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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000539243
Querying Taster for transcript #2: ENST00000313093
Querying Taster for transcript #3: ENST00000590214
Querying Taster for transcript #4: ENST00000586866
Querying Taster for transcript #5: ENST00000543365
Querying Taster for transcript #6: ENST00000536472
MT speed 0 s - this script 3.9324 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ARHGAP45	polymorphism_automatic	8.30502333570848e-12	simple_aae		affected		E275D	single base exchange	rs2074442		show file
ARHGAP45	polymorphism_automatic	8.30502333570848e-12	simple_aae		affected		E259D	single base exchange	rs2074442		show file
ARHGAP45	polymorphism_automatic	8.30502333570848e-12	simple_aae		affected		E286D	single base exchange	rs2074442		show file
ARHGAP45	polymorphism_automatic	8.30502333570848e-12	simple_aae		affected		E263D	single base exchange	rs2074442		show file
ARHGAP45	polymorphism_automatic	2.48560061422154e-11	simple_aae		affected		E142D	single base exchange	rs2074442		show file
ARHGAP45	polymorphism_automatic	4.396094599457e-11	simple_aae		affected		E99D	single base exchange	rs2074442		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999991695 (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)

chr19:1074000A>TN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP45

Ensembl transcript ID

ENST00000539243

Genbank transcript ID

N/A

UniProt peptide

Q92619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.825A>T
cDNA.928A>T
g.8079A>T

AA changes

E275D Score: 45 explain score(s)

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

275

frameshift

known variant

Reference ID: rs2074442

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1541	807	2348
ExAC	26577	-20387	6190

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.043	0.086
	-0.718	0.027
(flanking)	1.108	0.042

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	8071	wt: 0.53 / mu: 0.66	wt: CTCCCAGCCTGGAAG mu: CTCCCAGCCTGGATG	CCCA\|gcct

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

275

mutated

all conserved

275

Ptroglodytes

all conserved

ENSPTRG00000010180

259

Mmulatta

all conserved

ENSMMUG00000015301

259

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035697

269

Ggallus

not conserved

ENSGALG00000002559

189

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062049

284

Dmelanogaster

no homologue

Celegans

not conserved

ZK669.1

185

Xtropicalis

all identical

ENSXETG00000003287

274

GGL

protein features

start (aa)	end (aa)	feature	details
305	305	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
376	412	COILED	Potential.	might get lost (downstream of altered splice site)
440	499	COILED	Potential.	might get lost (downstream of altered splice site)
569	569	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
578	578	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
619	619	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
702	747	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
761	974	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)
1027	1027	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1030	1030	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1032	1032	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3459 / 3459

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

1153 / 1153

position of stopcodon in wt / mu cDNA

3562 / 3562

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

104 / 104

chromosome

strand

last intron/exon boundary

3216

theoretical NMD boundary in CDS

3062

length of CDS

3459

coding sequence (CDS) position

825

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

928

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

8079

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

1074000

original gDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGTAAGCC

altered gDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGTAAGCC

original cDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGCTGCCT

altered cDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGCTGCCT

wildtype AA sequence

MSRGQRVLKG LLGWVCTWTW AWRARLGARG CGLHVLCPRD LPLPPEELPR KDGADAVFPG
PSLEPPAGSS GVKATGTLKR PTSLSRHASA AGFPLSGAAS WTLGRSHRSP LTAASPGELP
TEGAGPDVVE DISHLLADVA RFAEGLEKLK ECVLRDDLLE ARRPRAHECL GEALRVMHQI
ISKYPLLNTV ETLTAAGTLI AKVKAFHYES NNDLEKQEFE KALETIAVAF SSTVSEFLMG
EVDSSTLLAV PPGDSSQSME SLYGPGSEGT PPSLEDCDAG CLPAEEVDVL LQRCEGGVDA
ALLYAKNMAK YMKDLISYLE KRTTLEMEFA KGLQKIAHNC RQSVMQEPHM PLLSIYSLAL
EQDLEFGHSM VQAVGTLQTQ TFMQPLTLRR LEHEKRRKEI KEAWHRAQRK LQEAESNLRK
AKQGYVQRCE DHDKARFLVA KAEEEQAGSA PGAGSTATKT LDKRRRLEEE AKNKAEEAMA
TYRTCVADAK TQKQELEDTK VTALRQIQEV IRQSDQTIKS ATISYYQMMH MQTAPLPVHF
QMLCESSKLY DPGQQYASHV RQLQRDQEPD VHYDFEPHVS ANAWSPVMRA RKSSFNVSDV
ARPEAAGSPP EEGGCTEGTP AKDHRAGRGH QVHKSWPLSI SDSDSGLDPG PGAGDFKKFE
RTSSSGTMSS TEELVDPDGG AGASAFEQAD LNGMTPELPV AVPSGPFRHE GLSKAARTHR
LRKLRTPAKC RECNSYVYFQ GAECEECCLA CHKKCLETLA IQCGHKKLQG RLQLFGQDFS
HAARSAPDGV PFIVKKCVCE IERRALRTKG IYRVNGVKTR VEKLCQAFEN GKELVELSQA
SPHDISNVLK LYLRQLPEPL ISFRLYHELV GLAKDSLKAE AEAKAASRGR QDGSESEAVA
VALAGRLREL LRDLPPENRA SLQYLLRHLR RIVEVEQDNK MTPGNLGIVF GPTLLRPRPT
EATVSLSSLV DYPHQARVIE TLIVHYGLVF EEEPEETPGG QDESSNQRAE VVVQVPYLEA
GEAVVYPLQE AAADGCRESR VVSNDSDSDL EEASELLSSS EASALGHLSF LEQQQSEASL
EVASGSHSGS EEQLEATARE DGDGDEDGPA QQLSGFNTNQ SNNVLQAPLP PMRLRGGRMT
LGSCRERQPE FV*

