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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000261699
Querying Taster for transcript #2: ENST00000267436
Querying Taster for transcript #3: ENST00000421284
Querying Taster for transcript #4: ENST00000557131
Querying Taster for transcript #5: ENST00000555423
Querying Taster for transcript #6: ENST00000555610
MT speed 0 s - this script 5.646521 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
L2HGDH	polymorphism_automatic	0	simple_aae				L18R	single base exchange	rs2275591		show file
L2HGDH	polymorphism_automatic	0	simple_aae				L18R	single base exchange	rs2275591		show file
L2HGDH	polymorphism_automatic	0	simple_aae				L18R	single base exchange	rs2275591		show file
L2HGDH	polymorphism_automatic	0	simple_aae				L18R	single base exchange	rs2275591		show file
L2HGDH	polymorphism_automatic	0	simple_aae				L18R	single base exchange	rs2275591		show file
L2HGDH	polymorphism_automatic	0	simple_aae				L18R	single base exchange	rs2275591		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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)

chr14:50778816A>CN/A show variant in all transcripts IGV

HGNC symbol

L2HGDH

Ensembl transcript ID

ENST00000261699

Genbank transcript ID

N/A

UniProt peptide

Q9H9P8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53T>G
cDNA.71T>G
g.451T>G

AA changes

L18R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs2275591

database	homozygous (C/C)	heterozygous	allele carriers
1000G	827	1214	2041
ExAC	16174	419	16593

regulatory features

Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
CTCF, Transcription Factor, CCCTC-binding factor
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
USF1, Transcription Factor, USF1 Transcription Factor Binding
ZEB1, Transcription Factor, ZEB1 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.249	0
	-0.759	0
(flanking)	-0.543	0

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

not conserved

ENSPTRG00000006329

Mmulatta

not conserved

ENSMMUG00000007468

Fcatus

not conserved

ENSFCAG00000002707

Mmusculus

not conserved

ENSMUSG00000020988

Ggallus

not conserved

ENSGALG00000012282

Trubripes

no alignment

ENSTRUG00000009830

n/a

Drerio

not conserved

ENSDARG00000060500

Dmelanogaster

no alignment

FBgn0032729

n/a

Celegans

no alignment

Y45G12B.3

n/a

Xtropicalis

no alignment

ENSXETG00000019714

n/a

protein features

start (aa)	end (aa)	feature	details
1	51	TRANSIT	Mitochondrion (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1326 / 1326

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

442 / 442

position of stopcodon in wt / mu cDNA

1344 / 1344

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

19 / 19

chromosome

strand

-1

last intron/exon boundary

1215

theoretical NMD boundary in CDS

1146

length of CDS

1326

coding sequence (CDS) position

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

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

451

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

50778816

original gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

original cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

wildtype AA sequence

MVPALRYLVG ACGRARGLFA GGSPGACGFA SGRPRPLCGG SRSASTSSFD IVIVGGGIVG
LASARALILR HPSLSIGVLE KEKDLAVHQT GHNSGVIHSG IYYKPESLKA KLCVQGAALL
YEYCQQKGIS YKQCGKLIVA VEQEEIPRLQ ALYEKGLQNG VPGLRLIQQE DIKKKEPYCR
GLMAIDCPHT GIVDYRQVAL SFAQDFQEAG GSVLTNFEVK GIEMAKESPS RSIDGMQYPI
VIKNTKGEEI RCQYVVTCAG LYSDRISELS GCTPDPRIVP FRGDYLLLKP EKCYLVKGNI
YPVPDSRFPF LGVHFTPRMD GSIWLGPNAV LAFKREGYRP FDFSATDVMD IIINSGLIKL
ASQNFSYGVT EMYKACFLGA TVKYLQKFIP EITISDILRQ VAVRGPSWLW QQPMKVSDNN
IYCFLWRCFA LLLTGSACSF K*

mutated AA sequence

MVPALRYLVG ACGRARGRFA GGSPGACGFA SGRPRPLCGG SRSASTSSFD IVIVGGGIVG
LASARALILR HPSLSIGVLE KEKDLAVHQT GHNSGVIHSG IYYKPESLKA KLCVQGAALL
YEYCQQKGIS YKQCGKLIVA VEQEEIPRLQ ALYEKGLQNG VPGLRLIQQE DIKKKEPYCR
GLMAIDCPHT GIVDYRQVAL SFAQDFQEAG GSVLTNFEVK GIEMAKESPS RSIDGMQYPI
VIKNTKGEEI RCQYVVTCAG LYSDRISELS GCTPDPRIVP FRGDYLLLKP EKCYLVKGNI
YPVPDSRFPF LGVHFTPRMD GSIWLGPNAV LAFKREGYRP FDFSATDVMD IIINSGLIKL
ASQNFSYGVT EMYKACFLGA TVKYLQKFIP EITISDILRQ VAVRGPSWLW QQPMKVSDNN
IYCFLWRCFA LLLTGSACSF K*

speed

1.04 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: 1 (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)

chr14:50778816A>CN/A show variant in all transcripts IGV

HGNC symbol

L2HGDH

Ensembl transcript ID

ENST00000267436

Genbank transcript ID

NM_024884

UniProt peptide

Q9H9P8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53T>G
cDNA.451T>G
g.451T>G

AA changes

L18R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs2275591

database	homozygous (C/C)	heterozygous	allele carriers
1000G	827	1214	2041
ExAC	16174	419	16593

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.249	0
	-0.759	0
(flanking)	-0.543	0

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

not conserved

ENSPTRG00000006329

Mmulatta

not conserved

ENSMMUG00000007468

Fcatus

not conserved

ENSFCAG00000002707

Mmusculus

not conserved

ENSMUSG00000020988

Ggallus

not conserved

ENSGALG00000012282

Trubripes

no alignment

ENSTRUG00000009830

n/a

Drerio

not conserved

ENSDARG00000060500

Dmelanogaster

no alignment

FBgn0032729

n/a

Celegans

no alignment

Y45G12B.3

n/a

Xtropicalis

no alignment

ENSXETG00000019714

n/a

protein features

start (aa)	end (aa)	feature	details
1	51	TRANSIT	Mitochondrion (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1392 / 1392

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

464 / 464

position of stopcodon in wt / mu cDNA

1790 / 1790

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

399 / 399

chromosome

strand

-1

last intron/exon boundary

1595

theoretical NMD boundary in CDS

1146

length of CDS

1392

coding sequence (CDS) position

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

451

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

451

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

50778816

original gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

original cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

wildtype AA sequence

mutated AA sequence

speed

1.04 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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)

chr14:50778816A>CN/A show variant in all transcripts IGV

HGNC symbol

L2HGDH

Ensembl transcript ID

ENST00000421284

Genbank transcript ID

N/A

UniProt peptide

Q9H9P8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53T>G
cDNA.132T>G
g.451T>G

AA changes

L18R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs2275591

database	homozygous (C/C)	heterozygous	allele carriers
1000G	827	1214	2041
ExAC	16174	419	16593

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.249	0
	-0.759	0
(flanking)	-0.543	0

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

not conserved

ENSPTRG00000006329

Mmulatta

not conserved

ENSMMUG00000007468

Fcatus

not conserved

ENSFCAG00000002707

Mmusculus

not conserved

ENSMUSG00000020988

Ggallus

not conserved

ENSGALG00000012282

Trubripes

no alignment

ENSTRUG00000009830

n/a

Drerio

not conserved

ENSDARG00000060500

Dmelanogaster

no alignment

FBgn0032729

n/a

Celegans

no alignment

Y45G12B.3

n/a

Xtropicalis

no alignment

ENSXETG00000019714

n/a

protein features

start (aa)	end (aa)	feature	details
1	51	TRANSIT	Mitochondrion (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1392 / 1392

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

464 / 464

position of stopcodon in wt / mu cDNA

1471 / 1471

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

-1

last intron/exon boundary

1489

theoretical NMD boundary in CDS

1359

length of CDS

1392

coding sequence (CDS) position

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

132

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

451

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

50778816

original gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

original cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

wildtype AA sequence

mutated AA sequence

speed

1.05 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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)

chr14:50778816A>CN/A show variant in all transcripts IGV

HGNC symbol

L2HGDH

Ensembl transcript ID

ENST00000557131

Genbank transcript ID

N/A

UniProt peptide

Q9H9P8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53T>G
cDNA.187T>G
g.451T>G

AA changes

L18R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs2275591

database	homozygous (C/C)	heterozygous	allele carriers
1000G	827	1214	2041
ExAC	16174	419	16593

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.249	0
	-0.759	0
(flanking)	-0.543	0

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

not conserved

ENSPTRG00000006329

Mmulatta

not conserved

ENSMMUG00000007468

Fcatus

not conserved

ENSFCAG00000002707

Mmusculus

not conserved

ENSMUSG00000020988

Ggallus

not conserved

ENSGALG00000012282

Trubripes

no alignment

ENSTRUG00000009830

n/a

Drerio

not conserved

ENSDARG00000060500

Dmelanogaster

no alignment

FBgn0032729

n/a

Celegans

no alignment

Y45G12B.3

n/a

Xtropicalis

no alignment

ENSXETG00000019714

n/a

protein features

start (aa)	end (aa)	feature	details
1	51	TRANSIT	Mitochondrion (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

393 / 393

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

131 / 131

position of stopcodon in wt / mu cDNA

527 / 527

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

135 / 135

chromosome

strand

-1

last intron/exon boundary

472

theoretical NMD boundary in CDS

287

length of CDS

393

coding sequence (CDS) position

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

187

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

451

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

50778816

original gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

original cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

wildtype AA sequence

MVPALRYLVG ACGRARGLFA GGSPGACGFA SGRPRPLCGG SRSASTSSFD IVIVGGGIVG
LASARALILR HPSLSIGVLE KEKDLAVHQT GHNSGVIHSG IYYKPESLKA KLLAALLILE
LYHSGEITCF *

mutated AA sequence

MVPALRYLVG ACGRARGRFA GGSPGACGFA SGRPRPLCGG SRSASTSSFD IVIVGGGIVG
LASARALILR HPSLSIGVLE KEKDLAVHQT GHNSGVIHSG IYYKPESLKA KLLAALLILE
LYHSGEITCF *

speed

0.45 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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)

chr14:50778816A>CN/A show variant in all transcripts IGV

HGNC symbol

L2HGDH

Ensembl transcript ID

ENST00000555423

Genbank transcript ID

N/A

UniProt peptide

Q9H9P8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53T>G
cDNA.129T>G
g.451T>G

AA changes

L18R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs2275591

database	homozygous (C/C)	heterozygous	allele carriers
1000G	827	1214	2041
ExAC	16174	419	16593

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.249	0
	-0.759	0
(flanking)	-0.543	0

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

not conserved

ENSPTRG00000006329

Mmulatta

not conserved

ENSMMUG00000007468

Fcatus

not conserved

ENSFCAG00000002707

Mmusculus

not conserved

ENSMUSG00000020988

Ggallus

not conserved

ENSGALG00000012282

Trubripes

no alignment

ENSTRUG00000009830

n/a

Drerio

not conserved

ENSDARG00000060500

Dmelanogaster

no alignment

FBgn0032729

n/a

Celegans

no alignment

Y45G12B.3

n/a

Xtropicalis

no alignment

ENSXETG00000019714

n/a

protein features

start (aa)	end (aa)	feature	details
1	51	TRANSIT	Mitochondrion (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

711 / 711

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

237 / 237

position of stopcodon in wt / mu cDNA

787 / 787

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

77 / 77

chromosome

strand

-1

last intron/exon boundary

780

theoretical NMD boundary in CDS

653

length of CDS

711

coding sequence (CDS) position

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

129

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

451

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

50778816

original gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

original cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

wildtype AA sequence

mutated AA sequence

speed

1.10 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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)

chr14:50778816A>CN/A show variant in all transcripts IGV

HGNC symbol

L2HGDH

Ensembl transcript ID

ENST00000555610

Genbank transcript ID

N/A

UniProt peptide

Q9H9P8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53T>G
cDNA.57T>G
g.451T>G

AA changes

L18R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs2275591

database	homozygous (C/C)	heterozygous	allele carriers
1000G	827	1214	2041
ExAC	16174	419	16593

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.249	0
	-0.759	0
(flanking)	-0.543	0

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

not conserved

ENSPTRG00000006329

Mmulatta

not conserved

ENSMMUG00000007468

Fcatus

not conserved

ENSFCAG00000002707

Mmusculus

not conserved

ENSMUSG00000020988

Ggallus

not conserved

ENSGALG00000012282

Trubripes

no alignment

ENSTRUG00000009830

n/a

Drerio

not conserved

ENSDARG00000060500

Dmelanogaster

no alignment

FBgn0032729

n/a

Celegans

no alignment

Y45G12B.3

n/a

Xtropicalis

no alignment

ENSXETG00000019714

n/a

protein features

start (aa)	end (aa)	feature	details
1	51	TRANSIT	Mitochondrion (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

636 / 636

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

212 / 212

position of stopcodon in wt / mu cDNA

640 / 640

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

5 / 5

chromosome

strand

-1

last intron/exon boundary

624

theoretical NMD boundary in CDS

569

length of CDS

636

coding sequence (CDS) position

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

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

451

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

50778816

original gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered gDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

original cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG

altered cDNA sequence snippet

CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG

wildtype AA sequence

mutated AA sequence

speed

0.93 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

Problems