MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000318934
Querying Taster for transcript #2: ENST00000262970
MT speed 0 s - this script 3.666388 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ANKRD24	polymorphism_automatic	5.42010880622001e-13	simple_aae		affected		A111T	single base exchange	rs2052191		show file
ANKRD24	polymorphism_automatic	7.31970040135366e-13	simple_aae		affected		A201T	single base exchange	rs2052191		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999458 (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)

chr19:4200156G>AN/A show variant in all transcripts IGV

HGNC symbol

ANKRD24

Ensembl transcript ID

ENST00000318934

Genbank transcript ID

N/A

UniProt peptide

Q8TF21

alteration type

single base exchange

alteration region

CDS

DNA changes

c.331G>A
cDNA.487G>A
g.13890G>A

AA changes

A111T Score: 58 explain score(s)

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

111

frameshift

known variant

Reference ID: rs2052191

database	homozygous (A/A)	heterozygous	allele carriers
1000G	454	1127	1581
ExAC	7649	17469	25118

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.133	0.186
	-0.011	0.074
(flanking)	0.525	0.065

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	13890	0.73	mu: TGAGCACGGACGGGG	AGCA\|cgga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

111

mutated

not conserved

111

Ptroglodytes

not conserved

ENSPTRG00000010297

111

Mmulatta

no alignment

ENSMMUG00000028928

n/a

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000054708

Ggallus

not conserved

ENSGALG00000001235

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062103

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
81	110	REPEAT	ANK 1.	might get lost (downstream of altered splice site)
114	143	REPEAT	ANK 2.	might get lost (downstream of altered splice site)
147	176	REPEAT	ANK 3.	might get lost (downstream of altered splice site)
180	209	REPEAT	ANK 4.	might get lost (downstream of altered splice site)
213	242	REPEAT	ANK 5.	might get lost (downstream of altered splice site)
308	311	COMPBIAS	Poly-Pro.	might get lost (downstream of altered splice site)
320	517	COILED	Potential.	might get lost (downstream of altered splice site)
714	1110	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3441 / 3441

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

1147 / 1147

position of stopcodon in wt / mu cDNA

3597 / 3597

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

157 / 157

chromosome

strand

last intron/exon boundary

3520

theoretical NMD boundary in CDS

3313

length of CDS

3441

coding sequence (CDS) position

331

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

487

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

13890

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

4200156

original gDNA sequence snippet

ATGGCAGCAATGTCATGAGCGCGGACGGGGCAGGTACTGCC

altered gDNA sequence snippet

ATGGCAGCAATGTCATGAGCACGGACGGGGCAGGTACTGCC

original cDNA sequence snippet

ATGGCAGCAATGTCATGAGCGCGGACGGGGCAGGTTACAAT

altered cDNA sequence snippet

ATGGCAGCAATGTCATGAGCACGGACGGGGCAGGTTACAAT

wildtype AA sequence

MKTLRARFKK TELRLSPTDL GSCPPCGPCP IPKPAARGRR QSQDWGKSDE RLLQAVENND
APRVAALIAR KGLVPTKLDP EGKSAFHLAA MRGAASCLEV MIAHGSNVMS ADGAGYNALH
LAAKYGHPQC LKQLLQASCV VDVVDSSGWT ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS
GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ DLQGRTALML ACEGASPETV EVLLQGGAQP
GITDALGQDA AHYGALAGDK LILHLLQEAA QRPSPPSALT EDDSGEASSQ NSMSSHGKQG
APKKRKAPPP PASIPMPDDR DAYEEIVRLR QERGRLLQKI RGLEQHKERR QQESPEASSL
HILERQVQEL QQLLVERQEE KESLGREVES LQSRLSLLEN ERENTSYDVT TLQDEEGELP
DLPGAEVLLS RQLSPSAQEH LASLQEQVAV LTRQNQELME KVQILENFEK DETQMEVEAL
AEVIPLALYD SLRAEFDQLR RQHAEALQAL RQQETREVPR EEGAACGESE VAGATATKNG
PTHMELNGSV APETKVNGAE TIDEEAAGDE TMEARTMEAE ATGAEATGAE ATGAKVTETK
PTGAEVREME TTEEEANMET KPTGAQATDT ETTGVEAMGV EATKTKAEEA EMQAYGVGAG
QAEPPVTGTT NMEATGSRAT GMESTGVSAT GVENPGVEAT VPGISAGPIL HPGAAEASEK
LQVELETRIR GLEEALRQRE REAAAELEAA LGKCEAAEAE AGRLRERVRE AEGSGASGGG
GGDTTQLRAA LEQAREDLRD RDSRLRELEA ASACLDEARA SRLLAEEEAR GLRAELAQRE
EARLEQSREL EVLREQLATA RATGEQQRTA AAELGRARDA AEARVAELPA ACEEARQGLA
ELREASEALR QSVVPASEHR RLQEEALELR GRAASLEQEV VATGKEAARL RAELERERVC
SVALSEHERI VGTLQANVAQ LEGQLEELGR RHEKTSAEVF QVQREALFMK SERHAAEAQL
ATAEQQLRGL RTEAERARQA QSRAQEALDK AKEKDKKITE LSKEVFNLKE ALKEQPAALA
TPEVEALRDQ VKDLQQQLQE AARDHSSVVA LYRSHLLYAI QGQMDEDVQR ILSQILQMQR
LQAQGR*

mutated AA sequence

MKTLRARFKK TELRLSPTDL GSCPPCGPCP IPKPAARGRR QSQDWGKSDE RLLQAVENND
APRVAALIAR KGLVPTKLDP EGKSAFHLAA MRGAASCLEV MIAHGSNVMS TDGAGYNALH
LAAKYGHPQC LKQLLQASCV VDVVDSSGWT ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS
GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ DLQGRTALML ACEGASPETV EVLLQGGAQP
GITDALGQDA AHYGALAGDK LILHLLQEAA QRPSPPSALT EDDSGEASSQ NSMSSHGKQG
APKKRKAPPP PASIPMPDDR DAYEEIVRLR QERGRLLQKI RGLEQHKERR QQESPEASSL
HILERQVQEL QQLLVERQEE KESLGREVES LQSRLSLLEN ERENTSYDVT TLQDEEGELP
DLPGAEVLLS RQLSPSAQEH LASLQEQVAV LTRQNQELME KVQILENFEK DETQMEVEAL
AEVIPLALYD SLRAEFDQLR RQHAEALQAL RQQETREVPR EEGAACGESE VAGATATKNG
PTHMELNGSV APETKVNGAE TIDEEAAGDE TMEARTMEAE ATGAEATGAE ATGAKVTETK
PTGAEVREME TTEEEANMET KPTGAQATDT ETTGVEAMGV EATKTKAEEA EMQAYGVGAG
QAEPPVTGTT NMEATGSRAT GMESTGVSAT GVENPGVEAT VPGISAGPIL HPGAAEASEK
LQVELETRIR GLEEALRQRE REAAAELEAA LGKCEAAEAE AGRLRERVRE AEGSGASGGG
GGDTTQLRAA LEQAREDLRD RDSRLRELEA ASACLDEARA SRLLAEEEAR GLRAELAQRE
EARLEQSREL EVLREQLATA RATGEQQRTA AAELGRARDA AEARVAELPA ACEEARQGLA
ELREASEALR QSVVPASEHR RLQEEALELR GRAASLEQEV VATGKEAARL RAELERERVC
SVALSEHERI VGTLQANVAQ LEGQLEELGR RHEKTSAEVF QVQREALFMK SERHAAEAQL
ATAEQQLRGL RTEAERARQA QSRAQEALDK AKEKDKKITE LSKEVFNLKE ALKEQPAALA
TPEVEALRDQ VKDLQQQLQE AARDHSSVVA LYRSHLLYAI QGQMDEDVQR ILSQILQMQR
LQAQGR*

speed

0.96 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: 0.999999999999268 (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)

chr19:4200156G>AN/A show variant in all transcripts IGV

HGNC symbol

ANKRD24

Ensembl transcript ID

ENST00000262970

Genbank transcript ID

N/A

UniProt peptide

Q8TF21

alteration type

single base exchange

alteration region

CDS

DNA changes

c.601G>A
cDNA.601G>A
g.13890G>A

AA changes

A201T Score: 58 explain score(s)

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

201

frameshift

known variant

Reference ID: rs2052191

database	homozygous (A/A)	heterozygous	allele carriers
1000G	454	1127	1581
ExAC	7649	17469	25118

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.133	0.186
	-0.011	0.074
(flanking)	0.525	0.065

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	13890	0.73	mu: TGAGCACGGACGGGG	AGCA\|cgga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

201

mutated

not conserved

201

Ptroglodytes

not conserved

ENSPTRG00000010297

111

Mmulatta

no alignment

ENSMMUG00000028928

n/a

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000054708

Ggallus

not conserved

ENSGALG00000001235

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062103

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
180	209	REPEAT	ANK 4.	lost
213	242	REPEAT	ANK 5.	might get lost (downstream of altered splice site)
308	311	COMPBIAS	Poly-Pro.	might get lost (downstream of altered splice site)
320	517	COILED	Potential.	might get lost (downstream of altered splice site)
714	1110	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3711 / 3711

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

1237 / 1237

position of stopcodon in wt / mu cDNA

3711 / 3711

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

last intron/exon boundary

3634

theoretical NMD boundary in CDS

3583

length of CDS

3711

coding sequence (CDS) position

601

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

601

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

13890

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

4200156

original gDNA sequence snippet

ATGGCAGCAATGTCATGAGCGCGGACGGGGCAGGTACTGCC

altered gDNA sequence snippet

ATGGCAGCAATGTCATGAGCACGGACGGGGCAGGTACTGCC

original cDNA sequence snippet

ATGGCAGCAATGTCATGAGCGCGGACGGGGCAGGTTACAAT

altered cDNA sequence snippet

ATGGCAGCAATGTCATGAGCACGGACGGGGCAGGTTACAAT

wildtype AA sequence

MQPAACAGEG AGPPAPRPPH PPGDKVRRGR GGAPSLSPQP PAPYLGLPIP SRGGGGWRGG
QGGGGGTREG GTGRAGGAGS SGSAQPRPPA APRGPSRPSG RRLLLEPRAP PAPRAPDAMK
QLCLCAAASF ASQDWGKSDE RLLQAVENND APRVAALIAR KGLVPTKLDP EGKSAFHLAA
MRGAASCLEV MIAHGSNVMS ADGAGYNALH LAAKYGHPQC LKQLLQASCV VDVVDSSGWT
ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ
DLQGRTALML ACEGASPETV EVLLQGGAQP GITDALGQDA AHYGALAGDK LILHLLQEAA
QRPSPPSALT EDDSGEASSQ NSMSSHGKQG APKKRKAPPP PASIPMPDDR DAYEEIVRLR
QERGRLLQKI RGLEQHKERR QQESPEASSL HILERQVQEL QQLLVERQEE KESLGREVES
LQSRLSLLEN ERENTSYDVT TLQDEEGELP DLPGAEVLLS RQLSPSAQEH LASLQEQVAV
LTRQNQELME KVQILENFEK DETQMEVEAL AEVIPLALYD SLRAEFDQLR RQHAEALQAL
RQQETREVPR EEGAACGESE VAGATATKNG PTHMELNGSV APETKVNGAE TIDEEAAGDE
TMEARTMEAE ATGAEATGAE ATGAKVTETK PTGAEVREME TTEEEANMET KPTGAQATDT
ETTGVEAMGV EATKTKAEEA EMQAYGVGAG QAEPPVTGTT NMEATGSRAT GMESTGVSAT
GVENPGVEAT VPGISAGPIL HPGAAEASEK LQVELETRIR GLEEALRQRE REAAAELEAA
LGKCEAAEAE AGRLRERVRE AEGSGASGGG GGDTTQLRAA LEQAREDLRD RDSRLRELEA
ASACLDEARA SRLLAEEEAR GLRAELAQRE EARLEQSREL EVLREQLATA RATGEQQRTA
AAELGRARDA AEARVAELPA ACEEARQGLA ELREASEALR QSVVPASEHR RLQEEALELR
GRAASLEQEV VATGKEAARL RAELERERVC SVALSEHERI VGTLQANVAQ LEGQLEELGR
RHEKTSAEVF QVQREALFMK SERHAAEAQL ATAEQQLRGL RTEAERARQA QSRAQEALDK
AKEKDKKITE LSKEVFNLKE ALKEQPAALA TPEVEALRDQ VKDLQQQLQE AARDHSSVVA
LYRSHLLYAI QGQMDEDVQR ILSQILQMQR LQAQGR*

