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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000377630
Querying Taster for transcript #2: ENST00000262547
Querying Taster for transcript #3: ENST00000329494
Querying Taster for transcript #4: ENST00000357236
MT speed 0 s - this script 4.631395 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DZANK1	polymorphism_automatic	0.000122018417509029	simple_aae				G356S	single base exchange	rs6035037		show file
DZANK1	polymorphism_automatic	0.000122018417509029	simple_aae				G354S	single base exchange	rs6035037		show file
DZANK1	polymorphism_automatic	0.000122018417509029	simple_aae				G240S	single base exchange	rs6035037		show file
DZANK1	polymorphism_automatic	0.000225006738143962	simple_aae				G181S	single base exchange	rs6035037		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999877981582491 (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)

chr20:18395988C>TN/A show variant in all transcripts IGV

HGNC symbol

DZANK1

Ensembl transcript ID

ENST00000329494

Genbank transcript ID

N/A

UniProt peptide

Q9NVP4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1066G>A
cDNA.1275G>A
g.51842G>A

AA changes

G356S Score: 56 explain score(s)

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

356

frameshift

known variant

Reference ID: rs6035037

database	homozygous (T/T)	heterozygous	allele carriers
1000G	189	873	1062
ExAC	5115	22537	27652

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.489	1
	1.658	0.999
(flanking)	-0.132	0.993

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
Acc marginally increased	51843	wt: 0.5329 / mu: 0.5578 (marginal change - not scored)	wt: CTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTGG mu: CTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTGG	gcgg\|CTGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

356

mutated

not conserved

356

Ptroglodytes

all identical

ENSPTRG00000013285

354

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000006598

268

Mmusculus

not conserved

ENSMUSG00000037259

375

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012074

347

Drerio

not conserved

ENSDARG00000055787

353

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013794

370

protein features

start (aa)	end (aa)	feature	details
339	387	ZN_FING	DZANK-type 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2193 / 2193

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

731 / 731

position of stopcodon in wt / mu cDNA

2402 / 2402

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

210 / 210

chromosome

strand

-1

last intron/exon boundary

2237

theoretical NMD boundary in CDS

1977

length of CDS

2193

coding sequence (CDS) position

1066

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

1275

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

51842

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

18395988

original gDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTG

altered gDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTG

original cDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGCTC

altered cDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGCTC

wildtype AA sequence

MTAGSVCVPQ IIPLRVPQPG KANHEIDNNT LLEMKSDTPD VNIYYTLDGS KPEFLKRIGY
GENNTFKYIK PITLPDGKIQ VKAIAVSKDC RQSGIVTKVF HVDYEPPNIV SPEDNVENVL
KDSSRQAREF KNGFVGSKLK KKYKNSENQR SWNVNLRKFP ESPLEIPAYG GGSGSRPPTR
QSQSPGFAHV SGQKCLTSTE IMRIQRETDF LKCAHCLAPR PSDPFARFCQ ECGSPVPPIF
GCRLPPPEGA QMGLCAECRS LVPMNTPICV VCEAPLALQL QPQASLHLKE KVICRACGTG
NPAHLRYCVT CEGALPSSQE SMCSGDKAPP PPTQKGGTIS CYRCGRWNLW EASFCGWCGA
MLGIPAGCSV CPKCGASNHL SARFCGSCGI CVKSLVKLSL DRSLALAAEE PRPFSESLNI
PLPRSDVGTK RDIGTQTVGL FYPSGKLLAK KEQELASQKQ RQEKMSDHKP LLTAISPGRG
YWRRQLDHIS AHLRCYAQNN PEFRALIAEP RMGKLISATV HEDGCEVSIR LNYSQVSNKV
RKLRLREVKQ PASSKGTKLA GRPLIKNFKT KTFQEKKEQL IPENRLLLKE VGPTGEGRVS
VIEQLLDEGA DPNCCDEDNR PVITVAVMNK HHEAIPVLVQ RGADIDQQWG PLRNTALHEA
TLLGLAGRES TATLLGCNAS IQKKNAGGQT AYDLALNTGD DLVTSLFAAK FGQGLEDQLA
QTRSLSLDDC *

mutated AA sequence

MTAGSVCVPQ IIPLRVPQPG KANHEIDNNT LLEMKSDTPD VNIYYTLDGS KPEFLKRIGY
GENNTFKYIK PITLPDGKIQ VKAIAVSKDC RQSGIVTKVF HVDYEPPNIV SPEDNVENVL
KDSSRQAREF KNGFVGSKLK KKYKNSENQR SWNVNLRKFP ESPLEIPAYG GGSGSRPPTR
QSQSPGFAHV SGQKCLTSTE IMRIQRETDF LKCAHCLAPR PSDPFARFCQ ECGSPVPPIF
GCRLPPPEGA QMGLCAECRS LVPMNTPICV VCEAPLALQL QPQASLHLKE KVICRACGTG
NPAHLRYCVT CEGALPSSQE SMCSGDKAPP PPTQKGGTIS CYRCGRWNLW EASFCSWCGA
MLGIPAGCSV CPKCGASNHL SARFCGSCGI CVKSLVKLSL DRSLALAAEE PRPFSESLNI
PLPRSDVGTK RDIGTQTVGL FYPSGKLLAK KEQELASQKQ RQEKMSDHKP LLTAISPGRG
YWRRQLDHIS AHLRCYAQNN PEFRALIAEP RMGKLISATV HEDGCEVSIR LNYSQVSNKV
RKLRLREVKQ PASSKGTKLA GRPLIKNFKT KTFQEKKEQL IPENRLLLKE VGPTGEGRVS
VIEQLLDEGA DPNCCDEDNR PVITVAVMNK HHEAIPVLVQ RGADIDQQWG PLRNTALHEA
TLLGLAGRES TATLLGCNAS IQKKNAGGQT AYDLALNTGD DLVTSLFAAK FGQGLEDQLA
QTRSLSLDDC *

speed

0.49 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: 0.999877981582491 (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)

chr20:18395988C>TN/A show variant in all transcripts IGV

HGNC symbol

DZANK1

Ensembl transcript ID

ENST00000262547

Genbank transcript ID

NM_001099407

UniProt peptide

Q9NVP4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1060G>A
cDNA.1269G>A
g.51842G>A

AA changes

G354S Score: 56 explain score(s)

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

354

frameshift

known variant

Reference ID: rs6035037

database	homozygous (T/T)	heterozygous	allele carriers
1000G	189	873	1062
ExAC	5115	22537	27652

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.489	1
	1.658	0.999
(flanking)	-0.132	0.993

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
Acc marginally increased	51843	wt: 0.5329 / mu: 0.5578 (marginal change - not scored)	wt: CTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTGG mu: CTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTGG	gcgg\|CTGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

354

mutated

not conserved

354

Ptroglodytes

all identical

ENSPTRG00000013285

354

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000006598

268

Mmusculus

not conserved

ENSMUSG00000037259

375

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012074

347

Drerio

not conserved

ENSDARG00000055787

353

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013794

370

protein features

start (aa)	end (aa)	feature	details
339	387	ZN_FING	DZANK-type 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2259 / 2259

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

753 / 753

position of stopcodon in wt / mu cDNA

2468 / 2468

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

210 / 210

chromosome

strand

-1

last intron/exon boundary

2303

theoretical NMD boundary in CDS

2043

length of CDS

2259

coding sequence (CDS) position

1060

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

1269

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

51842

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

18395988

original gDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTG

altered gDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTG

original cDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGCTC

altered cDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGCTC

wildtype AA sequence

MTAGSVCVPQ IIPLRVPQPG KANHEIDNNT LLEMKSDTPD VNIYYTLDGS KPEFLKRIGY
GENNTFKYIK PITLPDGKIQ VKAIAVSKDC RQSGIVTKVF HVDYEPPNIV SPEDNVENVL
KDSSRQEFKN GFVGSKLKKK YKNSENQRSW NVNLRKFPES PLEIPAYGGG SGSRPPTRQS
QSPGFAHVSG QKCLTSTEIM RIQRETDFLK CAHCLAPRPS DPFARFCQEC GSPVPPIFGC
RLPPPEGAQM GLCAECRSLV PMNTPICVVC EAPLALQLQP QASLHLKEKV ICRACGTGNP
AHLRYCVTCE GALPSSQESM CSGDKAPPPP TQKGGTISCY RCGRWNLWEA SFCGWCGAML
GIPAGCSVCP KCGASNHLSA RFCGSCGICV KSLVKLSLDR SLALAAEEPR PFSESLNIPL
PRSDVGTKRD IGTQTVGLFY PSGKLLAKKE QELASQKQRQ EKMSDHKPLL TAISPGRGYW
RRQLDHISAH LRCYAQNNPE FRALIAEPRM GKLISATVHE DGCEVSIRLN YSQVSNKNLY
LNKAVNFSDH LLSSAAEGDG GLCGSRSSWV SDYSQSTSDT IEKIKRIKNF KTKTFQEKKE
QLIPENRLLL KEVGPTGEGR VSVIEQLLDE GADPNCCDED NRPVITVAVM NKHHEAIPVL
VQRGADIDQQ WGPLRNTALH EATLLGLAGR ESTATLLGCN ASIQKKNAGG QTAYDLALNT
GDDLVTSLFA AKFGQGLEDQ LAQTRSLSLD DC*

mutated AA sequence

MTAGSVCVPQ IIPLRVPQPG KANHEIDNNT LLEMKSDTPD VNIYYTLDGS KPEFLKRIGY
GENNTFKYIK PITLPDGKIQ VKAIAVSKDC RQSGIVTKVF HVDYEPPNIV SPEDNVENVL
KDSSRQEFKN GFVGSKLKKK YKNSENQRSW NVNLRKFPES PLEIPAYGGG SGSRPPTRQS
QSPGFAHVSG QKCLTSTEIM RIQRETDFLK CAHCLAPRPS DPFARFCQEC GSPVPPIFGC
RLPPPEGAQM GLCAECRSLV PMNTPICVVC EAPLALQLQP QASLHLKEKV ICRACGTGNP
AHLRYCVTCE GALPSSQESM CSGDKAPPPP TQKGGTISCY RCGRWNLWEA SFCSWCGAML
GIPAGCSVCP KCGASNHLSA RFCGSCGICV KSLVKLSLDR SLALAAEEPR PFSESLNIPL
PRSDVGTKRD IGTQTVGLFY PSGKLLAKKE QELASQKQRQ EKMSDHKPLL TAISPGRGYW
RRQLDHISAH LRCYAQNNPE FRALIAEPRM GKLISATVHE DGCEVSIRLN YSQVSNKNLY
LNKAVNFSDH LLSSAAEGDG GLCGSRSSWV SDYSQSTSDT IEKIKRIKNF KTKTFQEKKE
QLIPENRLLL KEVGPTGEGR VSVIEQLLDE GADPNCCDED NRPVITVAVM NKHHEAIPVL
VQRGADIDQQ WGPLRNTALH EATLLGLAGR ESTATLLGCN ASIQKKNAGG QTAYDLALNT
GDDLVTSLFA AKFGQGLEDQ LAQTRSLSLD DC*

speed

1.19 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999877981582491 (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)

chr20:18395988C>TN/A show variant in all transcripts IGV

HGNC symbol

DZANK1

Ensembl transcript ID

ENST00000357236

Genbank transcript ID

N/A

UniProt peptide

Q9NVP4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.718G>A
cDNA.1378G>A
g.51842G>A

AA changes

G240S Score: 56 explain score(s)

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

240

frameshift

known variant

Reference ID: rs6035037

database	homozygous (T/T)	heterozygous	allele carriers
1000G	189	873	1062
ExAC	5115	22537	27652

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.489	1
	1.658	0.999
(flanking)	-0.132	0.993

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
Acc marginally increased	51843	wt: 0.5329 / mu: 0.5578 (marginal change - not scored)	wt: CTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTGG mu: CTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTGG	gcgg\|CTGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

240

mutated

not conserved

240

Ptroglodytes

all identical

ENSPTRG00000013285

354

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000006598

268

Mmusculus

not conserved

ENSMUSG00000037259

375

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012074

350

Drerio

not conserved

ENSDARG00000055787

353

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013794

370

protein features

start (aa)	end (aa)	feature	details
211	270	ZN_FING	DZANK-type 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1917 / 1917

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

639 / 639

position of stopcodon in wt / mu cDNA

2577 / 2577

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

661 / 661

chromosome

strand

-1

last intron/exon boundary

2412

theoretical NMD boundary in CDS

1701

length of CDS

1917

coding sequence (CDS) position

718

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

1378

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

51842

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

18395988

original gDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTG

altered gDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTG

original cDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGCTC

altered cDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGCTC

wildtype AA sequence

MLTLESFQRV HWKSQLMVED QVLDHPPASP RQDTVPFTFK SFLFGHSMEI RPWKRKGRTL
FRRLLFQSPG FAHVSGQKCL TSTEIMRIQR ETDFLKCAHC LAPRPSDPFA RFCQECGSPV
PPIFGCRLPP PEGAQMGLCA ECRSLVPMNT PICVVCEAPL ALQLQPQASL HLKEKVICRA
CGTGNPAHLR YCVTCEGALP SSQESMCSGD KAPPPPTQKG GTISCYRCGR WNLWEASFCG
WCGAMLGIPA GCSVCPKCGA SNHLSARFCG SCGICVKSLV KLSLDRSLAL AAEEPRPFSE
SLNIPLPRSD VGTKRDIGTQ TVGLFYPSGK LLAKKEQELA SQKQRQEKMS DHKPLLTAIS
PGRGYWRRQL DHISAHLRCY AQNNPEFRAL IAEPRMGKLI SATVHEDGCE VSIRLNYSQV
SNKNLYLNKA VNFSDHLLSS AAEGDGGLCG SRSSWVSDYS QSTSDTIEKI KRIKNFKTKT
FQEKKEQLIP ENRLLLKEVG PTGEGRVSVI EQLLDEGADP NCCDEDNRPV ITVAVMNKHH
EAIPVLVQRG ADIDQQWGPL RNTALHEATL LGLAGRESTA TLLGCNASIQ KKNAGGQTAY
DLALNTGDDL VTSLFAAKFG QGLEDQLAQT RSLSLDDC*

mutated AA sequence

MLTLESFQRV HWKSQLMVED QVLDHPPASP RQDTVPFTFK SFLFGHSMEI RPWKRKGRTL
FRRLLFQSPG FAHVSGQKCL TSTEIMRIQR ETDFLKCAHC LAPRPSDPFA RFCQECGSPV
PPIFGCRLPP PEGAQMGLCA ECRSLVPMNT PICVVCEAPL ALQLQPQASL HLKEKVICRA
CGTGNPAHLR YCVTCEGALP SSQESMCSGD KAPPPPTQKG GTISCYRCGR WNLWEASFCS
WCGAMLGIPA GCSVCPKCGA SNHLSARFCG SCGICVKSLV KLSLDRSLAL AAEEPRPFSE
SLNIPLPRSD VGTKRDIGTQ TVGLFYPSGK LLAKKEQELA SQKQRQEKMS DHKPLLTAIS
PGRGYWRRQL DHISAHLRCY AQNNPEFRAL IAEPRMGKLI SATVHEDGCE VSIRLNYSQV
SNKNLYLNKA VNFSDHLLSS AAEGDGGLCG SRSSWVSDYS QSTSDTIEKI KRIKNFKTKT
FQEKKEQLIP ENRLLLKEVG PTGEGRVSVI EQLLDEGADP NCCDEDNRPV ITVAVMNKHH
EAIPVLVQRG ADIDQQWGPL RNTALHEATL LGLAGRESTA TLLGCNASIQ KKNAGGQTAY
DLALNTGDDL VTSLFAAKFG QGLEDQLAQT RSLSLDDC*

speed

1.03 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999774993261856 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:18395988C>TN/A show variant in all transcripts IGV

HGNC symbol

DZANK1

Ensembl transcript ID

ENST00000377630

Genbank transcript ID

N/A

UniProt peptide

Q9NVP4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.541G>A
cDNA.1046G>A
g.51842G>A

AA changes

G181S Score: 56 explain score(s)

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

181

frameshift

known variant

Reference ID: rs6035037

database	homozygous (T/T)	heterozygous	allele carriers
1000G	189	873	1062
ExAC	5115	22537	27652

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.489	1
	1.658	0.999
(flanking)	-0.132	0.993

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
Acc marginally increased	51843	wt: 0.5329 / mu: 0.5578 (marginal change - not scored)	wt: CTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTGG mu: CTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTGG	gcgg\|CTGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

181

mutated

not conserved

181

Ptroglodytes

all identical

ENSPTRG00000013285

354

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000006598

268

Mmusculus

not conserved

ENSMUSG00000037259

374

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012074

350

Drerio

not conserved

ENSDARG00000055787

353

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013794

370

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1758 / 1758

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

586 / 586

position of stopcodon in wt / mu cDNA

2263 / 2263

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

506 / 506

chromosome

strand

-1

last intron/exon boundary

2098

theoretical NMD boundary in CDS

1542

length of CDS

1758

coding sequence (CDS) position

541

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

1046

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

51842

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

18395988

original gDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTG

altered gDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTG

original cDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGCTC

altered cDNA sequence snippet

TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGCTC

wildtype AA sequence

MLTLESFQSP GFAHVSGQKC LTSTEIMRIQ RETDFLKCAH CLAPRPSDPF ARFCQECGSP
VPPIFGCRLP PPEGAQMGLC AECRSLVPMN TPICVVCEAP LALQLQPQAS LHLKEKVICR
ACGTGNPAHL RYCVTCEGAL PSSQESMCSG DKAPPPPTQK GGTISCYRCG RWNLWEASFC
GWCGAMLGIP AGCSVCPKCG ASNHLSARFC GSCGICVKSL VKLSLDRSLA LAAEEPRPFS
EPRCAWQSLN IPLPRSDVGT KRDIGTQTVG LFYPSGKLLA KKEQELASQK QRQEKMSDHK
PLLTAISPGR GYWRRQLDHI SAHLRCYAQN NPEFRALIAE PRMGKLISAT VHEDGCEVSI
RLNYSQVSNK NLYLNKAVNF SDHLLSSAAE GDGGLCGSRS SWVSDYSQST SDTIEKIKRI
KNFKTKTFQE KKEQLIPENR LLLKEVGPTG EGRVSVIEQL LDEGADPNCC DEDNRPVITV
AVMNKHHEAI PVLVQRGADI DQQWGPLRNT ALHEATLLGL AGRESTATLL GCNASIQKKN
AGGQTAYDLA LNTGDDLVTS LFAAKFGQGL EDQLAQTRSL SLDDC*

mutated AA sequence

MLTLESFQSP GFAHVSGQKC LTSTEIMRIQ RETDFLKCAH CLAPRPSDPF ARFCQECGSP
VPPIFGCRLP PPEGAQMGLC AECRSLVPMN TPICVVCEAP LALQLQPQAS LHLKEKVICR
ACGTGNPAHL RYCVTCEGAL PSSQESMCSG DKAPPPPTQK GGTISCYRCG RWNLWEASFC
SWCGAMLGIP AGCSVCPKCG ASNHLSARFC GSCGICVKSL VKLSLDRSLA LAAEEPRPFS
EPRCAWQSLN IPLPRSDVGT KRDIGTQTVG LFYPSGKLLA KKEQELASQK QRQEKMSDHK
PLLTAISPGR GYWRRQLDHI SAHLRCYAQN NPEFRALIAE PRMGKLISAT VHEDGCEVSI
RLNYSQVSNK NLYLNKAVNF SDHLLSSAAE GDGGLCGSRS SWVSDYSQST SDTIEKIKRI
KNFKTKTFQE KKEQLIPENR LLLKEVGPTG EGRVSVIEQL LDEGADPNCC DEDNRPVITV
AVMNKHHEAI PVLVQRGADI DQQWGPLRNT ALHEATLLGL AGRESTATLL GCNASIQKKN
AGGQTAYDLA LNTGDDLVTS LFAAKFGQGL EDQLAQTRSL SLDDC*

speed

1.11 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

Problems