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: ENST00000392793
Querying Taster for transcript #2: ENST00000264037
MT speed 0 s - this script 3.608215 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TECTA	polymorphism_automatic	0.000119272455666009	simple_aae				R371G	single base exchange	rs612969		show file
TECTA	polymorphism_automatic	0.000119272455666009	simple_aae				R371G	single base exchange	rs612969		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999880727544334 (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)

chr11:120989335A>GN/A show variant in all transcripts IGV

HGNC symbol

TECTA

Ensembl transcript ID

ENST00000392793

Genbank transcript ID

NM_005422

UniProt peptide

O75443

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1111A>G
cDNA.1382A>G
g.17454A>G

AA changes

R371G Score: 125 explain score(s)

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

371

frameshift

known variant

Reference ID: rs612969

database	homozygous (G/G)	heterozygous	allele carriers
1000G	589	1042	1631
ExAC	10536	11695	22231

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.764	0.029
	2.752	0.752
(flanking)	2.634	0.752

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	17451	wt: 0.9952 / mu: 0.9958 (marginal change - not scored)	wt: AACACCGCAGAGGTT mu: AACACCGCGGAGGTT	CACC\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

371

mutated

not conserved

371

Ptroglodytes

not conserved

ENSPTRG00000004396

371

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000037705

371

Ggallus

not conserved

ENSGALG00000006614

371

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000059558

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
321	540	DOMAIN	VWFD 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6468 / 6468

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

2156 / 2156

position of stopcodon in wt / mu cDNA

6739 / 6739

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

272 / 272

chromosome

strand

last intron/exon boundary

6639

theoretical NMD boundary in CDS

6317

length of CDS

6468

coding sequence (CDS) position

1111

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

1382

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

17454

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

120989335

original gDNA sequence snippet

AGGCCAAGAATGAACACCGCAGAGGTTCAGCCGTCTCCTGG

altered gDNA sequence snippet

AGGCCAAGAATGAACACCGCGGAGGTTCAGCCGTCTCCTGG

original cDNA sequence snippet

AGGCCAAGAATGAACACCGCAGAGGTTCAGCCGTCTCCTGG

altered cDNA sequence snippet

AGGCCAAGAATGAACACCGCGGAGGTTCAGCCGTCTCCTGG

wildtype AA sequence

MNYSSFLRIW VSFIFALVQH QAQPRELMYP FWQNDTKTPK VDDGSSSEIK LAIPVFFFGV
PYRTVYVNNN GVVSFNVLVS QFTPESFPLT DGRAFVAPFW ADVHNGIRGE IYYRETMEPA
ILKRATKDIR KYFKDMATFS ATWVFIVTWE EVTFYGGSST TPVNTFQAVL VSDGSYTFTL
FNYYEINWTT GTASGGDPLT GLGGVMAQAG FNGGNLTNFF SLPGSRTPEI VNIQETTNVN
VPGRWAFKVD GKEIDPANGC TSRGQFLRRG EVFWDDLNCT VKCRCLDFNN EIYCQEASCS
PYEVCEPKGK FFYCSAVETS TCVVFGEPHY HTFDGFLFHF QGSCAYLLAR QCLQTSSLPF
FSVEAKNEHR RGSAVSWVKE LSVEVNGYKI LIPKGSYGRV KVNDLVTSLP VTLDLGTVKI
YQSGISTAVE TDFGLLVTFD GQHYASISVP GSYINSTCGL CGNYNKNPLD DFLRPDGRPA
MSVLDLGESW RVYHADWKCD SGCVDNCTQC DAATEALYFG SDYCGFLNKT DGPLWECGTV
VDPTAFVHSC VYDLCSVRDN GTLLCQAIQA YALVCQALGI PIGDWRTQTG CVSTVQCPSF
SHYSVCTSSC PDTCSDLTAS RNCATPCTEG CECNQGFVLS TSQCVPLHKC GCDFDGHYYT
MGEFFWATAN CTVQCLCEEG GDVYCFNKTC GSGEVCAVED GYQGCFPKRE TVCLLSQNQV
LHTFDGASYA FPSEFSYTLL KTCPERPEYL EIDINKKKPD AGPAWLRGLR ILVADQEVKI
GGIGASEVKL NGQEVELPFF HPSGKLEIYR NKNSTTVESK GVVTVQYSDI GLLYIRLSTT
YFNCTGGLCG FYNANASDEF CLPNGKCTDN LAVFLESWTT FEEICNGECG DLLKACNNDS
ELLKFYRSRS RCGIINDPSN SSFLECHGVV NVTAYYRTCL FRLCQSGGNE SELCDSVARY
ASACKNADVE VGPWRTYDFC PLECPENSHF EECITCTETC ETLTLGPICV DSCSEGCQCD
EGYALLGSQC VTRSECGCNF EGHQLATNET FWVDLDCQIF CYCSGTDNRV HCETIPCKDD
EYCMEEGGLY YCQARTDASC IVSGYGHYLT FDGFPFDFQT SCPLILCTTG SRPSSDSFPK
FVVTAKNEDR DPSLALWVKQ VDVTVFGYSI VIHRAYKHTV LVNSERLYLP LKLGQGKINI
FSFGFHVVVE TDFGLKVVYD WKTFLSITVP RSMQNSTYGL CGRYNGNPDD DLEMPMGLLA
SSVNEFGQSW VKRDTFCQVG CGDRCPSCAK VEGFSKVQQL CSLIPNQNAA FSKCHSKVNP
TFFYKNCLFD SCIDGGAVQT ACSWLQNYAS TCQTQGITVT GWRNYTSCTV TCPPNSHYES
CVSVCQPRCA AIRLKSDCSH YCVEGCHCDA GYVLNGKSCI LPHSCGCYSD GKYYEPKQLF
WNSDCTRRCR CFRRNVIQCD PRQCKSDEEC ALRNGVRGCF STKTSYCLAA GGGVFRTFDG
AFLRFPANCA FVLSTICQKL PDISFQLIIN FDKWSAPNLT IISPVYFYIN EEQILINDRN
TVKVNGTQVN VPFITGLATK IYSSEGFLVI DTSPDIQIYY NGFNVIKISI SERLQNKVCG
LCGNFNGDLT DDYVTLRGKP VVSSVVLAQS WKTNGMQKRP LAPSCNELQF SQYAAMCDNV
HIQKMQGDGY CLKLTDMKGF FQPCYGLLDP LPFYESCYLD GCYSHKKFQL CGSLAAYGEA
CRSFGILSTE WIEKENCSGV VEDPCVGADC PNRTCELGNG RELCGCIEPP PYGNNSHDII
DAEVTCKAAQ MEVSISKCKL FQLGFEREGV RINDRQCTGI EGEDFISFQI NNTKGNCGNI
VQSNGTHIMY KNTLWIESAN NTGNIITRDR TINVEFSCAY ELDIKISLDS VVKPMLSVIN
LTVPTQEGSF ITKMALYKNA SYKHPYRQGE VVLTTRDVLY VGVFVVGADA THLILTLNKC
YATPTRDSND KLRYFIIEGG CQNLKDNTIG IEENAVSLTC RFHVTVFKFI GDYDEVHLHC
AVSLCDSEKY SCKITCPHNS RIATDYTKEP KEQIISVGPI RRKRLDWCED NGGCEQICTS
RVDGPLCSCV TGTLQEDGKS CRASNSSMEL QVWTLLLIMI QISLWHFVYK SGTTS*

mutated AA sequence

MNYSSFLRIW VSFIFALVQH QAQPRELMYP FWQNDTKTPK VDDGSSSEIK LAIPVFFFGV
PYRTVYVNNN GVVSFNVLVS QFTPESFPLT DGRAFVAPFW ADVHNGIRGE IYYRETMEPA
ILKRATKDIR KYFKDMATFS ATWVFIVTWE EVTFYGGSST TPVNTFQAVL VSDGSYTFTL
FNYYEINWTT GTASGGDPLT GLGGVMAQAG FNGGNLTNFF SLPGSRTPEI VNIQETTNVN
VPGRWAFKVD GKEIDPANGC TSRGQFLRRG EVFWDDLNCT VKCRCLDFNN EIYCQEASCS
PYEVCEPKGK FFYCSAVETS TCVVFGEPHY HTFDGFLFHF QGSCAYLLAR QCLQTSSLPF
FSVEAKNEHR GGSAVSWVKE LSVEVNGYKI LIPKGSYGRV KVNDLVTSLP VTLDLGTVKI
YQSGISTAVE TDFGLLVTFD GQHYASISVP GSYINSTCGL CGNYNKNPLD DFLRPDGRPA
MSVLDLGESW RVYHADWKCD SGCVDNCTQC DAATEALYFG SDYCGFLNKT DGPLWECGTV
VDPTAFVHSC VYDLCSVRDN GTLLCQAIQA YALVCQALGI PIGDWRTQTG CVSTVQCPSF
SHYSVCTSSC PDTCSDLTAS RNCATPCTEG CECNQGFVLS TSQCVPLHKC GCDFDGHYYT
MGEFFWATAN CTVQCLCEEG GDVYCFNKTC GSGEVCAVED GYQGCFPKRE TVCLLSQNQV
LHTFDGASYA FPSEFSYTLL KTCPERPEYL EIDINKKKPD AGPAWLRGLR ILVADQEVKI
GGIGASEVKL NGQEVELPFF HPSGKLEIYR NKNSTTVESK GVVTVQYSDI GLLYIRLSTT
YFNCTGGLCG FYNANASDEF CLPNGKCTDN LAVFLESWTT FEEICNGECG DLLKACNNDS
ELLKFYRSRS RCGIINDPSN SSFLECHGVV NVTAYYRTCL FRLCQSGGNE SELCDSVARY
ASACKNADVE VGPWRTYDFC PLECPENSHF EECITCTETC ETLTLGPICV DSCSEGCQCD
EGYALLGSQC VTRSECGCNF EGHQLATNET FWVDLDCQIF CYCSGTDNRV HCETIPCKDD
EYCMEEGGLY YCQARTDASC IVSGYGHYLT FDGFPFDFQT SCPLILCTTG SRPSSDSFPK
FVVTAKNEDR DPSLALWVKQ VDVTVFGYSI VIHRAYKHTV LVNSERLYLP LKLGQGKINI
FSFGFHVVVE TDFGLKVVYD WKTFLSITVP RSMQNSTYGL CGRYNGNPDD DLEMPMGLLA
SSVNEFGQSW VKRDTFCQVG CGDRCPSCAK VEGFSKVQQL CSLIPNQNAA FSKCHSKVNP
TFFYKNCLFD SCIDGGAVQT ACSWLQNYAS TCQTQGITVT GWRNYTSCTV TCPPNSHYES
CVSVCQPRCA AIRLKSDCSH YCVEGCHCDA GYVLNGKSCI LPHSCGCYSD GKYYEPKQLF
WNSDCTRRCR CFRRNVIQCD PRQCKSDEEC ALRNGVRGCF STKTSYCLAA GGGVFRTFDG
AFLRFPANCA FVLSTICQKL PDISFQLIIN FDKWSAPNLT IISPVYFYIN EEQILINDRN
TVKVNGTQVN VPFITGLATK IYSSEGFLVI DTSPDIQIYY NGFNVIKISI SERLQNKVCG
LCGNFNGDLT DDYVTLRGKP VVSSVVLAQS WKTNGMQKRP LAPSCNELQF SQYAAMCDNV
HIQKMQGDGY CLKLTDMKGF FQPCYGLLDP LPFYESCYLD GCYSHKKFQL CGSLAAYGEA
CRSFGILSTE WIEKENCSGV VEDPCVGADC PNRTCELGNG RELCGCIEPP PYGNNSHDII
DAEVTCKAAQ MEVSISKCKL FQLGFEREGV RINDRQCTGI EGEDFISFQI NNTKGNCGNI
VQSNGTHIMY KNTLWIESAN NTGNIITRDR TINVEFSCAY ELDIKISLDS VVKPMLSVIN
LTVPTQEGSF ITKMALYKNA SYKHPYRQGE VVLTTRDVLY VGVFVVGADA THLILTLNKC
YATPTRDSND KLRYFIIEGG CQNLKDNTIG IEENAVSLTC RFHVTVFKFI GDYDEVHLHC
AVSLCDSEKY SCKITCPHNS RIATDYTKEP KEQIISVGPI RRKRLDWCED NGGCEQICTS
RVDGPLCSCV TGTLQEDGKS CRASNSSMEL QVWTLLLIMI QISLWHFVYK SGTTS*

speed

0.84 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: 0.999880727544334 (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)

chr11:120989335A>GN/A show variant in all transcripts IGV

HGNC symbol

TECTA

Ensembl transcript ID

ENST00000264037

Genbank transcript ID

NM_005422

UniProt peptide

O75443

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1111A>G
cDNA.1111A>G
g.17454A>G

AA changes

R371G Score: 125 explain score(s)

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

371

frameshift

known variant

Reference ID: rs612969

database	homozygous (G/G)	heterozygous	allele carriers
1000G	589	1042	1631
ExAC	10536	11695	22231

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.764	0.029
	2.752	0.752
(flanking)	2.634	0.752

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	17451	wt: 0.9952 / mu: 0.9958 (marginal change - not scored)	wt: AACACCGCAGAGGTT mu: AACACCGCGGAGGTT	CACC\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

371

mutated

not conserved

371

Ptroglodytes

not conserved

ENSPTRG00000004396

371

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000037705

371

Ggallus

not conserved

ENSGALG00000006614

371

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000059558

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
321	540	DOMAIN	VWFD 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6468 / 6468

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

2156 / 2156

position of stopcodon in wt / mu cDNA

6468 / 6468

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

6368

theoretical NMD boundary in CDS

6317

length of CDS

6468

coding sequence (CDS) position

1111

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

1111

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

17454

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

120989335

original gDNA sequence snippet

AGGCCAAGAATGAACACCGCAGAGGTTCAGCCGTCTCCTGG

altered gDNA sequence snippet

AGGCCAAGAATGAACACCGCGGAGGTTCAGCCGTCTCCTGG

original cDNA sequence snippet

AGGCCAAGAATGAACACCGCAGAGGTTCAGCCGTCTCCTGG

altered cDNA sequence snippet

AGGCCAAGAATGAACACCGCGGAGGTTCAGCCGTCTCCTGG

wildtype AA sequence

mutated AA sequence

MNYSSFLRIW VSFIFALVQH QAQPRELMYP FWQNDTKTPK VDDGSSSEIK LAIPVFFFGV
PYRTVYVNNN GVVSFNVLVS QFTPESFPLT DGRAFVAPFW ADVHNGIRGE IYYRETMEPA
