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: ENST00000369408
Querying Taster for transcript #2: ENST00000339746
Querying Taster for transcript #3: ENST00000447838
Querying Taster for transcript #4: ENST00000522441
Querying Taster for transcript #5: ENST00000485637
Querying Taster for transcript #6: ENST00000520793
MT speed 0 s - this script 5.454765 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ANKRD6	polymorphism_automatic	9.20184226289589e-05	simple_aae				T233M	single base exchange	rs2273238		show file
ANKRD6	polymorphism_automatic	9.20184226289589e-05	simple_aae				T233M	single base exchange	rs2273238		show file
ANKRD6	polymorphism_automatic	9.20184226289589e-05	simple_aae				T233M	single base exchange	rs2273238		show file
ANKRD6	polymorphism_automatic	9.20184226289589e-05	simple_aae				T233M	single base exchange	rs2273238		show file
ANKRD6	polymorphism_automatic	9.20184226289589e-05	simple_aae				T233M	single base exchange	rs2273238		show file
ANKRD6	polymorphism_automatic	9.20184226289589e-05	simple_aae				T200M	single base exchange	rs2273238		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999907981577371 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:90326360C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD6

Ensembl transcript ID

ENST00000369408

Genbank transcript ID

NM_001242813

UniProt peptide

Q9Y2G4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.698C>T
cDNA.1047C>T
g.183472C>T

AA changes

T233M Score: 81 explain score(s)

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

233

frameshift

known variant

Reference ID: rs2273238

database	homozygous (T/T)	heterozygous	allele carriers
1000G	166	779	945
ExAC	1326	11109	12435

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.287	0.707
	0.164	0.068
(flanking)	-1.315	0.009

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

233

mutated

not conserved

233

Ptroglodytes

all identical

ENSPTRG00000018421

233

Mmulatta

all identical

ENSMMUG00000003462

233

Fcatus

not conserved

ENSFCAG00000008881

233

Mmusculus

all identical

ENSMUSG00000040183

233

Ggallus

all identical

ENSGALG00000015768

233

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057790

160

Dmelanogaster

not conserved

FBgn0086898

223

Celegans

all conserved

Y47D3A.22

475

Xtropicalis

not conserved

ENSXETG00000019116

160

protein features

start (aa)	end (aa)	feature	details
206	235	REPEAT	ANK 7.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2079 / 2079

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

693 / 693

position of stopcodon in wt / mu cDNA

2428 / 2428

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

350 / 350

chromosome

strand

last intron/exon boundary

1857

theoretical NMD boundary in CDS

1457

length of CDS

2079

coding sequence (CDS) position

698

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

1047

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

183472

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

90326360

original gDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAA

altered gDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGTAA

original cDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGCAG

altered cDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGCAG

wildtype AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADTTIVNNAG
QTPLETARYH NNPEVALLLT KAPQGSVSAG DTPSSEQAVA RKEEAREEFL SASPEPRAKD
DRRRKSRPKV SAFSDPTPPA DQQPGHQKNL HAHNHPKKRN RHRCSSPPPP HEFRAYQLYT
LYRGKDGKVM QAPINGCRCE PLINKLENQL EATVEEIKAE LGSVQDKMNT KLGQMENKTQ
HQMRVLDKLM VERLSAERTE CLNRLQQHSD TEKHEGEKRQ ISLVDELKTW CMLKIQNLEQ
KLSGDSRACR AKSTPSTCES STGVDQLVVT AGPAAASDSS PPVVRPKEKA LNSTATQRLQ
QELSSSDCTG SRLRNVKVQT ALLPMNEAAR SDQQAGPCVN RGTQTKKSGK SGPTRHRAQQ
PAASSTCGQP PPATGSEQTG PHIRDTSQAL ELTQYFFEAV STQMEKWYER KIEEARSQAN
QKAQQDKATL KEHIKSLEEE LAKLRTRVQK EN*

