVAGSWVCP RPLARSDSEN VYEVIQDLHV PPREESAEQV DDPPEPVYAN IERQPRATSP
GAAAAPLPSP VWETHTDAGT GRPYYYNPDT GVTTWESPFE AAEGAASPAT SPASVDSHVS
LETEWGQYWD EESRRVFFYN PLTGETAWED EAENEPEEEL EMQPGLSPGS PGDPRPPTPE
TDYPESLTSY PEEDYSPVGS FGEPGPTSPL TTPPGWSCHV SQDKQMLYTN HFTQEQVPVP
APRSIHKSSQ DGDTPAQASP PEEKVPAELD EVGSWEEVSP ATAAVRTKTL DKAGVLHRTK
TADKGKRLRK KHWSASWTVL EGGVLTFFKD SKTSAAGGLR QPSKFSTPEY TVELRGATLS
WAPKDKSSRK NVLELRSRDG SEYLIQHDSE AIISTWHKAI AQGIQELSAE LPPEESESSR
VDFGSSERLG SWQEKEEDAR PNAAAPALGP VGLESDLSKV RHKLRKFLQR RPTLQSLREK
GYIKDQVFGC ALAALCERER SRVPRFVQQC IRAVEARGLD IDGLYRISGN LATIQKLRYK
VDHDERLDLD DGRWEDVHVI TGALKLFFRE LPEPLFPFSH FRQFIAAIKL QDQARRSRCV
RDLVRSLPAP NHDTLRMLFQ HLCRVIEHGE QNRMSVQSVA IVFGPTLLRP EVEETSMPMT
MVFQNQVVEL ILQQCADIFP PH*

speed

0.77 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

mutation t@sting

Prediction

polymorphism

Problems