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: ENST00000389301
Querying Taster for transcript #2: ENST00000568369
Querying Taster for transcript #3: ENST00000563673
Querying Taster for transcript #4: ENST00000534992
MT speed 0 s - this script 4.437724 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FANCA	polymorphism_automatic	8.80895356658584e-12	simple_aae		affected		T266A	single base exchange	rs7190823		show file
FANCA	polymorphism_automatic	8.80895356658584e-12	simple_aae		affected		T266A	single base exchange	rs7190823		show file
FANCA	polymorphism_automatic	8.80895356658584e-12	simple_aae		affected		T266A	single base exchange	rs7190823		show file
FANCA	polymorphism_automatic	8.80895356658584e-12	simple_aae		affected		T266A	single base exchange	rs7190823		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999991191 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM137879)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:89866043T>CN/A show variant in all transcripts IGV

HGNC symbol

FANCA

Ensembl transcript ID

ENST00000563673

Genbank transcript ID

N/A

UniProt peptide

O15360

alteration type

single base exchange

alteration region

CDS

DNA changes

c.796A>G
cDNA.816A>G
g.17023A>G

AA changes

T266A Score: 58 explain score(s)

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

266

frameshift

known variant

Reference ID: rs7190823

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1301	856	2157
ExAC	18422	-4077	14345

known disease mutation at this position, please check HGMD for details (HGMD ID CM137879)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.827	0.187
	0.329	0.258
(flanking)	0.141	0.372

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	17013	wt: 0.2848 / mu: 0.3080 (marginal change - not scored)	wt: ATGGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGT mu: ATGGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGT	attt\|TGAC
Acc marginally increased	17019	wt: 0.9846 / mu: 0.9886 (marginal change - not scored)	wt: ACTCACATTCTATTTTGACAGGTCACGGTTGATGTACTGCA mu: ACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCA	acag\|GTCA
Acc increased	17016	wt: 0.23 / mu: 0.30	wt: GTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTACT mu: GTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACT	ttga\|CAGG
Acc increased	17015	wt: 0.27 / mu: 0.40	wt: GGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTAC mu: GGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTAC	tttg\|ACAG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

not conserved

ENSPTRG00000008492

203

Mmulatta

not conserved

ENSMMUG00000029067

266

Fcatus

not conserved

ENSFCAG00000003795

262

Mmusculus

not conserved

ENSMUSG00000032815

263

Ggallus

not conserved

ENSGALG00000000516

233

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000033926

179

protein features

start (aa)	end (aa)	feature	details
849	849	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
850	850	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
858	858	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1449	1449	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

951 / 951

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

317 / 317

position of stopcodon in wt / mu cDNA

971 / 971

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

21 / 21

chromosome

strand

-1

last intron/exon boundary

847

theoretical NMD boundary in CDS

776

length of CDS

951

coding sequence (CDS) position

796

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

816

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

17023

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

89866043

original gDNA sequence snippet

ACATTCTATTTTGACAGGTCACGGTTGATGTACTGCAGAGA

altered gDNA sequence snippet

ACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCAGAGA

original cDNA sequence snippet

CTGAAAAAATGCCGCAGGTCACGGTTGATGTACTGCAGAGA

altered cDNA sequence snippet

CTGAAAAAATGCCGCAGGTCGCGGTTGATGTACTGCAGAGA

wildtype AA sequence

mutated AA sequence

speed

0.77 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: 0.999999999991191 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM137879)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:89866043T>CN/A show variant in all transcripts IGV

HGNC symbol

FANCA

Ensembl transcript ID

ENST00000389301

Genbank transcript ID

NM_000135

UniProt peptide

O15360

alteration type

single base exchange

alteration region

CDS

DNA changes

c.796A>G
cDNA.827A>G
g.17023A>G

AA changes

T266A Score: 58 explain score(s)

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

266

frameshift

known variant

Reference ID: rs7190823

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1301	856	2157
ExAC	18422	-4077	14345

known disease mutation at this position, please check HGMD for details (HGMD ID CM137879)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.827	0.187
	0.329	0.258
(flanking)	0.141	0.372

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	17013	wt: 0.2848 / mu: 0.3080 (marginal change - not scored)	wt: ATGGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGT mu: ATGGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGT	attt\|TGAC
Acc marginally increased	17019	wt: 0.9846 / mu: 0.9886 (marginal change - not scored)	wt: ACTCACATTCTATTTTGACAGGTCACGGTTGATGTACTGCA mu: ACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCA	acag\|GTCA
Acc increased	17016	wt: 0.23 / mu: 0.30	wt: GTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTACT mu: GTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACT	ttga\|CAGG
Acc increased	17015	wt: 0.27 / mu: 0.40	wt: GGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTAC mu: GGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTAC	tttg\|ACAG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

not conserved

ENSPTRG00000008492

203

Mmulatta

not conserved

ENSMMUG00000029067

266

Fcatus

not conserved

ENSFCAG00000003795

262

Mmusculus

not conserved

ENSMUSG00000032815

263

Ggallus

not conserved

ENSGALG00000000516

233

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000033926

179

protein features

start (aa)	end (aa)	feature	details
849	849	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
850	850	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
858	858	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1449	1449	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4368 / 4368

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

1456 / 1456

position of stopcodon in wt / mu cDNA

4399 / 4399

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

32 / 32

chromosome

strand

-1

last intron/exon boundary

4292

theoretical NMD boundary in CDS

4210

length of CDS

4368

coding sequence (CDS) position

796

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

827

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

17023

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

89866043

original gDNA sequence snippet

ACATTCTATTTTGACAGGTCACGGTTGATGTACTGCAGAGA

altered gDNA sequence snippet

ACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCAGAGA

original cDNA sequence snippet

CTGAAAAAATGCCGCAGGTCACGGTTGATGTACTGCAGAGA

altered cDNA sequence snippet

CTGAAAAAATGCCGCAGGTCGCGGTTGATGTACTGCAGAGA

wildtype AA sequence

MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL
LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS
VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE
AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ
MFVLRGFQKN SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG
VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR THPLLTSLYR
RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF PEAQQLLEDW VARLMAQAFE
SCQLDSMVTA FLVVRQAALE GPSAFLSYAD WFKASFGSTR GYHGCSKKAL VFLFTFLSEL
VPFESPRYLQ VHILHPPLVP GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI
TEPHSQALQD VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR
VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL GQLTAALGEL
RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS KIQLSINTPR LEPREHMAVD
LLLTSFCQNL MAASSVAPPE RQGPWAALFV RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH
VLGLAALAVH LGESRSALPE VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA
ISYSLCKFSS QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS
ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE RQDFHQWAIH
EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH SENSDLVFGG RTGNEDIISR
LQEMVADLEL QQDLIVPLGH TPSQEHFLFE IFRRRLQALT SGWSVAASLQ RQRELLMYKR
ILLRLPSSVL CGSSFQAEQP ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN
ACLRSRDPSL MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL
QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD CEREELLVFL
FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI SWLALFQLTE SDLRLGRLLL
RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA
GRSLELKGQG NPVELITKAR LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ
QAAPDADLSQ EPHLF*

mutated AA sequence

MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL
LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS
VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE
AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ
MFVLRGFQKN SDLRRTVEPE KMPQVAVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG
VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR THPLLTSLYR
RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF PEAQQLLEDW VARLMAQAFE
SCQLDSMVTA FLVVRQAALE GPSAFLSYAD WFKASFGSTR GYHGCSKKAL VFLFTFLSEL
VPFESPRYLQ VHILHPPLVP GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI
TEPHSQALQD VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR
VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL GQLTAALGEL
RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS KIQLSINTPR LEPREHMAVD
LLLTSFCQNL MAASSVAPPE RQGPWAALFV RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH
VLGLAALAVH LGESRSALPE VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA
ISYSLCKFSS QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS
ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE RQDFHQWAIH
EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH SENSDLVFGG RTGNEDIISR
LQEMVADLEL QQDLIVPLGH TPSQEHFLFE IFRRRLQALT SGWSVAASLQ RQRELLMYKR
ILLRLPSSVL CGSSFQAEQP ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN
ACLRSRDPSL MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL
QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD CEREELLVFL
FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI SWLALFQLTE SDLRLGRLLL
RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA
GRSLELKGQG NPVELITKAR LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ
QAAPDADLSQ EPHLF*

speed

0.70 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999991191 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM137879)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:89866043T>CN/A show variant in all transcripts IGV

HGNC symbol

FANCA

Ensembl transcript ID

ENST00000534992

Genbank transcript ID

N/A

UniProt peptide

O15360

alteration type

single base exchange

alteration region

CDS

DNA changes

c.796A>G
cDNA.836A>G
g.17023A>G

AA changes

T266A Score: 58 explain score(s)

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

266

frameshift

known variant

Reference ID: rs7190823

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1301	856	2157
ExAC	18422	-4077	14345

known disease mutation at this position, please check HGMD for details (HGMD ID CM137879)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.827	0.187
	0.329	0.258
(flanking)	0.141	0.372

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	17013	wt: 0.2848 / mu: 0.3080 (marginal change - not scored)	wt: ATGGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGT mu: ATGGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGT	attt\|TGAC
Acc marginally increased	17019	wt: 0.9846 / mu: 0.9886 (marginal change - not scored)	wt: ACTCACATTCTATTTTGACAGGTCACGGTTGATGTACTGCA mu: ACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCA	acag\|GTCA
Acc increased	17016	wt: 0.23 / mu: 0.30	wt: GTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTACT mu: GTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACT	ttga\|CAGG
Acc increased	17015	wt: 0.27 / mu: 0.40	wt: GGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTAC mu: GGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTAC	tttg\|ACAG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

not conserved

ENSPTRG00000008492

203

Mmulatta

not conserved

ENSMMUG00000029067

266

Fcatus

not conserved

ENSFCAG00000003795

262

Mmusculus

not conserved

ENSMUSG00000032815

263

Ggallus

not conserved

ENSGALG00000000516

233

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000033926

179

protein features

start (aa)	end (aa)	feature	details
849	849	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
850	850	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
858	858	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1449	1449	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

909 / 909

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

303 / 303

position of stopcodon in wt / mu cDNA

949 / 949

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

41 / 41

chromosome

strand

-1

last intron/exon boundary

928

theoretical NMD boundary in CDS

837

length of CDS

909

coding sequence (CDS) position

796

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

836

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

17023

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

89866043

original gDNA sequence snippet

ACATTCTATTTTGACAGGTCACGGTTGATGTACTGCAGAGA

altered gDNA sequence snippet

ACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCAGAGA

original cDNA sequence snippet

CTGAAAAAATGCCGCAGGTCACGGTTGATGTACTGCAGAGA

altered cDNA sequence snippet

CTGAAAAAATGCCGCAGGTCGCGGTTGATGTACTGCAGAGA

wildtype AA sequence

mutated AA sequence

speed

0.68 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999991191 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM137879)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:89866043T>CN/A show variant in all transcripts IGV

HGNC symbol

FANCA

Ensembl transcript ID

ENST00000568369

Genbank transcript ID

N/A

UniProt peptide

O15360

alteration type

single base exchange

alteration region

CDS

DNA changes

c.796A>G
cDNA.827A>G
g.17023A>G

AA changes

T266A Score: 58 explain score(s)

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

266

frameshift

known variant

Reference ID: rs7190823

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1301	856	2157
ExAC	18422	-4077	14345

known disease mutation at this position, please check HGMD for details (HGMD ID CM137879)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.827	0.187
	0.329	0.258
(flanking)	0.141	0.372

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	17013	wt: 0.2848 / mu: 0.3080 (marginal change - not scored)	wt: ATGGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGT mu: ATGGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGT	attt\|TGAC
Acc marginally increased	17019	wt: 0.9846 / mu: 0.9886 (marginal change - not scored)	wt: ACTCACATTCTATTTTGACAGGTCACGGTTGATGTACTGCA mu: ACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCA	acag\|GTCA
Acc increased	17016	wt: 0.23 / mu: 0.30	wt: GTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTACT mu: GTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACT	ttga\|CAGG
Acc increased	17015	wt: 0.27 / mu: 0.40	wt: GGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTAC mu: GGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTAC	tttg\|ACAG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

not conserved

ENSPTRG00000008492

203

Mmulatta

not conserved

ENSMMUG00000029067

266

Fcatus

not conserved

ENSFCAG00000003795

262

Mmusculus

not conserved

ENSMUSG00000032815

263

Ggallus

not conserved

ENSGALG00000000516

233

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000033926

179

protein features

start (aa)	end (aa)	feature	details
849	849	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
850	850	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
858	858	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1449	1449	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4275 / 4275

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

1425 / 1425

position of stopcodon in wt / mu cDNA

4306 / 4306

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

32 / 32

chromosome

strand

-1

last intron/exon boundary

4296

theoretical NMD boundary in CDS

4214

length of CDS

4275

coding sequence (CDS) position

796

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

827

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

17023

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

89866043

original gDNA sequence snippet

ACATTCTATTTTGACAGGTCACGGTTGATGTACTGCAGAGA

altered gDNA sequence snippet

ACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCAGAGA

original cDNA sequence snippet

CTGAAAAAATGCCGCAGGTCACGGTTGATGTACTGCAGAGA

altered cDNA sequence snippet

CTGAAAAAATGCCGCAGGTCGCGGTTGATGTACTGCAGAGA

wildtype AA sequence

mutated AA sequence

MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL
LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS
VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE
AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ
MFVLRGFQKN SDLRRTVEPE KMPQVAVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG
VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR THPLLTSLYR
RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF PEAQQLLEDW VARLMAQAFE
SCQLDSMVTA FLVVRQAALE GPSAFLSYAD WFKASFGSTR GYHGCSKKAL VFLFTFLSEL
VPFESPRYLQ VHILHPPLVP GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI
TEPHSQALQD VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR
VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL GQLTAALGEL
RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS KIQLSINTPR LEPREHMAVD
LLLTSFCQNL MAASSVAPPE RQGPWAALFV RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH
VLGLAALAVH LGESRSALPE VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA
ISYSLCKFSS QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS
ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE RQDFHQWAIH
EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH SENSDLVFGG RTGNEDIISR
LQEMVADLEL QQDLIVPLGH TPSQEHFLFE IFRRRLQALT SGWSVAASLQ RQRELLMYKR
ILLRLPSSVL CGSSFQAEQP ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN
ACLRSRDPSL MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL
QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD CEREELLVFL
FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI SWLALFQLTE SDLRLGRLLL
RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA
GRSLELKGQA GQPRGTDNKS SSFSAAVNTS VPEKELLTRG RAAG*

speed

0.92 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