mutated AA sequence

MSRGQRVLKG LLGWVCTWTW AWRARLGARG CGLHVLCPRD LPLPPEELPR KDGADAVFPG
PSLEPPAGSS GVKATGTLKR PTSLSRHASA AGFPLSGAAS WTLGRSHRSP LTAASPGELP
TEGAGPDVVE DISHLLADVA RFAEGLEKLK ECVLRDDLLE ARRPRAHECL GEALRVMHQI
ISKYPLLNTV ETLTAAGTLI AKVKAFHYES NNDLEKQEFE KALETIAVAF SSTVSEFLMG
EVDSSTLLAV PPGDSSQSME SLYGPGSEGT PPSLDDCDAG CLPAEEVDVL LQRCEGGVDA
ALLYAKNMAK YMKDLISYLE KRTTLEMEFA KGLQKIAHNC RQSVMQEPHM PLLSIYSLAL
EQDLEFGHSM VQAVGTLQTQ TFMQPLTLRR LEHEKRRKEI KEAWHRAQRK LQEAESNLRK
AKQGYVQRCE DHDKARFLVA KAEEEQAGSA PGAGSTATKT LDKRRRLEEE AKNKAEEAMA
TYRTCVADAK TQKQELEDTK VTALRQIQEV IRQSDQTIKS ATISYYQMMH MQTAPLPVHF
QMLCESSKLY DPGQQYASHV RQLQRDQEPD VHYDFEPHVS ANAWSPVMRA RKSSFNVSDV
ARPEAAGSPP EEGGCTEGTP AKDHRAGRGH QVHKSWPLSI SDSDSGLDPG PGAGDFKKFE
RTSSSGTMSS TEELVDPDGG AGASAFEQAD LNGMTPELPV AVPSGPFRHE GLSKAARTHR
LRKLRTPAKC RECNSYVYFQ GAECEECCLA CHKKCLETLA IQCGHKKLQG RLQLFGQDFS
HAARSAPDGV PFIVKKCVCE IERRALRTKG IYRVNGVKTR VEKLCQAFEN GKELVELSQA
SPHDISNVLK LYLRQLPEPL ISFRLYHELV GLAKDSLKAE AEAKAASRGR QDGSESEAVA
VALAGRLREL LRDLPPENRA SLQYLLRHLR RIVEVEQDNK MTPGNLGIVF GPTLLRPRPT
EATVSLSSLV DYPHQARVIE TLIVHYGLVF EEEPEETPGG QDESSNQRAE VVVQVPYLEA
GEAVVYPLQE AAADGCRESR VVSNDSDSDL EEASELLSSS EASALGHLSF LEQQQSEASL
EVASGSHSGS EEQLEATARE DGDGDEDGPA QQLSGFNTNQ SNNVLQAPLP PMRLRGGRMT
LGSCRERQPE FV*

speed

0.51 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: 0.999999999991695 (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)

chr19:1074000A>TN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP45

Ensembl transcript ID

ENST00000313093

Genbank transcript ID

NM_001258328

UniProt peptide

Q92619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.777A>T
cDNA.1008A>T
g.8079A>T

AA changes

E259D Score: 45 explain score(s)

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

259

frameshift

known variant

Reference ID: rs2074442

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1541	807	2348
ExAC	26577	-20387	6190

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.043	0.086
	-0.718	0.027
(flanking)	1.108	0.042

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	8071	wt: 0.53 / mu: 0.66	wt: CTCCCAGCCTGGAAG mu: CTCCCAGCCTGGATG	CCCA\|gcct

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

259

mutated

all conserved

259

Ptroglodytes

all conserved

ENSPTRG00000010180

259

Mmulatta

all conserved

ENSMMUG00000015301

259

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035697

269

Ggallus

not conserved

ENSGALG00000002559

189

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062049

284

Dmelanogaster

no homologue

Celegans

not conserved

ZK669.1

185

Xtropicalis

all identical

ENSXETG00000003287

274

GGL

protein features

start (aa)	end (aa)	feature	details
305	305	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
376	412	COILED	Potential.	might get lost (downstream of altered splice site)
440	499	COILED	Potential.	might get lost (downstream of altered splice site)
569	569	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
578	578	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
619	619	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
702	747	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
761	974	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)
1027	1027	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1030	1030	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1032	1032	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3411 / 3411

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

1137 / 1137

position of stopcodon in wt / mu cDNA

3642 / 3642

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

232 / 232

chromosome

strand

last intron/exon boundary

3296

theoretical NMD boundary in CDS

3014

length of CDS

3411

coding sequence (CDS) position

777

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

1008

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

8079

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

1074000

original gDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGTAAGCC

altered gDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGTAAGCC

original cDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGCTGCCT

altered cDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGCTGCCT

wildtype AA sequence

MFSRKKRELM KTPSISKKNR AGSPSPQPSG ELPRKDGADA VFPGPSLEPP AGSSGVKATG
TLKRPTSLSR HASAAGFPLS GAASWTLGRS HRSPLTAASP GELPTEGAGP DVVEDISHLL
ADVARFAEGL EKLKECVLRD DLLEARRPRA HECLGEALRV MHQIISKYPL LNTVETLTAA
GTLIAKVKAF HYESNNDLEK QEFEKALETI AVAFSSTVSE FLMGEVDSST LLAVPPGDSS
QSMESLYGPG SEGTPPSLED CDAGCLPAEE VDVLLQRCEG GVDAALLYAK NMAKYMKDLI
SYLEKRTTLE MEFAKGLQKI AHNCRQSVMQ EPHMPLLSIY SLALEQDLEF GHSMVQAVGT
LQTQTFMQPL TLRRLEHEKR RKEIKEAWHR AQRKLQEAES NLRKAKQGYV QRCEDHDKAR
FLVAKAEEEQ AGSAPGAGST ATKTLDKRRR LEEEAKNKAE EAMATYRTCV ADAKTQKQEL
EDTKVTALRQ IQEVIRQSDQ TIKSATISYY QMMHMQTAPL PVHFQMLCES SKLYDPGQQY
ASHVRQLQRD QEPDVHYDFE PHVSANAWSP VMRARKSSFN VSDVARPEAA GSPPEEGGCT
EGTPAKDHRA GRGHQVHKSW PLSISDSDSG LDPGPGAGDF KKFERTSSSG TMSSTEELVD
PDGGAGASAF EQADLNGMTP ELPVAVPSGP FRHEGLSKAA RTHRLRKLRT PAKCRECNSY
VYFQGAECEE CCLACHKKCL ETLAIQCGHK KLQGRLQLFG QDFSHAARSA PDGVPFIVKK
CVCEIERRAL RTKGIYRVNG VKTRVEKLCQ AFENGKELVE LSQASPHDIS NVLKLYLRQL
PEPLISFRLY HELVGLAKDS LKAEAEAKAA SRGRQDGSES EAVAVALAGR LRELLRDLPP
ENRASLQYLL RHLRRIVEVE QDNKMTPGNL GIVFGPTLLR PRPTEATVSL SSLVDYPHQA
RVIETLIVHY GLVFEEEPEE TPGGQDESSN QRAEVVVQVP YLEAGEAVVY PLQEAAADGC
RESRVVSNDS DSDLEEASEL LSSSEASALG HLSFLEQQQS EASLEVASGS HSGSEEQLEA
TAREDGDGDE DGPAQQLSGF NTNQSNNVLQ APLPPMRLRG GRMTLGSCRE RQPEFV*

mutated AA sequence

MFSRKKRELM KTPSISKKNR AGSPSPQPSG ELPRKDGADA VFPGPSLEPP AGSSGVKATG
TLKRPTSLSR HASAAGFPLS GAASWTLGRS HRSPLTAASP GELPTEGAGP DVVEDISHLL
ADVARFAEGL EKLKECVLRD DLLEARRPRA HECLGEALRV MHQIISKYPL LNTVETLTAA
GTLIAKVKAF HYESNNDLEK QEFEKALETI AVAFSSTVSE FLMGEVDSST LLAVPPGDSS
QSMESLYGPG SEGTPPSLDD CDAGCLPAEE VDVLLQRCEG GVDAALLYAK NMAKYMKDLI
SYLEKRTTLE MEFAKGLQKI AHNCRQSVMQ EPHMPLLSIY SLALEQDLEF GHSMVQAVGT
LQTQTFMQPL TLRRLEHEKR RKEIKEAWHR AQRKLQEAES NLRKAKQGYV QRCEDHDKAR
FLVAKAEEEQ AGSAPGAGST ATKTLDKRRR LEEEAKNKAE EAMATYRTCV ADAKTQKQEL
EDTKVTALRQ IQEVIRQSDQ TIKSATISYY QMMHMQTAPL PVHFQMLCES SKLYDPGQQY
ASHVRQLQRD QEPDVHYDFE PHVSANAWSP VMRARKSSFN VSDVARPEAA GSPPEEGGCT
EGTPAKDHRA GRGHQVHKSW PLSISDSDSG LDPGPGAGDF KKFERTSSSG TMSSTEELVD
PDGGAGASAF EQADLNGMTP ELPVAVPSGP FRHEGLSKAA RTHRLRKLRT PAKCRECNSY
VYFQGAECEE CCLACHKKCL ETLAIQCGHK KLQGRLQLFG QDFSHAARSA PDGVPFIVKK
CVCEIERRAL RTKGIYRVNG VKTRVEKLCQ AFENGKELVE LSQASPHDIS NVLKLYLRQL
PEPLISFRLY HELVGLAKDS LKAEAEAKAA SRGRQDGSES EAVAVALAGR LRELLRDLPP
ENRASLQYLL RHLRRIVEVE QDNKMTPGNL GIVFGPTLLR PRPTEATVSL SSLVDYPHQA
RVIETLIVHY GLVFEEEPEE TPGGQDESSN QRAEVVVQVP YLEAGEAVVY PLQEAAADGC
RESRVVSNDS DSDLEEASEL LSSSEASALG HLSFLEQQQS EASLEVASGS HSGSEEQLEA
TAREDGDGDE DGPAQQLSGF NTNQSNNVLQ APLPPMRLRG GRMTLGSCRE RQPEFV*

speed

0.51 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999991695 (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)

chr19:1074000A>TN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP45

Ensembl transcript ID

ENST00000590214

Genbank transcript ID

NM_001258328

UniProt peptide

Q92619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.858A>T
cDNA.937A>T
g.8079A>T

AA changes

E286D Score: 45 explain score(s)

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

286

frameshift

known variant

Reference ID: rs2074442

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1541	807	2348
ExAC	26577	-20387	6190

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.043	0.086
	-0.718	0.027
(flanking)	1.108	0.042

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	8071	wt: 0.53 / mu: 0.66	wt: CTCCCAGCCTGGAAG mu: CTCCCAGCCTGGATG	CCCA\|gcct