mutated AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADMTIVNNAG
QTPLETARYH NNPEVALLLT KAPQGSVSAG DTPSSEQAVA RKEEAREEFL SASPEPRAKD
DRRRKSRPKV SAFSDPTPPA DQQPGHQKNL HAHNHPKKRN RHRCSSPPPP HEFRAYQLYT
LYRGKDGKVM QAPINGCRCE PLINKLENQL EATVEEIKAE LGSVQDKMNT KLGQMENKTQ
HQMRVLDKLM VERLSAERTE CLNRLQQHSD TEKHEGEKRQ ISLVDELKTW CMLKIQNLEQ
KLSGDSRACR AKSTPSTCES STGVDQLVVT AGPAAASDSS PPVVRPKEKA LNSTATQRLQ
QELSSSDCTG SRLRNVKVQT ALLPMNEAAR SDQQAGPCVN RGTQTKKSGK SGPTRHRAQQ
PAASSTCGQP PPATGSEQTG PHIRDTSQAL ELTQYFFEAV STQMEKWYER KIEEARSQAN
QKAQQDKATL KEHIKSLEEE LAKLRTRVQK EN*

speed

0.61 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: 0.999907981577371 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:90326360C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD6

Ensembl transcript ID

ENST00000339746

Genbank transcript ID

N/A

UniProt peptide

Q9Y2G4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.698C>T
cDNA.1008C>T
g.183472C>T

AA changes

T233M Score: 81 explain score(s)

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

233

frameshift

known variant

Reference ID: rs2273238

database	homozygous (T/T)	heterozygous	allele carriers
1000G	166	779	945
ExAC	1326	11109	12435

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.287	0.707
	0.164	0.068
(flanking)	-1.315	0.009

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

233

mutated

not conserved

233

Ptroglodytes

all identical

ENSPTRG00000018421

233

Mmulatta

all identical

ENSMMUG00000003462

233

Fcatus

not conserved

ENSFCAG00000008881

233

Mmusculus

all identical

ENSMUSG00000040183

233

Ggallus

all identical

ENSGALG00000015768

233

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057790

160

Dmelanogaster

not conserved

FBgn0086898

223

Celegans

all conserved

Y47D3A.22

475

Xtropicalis

not conserved

ENSXETG00000019116

160

protein features

start (aa)	end (aa)	feature	details
206	235	REPEAT	ANK 7.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2184 / 2184

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

728 / 728

position of stopcodon in wt / mu cDNA

2494 / 2494

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

311 / 311

chromosome

strand

last intron/exon boundary

1923

theoretical NMD boundary in CDS

1562

length of CDS

2184

coding sequence (CDS) position

698

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

1008

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

183472

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

90326360

original gDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAA

altered gDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGTAA

original cDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGCAG

altered cDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGCAG

wildtype AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADTTIVNNAG
QTPLETARYH NNPEVALLLT KAPQVLRFSR GRSLRKKRER LKEERRAQSV PRDEVAQSKG
SVSAGDTPSS EQAVARKEEA REEFLSASPE PRAKDDRRRK SRPKVSAFSD PTPPADQQPG
HQKNLHAHNH PKKRNRHRCS SPPPPHEFRA YQLYTLYRGK DGKVMQAPIN GCRCEPLINK
LENQLEATVE EIKAELGSVQ DKMNTKLGQM ENKTQHQMRV LDKLMVERLS AERTECLNRL
QQHSDTEKHE GEKRQISLVD ELKTWCMLKI QNLEQKLSGD SRACRAKSTP STCESSTGVD
QLVVTAGPAA ASDSSPPVVR PKEKALNSTA TQRLQQELSS SDCTGSRLRN VKVQTALLPM
NEAARSDQQA GPCVNRGTQT KKSGKSGPTR HRAQQPAASS TCGQPPPATG SEQTGPHIRD
TSQALELTQY FFEAVSTQME KWYERKIEEA RSQANQKAQQ DKATLKEHIK SLEEELAKLR
TRVQKEN*

mutated AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADMTIVNNAG
QTPLETARYH NNPEVALLLT KAPQVLRFSR GRSLRKKRER LKEERRAQSV PRDEVAQSKG
SVSAGDTPSS EQAVARKEEA REEFLSASPE PRAKDDRRRK SRPKVSAFSD PTPPADQQPG
HQKNLHAHNH PKKRNRHRCS SPPPPHEFRA YQLYTLYRGK DGKVMQAPIN GCRCEPLINK
LENQLEATVE EIKAELGSVQ DKMNTKLGQM ENKTQHQMRV LDKLMVERLS AERTECLNRL
QQHSDTEKHE GEKRQISLVD ELKTWCMLKI QNLEQKLSGD SRACRAKSTP STCESSTGVD
QLVVTAGPAA ASDSSPPVVR PKEKALNSTA TQRLQQELSS SDCTGSRLRN VKVQTALLPM
NEAARSDQQA GPCVNRGTQT KKSGKSGPTR HRAQQPAASS TCGQPPPATG SEQTGPHIRD
TSQALELTQY FFEAVSTQME KWYERKIEEA RSQANQKAQQ DKATLKEHIK SLEEELAKLR
TRVQKEN*

speed

0.99 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999907981577371 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:90326360C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD6

Ensembl transcript ID

ENST00000447838

Genbank transcript ID

NM_014942

UniProt peptide

Q9Y2G4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.698C>T
cDNA.1004C>T
g.183472C>T

AA changes

T233M Score: 81 explain score(s)

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

233

frameshift

known variant

Reference ID: rs2273238

database	homozygous (T/T)	heterozygous	allele carriers
1000G	166	779	945
ExAC	1326	11109	12435

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.287	0.707
	0.164	0.068
(flanking)	-1.315	0.009

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

233

mutated

not conserved

233

Ptroglodytes

all identical

ENSPTRG00000018421

233

Mmulatta

all identical

ENSMMUG00000003462

233

Fcatus

not conserved

ENSFCAG00000008881

233

Mmusculus

all identical

ENSMUSG00000040183

233

Ggallus

all identical

ENSGALG00000015768

233

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057790

160

Dmelanogaster

not conserved

FBgn0086898

223

Celegans

all conserved

Y47D3A.22

475

Xtropicalis

not conserved

ENSXETG00000019116

160

protein features

start (aa)	end (aa)	feature	details
206	235	REPEAT	ANK 7.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2169 / 2169

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

723 / 723

position of stopcodon in wt / mu cDNA

2475 / 2475

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

307 / 307

chromosome

strand

last intron/exon boundary

1904

theoretical NMD boundary in CDS

1547

length of CDS

2169

coding sequence (CDS) position

698

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

1004

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

183472

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

90326360

original gDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAA

altered gDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGTAA

original cDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGCAG

altered cDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGCAG

wildtype AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADTTIVNNAG
QTPLETARYH NNPEVALLLT KAPQVLRFSR GRSLRKKRER LKEERRAQSV PRDEVAQSKG
SVSAGDTPSS EQAVARKEEA REEFLSASPE PRAKDDRRRK SRPKVSAFSD PTPPADQQPG
HQKNLHAHNH PKKRNRHRCS SPPPPHEFRA YQLYTLYRGK DGKVMQAPIN GCRCEPLINK
LENQLEATVE EIKAELGSVQ DKMNTKLGQM ENKTQHQMRV LDKLMVERLS AERTECLNRL
QQHSDTEKHE GEKRQISLVD ELKTWCMLKI QNLEQKLSGD SRACRAKSTP STCVDQLVVT
AGPAAASDSS PPVVRPKEKA LNSTATQRLQ QELSSSDCTG SRLRNVKVQT ALLPMNEAAR
SDQQAGPCVN RGTQTKKSGK SGPTRHRAQQ PAASSTCGQP PPATGSEQTG PHIRDTSQAL
ELTQYFFEAV STQMEKWYER KIEEARSQAN QKAQQDKATL KEHIKSLEEE LAKLRTRVQK
EN*

mutated AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADMTIVNNAG
QTPLETARYH NNPEVALLLT KAPQVLRFSR GRSLRKKRER LKEERRAQSV PRDEVAQSKG
SVSAGDTPSS EQAVARKEEA REEFLSASPE PRAKDDRRRK SRPKVSAFSD PTPPADQQPG
HQKNLHAHNH PKKRNRHRCS SPPPPHEFRA YQLYTLYRGK DGKVMQAPIN GCRCEPLINK
LENQLEATVE EIKAELGSVQ DKMNTKLGQM ENKTQHQMRV LDKLMVERLS AERTECLNRL
QQHSDTEKHE GEKRQISLVD ELKTWCMLKI QNLEQKLSGD SRACRAKSTP STCVDQLVVT
AGPAAASDSS PPVVRPKEKA LNSTATQRLQ QELSSSDCTG SRLRNVKVQT ALLPMNEAAR
SDQQAGPCVN RGTQTKKSGK SGPTRHRAQQ PAASSTCGQP PPATGSEQTG PHIRDTSQAL
ELTQYFFEAV STQMEKWYER KIEEARSQAN QKAQQDKATL KEHIKSLEEE LAKLRTRVQK
EN*

speed

0.53 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999907981577371 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:90326360C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD6

Ensembl transcript ID

ENST00000522441

Genbank transcript ID

N/A

UniProt peptide

Q9Y2G4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.698C>T
cDNA.1339C>T
g.183472C>T

AA changes

T233M Score: 81 explain score(s)

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

233

frameshift

known variant

Reference ID: rs2273238

database	homozygous (T/T)	heterozygous	allele carriers
1000G	166	779	945
ExAC	1326	11109	12435

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.287	0.707
	0.164	0.068
(flanking)	-1.315	0.009

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

233

mutated

not conserved

233

Ptroglodytes

all identical

ENSPTRG00000018421

233

Mmulatta

all identical

ENSMMUG00000003462

233

Fcatus

not conserved

ENSFCAG00000008881

233

Mmusculus

all identical

ENSMUSG00000040183

233

Ggallus

all identical

ENSGALG00000015768

233

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057790

160

Dmelanogaster

not conserved

FBgn0086898

223

Celegans

all conserved

Y47D3A.22

475

Xtropicalis

not conserved

ENSXETG00000019116

160

protein features

start (aa)	end (aa)	feature	details
206	235	REPEAT	ANK 7.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2184 / 2184

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

728 / 728

position of stopcodon in wt / mu cDNA

2825 / 2825

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

642 / 642

chromosome

strand

last intron/exon boundary

2254

theoretical NMD boundary in CDS

1562

length of CDS

2184

coding sequence (CDS) position

698

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

1339

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

183472

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

90326360

original gDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAA

altered gDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGTAA

original cDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGCAG

altered cDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGCAG

wildtype AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADTTIVNNAG
QTPLETARYH NNPEVALLLT KAPQVLRFSR GRSLRKKRER LKEERRAQSV PRDEVAQSKG
SVSAGDTPSS EQAVARKEEA REEFLSASPE PRAKDDRRRK SRPKVSAFSD PTPPADQQPG
HQKNLHAHNH PKKRNRHRCS SPPPPHEFRA YQLYTLYRGK DGKVMQAPIN GCRCEPLINK
LENQLEATVE EIKAELGSVQ DKMNTKLGQM ENKTQHQMRV LDKLMVERLS AERTECLNRL
QQHSDTEKHE GEKRQISLVD ELKTWCMLKI QNLEQKLSGD SRACRAKSTP STCESSTGVD
QLVVTAGPAA ASDSSPPVVR PKEKALNSTA TQRLQQELSS SDCTGSRLRN VKVQTALLPM
NEAARSDQQA GPCVNRGTQT KKSGKSGPTR HRAQQPAASS TCGQPPPATG SEQTGPHIRD
TSQALELTQY FFEAVSTQME KWYERKIEEA RSQANQKAQQ DKATLKEHIK SLEEELAKLR
TRVQKEN*

mutated AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADMTIVNNAG
QTPLETARYH NNPEVALLLT KAPQVLRFSR GRSLRKKRER LKEERRAQSV PRDEVAQSKG
SVSAGDTPSS EQAVARKEEA REEFLSASPE PRAKDDRRRK SRPKVSAFSD PTPPADQQPG
HQKNLHAHNH PKKRNRHRCS SPPPPHEFRA YQLYTLYRGK DGKVMQAPIN GCRCEPLINK
LENQLEATVE EIKAELGSVQ DKMNTKLGQM ENKTQHQMRV LDKLMVERLS AERTECLNRL
QQHSDTEKHE GEKRQISLVD ELKTWCMLKI QNLEQKLSGD SRACRAKSTP STCESSTGVD
QLVVTAGPAA ASDSSPPVVR PKEKALNSTA TQRLQQELSS SDCTGSRLRN VKVQTALLPM
NEAARSDQQA GPCVNRGTQT KKSGKSGPTR HRAQQPAASS TCGQPPPATG SEQTGPHIRD
TSQALELTQY FFEAVSTQME KWYERKIEEA RSQANQKAQQ DKATLKEHIK SLEEELAKLR
TRVQKEN*

speed

1.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999907981577371 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:90326360C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD6

Ensembl transcript ID

ENST00000485637

Genbank transcript ID

N/A

UniProt peptide

Q9Y2G4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.698C>T
cDNA.954C>T
g.183472C>T

AA changes

T233M Score: 81 explain score(s)

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

233

frameshift

known variant

Reference ID: rs2273238

database	homozygous (T/T)	heterozygous	allele carriers
1000G	166	779	945
ExAC	1326	11109	12435

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.287	0.707
	0.164	0.068
(flanking)	-1.315	0.009

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

233

mutated

not conserved

233

Ptroglodytes

all identical

ENSPTRG00000018421

233

Mmulatta

all identical

ENSMMUG00000003462

233

Fcatus

not conserved

ENSFCAG00000008881

233

Mmusculus

all identical

ENSMUSG00000040183

233

Ggallus

all identical

ENSGALG00000015768

233

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057790

160

Dmelanogaster

not conserved

FBgn0086898

223

Celegans

all conserved

Y47D3A.22

475

Xtropicalis

not conserved

ENSXETG00000019116

160

protein features

start (aa)	end (aa)	feature	details
206	235	REPEAT	ANK 7.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

924 / 924

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

308 / 308

position of stopcodon in wt / mu cDNA

1180 / 1180

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

257 / 257

chromosome

strand

last intron/exon boundary

971

theoretical NMD boundary in CDS

664

length of CDS

924

coding sequence (CDS) position

698

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

954

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

183472

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

90326360

original gDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAA

altered gDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGTAA

original cDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGCAG

altered cDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGCAG

wildtype AA sequence

mutated AA sequence

speed

0.54 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999907981577371 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:90326360C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD6

Ensembl transcript ID

ENST00000520793

Genbank transcript ID

NM_001242814

UniProt peptide

Q9Y2G4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.599C>T
cDNA.600C>T
g.183472C>T

AA changes

T200M Score: 81 explain score(s)

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

200

frameshift

known variant

Reference ID: rs2273238

database	homozygous (T/T)	heterozygous	allele carriers
1000G	166	779	945
ExAC	1326	11109	12435

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.287	0.707
	0.164	0.068
(flanking)	-1.315	0.009

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

200

mutated

not conserved

200

Ptroglodytes

all identical

ENSPTRG00000018421

233

NAG

Mmulatta

all identical

ENSMMUG00000003462

233

NAG

Fcatus

not conserved

ENSFCAG00000008881

233

NAG

Mmusculus

all identical

ENSMUSG00000040183

233

NAG

Ggallus

all identical

ENSGALG00000015768

233

NAG

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057790

160

NTGQTALDKARDNNNREL

Dmelanogaster

not conserved

FBgn0086898

223

AQGDC

Celegans

all conserved

Y47D3A.22

477

Xtropicalis

not conserved

ENSXETG00000019116

160

NAGQIALDTARHHNNSDV

protein features

start (aa)	end (aa)	feature	details
173	202	REPEAT	ANK 6.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1992 / 1992

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

664 / 664

position of stopcodon in wt / mu cDNA

1993 / 1993

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

2 / 2

chromosome

strand

last intron/exon boundary

1422

theoretical NMD boundary in CDS

1370

length of CDS

1992

coding sequence (CDS) position

599

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

600

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

183472

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

90326360

original gDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAA

altered gDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGTAA

original cDNA sequence snippet

ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTCT

altered cDNA sequence snippet

ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGTCT

wildtype AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKAGNT ALHLACQNSH
SQSTRVLLLA GSRADLKNNA GDTCLHVAAR YNHLSIIRLL LTAFCSVHEK NQAGDTALHV
AAALNHKKVA KILLEAGADT TIVNNVLRFS RGRSLRKKRE RLKEERRAQS VPRDEVAQSK
GSVSAGDTPS SEQAVARKEE AREEFLSASP EPRAKDDRRR KSRPKVSAFS DPTPPADQQP
GHQKNLHAHN HPKKRNRHRC SSPPPPHEFR AYQLYTLYRG KDGKVMQAPI NGCRCEPLIN
KLENQLEATV EEIKAELGSV QDKMNTKLGQ MENKTQHQMR VLDKLMVERL SAERTECLNR
LQQHSDTEKH EGEKRQISLV DELKTWCMLK IQNLEQKLSG DSRACRAKST PSTCVDQLVV
TAGPAAASDS SPPVVRPKEK ALNSTATQRL QQELSSSDCT GSRLRNVKVQ TALLPMNEAA
RSDQQAGPCV NRGTQTKKSG KSGPTRHRAQ QPAASSTCGQ PPPATGSEQT GPHIRDTSQA
LELTQYFFEA VSTQMEKWYE RKIEEARSQA NQKAQQDKAT LKEHIKSLEE ELAKLRTRVQ
KEN*

mutated AA sequence

MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKAGNT ALHLACQNSH
SQSTRVLLLA GSRADLKNNA GDTCLHVAAR YNHLSIIRLL LTAFCSVHEK NQAGDTALHV
AAALNHKKVA KILLEAGADM TIVNNVLRFS RGRSLRKKRE RLKEERRAQS VPRDEVAQSK
GSVSAGDTPS SEQAVARKEE AREEFLSASP EPRAKDDRRR KSRPKVSAFS DPTPPADQQP
GHQKNLHAHN HPKKRNRHRC SSPPPPHEFR AYQLYTLYRG KDGKVMQAPI NGCRCEPLIN
KLENQLEATV EEIKAELGSV QDKMNTKLGQ MENKTQHQMR VLDKLMVERL SAERTECLNR
LQQHSDTEKH EGEKRQISLV DELKTWCMLK IQNLEQKLSG DSRACRAKST PSTCVDQLVV
TAGPAAASDS SPPVVRPKEK ALNSTATQRL QQELSSSDCT GSRLRNVKVQ TALLPMNEAA
RSDQQAGPCV NRGTQTKKSG KSGPTRHRAQ QPAASSTCGQ PPPATGSEQT GPHIRDTSQA
LELTQYFFEA VSTQMEKWYE RKIEEARSQA NQKAQQDKAT LKEHIKSLEE ELAKLRTRVQ
KEN*

speed

1.13 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