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: ENST00000176643
Querying Taster for transcript #2: ENST00000581518
Querying Taster for transcript #3: ENST00000395575
Querying Taster for transcript #4: ENST00000339618
Querying Taster for transcript #5: ENST00000579855
MT speed 4.56 s - this script 5.244577 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ALDH3A2	disease_causing	0.999999999982841	simple_aae		affected		K266N	single base exchange	rs72547569		show file
ALDH3A2	disease_causing	0.999999999982841	simple_aae		affected		K266N	single base exchange	rs72547569		show file
ALDH3A2	disease_causing	0.999999999982841	simple_aae		affected		K266N	single base exchange	rs72547569		show file
ALDH3A2	disease_causing	0.999999999982841	simple_aae		affected		K266N	single base exchange	rs72547569		show file
ALDH3A2	disease_causing	0.999999999982841	simple_aae		affected		K266N	single base exchange	rs72547569		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999982841 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs1643 (probable pathogenic)
known disease mutation at this position (HGMD CM014032)
known disease mutation at this position (HGMD CS993377)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19561175G>CN/A show variant in all transcripts IGV

HGNC symbol

ALDH3A2

Ensembl transcript ID

ENST00000176643

Genbank transcript ID

NM_000382

UniProt peptide

P51648

alteration type

single base exchange

alteration region

CDS

DNA changes

c.798G>C
cDNA.1244G>C
g.9727G>C

AA changes

K266N Score: 94 explain score(s)

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

266

frameshift

known variant

Reference ID: rs72547569

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

known as potential disease variant: rs1643 (probable pathogenic for Sjögren-Larsson syndrome|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CS993377)

known disease mutation at this position, please check HGMD for details (HGMD ID CS993377)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014032)

known disease mutation at this position, please check HGMD for details (HGMD ID CS993377)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014032)

known disease mutation at this position, please check HGMD for details (HGMD ID CS993377)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014032)
known disease mutation at this position, please check HGMD for details (HGMD ID CS993377)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.227	1
	5.759	1
(flanking)	5.842	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	9726	sequence motif lost	-	wt: GAAG\|gttt mu: GAAC.gttt
Donor increased	9722	wt: 0.63 / mu: 0.94	wt: AAACAGTGAAGGTTT mu: AAACAGTGAACGTTT	ACAG\|tgaa
Donor lost	9726	0.86	wt: AGTGAAGGTTTGTAT	TGAA\|ggtt

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

all identical

ENSPTRG00000008872

266

Mmulatta

all identical

ENSMMUG00000014130

266

Fcatus

all identical

ENSFCAG00000005180

215

Mmusculus

all identical

ENSMUSG00000010025

266

Ggallus

all conserved

ENSGALG00000004763

269

Trubripes

all identical

ENSTRUG00000006126

269

Drerio

all identical

ENSDARG00000029381

269

Dmelanogaster

all identical

FBgn0010548

335

Celegans

not conserved

T05H4.13

268

Xtropicalis

all identical

ENSXETG00000013484

266

protein features

start (aa)	end (aa)	feature	details
1	463	TOPO_DOM	Cytoplasmic.	lost
464	480	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1458 / 1458

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

486 / 486

position of stopcodon in wt / mu cDNA

1904 / 1904

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

447 / 447

chromosome

strand

last intron/exon boundary

1890

theoretical NMD boundary in CDS

1393

length of CDS

1458

coding sequence (CDS) position

798

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

1244

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

9727

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

19561175

original gDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTG

altered gDNA sequence snippet

AAGATTAAGGAAACAGTGAACGTTTGTATTAAAAACATCTG

original cDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGAATTTTATGGAGAAAATAT

altered cDNA sequence snippet

AAGATTAAGGAAACAGTGAACGAATTTTATGGAGAAAATAT

wildtype AA sequence

MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*

mutated AA sequence

MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVNEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*

speed

1.01 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: 0.999999999982841 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs1643 (probable pathogenic)
known disease mutation at this position (HGMD CM014032)
known disease mutation at this position (HGMD CS993377)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19561175G>CN/A show variant in all transcripts IGV

HGNC symbol

ALDH3A2

Ensembl transcript ID

ENST00000581518

Genbank transcript ID

N/A

UniProt peptide

P51648

alteration type

single base exchange

alteration region

CDS

DNA changes

c.798G>C
cDNA.1047G>C
g.9727G>C

AA changes

K266N Score: 94 explain score(s)

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

266

frameshift

known variant

Reference ID: rs72547569

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

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.227	1
	5.759	1
(flanking)	5.842	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	9726	sequence motif lost	-	wt: GAAG\|gttt mu: GAAC.gttt
Donor increased	9722	wt: 0.63 / mu: 0.94	wt: AAACAGTGAAGGTTT mu: AAACAGTGAACGTTT	ACAG\|tgaa
Donor lost	9726	0.86	wt: AGTGAAGGTTTGTAT	TGAA\|ggtt

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

all identical

ENSPTRG00000008872

266

Mmulatta

all identical

ENSMMUG00000014130

266

Fcatus

all identical

ENSFCAG00000005180

215

Mmusculus

all identical

ENSMUSG00000010025

266

Ggallus

all conserved

ENSGALG00000004763

269

Trubripes

all identical

ENSTRUG00000006126

269

Drerio

all identical

ENSDARG00000029381

269

Dmelanogaster

all identical

FBgn0010548

335

Celegans

not conserved

T05H4.13

268

Xtropicalis

all identical

ENSXETG00000013484

266

protein features

start (aa)	end (aa)	feature	details
1	463	TOPO_DOM	Cytoplasmic.	lost
464	480	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1527 / 1527

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

509 / 509

position of stopcodon in wt / mu cDNA

1776 / 1776

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

250 / 250

chromosome

strand

last intron/exon boundary

1822

theoretical NMD boundary in CDS

1522

length of CDS

1527

coding sequence (CDS) position

798

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

1047

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

9727

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

19561175

original gDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTG

altered gDNA sequence snippet

AAGATTAAGGAAACAGTGAACGTTTGTATTAAAAACATCTG

original cDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGAATTTTATGGAGAAAATAT

altered cDNA sequence snippet

AAGATTAAGGAAACAGTGAACGAATTTTATGGAGAAAATAT

wildtype AA sequence

mutated AA sequence

MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVNEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KKYQAVLRRK ALLIFLVVHR LRWSSKQR*

speed

1.05 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999982841 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs1643 (probable pathogenic)
known disease mutation at this position (HGMD CM014032)
known disease mutation at this position (HGMD CS993377)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19561175G>CN/A show variant in all transcripts IGV

HGNC symbol

ALDH3A2

Ensembl transcript ID

ENST00000395575

Genbank transcript ID

N/A

UniProt peptide

P51648

alteration type

single base exchange

alteration region

CDS

DNA changes

c.798G>C
cDNA.956G>C
g.9727G>C

AA changes

K266N Score: 94 explain score(s)

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

266

frameshift

known variant

Reference ID: rs72547569

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

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.227	1
	5.759	1
(flanking)	5.842	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	9726	sequence motif lost	-	wt: GAAG\|gttt mu: GAAC.gttt
Donor increased	9722	wt: 0.63 / mu: 0.94	wt: AAACAGTGAAGGTTT mu: AAACAGTGAACGTTT	ACAG\|tgaa
Donor lost	9726	0.86	wt: AGTGAAGGTTTGTAT	TGAA\|ggtt

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

all identical

ENSPTRG00000008872

266

Mmulatta

all identical

ENSMMUG00000014130

266

Fcatus

all identical

ENSFCAG00000005180

215

Mmusculus

all identical

ENSMUSG00000010025

266

Ggallus

all conserved

ENSGALG00000004763

269

Trubripes

all identical

ENSTRUG00000006126

269

Drerio

all identical

ENSDARG00000029381

269

Dmelanogaster

all identical

FBgn0010548

335

Celegans

not conserved

T05H4.13

268

Xtropicalis

all identical

ENSXETG00000013484

266

protein features

start (aa)	end (aa)	feature	details
1	463	TOPO_DOM	Cytoplasmic.	lost
464	480	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1458 / 1458

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

486 / 486

position of stopcodon in wt / mu cDNA

1616 / 1616

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

159 / 159

chromosome

strand

last intron/exon boundary

1602

theoretical NMD boundary in CDS

1393

length of CDS

1458

coding sequence (CDS) position

798

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

956

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

9727

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

19561175

original gDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTG

altered gDNA sequence snippet

AAGATTAAGGAAACAGTGAACGTTTGTATTAAAAACATCTG

original cDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGAATTTTATGGAGAAAATAT

altered cDNA sequence snippet

AAGATTAAGGAAACAGTGAACGAATTTTATGGAGAAAATAT

wildtype AA sequence

mutated AA sequence

MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVNEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*

speed

1.03 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999982841 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs1643 (probable pathogenic)
known disease mutation at this position (HGMD CM014032)
known disease mutation at this position (HGMD CS993377)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19561175G>CN/A show variant in all transcripts IGV

HGNC symbol

ALDH3A2

Ensembl transcript ID

ENST00000339618

Genbank transcript ID

NM_001031806

UniProt peptide

P51648

alteration type

single base exchange

alteration region

CDS

DNA changes

c.798G>C
cDNA.1019G>C
g.9727G>C

AA changes

K266N Score: 94 explain score(s)

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

266

frameshift

known variant

Reference ID: rs72547569

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

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.227	1
	5.759	1
(flanking)	5.842	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	9726	sequence motif lost	-	wt: GAAG\|gttt mu: GAAC.gttt
Donor increased	9722	wt: 0.63 / mu: 0.94	wt: AAACAGTGAAGGTTT mu: AAACAGTGAACGTTT	ACAG\|tgaa
Donor lost	9726	0.86	wt: AGTGAAGGTTTGTAT	TGAA\|ggtt

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

all identical

ENSPTRG00000008872

266

Mmulatta

all identical

ENSMMUG00000014130

266

Fcatus

all identical

ENSFCAG00000005180

215

Mmusculus

all identical

ENSMUSG00000010025

266

Ggallus

all conserved

ENSGALG00000004763

269

Trubripes

all identical

ENSTRUG00000006126

269

Drerio

all identical

ENSDARG00000029381

269

Dmelanogaster

all identical

FBgn0010548

335

Celegans

not conserved

T05H4.13

268

Xtropicalis

all identical

ENSXETG00000013484

266

protein features

start (aa)	end (aa)	feature	details
1	463	TOPO_DOM	Cytoplasmic.	lost
464	480	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1527 / 1527

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

509 / 509

position of stopcodon in wt / mu cDNA

1748 / 1748

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

222 / 222

chromosome

strand

last intron/exon boundary

1790

theoretical NMD boundary in CDS

1518

length of CDS

1527

coding sequence (CDS) position

798

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

1019

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

9727

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

19561175

original gDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTG

altered gDNA sequence snippet

AAGATTAAGGAAACAGTGAACGTTTGTATTAAAAACATCTG

original cDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGAATTTTATGGAGAAAATAT

altered cDNA sequence snippet

AAGATTAAGGAAACAGTGAACGAATTTTATGGAGAAAATAT

wildtype AA sequence

mutated AA sequence

MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVNEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KKYQAVLRRK ALLIFLVVHR LRWSSKQR*

speed

0.42 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999982841 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs1643 (probable pathogenic)
known disease mutation at this position (HGMD CM014032)
known disease mutation at this position (HGMD CS993377)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19561175G>CN/A show variant in all transcripts IGV

HGNC symbol

ALDH3A2

Ensembl transcript ID

ENST00000579855

Genbank transcript ID

N/A

UniProt peptide

P51648

alteration type

single base exchange

alteration region

CDS

DNA changes

c.798G>C
cDNA.897G>C
g.9727G>C

AA changes

K266N Score: 94 explain score(s)

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

266

frameshift

known variant

Reference ID: rs72547569

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

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.227	1
	5.759	1
(flanking)	5.842	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	9726	sequence motif lost	-	wt: GAAG\|gttt mu: GAAC.gttt
Donor increased	9722	wt: 0.63 / mu: 0.94	wt: AAACAGTGAAGGTTT mu: AAACAGTGAACGTTT	ACAG\|tgaa
Donor lost	9726	0.86	wt: AGTGAAGGTTTGTAT	TGAA\|ggtt

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

all identical

ENSPTRG00000008872

266

Mmulatta

all identical

ENSMMUG00000014130

266

Fcatus

all identical

ENSFCAG00000005180

215

Mmusculus

all identical

ENSMUSG00000010025

266

Ggallus

all conserved

ENSGALG00000004763

269

Trubripes

all identical

ENSTRUG00000006126

269

Drerio

all identical

ENSDARG00000029381

269

Dmelanogaster

all identical

FBgn0010548

335

Celegans

not conserved

T05H4.13

268

Xtropicalis

all identical

ENSXETG00000013484

266

protein features

start (aa)	end (aa)	feature	details
1	463	TOPO_DOM	Cytoplasmic.	lost
464	480	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1458 / 1458

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

486 / 486

position of stopcodon in wt / mu cDNA

1557 / 1557

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

100 / 100

chromosome

strand

last intron/exon boundary

1543

theoretical NMD boundary in CDS

1393

length of CDS

1458

coding sequence (CDS) position

798

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

897

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

9727

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

19561175

original gDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTG

altered gDNA sequence snippet

AAGATTAAGGAAACAGTGAACGTTTGTATTAAAAACATCTG

original cDNA sequence snippet

AAGATTAAGGAAACAGTGAAGGAATTTTATGGAGAAAATAT

altered cDNA sequence snippet

AAGATTAAGGAAACAGTGAACGAATTTTATGGAGAAAATAT

wildtype AA sequence

mutated AA sequence

MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVNEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*

speed

1.05 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