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

286

mutated

all conserved

286

Ptroglodytes

all conserved

ENSPTRG00000010180

259

Mmulatta

all conserved

ENSMMUG00000015301

259

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035697

269

Ggallus

not conserved

ENSGALG00000002559

189

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062049

284

Dmelanogaster

no homologue

Celegans

not conserved

ZK669.1

185

Xtropicalis

all identical

ENSXETG00000003287

274

GGL

protein features

start (aa)	end (aa)	feature	details
305	305	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
376	412	COILED	Potential.	might get lost (downstream of altered splice site)
440	499	COILED	Potential.	might get lost (downstream of altered splice site)
569	569	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
578	578	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
619	619	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
702	747	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
761	974	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)
1027	1027	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1030	1030	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1032	1032	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3492 / 3492

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

1164 / 1164

position of stopcodon in wt / mu cDNA

3571 / 3571

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

80 / 80

chromosome

strand

last intron/exon boundary

3225

theoretical NMD boundary in CDS

3095

length of CDS

3492

coding sequence (CDS) position

858

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

937

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

8079

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

1074000

original gDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGTAAGCC

altered gDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGTAAGCC

original cDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGCTGCCT

altered cDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGCTGCCT

wildtype AA sequence

MFSRKKRELM KTPSISKKNR AGSPSPQPSG PHFISGETEA VSRPENPFNE LPSDLPKELP
RKDGADAVFP GPSLEPPAGS SGVKATGTLK RPTSLSRHAS AAGFPLSGAA SWTLGRSHRS
PLTAASPGEL PTEGAGPDVV EDISHLLADV ARFAEGLEKL KECVLRDDLL EARRPRAHEC
LGEALRVMHQ IISKYPLLNT VETLTAAGTL IAKVKAFHYE SNNDLEKQEF EKALETIAVA
FSSTVSEFLM GEVDSSTLLA VPPGDSSQSM ESLYGPGSEG TPPSLEDCDA GCLPAEEVDV
LLQRCEGGVD AALLYAKNMA KYMKDLISYL EKRTTLEMEF AKGLQKIAHN CRQSVMQEPH
MPLLSIYSLA LEQDLEFGHS MVQAVGTLQT QTFMQPLTLR RLEHEKRRKE IKEAWHRAQR
KLQEAESNLR KAKQGYVQRC EDHDKARFLV AKAEEEQAGS APGAGSTATK TLDKRRRLEE
EAKNKAEEAM ATYRTCVADA KTQKQELEDT KVTALRQIQE VIRQSDQTIK SATISYYQMM
HMQTAPLPVH FQMLCESSKL YDPGQQYASH VRQLQRDQEP DVHYDFEPHV SANAWSPVMR
ARKSSFNVSD VARPEAAGSP PEEGGCTEGT PAKDHRAGRG HQVHKSWPLS ISDSDSGLDP
GPGAGDFKKF ERTSSSGTMS STEELVDPDG GAGASAFEQA DLNGMTPELP VAVPSGPFRH
EGLSKAARTH RLRKLRTPAK CRECNSYVYF QGAECEECCL ACHKKCLETL AIQCGHKKLQ
GRLQLFGQDF SHAARSAPDG VPFIVKKCVC EIERRALRTK GIYRVNGVKT RVEKLCQAFE
NGKELVELSQ ASPHDISNVL KLYLRQLPEP LISFRLYHEL VGLAKDSLKA EAEAKAASRG
RQDGSESEAV AVALAGRLRE LLRDLPPENR ASLQYLLRHL RRIVEVEQDN KMTPGNLGIV
FGPTLLRPRP TEATVSLSSL VDYPHQARVI ETLIVHYGLV FEEEPEETPG GQDESSNQRA
EVVVQVPYLE AGEAVVYPLQ EAAADGCRES RVVSNDSDSD LEEASELLSS SEASALGHLS
FLEQQQSEAS LEVASGSHSG SEEQLEATAR EDGDGDEDGP AQQLSGFNTN QSNNVLQAPL
PPMRLRGGRM TLGSCRERQP EFV*

mutated AA sequence

MFSRKKRELM KTPSISKKNR AGSPSPQPSG PHFISGETEA VSRPENPFNE LPSDLPKELP
RKDGADAVFP GPSLEPPAGS SGVKATGTLK RPTSLSRHAS AAGFPLSGAA SWTLGRSHRS
PLTAASPGEL PTEGAGPDVV EDISHLLADV ARFAEGLEKL KECVLRDDLL EARRPRAHEC
LGEALRVMHQ IISKYPLLNT VETLTAAGTL IAKVKAFHYE SNNDLEKQEF EKALETIAVA
FSSTVSEFLM GEVDSSTLLA VPPGDSSQSM ESLYGPGSEG TPPSLDDCDA GCLPAEEVDV
LLQRCEGGVD AALLYAKNMA KYMKDLISYL EKRTTLEMEF AKGLQKIAHN CRQSVMQEPH
MPLLSIYSLA LEQDLEFGHS MVQAVGTLQT QTFMQPLTLR RLEHEKRRKE IKEAWHRAQR
KLQEAESNLR KAKQGYVQRC EDHDKARFLV AKAEEEQAGS APGAGSTATK TLDKRRRLEE
EAKNKAEEAM ATYRTCVADA KTQKQELEDT KVTALRQIQE VIRQSDQTIK SATISYYQMM
HMQTAPLPVH FQMLCESSKL YDPGQQYASH VRQLQRDQEP DVHYDFEPHV SANAWSPVMR
ARKSSFNVSD VARPEAAGSP PEEGGCTEGT PAKDHRAGRG HQVHKSWPLS ISDSDSGLDP
GPGAGDFKKF ERTSSSGTMS STEELVDPDG GAGASAFEQA DLNGMTPELP VAVPSGPFRH
EGLSKAARTH RLRKLRTPAK CRECNSYVYF QGAECEECCL ACHKKCLETL AIQCGHKKLQ
GRLQLFGQDF SHAARSAPDG VPFIVKKCVC EIERRALRTK GIYRVNGVKT RVEKLCQAFE
NGKELVELSQ ASPHDISNVL KLYLRQLPEP LISFRLYHEL VGLAKDSLKA EAEAKAASRG
RQDGSESEAV AVALAGRLRE LLRDLPPENR ASLQYLLRHL RRIVEVEQDN KMTPGNLGIV
FGPTLLRPRP TEATVSLSSL VDYPHQARVI ETLIVHYGLV FEEEPEETPG GQDESSNQRA
EVVVQVPYLE AGEAVVYPLQ EAAADGCRES RVVSNDSDSD LEEASELLSS SEASALGHLS
FLEQQQSEAS LEVASGSHSG SEEQLEATAR EDGDGDEDGP AQQLSGFNTN QSNNVLQAPL
PPMRLRGGRM TLGSCRERQP EFV*

speed

0.62 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999991695 (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)

chr19:1074000A>TN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP45

Ensembl transcript ID

ENST00000586866

Genbank transcript ID

N/A

UniProt peptide

Q92619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.789A>T
cDNA.864A>T
g.8079A>T

AA changes

E263D Score: 45 explain score(s)

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

263

frameshift

known variant

Reference ID: rs2074442

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1541	807	2348
ExAC	26577	-20387	6190

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.043	0.086
	-0.718	0.027
(flanking)	1.108	0.042

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	8071	wt: 0.53 / mu: 0.66	wt: CTCCCAGCCTGGAAG mu: CTCCCAGCCTGGATG	CCCA\|gcct

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

263

mutated

all conserved

263

Ptroglodytes

all conserved

ENSPTRG00000010180

259

Mmulatta

all conserved

ENSMMUG00000015301

259

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035697

269

Ggallus

not conserved

ENSGALG00000002559

189

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062049

284

Dmelanogaster

no homologue

Celegans

not conserved

ZK669.1

185

Xtropicalis

all identical

ENSXETG00000003287

274

GGL

protein features

start (aa)	end (aa)	feature	details
305	305	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
376	412	COILED	Potential.	might get lost (downstream of altered splice site)
440	499	COILED	Potential.	might get lost (downstream of altered splice site)
569	569	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
578	578	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
619	619	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
702	747	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
761	974	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)
1027	1027	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1030	1030	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1032	1032	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3423 / 3423

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

1141 / 1141

position of stopcodon in wt / mu cDNA

3498 / 3498

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

76 / 76

chromosome

strand

last intron/exon boundary

3152

theoretical NMD boundary in CDS

3026

length of CDS

3423

coding sequence (CDS) position

789

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

864

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

8079

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

1074000

original gDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGTAAGCC

altered gDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGTAAGCC

original cDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGCTGCCT

altered cDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGCTGCCT

wildtype AA sequence

MLGRRLGARA SYSPYRAGRQ GPQQRGRDPG IQLTELPRKD GADAVFPGPS LEPPAGSSGV
KATGTLKRPT SLSRHASAAG FPLSGAASWT LGRSHRSPLT AASPGELPTE GAGPDVVEDI
SHLLADVARF AEGLEKLKEC VLRDDLLEAR RPRAHECLGE ALRVMHQIIS KYPLLNTVET
LTAAGTLIAK VKAFHYESNN DLEKQEFEKA LETIAVAFSS TVSEFLMGEV DSSTLLAVPP
GDSSQSMESL YGPGSEGTPP SLEDCDAGCL PAEEVDVLLQ RCEGGVDAAL LYAKNMAKYM
KDLISYLEKR TTLEMEFAKG LQKIAHNCRQ SVMQEPHMPL LSIYSLALEQ DLEFGHSMVQ
AVGTLQTQTF MQPLTLRRLE HEKRRKEIKE AWHRAQRKLQ EAESNLRKAK QGYVQRCEDH
DKARFLVAKA EEEQAGSAPG AGSTATKTLD KRRRLEEEAK NKAEEAMATY RTCVADAKTQ
KQELEDTKVT ALRQIQEVIR QSDQTIKSAT ISYYQMMHMQ TAPLPVHFQM LCESSKLYDP
GQQYASHVRQ LQRDQEPDVH YDFEPHVSAN AWSPVMRARK SSFNVSDVAR PEAAGSPPEE
GGCTEGTPAK DHRAGRGHQV HKSWPLSISD SDSGLDPGPG AGDFKKFERT SSSGTMSSTE
ELVDPDGGAG ASAFEQADLN GMTPELPVAV PSGPFRHEGL SKAARTHRLR KLRTPAKCRE
CNSYVYFQGA ECEECCLACH KKCLETLAIQ CGHKKLQGRL QLFGQDFSHA ARSAPDGVPF
IVKKCVCEIE RRALRTKGIY RVNGVKTRVE KLCQAFENGK ELVELSQASP HDISNVLKLY
LRQLPEPLIS FRLYHELVGL AKDSLKAEAE AKAASRGRQD GSESEAVAVA LAGRLRELLR
DLPPENRASL QYLLRHLRRI VEVEQDNKMT PGNLGIVFGP TLLRPRPTEA TVSLSSLVDY
PHQARVIETL IVHYGLVFEE EPEETPGGQD ESSNQRAEVV VQVPYLEAGE AVVYPLQEAA
ADGCRESRVV SNDSDSDLEE ASELLSSSEA SALGHLSFLE QQQSEASLEV ASGSHSGSEE
QLEATAREDG DGDEDGPAQQ LSGFNTNQSN NVLQAPLPPM RLRGGRMTLG SCRERQPEFV
*

mutated AA sequence

MLGRRLGARA SYSPYRAGRQ GPQQRGRDPG IQLTELPRKD GADAVFPGPS LEPPAGSSGV
KATGTLKRPT SLSRHASAAG FPLSGAASWT LGRSHRSPLT AASPGELPTE GAGPDVVEDI
SHLLADVARF AEGLEKLKEC VLRDDLLEAR RPRAHECLGE ALRVMHQIIS KYPLLNTVET
LTAAGTLIAK VKAFHYESNN DLEKQEFEKA LETIAVAFSS TVSEFLMGEV DSSTLLAVPP
GDSSQSMESL YGPGSEGTPP SLDDCDAGCL PAEEVDVLLQ RCEGGVDAAL LYAKNMAKYM
KDLISYLEKR TTLEMEFAKG LQKIAHNCRQ SVMQEPHMPL LSIYSLALEQ DLEFGHSMVQ
AVGTLQTQTF MQPLTLRRLE HEKRRKEIKE AWHRAQRKLQ EAESNLRKAK QGYVQRCEDH
DKARFLVAKA EEEQAGSAPG AGSTATKTLD KRRRLEEEAK NKAEEAMATY RTCVADAKTQ
KQELEDTKVT ALRQIQEVIR QSDQTIKSAT ISYYQMMHMQ TAPLPVHFQM LCESSKLYDP
GQQYASHVRQ LQRDQEPDVH YDFEPHVSAN AWSPVMRARK SSFNVSDVAR PEAAGSPPEE
GGCTEGTPAK DHRAGRGHQV HKSWPLSISD SDSGLDPGPG AGDFKKFERT SSSGTMSSTE
ELVDPDGGAG ASAFEQADLN GMTPELPVAV PSGPFRHEGL SKAARTHRLR KLRTPAKCRE
CNSYVYFQGA ECEECCLACH KKCLETLAIQ CGHKKLQGRL QLFGQDFSHA ARSAPDGVPF
IVKKCVCEIE RRALRTKGIY RVNGVKTRVE KLCQAFENGK ELVELSQASP HDISNVLKLY
LRQLPEPLIS FRLYHELVGL AKDSLKAEAE AKAASRGRQD GSESEAVAVA LAGRLRELLR
DLPPENRASL QYLLRHLRRI VEVEQDNKMT PGNLGIVFGP TLLRPRPTEA TVSLSSLVDY
PHQARVIETL IVHYGLVFEE EPEETPGGQD ESSNQRAEVV VQVPYLEAGE AVVYPLQEAA
ADGCRESRVV SNDSDSDLEE ASELLSSSEA SALGHLSFLE QQQSEASLEV ASGSHSGSEE
QLEATAREDG DGDEDGPAQQ LSGFNTNQSN NVLQAPLPPM RLRGGRMTLG SCRERQPEFV
*

speed

0.60 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999975144 (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)

chr19:1074000A>TN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP45

Ensembl transcript ID

ENST00000543365

Genbank transcript ID

N/A

UniProt peptide

Q92619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.426A>T
cDNA.494A>T
g.8079A>T

AA changes

E142D Score: 45 explain score(s)

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

142

frameshift

known variant

Reference ID: rs2074442

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1541	807	2348
ExAC	26577	-20387	6190

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.043	0.086
	-0.718	0.027
(flanking)	1.108	0.042

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	8071	wt: 0.53 / mu: 0.66	wt: CTCCCAGCCTGGAAG mu: CTCCCAGCCTGGATG	CCCA\|gcct

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

142

mutated

all conserved

142

Ptroglodytes

all conserved

ENSPTRG00000010180

259

Mmulatta

all conserved

ENSMMUG00000015301

259

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035697

269

Ggallus

no alignment

ENSGALG00000002559

n/a

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062049

284

Dmelanogaster

no homologue

Celegans

not conserved

ZK669.1

185

Xtropicalis

all identical

ENSXETG00000003287

276

protein features

start (aa)	end (aa)	feature	details
137	145	PEPTIDE	Minor histocompatibility antigen HA-1. /FTId=PRO_0000330313.	lost
305	305	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
376	412	COILED	Potential.	might get lost (downstream of altered splice site)
440	499	COILED	Potential.	might get lost (downstream of altered splice site)
569	569	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
578	578	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
619	619	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
702	747	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
761	974	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)
1027	1027	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1030	1030	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1032	1032	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3060 / 3060

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

1020 / 1020

position of stopcodon in wt / mu cDNA

3128 / 3128

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

69 / 69

chromosome

strand

last intron/exon boundary

2782

theoretical NMD boundary in CDS

2663

length of CDS

3060

coding sequence (CDS) position

426

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

494

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

8079

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

1074000

original gDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGTAAGCC

altered gDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGTAAGCC

original cDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGCTGCCT

altered cDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGCTGCCT

wildtype AA sequence

MCICGTAHPV LDEGPVRCRA GPRDLLEARR PRAHECLGEA LRVMHQIISK YPLLNTVETL
TAAGTLIAKV KAFHYESNND LEKQEFEKAL ETIAVAFSST VSEFLMGEVD SSTLLAVPPG
DSSQSMESLY GPGSEGTPPS LEDCDAGCLP AEEVDVLLQR CEGGVDAALL YAKNMAKYMK
DLISYLEKRT TLEMEFAKGL QKIAHNCRQS VMQEPHMPLL SIYSLALEQD LEFGHSMVQA
VGTLQTQTFM QPLTLRRLEH EKRRKEIKEA WHRAQRKLQE AESNLRKAKQ GYVQRCEDHD
KARFLVAKAE EEQAGSAPGA GSTATKTLDK RRRLEEEAKN KAEEAMATYR TCVADAKTQK
QELEDTKVTA LRQIQEVIRQ SDQTIKSATI SYYQMMHMQT APLPVHFQML CESSKLYDPG
QQYASHVRQL QRDQEPDVHY DFEPHVSANA WSPVMRARKS SFNVSDVARP EAAGSPPEEG
GCTEGTPAKD HRAGRGHQVH KSWPLSISDS DSGLDPGPGA GDFKKFERTS SSGTMSSTEE
LVDPDGGAGA SAFEQADLNG MTPELPVAVP SGPFRHEGLS KAARTHRLRK LRTPAKCREC
NSYVYFQGAE CEECCLACHK KCLETLAIQC GHKKLQGRLQ LFGQDFSHAA RSAPDGVPFI
VKKCVCEIER RALRTKGIYR VNGVKTRVEK LCQAFENGKE LVELSQASPH DISNVLKLYL
RQLPEPLISF RLYHELVGLA KDSLKAEAEA KAASRGRQDG SESEAVAVAL AGRLRELLRD
LPPENRASLQ YLLRHLRRIV EVEQDNKMTP GNLGIVFGPT LLRPRPTEAT VSLSSLVDYP
HQARVIETLI VHYGLVFEEE PEETPGGQDE SSNQRAEVVV QVPYLEAGEA VVYPLQEAAA
DGCRESRVVS NDSDSDLEEA SELLSSSEAS ALGHLSFLEQ QQSEASLEVA SGSHSGSEEQ
LEATAREDGD GDEDGPAQQL SGFNTNQSNN VLQAPLPPMR LRGGRMTLGS CRERQPEFV*

mutated AA sequence

MCICGTAHPV LDEGPVRCRA GPRDLLEARR PRAHECLGEA LRVMHQIISK YPLLNTVETL
TAAGTLIAKV KAFHYESNND LEKQEFEKAL ETIAVAFSST VSEFLMGEVD SSTLLAVPPG
DSSQSMESLY GPGSEGTPPS LDDCDAGCLP AEEVDVLLQR CEGGVDAALL YAKNMAKYMK
DLISYLEKRT TLEMEFAKGL QKIAHNCRQS VMQEPHMPLL SIYSLALEQD LEFGHSMVQA
VGTLQTQTFM QPLTLRRLEH EKRRKEIKEA WHRAQRKLQE AESNLRKAKQ GYVQRCEDHD
KARFLVAKAE EEQAGSAPGA GSTATKTLDK RRRLEEEAKN KAEEAMATYR TCVADAKTQK
QELEDTKVTA LRQIQEVIRQ SDQTIKSATI SYYQMMHMQT APLPVHFQML CESSKLYDPG
QQYASHVRQL QRDQEPDVHY DFEPHVSANA WSPVMRARKS SFNVSDVARP EAAGSPPEEG
GCTEGTPAKD HRAGRGHQVH KSWPLSISDS DSGLDPGPGA GDFKKFERTS SSGTMSSTEE
LVDPDGGAGA SAFEQADLNG MTPELPVAVP SGPFRHEGLS KAARTHRLRK LRTPAKCREC
NSYVYFQGAE CEECCLACHK KCLETLAIQC GHKKLQGRLQ LFGQDFSHAA RSAPDGVPFI
VKKCVCEIER RALRTKGIYR VNGVKTRVEK LCQAFENGKE LVELSQASPH DISNVLKLYL
RQLPEPLISF RLYHELVGLA KDSLKAEAEA KAASRGRQDG SESEAVAVAL AGRLRELLRD
LPPENRASLQ YLLRHLRRIV EVEQDNKMTP GNLGIVFGPT LLRPRPTEAT VSLSSLVDYP
HQARVIETLI VHYGLVFEEE PEETPGGQDE SSNQRAEVVV QVPYLEAGEA VVYPLQEAAA
DGCRESRVVS NDSDSDLEEA SELLSSSEAS ALGHLSFLEQ QQSEASLEVA SGSHSGSEEQ
LEATAREDGD GDEDGPAQQL SGFNTNQSNN VLQAPLPPMR LRGGRMTLGS CRERQPEFV*

speed

0.42 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999956039 (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)

chr19:1074000A>TN/A show variant in all transcripts IGV

HGNC symbol

ARHGAP45

Ensembl transcript ID

ENST00000536472

Genbank transcript ID

N/A

UniProt peptide

Q92619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.297A>T
cDNA.535A>T
g.8079A>T

AA changes

E99D Score: 45 explain score(s)

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

frameshift

known variant

Reference ID: rs2074442

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1541	807	2348
ExAC	26577	-20387	6190

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.043	0.086
	-0.718	0.027
(flanking)	1.108	0.042

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	8071	wt: 0.53 / mu: 0.66	wt: CTCCCAGCCTGGAAG mu: CTCCCAGCCTGGATG	CCCA\|gcct

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000010180

259

Mmulatta

all conserved

ENSMMUG00000015301

259

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035697

269

Ggallus

no alignment

ENSGALG00000002559

n/a

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062049

284

Dmelanogaster

no homologue

Celegans

not conserved

ZK669.1

185

Xtropicalis

all identical

ENSXETG00000003287

274

GGL

protein features

start (aa)	end (aa)	feature	details
99	99	MOD_RES	Phosphoserine.	lost
137	145	PEPTIDE	Minor histocompatibility antigen HA-1. /FTId=PRO_0000330313.	might get lost (downstream of altered splice site)
305	305	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
376	412	COILED	Potential.	might get lost (downstream of altered splice site)
440	499	COILED	Potential.	might get lost (downstream of altered splice site)
569	569	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
578	578	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
619	619	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
702	747	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
761	974	DOMAIN	Rho-GAP.	might get lost (downstream of altered splice site)
1027	1027	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1030	1030	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1032	1032	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3015 / 3015