mutated AA sequence

MQPAACAGEG AGPPAPRPPH PPGDKVRRGR GGAPSLSPQP PAPYLGLPIP SRGGGGWRGG
QGGGGGTREG GTGRAGGAGS SGSAQPRPPA APRGPSRPSG RRLLLEPRAP PAPRAPDAMK
QLCLCAAASF ASQDWGKSDE RLLQAVENND APRVAALIAR KGLVPTKLDP EGKSAFHLAA
MRGAASCLEV MIAHGSNVMS TDGAGYNALH LAAKYGHPQC LKQLLQASCV VDVVDSSGWT
ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ
DLQGRTALML ACEGASPETV EVLLQGGAQP GITDALGQDA AHYGALAGDK LILHLLQEAA
QRPSPPSALT EDDSGEASSQ NSMSSHGKQG APKKRKAPPP PASIPMPDDR DAYEEIVRLR
QERGRLLQKI RGLEQHKERR QQESPEASSL HILERQVQEL QQLLVERQEE KESLGREVES
LQSRLSLLEN ERENTSYDVT TLQDEEGELP DLPGAEVLLS RQLSPSAQEH LASLQEQVAV
LTRQNQELME KVQILENFEK DETQMEVEAL AEVIPLALYD SLRAEFDQLR RQHAEALQAL
RQQETREVPR EEGAACGESE VAGATATKNG PTHMELNGSV APETKVNGAE TIDEEAAGDE
TMEARTMEAE ATGAEATGAE ATGAKVTETK PTGAEVREME TTEEEANMET KPTGAQATDT
ETTGVEAMGV EATKTKAEEA EMQAYGVGAG QAEPPVTGTT NMEATGSRAT GMESTGVSAT
GVENPGVEAT VPGISAGPIL HPGAAEASEK LQVELETRIR GLEEALRQRE REAAAELEAA
LGKCEAAEAE AGRLRERVRE AEGSGASGGG GGDTTQLRAA LEQAREDLRD RDSRLRELEA
ASACLDEARA SRLLAEEEAR GLRAELAQRE EARLEQSREL EVLREQLATA RATGEQQRTA
AAELGRARDA AEARVAELPA ACEEARQGLA ELREASEALR QSVVPASEHR RLQEEALELR
GRAASLEQEV VATGKEAARL RAELERERVC SVALSEHERI VGTLQANVAQ LEGQLEELGR
RHEKTSAEVF QVQREALFMK SERHAAEAQL ATAEQQLRGL RTEAERARQA QSRAQEALDK
AKEKDKKITE LSKEVFNLKE ALKEQPAALA TPEVEALRDQ VKDLQQQLQE AARDHSSVVA
LYRSHLLYAI QGQMDEDVQR ILSQILQMQR LQAQGR*

speed

0.72 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems