MutationTaster - study a chromosomal position

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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 0 s - this script 4.630302 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ALDH3A2	disease_causing_automatic	0.999999999995534	simple_aae		affected	0	P315S	single base exchange	rs72547571		show file
ALDH3A2	disease_causing_automatic	0.999999999995534	simple_aae		affected	0	P315S	single base exchange	rs72547571		show file
ALDH3A2	disease_causing_automatic	0.999999999995534	simple_aae		affected	0	P315S	single base exchange	rs72547571		show file
ALDH3A2	disease_causing_automatic	0.999999999995534	simple_aae		affected	0	P315S	single base exchange	rs72547571		show file
ALDH3A2	disease_causing_automatic	0.999999999995534	simple_aae		affected	0	P315S	single base exchange	rs72547571		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999995534 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970080)
known disease mutation: rs1640 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19566648C>TN/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.943C>T
cDNA.1389C>T
g.15200C>T

AA changes

P315S Score: 74 explain score(s)

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

315

frameshift

known variant

Reference ID: rs72547571

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	23	23

known disease mutation: rs1640 (pathogenic for Sjögren-Larsson syndrome|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970080)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970080)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970080)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.093	0.995
	5.681	1
(flanking)	4.047	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
Acceptor lost	15197	sequence motif lost	-	wt: ttag\|CCCC mu: ttag.CCTC
Acc marginally increased	15190	wt: 0.9480 / mu: 0.9593 (marginal change - not scored)	wt: ATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACT mu: ATTTTCATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACT	tttc\|TTTT
Acc marginally increased	15198	wt: 0.9355 / mu: 0.9703 (marginal change - not scored)	wt: TTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATG mu: TTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATG	tagc\|CCCA
Acc marginally increased	15205	wt: 0.8949 / mu: 0.9212 (marginal change - not scored)	wt: ATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCC mu: ATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCC	aaca\|GTAC
Acc increased	15202	wt: 0.65 / mu: 0.79	wt: TTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGA mu: TTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGA	ccca\|ACAG
Acc marginally increased	15196	wt: 0.9975 / mu: 0.9978 (marginal change - not scored)	wt: ATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGA mu: ATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGA	ttta\|GCCC
Acc increased	15203	wt: 0.49 / mu: 0.63	wt: TTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGAT mu: TTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGAT	ccaa\|CAGT
Acc gained	15206	0.31	mu: TTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCCT	acag\|TACT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

315

mutated

not conserved

315

Ptroglodytes

all identical

ENSPTRG00000008872

315

Mmulatta

all identical

ENSMMUG00000014130

315

Fcatus

all identical

ENSFCAG00000005180

264

Mmusculus

all identical

ENSMUSG00000010025

315

Ggallus

all identical

ENSGALG00000004763

318

Trubripes

all identical

ENSTRUG00000006126

318

Drerio

all identical

ENSDARG00000029381

318

Dmelanogaster

all identical

FBgn0010548

384

Celegans

all identical

T05H4.13

319

Xtropicalis

all identical

ENSXETG00000013484

315

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

943

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

1389

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

15200

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

19566648

original gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTT

altered gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTT

original cDNA sequence snippet

AGGCCACACGCTACATAGCCCCAACAGTACTTACCGATGTT

altered cDNA sequence snippet

AGGCCACACGCTACATAGCCTCAACAGTACTTACCGATGTT

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 IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIASTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*

speed

0.95 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: 0.999999999995534 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970080)
known disease mutation: rs1640 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19566648C>TN/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.943C>T
cDNA.1192C>T
g.15200C>T

AA changes

P315S Score: 74 explain score(s)

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

315

frameshift

known variant

Reference ID: rs72547571

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	23	23

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.093	0.995
	5.681	1
(flanking)	4.047	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
Acceptor lost	15197	sequence motif lost	-	wt: ttag\|CCCC mu: ttag.CCTC
Acc marginally increased	15190	wt: 0.9480 / mu: 0.9593 (marginal change - not scored)	wt: ATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACT mu: ATTTTCATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACT	tttc\|TTTT
Acc marginally increased	15198	wt: 0.9355 / mu: 0.9703 (marginal change - not scored)	wt: TTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATG mu: TTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATG	tagc\|CCCA
Acc marginally increased	15205	wt: 0.8949 / mu: 0.9212 (marginal change - not scored)	wt: ATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCC mu: ATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCC	aaca\|GTAC
Acc increased	15202	wt: 0.65 / mu: 0.79	wt: TTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGA mu: TTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGA	ccca\|ACAG
Acc marginally increased	15196	wt: 0.9975 / mu: 0.9978 (marginal change - not scored)	wt: ATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGA mu: ATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGA	ttta\|GCCC
Acc increased	15203	wt: 0.49 / mu: 0.63	wt: TTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGAT mu: TTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGAT	ccaa\|CAGT
Acc gained	15206	0.31	mu: TTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCCT	acag\|TACT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

315

mutated

not conserved

315

Ptroglodytes

all identical

ENSPTRG00000008872

315

Mmulatta

all identical

ENSMMUG00000014130

315

Fcatus

all identical

ENSFCAG00000005180

264

Mmusculus

all identical

ENSMUSG00000010025

315

Ggallus

all identical

ENSGALG00000004763

318

Trubripes

all identical

ENSTRUG00000006126

318

Drerio

all identical

ENSDARG00000029381

318

Dmelanogaster

all identical

FBgn0010548

384

Celegans

all identical

T05H4.13

319

Xtropicalis

all identical

ENSXETG00000013484

315

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

943

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

1192

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

15200

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

19566648

original gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTT

altered gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTT

original cDNA sequence snippet

AGGCCACACGCTACATAGCCCCAACAGTACTTACCGATGTT

altered cDNA sequence snippet

AGGCCACACGCTACATAGCCTCAACAGTACTTACCGATGTT

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 IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIASTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KKYQAVLRRK ALLIFLVVHR LRWSSKQR*

speed

0.99 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999995534 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970080)
known disease mutation: rs1640 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19566648C>TN/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.943C>T
cDNA.1101C>T
g.15200C>T

AA changes

P315S Score: 74 explain score(s)

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

315

frameshift

known variant

Reference ID: rs72547571

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	23	23

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.093	0.995
	5.681	1
(flanking)	4.047	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
Acceptor lost	15197	sequence motif lost	-	wt: ttag\|CCCC mu: ttag.CCTC
Acc marginally increased	15190	wt: 0.9480 / mu: 0.9593 (marginal change - not scored)	wt: ATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACT mu: ATTTTCATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACT	tttc\|TTTT
Acc marginally increased	15198	wt: 0.9355 / mu: 0.9703 (marginal change - not scored)	wt: TTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATG mu: TTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATG	tagc\|CCCA
Acc marginally increased	15205	wt: 0.8949 / mu: 0.9212 (marginal change - not scored)	wt: ATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCC mu: ATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCC	aaca\|GTAC
Acc increased	15202	wt: 0.65 / mu: 0.79	wt: TTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGA mu: TTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGA	ccca\|ACAG
Acc marginally increased	15196	wt: 0.9975 / mu: 0.9978 (marginal change - not scored)	wt: ATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGA mu: ATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGA	ttta\|GCCC
Acc increased	15203	wt: 0.49 / mu: 0.63	wt: TTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGAT mu: TTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGAT	ccaa\|CAGT
Acc gained	15206	0.31	mu: TTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCCT	acag\|TACT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

315

mutated

not conserved

315

Ptroglodytes

all identical

ENSPTRG00000008872

315

Mmulatta

all identical

ENSMMUG00000014130

315

Fcatus

all identical

ENSFCAG00000005180

264

Mmusculus

all identical

ENSMUSG00000010025

315

Ggallus

all identical

ENSGALG00000004763

318

Trubripes

all identical

ENSTRUG00000006126

318

Drerio

all identical

ENSDARG00000029381

318

Dmelanogaster

all identical

FBgn0010548

384

Celegans

all identical

T05H4.13

319

Xtropicalis

all identical

ENSXETG00000013484

315

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

943

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

1101

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

15200

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

19566648

original gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTT

altered gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTT

original cDNA sequence snippet

AGGCCACACGCTACATAGCCCCAACAGTACTTACCGATGTT

altered cDNA sequence snippet

AGGCCACACGCTACATAGCCTCAACAGTACTTACCGATGTT

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 IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIASTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*

speed

0.85 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999995534 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970080)
known disease mutation: rs1640 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19566648C>TN/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.943C>T
cDNA.1164C>T
g.15200C>T

AA changes

P315S Score: 74 explain score(s)

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

315

frameshift

known variant

Reference ID: rs72547571

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	23	23

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.093	0.995
	5.681	1
(flanking)	4.047	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
Acceptor lost	15197	sequence motif lost	-	wt: ttag\|CCCC mu: ttag.CCTC
Acc marginally increased	15190	wt: 0.9480 / mu: 0.9593 (marginal change - not scored)	wt: ATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACT mu: ATTTTCATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACT	tttc\|TTTT
Acc marginally increased	15198	wt: 0.9355 / mu: 0.9703 (marginal change - not scored)	wt: TTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATG mu: TTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATG	tagc\|CCCA
Acc marginally increased	15205	wt: 0.8949 / mu: 0.9212 (marginal change - not scored)	wt: ATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCC mu: ATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCC	aaca\|GTAC
Acc increased	15202	wt: 0.65 / mu: 0.79	wt: TTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGA mu: TTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGA	ccca\|ACAG
Acc marginally increased	15196	wt: 0.9975 / mu: 0.9978 (marginal change - not scored)	wt: ATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGA mu: ATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGA	ttta\|GCCC
Acc increased	15203	wt: 0.49 / mu: 0.63	wt: TTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGAT mu: TTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGAT	ccaa\|CAGT
Acc gained	15206	0.31	mu: TTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCCT	acag\|TACT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

315

mutated

not conserved

315

Ptroglodytes

all identical

ENSPTRG00000008872

315

Mmulatta

all identical

ENSMMUG00000014130

315

Fcatus

all identical

ENSFCAG00000005180

264

Mmusculus

all identical

ENSMUSG00000010025

315

Ggallus

all identical

ENSGALG00000004763

318

Trubripes

all identical

ENSTRUG00000006126

318

Drerio

all identical

ENSDARG00000029381

318

Dmelanogaster

all identical

FBgn0010548

384

Celegans

all identical

T05H4.13

319

Xtropicalis

all identical

ENSXETG00000013484

315

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

943

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

1164

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

15200

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

19566648

original gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTT

altered gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTT

original cDNA sequence snippet

AGGCCACACGCTACATAGCCCCAACAGTACTTACCGATGTT

altered cDNA sequence snippet

AGGCCACACGCTACATAGCCTCAACAGTACTTACCGATGTT

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 IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIASTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KKYQAVLRRK ALLIFLVVHR LRWSSKQR*

speed

0.60 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999995534 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970080)
known disease mutation: rs1640 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:19566648C>TN/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.943C>T
cDNA.1042C>T
g.15200C>T

AA changes

P315S Score: 74 explain score(s)

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

315

frameshift

known variant

Reference ID: rs72547571

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	23	23

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.093	0.995
	5.681	1
(flanking)	4.047	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
Acceptor lost	15197	sequence motif lost	-	wt: ttag\|CCCC mu: ttag.CCTC
Acc marginally increased	15190	wt: 0.9480 / mu: 0.9593 (marginal change - not scored)	wt: ATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACT mu: ATTTTCATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACT	tttc\|TTTT
Acc marginally increased	15198	wt: 0.9355 / mu: 0.9703 (marginal change - not scored)	wt: TTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATG mu: TTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATG	tagc\|CCCA
Acc marginally increased	15205	wt: 0.8949 / mu: 0.9212 (marginal change - not scored)	wt: ATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCC mu: ATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCC	aaca\|GTAC
Acc increased	15202	wt: 0.65 / mu: 0.79	wt: TTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGA mu: TTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGA	ccca\|ACAG
Acc marginally increased	15196	wt: 0.9975 / mu: 0.9978 (marginal change - not scored)	wt: ATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGA mu: ATTTTGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGA	ttta\|GCCC
Acc increased	15203	wt: 0.49 / mu: 0.63	wt: TTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGAT mu: TTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGAT	ccaa\|CAGT
Acc gained	15206	0.31	mu: TTTTCTTTTTAGCCTCAACAGTACTTACCGATGTTGATCCT	acag\|TACT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

315

mutated

not conserved

315

Ptroglodytes

all identical

ENSPTRG00000008872

315

Mmulatta

all identical

ENSMMUG00000014130

315

Fcatus

all identical

ENSFCAG00000005180

264

Mmusculus

all identical

ENSMUSG00000010025

315

Ggallus

all identical

ENSGALG00000004763

318

Trubripes

all identical

ENSTRUG00000006126

318

Drerio

all identical

ENSDARG00000029381

318

Dmelanogaster

all identical

FBgn0010548

384

Celegans

all identical

T05H4.13

319

Xtropicalis

all identical

ENSXETG00000013484

315

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

943

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

1042

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

15200

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

19566648

original gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTT

altered gDNA sequence snippet

TGTTTATTTTCTTTTTAGCCTCAACAGTACTTACCGATGTT

original cDNA sequence snippet

AGGCCACACGCTACATAGCCCCAACAGTACTTACCGATGTT

altered cDNA sequence snippet

AGGCCACACGCTACATAGCCTCAACAGTACTTACCGATGTT

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 IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIASTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*

speed

0.64 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