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

1005 / 1005

position of stopcodon in wt / mu cDNA

3253 / 3253

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

239 / 239

chromosome

strand

last intron/exon boundary

2907

theoretical NMD boundary in CDS

2618

length of CDS

3015

coding sequence (CDS) position

297

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

535

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

8079

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

1074000

original gDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGTAAGCC

altered gDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGTAAGCC

original cDNA sequence snippet

GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGCTGCCT

altered cDNA sequence snippet

GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGCTGCCT

wildtype AA sequence

MHQIISKYPL LNTVETLTAA GTLIAKVKAF HYESNNDLEK QEFEKALETI AVAFSSTVSE
FLMGEVDSST LLAVPPGDSS QSMESLYGPG SEGTPPSLED CDAGCLPAEE VDVLLQRCEG
GVDAALLYAK NMAKYMKDLI SYLEKRTTLE MEFAKGLQKI AHNCRQSVMQ EPHMPLLSIY
SLALEQDLEF GHSMVQAVGT LQTQTFMQPL TLRRLEHEKR RKEIKEAWHR AQRKLQEAES
NLRKAKQGYV QRCEDHDKAR FLVAKAEEEQ AGSAPGAGST ATKTLDKRRR LEEEAKNKAE
EAMATYRTCV ADAKTQKQEL EDTKVTALRQ IQEVIRQSDQ TIKSATISYY QMMHMQTAPL
PVHFQMLCES SKLYDPGQQY ASHVRQLQRD QEPDVHYDFE PHVSANAWSP VMRARKSSFN
VSDVARPEAA GSPPEEGGCT EGTPAKDHRG ECPAGPRGGR WLPATHPGPS PETPLSPAGR
GHQVHKSWPL SISDSDSGLD PGPGAGDFKK FERTSSSGTM SSTEELVDPD GGAGASAFEQ
ADLNGMTPEL PVAVPSGPFR HEGLSKAART HRLRKLRTPA KCRECNSYVY FQGAECEECC
LACHKKCLET LAIQCGHKKL QGRLQLFGQD FSHAARSAPD GVPFIVKKCV CEIERRALRT
KGIYRVNGVK TRVEKLCQAF ENGKELVELS QASPHDISNV LKLYLRQLPE PLISFRLYHE
LVGLAKDSLK AEAEAKAASR GRQDGSESEA VAVALAGRLR ELLRDLPPEN RASLQYLLRH
LRRIVEVEQD NKMTPGNLGI VFGPTLLRPR PTEATVSLSS LVDYPHQARV IETLIVHYGL
VFEEEPEETP GGQDESSNQR AEVVVQVPYL EAGEAVVYPL QEAAADGCRE SRVVSNDSDS
DLEEASELLS SSEASALGHL SFLEQQQSEA SLEVASGSHS GSEEQLEATA REDGDGDEDG
PAQQLSGFNT NQSNNVLQAP LPPMRLRGGR MTLGSCRERQ PEFV*

mutated AA sequence

MHQIISKYPL LNTVETLTAA GTLIAKVKAF HYESNNDLEK QEFEKALETI AVAFSSTVSE
FLMGEVDSST LLAVPPGDSS QSMESLYGPG SEGTPPSLDD CDAGCLPAEE VDVLLQRCEG
GVDAALLYAK NMAKYMKDLI SYLEKRTTLE MEFAKGLQKI AHNCRQSVMQ EPHMPLLSIY
SLALEQDLEF GHSMVQAVGT LQTQTFMQPL TLRRLEHEKR RKEIKEAWHR AQRKLQEAES
NLRKAKQGYV QRCEDHDKAR FLVAKAEEEQ AGSAPGAGST ATKTLDKRRR LEEEAKNKAE
EAMATYRTCV ADAKTQKQEL EDTKVTALRQ IQEVIRQSDQ TIKSATISYY QMMHMQTAPL
PVHFQMLCES SKLYDPGQQY ASHVRQLQRD QEPDVHYDFE PHVSANAWSP VMRARKSSFN
VSDVARPEAA GSPPEEGGCT EGTPAKDHRG ECPAGPRGGR WLPATHPGPS PETPLSPAGR
GHQVHKSWPL SISDSDSGLD PGPGAGDFKK FERTSSSGTM SSTEELVDPD GGAGASAFEQ
ADLNGMTPEL PVAVPSGPFR HEGLSKAART HRLRKLRTPA KCRECNSYVY FQGAECEECC
LACHKKCLET LAIQCGHKKL QGRLQLFGQD FSHAARSAPD GVPFIVKKCV CEIERRALRT
KGIYRVNGVK TRVEKLCQAF ENGKELVELS QASPHDISNV LKLYLRQLPE PLISFRLYHE
LVGLAKDSLK AEAEAKAASR GRQDGSESEA VAVALAGRLR ELLRDLPPEN RASLQYLLRH
LRRIVEVEQD NKMTPGNLGI VFGPTLLRPR PTEATVSLSS LVDYPHQARV IETLIVHYGL
VFEEEPEETP GGQDESSNQR AEVVVQVPYL EAGEAVVYPL QEAAADGCRE SRVVSNDSDS
DLEEASELLS SSEASALGHL SFLEQQQSEA SLEVASGSHS GSEEQLEATA REDGDGDEDG
PAQQLSGFNT NQSNNVLQAP LPPMRLRGGR MTLGSCRERQ PEFV*

speed

0.59 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

mutation t@sting

Prediction

polymorphism

Problems