ILKRATKDIR KYFKDMATFS ATWVFIVTWE EVTFYGGSST TPVNTFQAVL VSDGSYTFTL
FNYYEINWTT GTASGGDPLT GLGGVMAQAG FNGGNLTNFF SLPGSRTPEI VNIQETTNVN
VPGRWAFKVD GKEIDPANGC TSRGQFLRRG EVFWDDLNCT VKCRCLDFNN EIYCQEASCS
PYEVCEPKGK FFYCSAVETS TCVVFGEPHY HTFDGFLFHF QGSCAYLLAR QCLQTSSLPF
FSVEAKNEHR GGSAVSWVKE LSVEVNGYKI LIPKGSYGRV KVNDLVTSLP VTLDLGTVKI
YQSGISTAVE TDFGLLVTFD GQHYASISVP GSYINSTCGL CGNYNKNPLD DFLRPDGRPA
MSVLDLGESW RVYHADWKCD SGCVDNCTQC DAATEALYFG SDYCGFLNKT DGPLWECGTV
VDPTAFVHSC VYDLCSVRDN GTLLCQAIQA YALVCQALGI PIGDWRTQTG CVSTVQCPSF
SHYSVCTSSC PDTCSDLTAS RNCATPCTEG CECNQGFVLS TSQCVPLHKC GCDFDGHYYT
MGEFFWATAN CTVQCLCEEG GDVYCFNKTC GSGEVCAVED GYQGCFPKRE TVCLLSQNQV
LHTFDGASYA FPSEFSYTLL KTCPERPEYL EIDINKKKPD AGPAWLRGLR ILVADQEVKI
GGIGASEVKL NGQEVELPFF HPSGKLEIYR NKNSTTVESK GVVTVQYSDI GLLYIRLSTT
YFNCTGGLCG FYNANASDEF CLPNGKCTDN LAVFLESWTT FEEICNGECG DLLKACNNDS
ELLKFYRSRS RCGIINDPSN SSFLECHGVV NVTAYYRTCL FRLCQSGGNE SELCDSVARY
ASACKNADVE VGPWRTYDFC PLECPENSHF EECITCTETC ETLTLGPICV DSCSEGCQCD
EGYALLGSQC VTRSECGCNF EGHQLATNET FWVDLDCQIF CYCSGTDNRV HCETIPCKDD
EYCMEEGGLY YCQARTDASC IVSGYGHYLT FDGFPFDFQT SCPLILCTTG SRPSSDSFPK
FVVTAKNEDR DPSLALWVKQ VDVTVFGYSI VIHRAYKHTV LVNSERLYLP LKLGQGKINI
FSFGFHVVVE TDFGLKVVYD WKTFLSITVP RSMQNSTYGL CGRYNGNPDD DLEMPMGLLA
SSVNEFGQSW VKRDTFCQVG CGDRCPSCAK VEGFSKVQQL CSLIPNQNAA FSKCHSKVNP
TFFYKNCLFD SCIDGGAVQT ACSWLQNYAS TCQTQGITVT GWRNYTSCTV TCPPNSHYES
CVSVCQPRCA AIRLKSDCSH YCVEGCHCDA GYVLNGKSCI LPHSCGCYSD GKYYEPKQLF
WNSDCTRRCR CFRRNVIQCD PRQCKSDEEC ALRNGVRGCF STKTSYCLAA GGGVFRTFDG
AFLRFPANCA FVLSTICQKL PDISFQLIIN FDKWSAPNLT IISPVYFYIN EEQILINDRN
TVKVNGTQVN VPFITGLATK IYSSEGFLVI DTSPDIQIYY NGFNVIKISI SERLQNKVCG
LCGNFNGDLT DDYVTLRGKP VVSSVVLAQS WKTNGMQKRP LAPSCNELQF SQYAAMCDNV
HIQKMQGDGY CLKLTDMKGF FQPCYGLLDP LPFYESCYLD GCYSHKKFQL CGSLAAYGEA
CRSFGILSTE WIEKENCSGV VEDPCVGADC PNRTCELGNG RELCGCIEPP PYGNNSHDII
DAEVTCKAAQ MEVSISKCKL FQLGFEREGV RINDRQCTGI EGEDFISFQI NNTKGNCGNI
VQSNGTHIMY KNTLWIESAN NTGNIITRDR TINVEFSCAY ELDIKISLDS VVKPMLSVIN
LTVPTQEGSF ITKMALYKNA SYKHPYRQGE VVLTTRDVLY VGVFVVGADA THLILTLNKC
YATPTRDSND KLRYFIIEGG CQNLKDNTIG IEENAVSLTC RFHVTVFKFI GDYDEVHLHC
AVSLCDSEKY SCKITCPHNS RIATDYTKEP KEQIISVGPI RRKRLDWCED NGGCEQICTS
RVDGPLCSCV TGTLQEDGKS CRASNSSMEL QVWTLLLIMI QISLWHFVYK SGTTS*

speed

0.77 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems