MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 7 transcript(s)...
Querying Taster for transcript #1: ENST00000533527
Querying Taster for transcript #2: ENST00000524407
Querying Taster for transcript #3: ENST00000301249
Querying Taster for transcript #4: ENST00000391720
Querying Taster for transcript #5: ENST00000527223
Querying Taster for transcript #6: ENST00000391719
Querying Taster for transcript #7: ENST00000455045
MT speed 0 s - this script 7.416647 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DNAAF3	polymorphism_automatic	6.7253285264024e-05	simple_aae				E107G	single base exchange	rs2365725		show file
DNAAF3	polymorphism_automatic	6.7253285264024e-05	simple_aae				E292G	single base exchange	rs2365725		show file
DNAAF3	polymorphism_automatic	6.7253285264024e-05	simple_aae				E313G	single base exchange	rs2365725		show file
DNAAF3	polymorphism_automatic	6.7253285264024e-05	simple_aae				E360G	single base exchange	rs2365725		show file
DNAAF3	polymorphism_automatic	6.7253285264024e-05	simple_aae				E292G	single base exchange	rs2365725		show file
DNAAF3	polymorphism_automatic	6.7253285264024e-05	simple_aae				E339G	single base exchange	rs2365725		show file
DNAAF3	polymorphism_automatic	6.7253285264024e-05	simple_aae				E238G	single base exchange	rs2365725		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999932746714736 (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)

chr19:55672470T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF3

Ensembl transcript ID

ENST00000533527

Genbank transcript ID

N/A

UniProt peptide

Q8N9W5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.320A>G
cDNA.637A>G
g.5621A>G

AA changes

E107G Score: 98 explain score(s)

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

107

frameshift

known variant

Reference ID: rs2365725

database	homozygous (C/C)	heterozygous	allele carriers
1000G	207	726	933
ExAC	377	2333	2710

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Non-Gene Associated, Regulatory Feature, Non-Gene associated regulatory feature
Promoter Associated, Regulatory Feature, Promoter like regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.062	0.617
	0.517	0.566
(flanking)	-1.353	0.498

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

107

mutated

not conserved

107

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000055809

292

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000012980

285

Drerio

all conserved

ENSDARG00000092662

279

Dmelanogaster

all identical

FBgn0034352

291

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1071 / 1071

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

357 / 357

position of stopcodon in wt / mu cDNA

1388 / 1388

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

318 / 318

chromosome

strand

-1

last intron/exon boundary

1001

theoretical NMD boundary in CDS

633

length of CDS

1071

coding sequence (CDS) position

320

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

637

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

5621

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

55672470

original gDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered gDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

original cDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered cDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

wildtype AA sequence

MSRLWDSRLR HYLGSRYDAR RGVSDWDLRM KLHDRGAQVI HPQEFRRWRD TGVAFELRDS
SAYHVPNRTL ASGRLLSYRG ERVAARGYWG DIATGPFVAF GIEADDESLL RTSNGQPVKT
AGEITQHNVT ELLRDVAAWG RARATGGDLE EQQHAEGSPE PGTPAAPTPE SFTVHFLPLD
SAQTLHHKSC YNGRFQLLYV ACGMVHLLIP ELGACVAPGG NLIVELARYL VDVRQEQLQG
FNTRVRELAQ AAGFAPQTGA RPSETFARFC KSQESALGNT VPAVEPGTPP LDILAQPLEA
SNPALEGLTQ PLQGGTPHCE PCQLPSESPG SLSEVLAQPQ GALAPPNCES DSKTGV*

mutated AA sequence

MSRLWDSRLR HYLGSRYDAR RGVSDWDLRM KLHDRGAQVI HPQEFRRWRD TGVAFELRDS
SAYHVPNRTL ASGRLLSYRG ERVAARGYWG DIATGPFVAF GIEADDGSLL RTSNGQPVKT
AGEITQHNVT ELLRDVAAWG RARATGGDLE EQQHAEGSPE PGTPAAPTPE SFTVHFLPLD
SAQTLHHKSC YNGRFQLLYV ACGMVHLLIP ELGACVAPGG NLIVELARYL VDVRQEQLQG
FNTRVRELAQ AAGFAPQTGA RPSETFARFC KSQESALGNT VPAVEPGTPP LDILAQPLEA
SNPALEGLTQ PLQGGTPHCE PCQLPSESPG SLSEVLAQPQ GALAPPNCES DSKTGV*

speed

1.32 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: 0.999932746714736 (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)

chr19:55672470T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF3

Ensembl transcript ID

ENST00000524407

Genbank transcript ID

N/A

UniProt peptide

Q8N9W5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.875A>G
cDNA.909A>G
g.5621A>G

AA changes

E292G Score: 98 explain score(s)

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

292

frameshift

known variant

Reference ID: rs2365725

database	homozygous (C/C)	heterozygous	allele carriers
1000G	207	726	933
ExAC	377	2333	2710

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.062	0.617
	0.517	0.566
(flanking)	-1.353	0.498

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

292

mutated

not conserved

292

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000055809

292

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000012980

284

Drerio

all conserved

ENSDARG00000092662

279

Dmelanogaster

all identical

FBgn0034352

292

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1626 / 1626

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

542 / 542

position of stopcodon in wt / mu cDNA

1660 / 1660

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

35 / 35

chromosome

strand

-1

last intron/exon boundary

1273

theoretical NMD boundary in CDS

1188

length of CDS

1626

coding sequence (CDS) position

875

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

909

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

5621

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

55672470

original gDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered gDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

original cDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered cDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

wildtype AA sequence

MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL LLGSVDGRHL
LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE PEKMGLQERS ETFLEVWGNA
LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ LPWLSLRALK FRERDALEAV FRFWAGGEKG
PQAFPMSRLW DSRLRHYLGS RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF
ELRDSSAYHV PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DESLLRTSNG
QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA APTPESFTVH
FLPLDSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC VAPGGNLIVE LARYLVDVRQ
EQLQGFNTRV RELAQAAGFA PQTGARPSET FARFCKSQES ALGNTVPAVE PGTPPLDILA
QPLEASNPAL EGLTQPLQGG TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG
V*

mutated AA sequence

MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL LLGSVDGRHL
LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE PEKMGLQERS ETFLEVWGNA
LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ LPWLSLRALK FRERDALEAV FRFWAGGEKG
PQAFPMSRLW DSRLRHYLGS RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF
ELRDSSAYHV PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DGSLLRTSNG
QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA APTPESFTVH
FLPLDSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC VAPGGNLIVE LARYLVDVRQ
EQLQGFNTRV RELAQAAGFA PQTGARPSET FARFCKSQES ALGNTVPAVE PGTPPLDILA
QPLEASNPAL EGLTQPLQGG TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG
V*

speed

0.45 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999932746714736 (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)

chr19:55672470T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF3

Ensembl transcript ID

ENST00000301249

Genbank transcript ID

NM_001256714

UniProt peptide

Q8N9W5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.938A>G
cDNA.1081A>G
g.5621A>G

AA changes

E313G Score: 98 explain score(s)

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

313

frameshift

known variant

Reference ID: rs2365725

database	homozygous (C/C)	heterozygous	allele carriers
1000G	207	726	933
ExAC	377	2333	2710

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.062	0.617
	0.517	0.566
(flanking)	-1.353	0.498

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

313

mutated

not conserved

313

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000055809

292

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000012980

284

Drerio

all conserved

ENSDARG00000092662

279

Dmelanogaster

all identical

FBgn0034352

289

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1686 / 1686

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

562 / 562

position of stopcodon in wt / mu cDNA

1829 / 1829

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

144 / 144

chromosome

strand

-1

last intron/exon boundary

1442

theoretical NMD boundary in CDS

1248

length of CDS

1686

coding sequence (CDS) position

938

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

1081

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

5621

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

55672470

original gDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered gDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

original cDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered cDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

wildtype AA sequence

MTTPAGSGSG FGSVSWWGLS PALDLQAERD ATVDALPTTM VPQPAVILPG PPVDPDSQAD
TVHSNPELDV LLLGSVDGRH LLRTLSRAKF WPRRRFNFFV LENNLEAVAR HMLIFSLALE
EPEKMGLQER SETFLEVWGN ALLRPPVAAF VRAQADLLAH LVPEPDRLEE QLPWLSLRAL
KFRERDALEA VFRFWAGGEK GPQAFPMSRL WDSRLRHYLG SRYDARRGVS DWDLRMKLHD
RGAQVIHPQE FRRWRDTGVA FELRDSSAYH VPNRTLASGR LLSYRGERVA ARGYWGDIAT
GPFVAFGIEA DDESLLRTSN GQPVKTAGEI TQHNVTELLR DVAAWGRARA TGGDLEEQQH
AEGSPEPGTP APTPESFTVH FLPLDSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC
VAPGGNLIVE LARYLVDVRQ EQLQGFNTRV RELAQAAGFA PQTGARPSET FARFCKSQES
ALGNTVPAVE PGTPPLDILA QPLEASNPAL EGLTQPLQGG TPHCEPCQLP SESPGSLSEV
LAQPQGALAP PNCESDSKTG V*

mutated AA sequence

MTTPAGSGSG FGSVSWWGLS PALDLQAERD ATVDALPTTM VPQPAVILPG PPVDPDSQAD
TVHSNPELDV LLLGSVDGRH LLRTLSRAKF WPRRRFNFFV LENNLEAVAR HMLIFSLALE
EPEKMGLQER SETFLEVWGN ALLRPPVAAF VRAQADLLAH LVPEPDRLEE QLPWLSLRAL
KFRERDALEA VFRFWAGGEK GPQAFPMSRL WDSRLRHYLG SRYDARRGVS DWDLRMKLHD
RGAQVIHPQE FRRWRDTGVA FELRDSSAYH VPNRTLASGR LLSYRGERVA ARGYWGDIAT
GPFVAFGIEA DDGSLLRTSN GQPVKTAGEI TQHNVTELLR DVAAWGRARA TGGDLEEQQH
AEGSPEPGTP APTPESFTVH FLPLDSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC
VAPGGNLIVE LARYLVDVRQ EQLQGFNTRV RELAQAAGFA PQTGARPSET FARFCKSQES
ALGNTVPAVE PGTPPLDILA QPLEASNPAL EGLTQPLQGG TPHCEPCQLP SESPGSLSEV
LAQPQGALAP PNCESDSKTG V*

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999932746714736 (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)

chr19:55672470T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF3

Ensembl transcript ID

ENST00000527223

Genbank transcript ID

NM_001256714

UniProt peptide

Q8N9W5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1079A>G
cDNA.1081A>G
g.5621A>G

AA changes

E360G Score: 98 explain score(s)

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

360

frameshift

known variant

Reference ID: rs2365725

database	homozygous (C/C)	heterozygous	allele carriers
1000G	207	726	933
ExAC	377	2333	2710

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.062	0.617
	0.517	0.566
(flanking)	-1.353	0.498

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

360

mutated

not conserved

360

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000055809

292

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000012980

284

Drerio

all conserved

ENSDARG00000092662

279

Dmelanogaster

all identical

FBgn0034352

289

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1827 / 1827

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

609 / 609

position of stopcodon in wt / mu cDNA

1829 / 1829

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

3 / 3

chromosome

strand

-1

last intron/exon boundary

1442

theoretical NMD boundary in CDS

1389

length of CDS

1827

coding sequence (CDS) position

1079

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

1081

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

5621

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

55672470

original gDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered gDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

original cDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered cDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

wildtype AA sequence

MLPLLDSSKR AGTLGSGCGV PRVHSAALSR EEGASRDIWR IKVWARVMTT PAGSGSGFGS
VSWWGLSPAL DLQAERDATV DALPTTMVPQ PAVILPGPPV DPDSQADTVH SNPELDVLLL
GSVDGRHLLR TLSRAKFWPR RRFNFFVLEN NLEAVARHML IFSLALEEPE KMGLQERSET
FLEVWGNALL RPPVAAFVRA QADLLAHLVP EPDRLEEQLP WLSLRALKFR ERDALEAVFR
FWAGGEKGPQ AFPMSRLWDS RLRHYLGSRY DARRGVSDWD LRMKLHDRGA QVIHPQEFRR
WRDTGVAFEL RDSSAYHVPN RTLASGRLLS YRGERVAARG YWGDIATGPF VAFGIEADDE
SLLRTSNGQP VKTAGEITQH NVTELLRDVA AWGRARATGG DLEEQQHAEG SPEPGTPAPT
PESFTVHFLP LDSAQTLHHK SCYNGRFQLL YVACGMVHLL IPELGACVAP GGNLIVELAR
YLVDVRQEQL QGFNTRVREL AQAAGFAPQT GARPSETFAR FCKSQESALG NTVPAVEPGT
PPLDILAQPL EASNPALEGL TQPLQGGTPH CEPCQLPSES PGSLSEVLAQ PQGALAPPNC
ESDSKTGV*

mutated AA sequence

MLPLLDSSKR AGTLGSGCGV PRVHSAALSR EEGASRDIWR IKVWARVMTT PAGSGSGFGS
VSWWGLSPAL DLQAERDATV DALPTTMVPQ PAVILPGPPV DPDSQADTVH SNPELDVLLL
GSVDGRHLLR TLSRAKFWPR RRFNFFVLEN NLEAVARHML IFSLALEEPE KMGLQERSET
FLEVWGNALL RPPVAAFVRA QADLLAHLVP EPDRLEEQLP WLSLRALKFR ERDALEAVFR
FWAGGEKGPQ AFPMSRLWDS RLRHYLGSRY DARRGVSDWD LRMKLHDRGA QVIHPQEFRR
WRDTGVAFEL RDSSAYHVPN RTLASGRLLS YRGERVAARG YWGDIATGPF VAFGIEADDG
SLLRTSNGQP VKTAGEITQH NVTELLRDVA AWGRARATGG DLEEQQHAEG SPEPGTPAPT
PESFTVHFLP LDSAQTLHHK SCYNGRFQLL YVACGMVHLL IPELGACVAP GGNLIVELAR
YLVDVRQEQL QGFNTRVREL AQAAGFAPQT GARPSETFAR FCKSQESALG NTVPAVEPGT
PPLDILAQPL EASNPALEGL TQPLQGGTPH CEPCQLPSES PGSLSEVLAQ PQGALAPPNC
ESDSKTGV*

speed

1.31 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999932746714736 (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)

chr19:55672470T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF3

Ensembl transcript ID

ENST00000391720

Genbank transcript ID

NM_001256715

UniProt peptide

Q8N9W5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.875A>G
cDNA.1019A>G
g.5621A>G

AA changes

E292G Score: 98 explain score(s)

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

292

frameshift

known variant

Reference ID: rs2365725

database	homozygous (C/C)	heterozygous	allele carriers
1000G	207	726	933
ExAC	377	2333	2710

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.062	0.617
	0.517	0.566
(flanking)	-1.353	0.498

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

292

mutated

not conserved

292

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000055809

292

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000012980

284

Drerio

all conserved

ENSDARG00000092662

279

Dmelanogaster

all identical

FBgn0034352

292

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1626 / 1626

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

542 / 542

position of stopcodon in wt / mu cDNA

1770 / 1770

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

145 / 145

chromosome

strand

-1

last intron/exon boundary

1383

theoretical NMD boundary in CDS

1188

length of CDS

1626

coding sequence (CDS) position

875

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

1019

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

5621

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

55672470

original gDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered gDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

original cDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered cDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

wildtype AA sequence

mutated AA sequence

MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL LLGSVDGRHL
LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE PEKMGLQERS ETFLEVWGNA
LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ LPWLSLRALK FRERDALEAV FRFWAGGEKG
PQAFPMSRLW DSRLRHYLGS RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF
ELRDSSAYHV PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DGSLLRTSNG
QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA APTPESFTVH
FLPLDSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC VAPGGNLIVE LARYLVDVRQ
EQLQGFNTRV RELAQAAGFA PQTGARPSET FARFCKSQES ALGNTVPAVE PGTPPLDILA
QPLEASNPAL EGLTQPLQGG TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG
V*

speed

0.94 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999932746714736 (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)

chr19:55672470T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF3

Ensembl transcript ID

ENST00000391719

Genbank transcript ID

NM_178837

UniProt peptide

Q8N9W5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1016A>G
cDNA.1018A>G
g.5621A>G

AA changes

E339G Score: 98 explain score(s)

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

339

frameshift

known variant

Reference ID: rs2365725

database	homozygous (C/C)	heterozygous	allele carriers
1000G	207	726	933
ExAC	377	2333	2710

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.062	0.617
	0.517	0.566
(flanking)	-1.353	0.498

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

339

mutated

not conserved

339

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000055809

292

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000012980

284

Drerio

all conserved

ENSDARG00000092662

279

Dmelanogaster

all identical

FBgn0034352

292

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1767 / 1767

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

589 / 589

position of stopcodon in wt / mu cDNA

1769 / 1769

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

3 / 3

chromosome

strand

-1

last intron/exon boundary

1382

theoretical NMD boundary in CDS

1329

length of CDS

1767

coding sequence (CDS) position

1016

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

1018

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

5621

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

55672470

original gDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered gDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

original cDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered cDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

wildtype AA sequence

MLPLLDSSKR AGTLGSGCGV PRVHSAALSR EEGASRDIWR IKVWARVMTT PAGSGSGFGS
VSWWGLSPAL DLQAESPPVD PDSQADTVHS NPELDVLLLG SVDGRHLLRT LSRAKFWPRR
RFNFFVLENN LEAVARHMLI FSLALEEPEK MGLQERSETF LEVWGNALLR PPVAAFVRAQ
ADLLAHLVPE PDRLEEQLPW LSLRALKFRE RDALEAVFRF WAGGEKGPQA FPMSRLWDSR
LRHYLGSRYD ARRGVSDWDL RMKLHDRGAQ VIHPQEFRRW RDTGVAFELR DSSAYHVPNR
TLASGRLLSY RGERVAARGY WGDIATGPFV AFGIEADDES LLRTSNGQPV KTAGEITQHN
VTELLRDVAA WGRARATGGD LEEQQHAEGS PEPGTPAAPT PESFTVHFLP LDSAQTLHHK
SCYNGRFQLL YVACGMVHLL IPELGACVAP GGNLIVELAR YLVDVRQEQL QGFNTRVREL
AQAAGFAPQT GARPSETFAR FCKSQESALG NTVPAVEPGT PPLDILAQPL EASNPALEGL
TQPLQGGTPH CEPCQLPSES PGSLSEVLAQ PQGALAPPNC ESDSKTGV*

mutated AA sequence

MLPLLDSSKR AGTLGSGCGV PRVHSAALSR EEGASRDIWR IKVWARVMTT PAGSGSGFGS
VSWWGLSPAL DLQAESPPVD PDSQADTVHS NPELDVLLLG SVDGRHLLRT LSRAKFWPRR
RFNFFVLENN LEAVARHMLI FSLALEEPEK MGLQERSETF LEVWGNALLR PPVAAFVRAQ
ADLLAHLVPE PDRLEEQLPW LSLRALKFRE RDALEAVFRF WAGGEKGPQA FPMSRLWDSR
LRHYLGSRYD ARRGVSDWDL RMKLHDRGAQ VIHPQEFRRW RDTGVAFELR DSSAYHVPNR
TLASGRLLSY RGERVAARGY WGDIATGPFV AFGIEADDGS LLRTSNGQPV KTAGEITQHN
VTELLRDVAA WGRARATGGD LEEQQHAEGS PEPGTPAAPT PESFTVHFLP LDSAQTLHHK
SCYNGRFQLL YVACGMVHLL IPELGACVAP GGNLIVELAR YLVDVRQEQL QGFNTRVREL
AQAAGFAPQT GARPSETFAR FCKSQESALG NTVPAVEPGT PPLDILAQPL EASNPALEGL
TQPLQGGTPH CEPCQLPSES PGSLSEVLAQ PQGALAPPNC ESDSKTGV*

speed

0.98 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999932746714736 (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)

chr19:55672470T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF3

Ensembl transcript ID

ENST00000455045

Genbank transcript ID

N/A

UniProt peptide

Q8N9W5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.713A>G
cDNA.713A>G
g.5621A>G

AA changes

E238G Score: 98 explain score(s)

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

238

frameshift

known variant

Reference ID: rs2365725

database	homozygous (C/C)	heterozygous	allele carriers
1000G	207	726	933
ExAC	377	2333	2710

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.062	0.617
	0.517	0.566
(flanking)	-1.353	0.498

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

238

mutated

not conserved

238

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000055809

292

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000012980

284

Drerio

all conserved

ENSDARG00000092662

279

Dmelanogaster

all identical

FBgn0034352

291

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1464 / 1464

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

488 / 488

position of stopcodon in wt / mu cDNA

1464 / 1464

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

-1

last intron/exon boundary

1077

theoretical NMD boundary in CDS

1026

length of CDS

1464

coding sequence (CDS) position

713

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

713

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

5621

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

55672470

original gDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered gDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

original cDNA sequence snippet

CGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCA

altered cDNA sequence snippet

CGGCATCGAAGCGGACGACGGGAGCCTCCTGCGGACGAGCA

wildtype AA sequence

MKMRAQIPES LREEGIEILK PQFFVLENNL EAVARHMLIF SLALEEPEKM GLQERSETFL
EVWGNALLRP PVAAFVRAQA DLLAHLVPEP DRLEEQLPWL SLRALKFRER DALEAVFRFW
AGGEKGPQAF PMSRLWDSRL RHYLGSRYDA RRGVSDWDLR MKLHDRGAQV IHPQEFRRWR
DTGVAFELRD SSAYHVPNRT LASGRLLSYR GERVAARGYW GDIATGPFVA FGIEADDESL
LRTSNGQPVK TAGEITQHNV TELLRDVAAW GRARATGGDL EEQQHAEGSP EPGTPAAPTP
ESFTVHFLPL DSAQTLHHKS CYNGRFQLLY VACGMVHLLI PELGACVAPG GNLIVELARY
LVDVRQEQLQ GFNTRVRELA QAAGFAPQTG ARPSETFARF CKSQESALGN TVPAVEPGTP
PLDILAQPLE ASNPALEGLT QPLQGGTPHC EPCQLPSESP GSLSEVLAQP QGALAPPNCE
SDSKTGV*

mutated AA sequence

MKMRAQIPES LREEGIEILK PQFFVLENNL EAVARHMLIF SLALEEPEKM GLQERSETFL
EVWGNALLRP PVAAFVRAQA DLLAHLVPEP DRLEEQLPWL SLRALKFRER DALEAVFRFW
AGGEKGPQAF PMSRLWDSRL RHYLGSRYDA RRGVSDWDLR MKLHDRGAQV IHPQEFRRWR
DTGVAFELRD SSAYHVPNRT LASGRLLSYR GERVAARGYW GDIATGPFVA FGIEADDGSL
LRTSNGQPVK TAGEITQHNV TELLRDVAAW GRARATGGDL EEQQHAEGSP EPGTPAAPTP
ESFTVHFLPL DSAQTLHHKS CYNGRFQLLY VACGMVHLLI PELGACVAPG GNLIVELARY
LVDVRQEQLQ GFNTRVRELA QAAGFAPQTG ARPSETFARF CKSQESALGN TVPAVEPGTP
PLDILAQPLE ASNPALEGLT QPLQGGTPHC EPCQLPSESP GSLSEVLAQP QGALAPPNCE
SDSKTGV*

speed

1.25 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

mutation t@sting

Prediction

polymorphism

Problems