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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000370841
Querying Taster for transcript #2: ENST00000370834
Querying Taster for transcript #3: ENST00000420607
Querying Taster for transcript #4: ENST00000541113
Querying Taster for transcript #5: ENST00000543667
MT speed 0 s - this script 6.241499 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ACADM	disease_causing_automatic	0.999999999503485	simple_aae			0	T154I	single base exchange	rs121434283		show file
ACADM	disease_causing_automatic	0.999999999503485	simple_aae			0	T85I	single base exchange	rs121434283		show file
ACADM	disease_causing_automatic	0.999999999918531	simple_aae			0	T121I	single base exchange	rs121434283		show file
ACADM	disease_causing_automatic	0.999999999918531	simple_aae			0	T125I	single base exchange	rs121434283		show file
ACADM	disease_causing_automatic	1	without_aae			0		single base exchange	rs121434283		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999503485 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012321)
known disease mutation: rs3599 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:76199288C>TN/A show variant in all transcripts IGV

HGNC symbol

ACADM

Ensembl transcript ID

ENST00000370834

Genbank transcript ID

N/A

UniProt peptide

P11310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.461C>T
cDNA.540C>T
g.9253C>T

AA changes

T154I Score: 89 explain score(s)

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

154

frameshift

known variant

Reference ID: rs121434283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs3599 (pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012321)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012321)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012321)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.034	1
	6.097	1
(flanking)	-0.258	0.952

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

154

mutated

not conserved

154

Ptroglodytes

all identical

ENSPTRG00000000871

129

Mmulatta

all identical

ENSMMUG00000007220

154

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000062908

129

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000007137

150

Drerio

all identical

ENSDARG00000038900

159

Dmelanogaster

all identical

FBgn0035811

117

Celegans

not conserved

T08G2.3

141

Xtropicalis

all identical

ENSXETG00000002983

130

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1365 / 1365

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

455 / 455

position of stopcodon in wt / mu cDNA

1444 / 1444

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

80 / 80

chromosome

strand

last intron/exon boundary

1373

theoretical NMD boundary in CDS

1243

length of CDS

1365

coding sequence (CDS) position

461

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

540

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

9253

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

76199288

original gDNA sequence snippet

TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT

altered gDNA sequence snippet

TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT

original cDNA sequence snippet

TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT

altered cDNA sequence snippet

TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT

wildtype AA sequence

MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCDYSVC PLLEACTLYL DAFFLLLTGS
NLNLHLNLGG LGLGTFDACL ISEELAYGCT GVQTAIEGNS LGQMPIIIAG NDQQKKKYLG
RMTEEPLMCA YCVTEPGAGS DVAGIKTKAE KKGDEYIING QKMWITNGGK ANWYFLLARS
DPDPKAPANK AFTGFIVEAD TPGIQIGRKE LNMGQRCSDT RGIVFEDVKV PKENVLIGDG
AGFKVAMGAF DKTRPVVAAG AVGLAQRALD EATKYALERK TFGKLLVEHQ AISFMLAEMA
MKVELARMSY QRAAWEVDSG RRNTYYASIA KAFAGDIANQ LATDAVQILG GNGFNTEYPV
EKLMRDAKIY QIYEGTSQIQ RLIVAREHID KYKN*

mutated AA sequence

MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCDYSVC PLLEACTLYL DAFFLLLTGS
NLNLHLNLGG LGLGTFDACL ISEELAYGCT GVQIAIEGNS LGQMPIIIAG NDQQKKKYLG
RMTEEPLMCA YCVTEPGAGS DVAGIKTKAE KKGDEYIING QKMWITNGGK ANWYFLLARS
DPDPKAPANK AFTGFIVEAD TPGIQIGRKE LNMGQRCSDT RGIVFEDVKV PKENVLIGDG
AGFKVAMGAF DKTRPVVAAG AVGLAQRALD EATKYALERK TFGKLLVEHQ AISFMLAEMA
MKVELARMSY QRAAWEVDSG RRNTYYASIA KAFAGDIANQ LATDAVQILG GNGFNTEYPV
EKLMRDAKIY QIYEGTSQIQ RLIVAREHID KYKN*

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

disease causing

Model: simple_aae, prob: 0.999999999503485 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012321)
known disease mutation: rs3599 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:76199288C>TN/A show variant in all transcripts IGV

HGNC symbol

ACADM

Ensembl transcript ID

ENST00000541113

Genbank transcript ID

N/A

UniProt peptide

P11310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.254C>T
cDNA.307C>T
g.9253C>T

AA changes

T85I Score: 89 explain score(s)

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

frameshift

known variant

Reference ID: rs121434283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.034	1
	6.097	1
(flanking)	-0.258	0.952

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

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000000871

121

Mmulatta

all identical

ENSMMUG00000007220

124

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000062908

121

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000007137

126

Drerio

all identical

ENSDARG00000038900

126

Dmelanogaster

all identical

FBgn0035811

117

Celegans

not conserved

T08G2.3

111

Xtropicalis

all identical

ENSXETG00000002983

126

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1158 / 1158

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

386 / 386

position of stopcodon in wt / mu cDNA

1211 / 1211

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

54 / 54

chromosome

strand

last intron/exon boundary

1140

theoretical NMD boundary in CDS

1036

length of CDS

1158

coding sequence (CDS) position

254

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

307

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

9253

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

76199288

original gDNA sequence snippet

TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT

altered gDNA sequence snippet

TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT

original cDNA sequence snippet

TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT

altered cDNA sequence snippet

TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT

wildtype AA sequence

MLQEFTEQQK EFQATARKFA REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG
GLGLGTFDAC LISEELAYGC TGVQTAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC
AYCVTEPGAG SDVAGIKTKA EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN
KAFTGFIVEA DTPGIQIGRK ELNMGQRCSD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA
FDKTRPVVAA GAVGLAQRAL DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS
YQRAAWEVDS GRRNTYYASI AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI
YQIYEGTSQI QRLIVAREHI DKYKN*

mutated AA sequence

MLQEFTEQQK EFQATARKFA REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG
GLGLGTFDAC LISEELAYGC TGVQIAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC
AYCVTEPGAG SDVAGIKTKA EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN
KAFTGFIVEA DTPGIQIGRK ELNMGQRCSD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA
FDKTRPVVAA GAVGLAQRAL DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS
YQRAAWEVDS GRRNTYYASI AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI
YQIYEGTSQI QRLIVAREHI DKYKN*

speed

1.35 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999918531 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012321)
known disease mutation: rs3599 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:76199288C>TN/A show variant in all transcripts IGV

HGNC symbol

ACADM

Ensembl transcript ID

ENST00000370841

Genbank transcript ID

NM_000016

UniProt peptide

P11310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.362C>T
cDNA.799C>T
g.9253C>T

AA changes

T121I Score: 89 explain score(s)

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

121

frameshift

known variant

Reference ID: rs121434283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.034	1
	6.097	1
(flanking)	-0.258	0.952

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

121

mutated

not conserved

121

Ptroglodytes

all identical

ENSPTRG00000000871

121

Mmulatta

all identical

ENSMMUG00000007220

145

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000062908

121

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000007137

150

Drerio

all identical

ENSDARG00000038900

126

Dmelanogaster

all identical

FBgn0035811

117

Celegans

not conserved

T08G2.3

111

Xtropicalis

all identical

ENSXETG00000002983

126

protein features

start (aa)	end (aa)	feature	details
117	129	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1266 / 1266

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

422 / 422

position of stopcodon in wt / mu cDNA

1703 / 1703

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

438 / 438

chromosome

strand

last intron/exon boundary

1632

theoretical NMD boundary in CDS

1144

length of CDS

1266

coding sequence (CDS) position

362

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

799

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

9253

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

76199288

original gDNA sequence snippet

TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT

altered gDNA sequence snippet

TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT

original cDNA sequence snippet

TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT

altered cDNA sequence snippet

TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT

wildtype AA sequence

MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCGGLGL GTFDACLISE ELAYGCTGVQ
TAIEGNSLGQ MPIIIAGNDQ QKKKYLGRMT EEPLMCAYCV TEPGAGSDVA GIKTKAEKKG
DEYIINGQKM WITNGGKANW YFLLARSDPD PKAPANKAFT GFIVEADTPG IQIGRKELNM
GQRCSDTRGI VFEDVKVPKE NVLIGDGAGF KVAMGAFDKT RPVVAAGAVG LAQRALDEAT
KYALERKTFG KLLVEHQAIS FMLAEMAMKV ELARMSYQRA AWEVDSGRRN TYYASIAKAF
AGDIANQLAT DAVQILGGNG FNTEYPVEKL MRDAKIYQIY EGTSQIQRLI VAREHIDKYK
N*

mutated AA sequence

MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCGGLGL GTFDACLISE ELAYGCTGVQ
IAIEGNSLGQ MPIIIAGNDQ QKKKYLGRMT EEPLMCAYCV TEPGAGSDVA GIKTKAEKKG
DEYIINGQKM WITNGGKANW YFLLARSDPD PKAPANKAFT GFIVEADTPG IQIGRKELNM
GQRCSDTRGI VFEDVKVPKE NVLIGDGAGF KVAMGAFDKT RPVVAAGAVG LAQRALDEAT
KYALERKTFG KLLVEHQAIS FMLAEMAMKV ELARMSYQRA AWEVDSGRRN TYYASIAKAF
AGDIANQLAT DAVQILGGNG FNTEYPVEKL MRDAKIYQIY EGTSQIQRLI VAREHIDKYK
N*

speed

1.00 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999918531 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012321)
known disease mutation: rs3599 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:76199288C>TN/A show variant in all transcripts IGV

HGNC symbol

ACADM

Ensembl transcript ID

ENST00000420607

Genbank transcript ID

NM_001127328

UniProt peptide

P11310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.374C>T
cDNA.382C>T
g.9253C>T

AA changes

T125I Score: 89 explain score(s)

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

125

frameshift

known variant

Reference ID: rs121434283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.034	1
	6.097	1
(flanking)	-0.258	0.952

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

125

mutated

not conserved

125

Ptroglodytes

all identical

ENSPTRG00000000871

121

Mmulatta

all identical

ENSMMUG00000007220

141

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000062908

121

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000007137

150

Drerio

all identical

ENSDARG00000038900

126

Dmelanogaster

all identical

FBgn0035811

117

Celegans

not conserved

T08G2.3

111

Xtropicalis

all identical

ENSXETG00000002983

126

protein features

start (aa)	end (aa)	feature	details
117	129	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1278 / 1278

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

426 / 426

position of stopcodon in wt / mu cDNA

1286 / 1286

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

9 / 9

chromosome

strand

last intron/exon boundary

1215

theoretical NMD boundary in CDS

1156

length of CDS

1278

coding sequence (CDS) position

374

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

382

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

9253

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

76199288

original gDNA sequence snippet

TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT

altered gDNA sequence snippet

TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT

original cDNA sequence snippet

TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT

altered cDNA sequence snippet

TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT

wildtype AA sequence

MAAGFGRCCR CSLQVLRSIS RFHWRSQHTK ANRQREPGLG FSFEFTEQQK EFQATARKFA
REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG GLGLGTFDAC LISEELAYGC
TGVQTAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC AYCVTEPGAG SDVAGIKTKA
EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN KAFTGFIVEA DTPGIQIGRK
ELNMGQRCSD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA FDKTRPVVAA GAVGLAQRAL
DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS YQRAAWEVDS GRRNTYYASI
AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI YQIYEGTSQI QRLIVAREHI
DKYKN*

mutated AA sequence

MAAGFGRCCR CSLQVLRSIS RFHWRSQHTK ANRQREPGLG FSFEFTEQQK EFQATARKFA
REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG GLGLGTFDAC LISEELAYGC
TGVQIAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC AYCVTEPGAG SDVAGIKTKA
EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN KAFTGFIVEA DTPGIQIGRK
ELNMGQRCSD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA FDKTRPVVAA GAVGLAQRAL
DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS YQRAAWEVDS GRRNTYYASI
AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI YQIYEGTSQI QRLIVAREHI
DKYKN*

speed

1.08 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM012321)
known disease mutation: rs3599 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:76199288C>TN/A show variant in all transcripts IGV

HGNC symbol

ACADM

Ensembl transcript ID

ENST00000543667

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9253C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121434283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.034	1
	6.097	1
(flanking)	-0.258	0.952

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

681

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

319 / 319

chromosome

strand

last intron/exon boundary

946

theoretical NMD boundary in CDS

577

length of CDS

699

coding sequence (CDS) position

N/A

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

N/A

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

9253

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

76199288

original gDNA sequence snippet

TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT

altered gDNA sequence snippet

TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MWITNGGKAN WYFLLARSDP DPKAPANKAF TGFIVEADTP GIQIGRKELN MGQRCSDTRG
IVFEDVKVPK ENVLIGDGAG FKVAMGAFDK TRPVVAAGAV GLAQRALDEA TKYALERKTF
GKLLVEHQAI SFMLAEMAMK VELARMSYQR AAWEVDSGRR NTYYASIAKA FAGDIANQLA
TDAVQILGGN GFNTEYPVEK LMRDAKIYQI YEGTSQIQRL IVAREHIDKY KN*

mutated AA sequence

N/A

speed

0.80 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems