MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 9 transcript(s)...
Querying Taster for transcript #1: ENST00000346798
Querying Taster for transcript #2: ENST00000354192
Querying Taster for transcript #3: ENST00000348990
Querying Taster for transcript #4: ENST00000357903
Querying Taster for transcript #5: ENST00000439274
Querying Taster for transcript #6: ENST00000358918
Querying Taster for transcript #7: ENST00000359726
Querying Taster for transcript #8: ENST00000440126
Querying Taster for transcript #9: ENST00000448388
MT speed 0 s - this script 6.337737 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
APP	disease_causing	0.999712265995617	simple_aae				E665D	single base exchange	rs63750363		show file
APP	disease_causing	0.999712265995617	simple_aae				E590D	single base exchange	rs63750363		show file
APP	disease_causing	0.999712265995617	simple_aae				E646D	single base exchange	rs63750363		show file
APP	disease_causing	0.999712265995617	simple_aae				E609D	single base exchange	rs63750363		show file
APP	disease_causing	0.999712265995617	simple_aae				E609D	single base exchange	rs63750363		show file
APP	disease_causing	0.999712265995617	simple_aae				E641D	single base exchange	rs63750363		show file
APP	disease_causing	0.999923741290388	simple_aae				E647D	single base exchange	rs63750363		show file
APP	disease_causing	0.999952776581086	simple_aae				E555D	single base exchange	rs63750363		show file
APP	disease_causing	0.999963732021333	simple_aae				E534D	single base exchange	rs63750363		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999712265995617 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM940077)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27269954C>GN/A show variant in all transcripts IGV

HGNC symbol

APP

Ensembl transcript ID

ENST00000346798

Genbank transcript ID

NM_000484

UniProt peptide

P05067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1995G>C
cDNA.2029G>C
g.273493G>C

AA changes

E665D Score: 45 explain score(s)

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

665

frameshift

known variant

Reference ID: rs63750363

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

known disease mutation at this position, please check HGMD for details (HGMD ID CM940077)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940077)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940077)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.739	1
	2.615	1
(flanking)	2.684	1

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

665

mutated

all conserved

665

Ptroglodytes

all identical

ENSPTRG00000013811

665

Mmulatta

all identical

ENSMMUG00000014384

665

Fcatus

all identical

ENSFCAG00000001556

646

Mmusculus

all identical

ENSMUSG00000022892

590

Ggallus

all identical

ENSGALG00000015770

646

Trubripes

not conserved

ENSTRUG00000010470

659

Drerio

all identical

ENSDARG00000055543

656

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

556

Xtropicalis

all identical

ENSXETG00000013612

666

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2313 / 2313

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

771 / 771

position of stopcodon in wt / mu cDNA

2347 / 2347

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

35 / 35

chromosome

strand

-1

last intron/exon boundary

2246

theoretical NMD boundary in CDS

2161

length of CDS

2313

coding sequence (CDS) position

1995

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

2029

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

273493

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

27269954

original gDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered gDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

original cDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered cDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

wildtype AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVREV CSEQAETGPC
RAMISRWYFD VTEGKCAPFF YGGCGGNRNN FDTEEYCMAV CGSAMSQSLL KTTQEPLARD
PVKLPTTAAS TPDAVDKYLE TPGDENEHAH FQKAKERLEA KHRERMSQVM REWEEAERQA
KNLPKADKKA VIQHFQEKVE SLEQEAANER QQLVETHMAR VEAMLNDRRR LALENYITAL
QAVPPRPRHV FNMLKKYVRA EQKDRQHTLK HFEHVRMVDP KKAAQIRSQV MTHLRVIYER
MNQSLSLLYN VPAVAEEIQD EVDELLQKEQ NYSDDVLANM ISEPRISYGN DALMPSLTET
KTTVELLPVN GEFSLDDLQP WHSFGADSVP ANTENEVEPV DARPAADRGL TTRPGSGLTN
IKTEEISEVK MDAEFRHDSG YEVHHQKLVF FAEDVGSNKG AIIGLMVGGV VIATVIVITL
VMLKKKQYTS IHHGVVEVDA AVTPEERHLS KMQQNGYENP TYKFFEQMQN *

mutated AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVREV CSEQAETGPC
RAMISRWYFD VTEGKCAPFF YGGCGGNRNN FDTEEYCMAV CGSAMSQSLL KTTQEPLARD
PVKLPTTAAS TPDAVDKYLE TPGDENEHAH FQKAKERLEA KHRERMSQVM REWEEAERQA
KNLPKADKKA VIQHFQEKVE SLEQEAANER QQLVETHMAR VEAMLNDRRR LALENYITAL
QAVPPRPRHV FNMLKKYVRA EQKDRQHTLK HFEHVRMVDP KKAAQIRSQV MTHLRVIYER
MNQSLSLLYN VPAVAEEIQD EVDELLQKEQ NYSDDVLANM ISEPRISYGN DALMPSLTET
KTTVELLPVN GEFSLDDLQP WHSFGADSVP ANTENEVEPV DARPAADRGL TTRPGSGLTN
IKTEDISEVK MDAEFRHDSG YEVHHQKLVF FAEDVGSNKG AIIGLMVGGV VIATVIVITL
VMLKKKQYTS IHHGVVEVDA AVTPEERHLS KMQQNGYENP TYKFFEQMQN *

speed

0.71 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: 0.999712265995617 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM940077)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27269954C>GN/A show variant in all transcripts IGV

HGNC symbol

APP

Ensembl transcript ID

ENST00000348990

Genbank transcript ID

NM_201414

UniProt peptide

P05067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1770G>C
cDNA.1917G>C
g.273493G>C

AA changes

E590D Score: 45 explain score(s)

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

590

frameshift

known variant

Reference ID: rs63750363

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.739	1
	2.615	1
(flanking)	2.684	1

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

590

mutated

all conserved

590

Ptroglodytes

all identical

ENSPTRG00000013811

665

Mmulatta

all identical

ENSMMUG00000014384

665

Fcatus

all identical

ENSFCAG00000001556

646

Mmusculus

all identical

ENSMUSG00000022892

590

Ggallus

all identical

ENSGALG00000015770

646

Trubripes

not conserved

ENSTRUG00000010470

659

Drerio

all identical

ENSDARG00000055543

662

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

582

Xtropicalis

all identical

ENSXETG00000013612

666

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2088 / 2088

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

696 / 696

position of stopcodon in wt / mu cDNA

2235 / 2235

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

148 / 148

chromosome

strand

-1

last intron/exon boundary

2134

theoretical NMD boundary in CDS

1936

length of CDS

2088

coding sequence (CDS) position

1770

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

1917

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

273493

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

27269954

original gDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered gDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

original cDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered cDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

wildtype AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVRVP TTAASTPDAV
DKYLETPGDE NEHAHFQKAK ERLEAKHRER MSQVMREWEE AERQAKNLPK ADKKAVIQHF
QEKVESLEQE AANERQQLVE THMARVEAML NDRRRLALEN YITALQAVPP RPRHVFNMLK
KYVRAEQKDR QHTLKHFEHV RMVDPKKAAQ IRSQVMTHLR VIYERMNQSL SLLYNVPAVA
EEIQDEVDEL LQKEQNYSDD VLANMISEPR ISYGNDALMP SLTETKTTVE LLPVNGEFSL
DDLQPWHSFG ADSVPANTEN EVEPVDARPA ADRGLTTRPG SGLTNIKTEE ISEVKMDAEF
RHDSGYEVHH QKLVFFAEDV GSNKGAIIGL MVGGVVIATV IVITLVMLKK KQYTSIHHGV
VEVDAAVTPE ERHLSKMQQN GYENPTYKFF EQMQN*

mutated AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVRVP TTAASTPDAV
DKYLETPGDE NEHAHFQKAK ERLEAKHRER MSQVMREWEE AERQAKNLPK ADKKAVIQHF
QEKVESLEQE AANERQQLVE THMARVEAML NDRRRLALEN YITALQAVPP RPRHVFNMLK
KYVRAEQKDR QHTLKHFEHV RMVDPKKAAQ IRSQVMTHLR VIYERMNQSL SLLYNVPAVA
EEIQDEVDEL LQKEQNYSDD VLANMISEPR ISYGNDALMP SLTETKTTVE LLPVNGEFSL
DDLQPWHSFG ADSVPANTEN EVEPVDARPA ADRGLTTRPG SGLTNIKTED ISEVKMDAEF
RHDSGYEVHH QKLVFFAEDV GSNKGAIIGL MVGGVVIATV IVITLVMLKK KQYTSIHHGV
VEVDAAVTPE ERHLSKMQQN GYENPTYKFF EQMQN*

speed

0.71 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999712265995617 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM940077)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27269954C>GN/A show variant in all transcripts IGV

HGNC symbol

APP

Ensembl transcript ID

ENST00000357903

Genbank transcript ID

NM_201413

UniProt peptide

P05067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1938G>C
cDNA.2105G>C
g.273493G>C

AA changes

E646D Score: 45 explain score(s)

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

646

frameshift

known variant

Reference ID: rs63750363

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.739	1
	2.615	1
(flanking)	2.684	1

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

646

mutated

all conserved

646

Ptroglodytes

all identical

ENSPTRG00000013811

665

Mmulatta

all identical

ENSMMUG00000014384

665

Fcatus

all identical

ENSFCAG00000001556

646

Mmusculus

all identical

ENSMUSG00000022892

590

Ggallus

all identical

ENSGALG00000015770

646

Trubripes

not conserved

ENSTRUG00000010470

659

Drerio

all identical

ENSDARG00000055543

662

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

591

Xtropicalis

all identical

ENSXETG00000013612

666

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2256 / 2256

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

752 / 752

position of stopcodon in wt / mu cDNA

2423 / 2423

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

168 / 168

chromosome

strand

-1

last intron/exon boundary

2322

theoretical NMD boundary in CDS

2104

length of CDS

2256

coding sequence (CDS) position

1938

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

2105

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

273493

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

27269954

original gDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered gDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

original cDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered cDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

wildtype AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVREV CSEQAETGPC
RAMISRWYFD VTEGKCAPFF YGGCGGNRNN FDTEEYCMAV CGSAIPTTAA STPDAVDKYL
ETPGDENEHA HFQKAKERLE AKHRERMSQV MREWEEAERQ AKNLPKADKK AVIQHFQEKV
ESLEQEAANE RQQLVETHMA RVEAMLNDRR RLALENYITA LQAVPPRPRH VFNMLKKYVR
AEQKDRQHTL KHFEHVRMVD PKKAAQIRSQ VMTHLRVIYE RMNQSLSLLY NVPAVAEEIQ
DEVDELLQKE QNYSDDVLAN MISEPRISYG NDALMPSLTE TKTTVELLPV NGEFSLDDLQ
PWHSFGADSV PANTENEVEP VDARPAADRG LTTRPGSGLT NIKTEEISEV KMDAEFRHDS
GYEVHHQKLV FFAEDVGSNK GAIIGLMVGG VVIATVIVIT LVMLKKKQYT SIHHGVVEVD
AAVTPEERHL SKMQQNGYEN PTYKFFEQMQ N*

mutated AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVREV CSEQAETGPC
RAMISRWYFD VTEGKCAPFF YGGCGGNRNN FDTEEYCMAV CGSAIPTTAA STPDAVDKYL
ETPGDENEHA HFQKAKERLE AKHRERMSQV MREWEEAERQ AKNLPKADKK AVIQHFQEKV
ESLEQEAANE RQQLVETHMA RVEAMLNDRR RLALENYITA LQAVPPRPRH VFNMLKKYVR
AEQKDRQHTL KHFEHVRMVD PKKAAQIRSQ VMTHLRVIYE RMNQSLSLLY NVPAVAEEIQ
DEVDELLQKE QNYSDDVLAN MISEPRISYG NDALMPSLTE TKTTVELLPV NGEFSLDDLQ
PWHSFGADSV PANTENEVEP VDARPAADRG LTTRPGSGLT NIKTEDISEV KMDAEFRHDS
GYEVHHQKLV FFAEDVGSNK GAIIGLMVGG VVIATVIVIT LVMLKKKQYT SIHHGVVEVD
AAVTPEERHL SKMQQNGYEN PTYKFFEQMQ N*

speed

0.95 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999712265995617 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM940077)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27269954C>GN/A show variant in all transcripts IGV

HGNC symbol

APP

Ensembl transcript ID

ENST00000439274

Genbank transcript ID

NM_001136130

UniProt peptide

P05067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1827G>C
cDNA.1861G>C
g.273493G>C

AA changes

E609D Score: 45 explain score(s)

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

609

frameshift

known variant

Reference ID: rs63750363

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.739	1
	2.615	1
(flanking)	2.684	1

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

609

mutated

all conserved

609

Ptroglodytes

all identical

ENSPTRG00000013811

665

Mmulatta

all identical

ENSMMUG00000014384

665

Fcatus

all identical

ENSFCAG00000001556

646

Mmusculus

all identical

ENSMUSG00000022892

590

Ggallus

all identical

ENSGALG00000015770

646

Trubripes

not conserved

ENSTRUG00000010470

666

Drerio

all identical

ENSDARG00000055543

650

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

556

Xtropicalis

all identical

ENSXETG00000013612

666

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2145 / 2145

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

715 / 715

position of stopcodon in wt / mu cDNA

2179 / 2179

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

35 / 35

chromosome

strand

-1

last intron/exon boundary

2078

theoretical NMD boundary in CDS

1993

length of CDS

2145

coding sequence (CDS) position

1827

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

1861

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

273493

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

27269954

original gDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered gDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

original cDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered cDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

wildtype AA sequence

MLPGLALLLL AAWTARALEV YPELQITNVV EANQPVTIQN WCKRGRKQCK THPHFVIPYR
CLVGEFVSDA LLVPDKCKFL HQERMDVCET HLHWHTVAKE TCSEKSTNLH DYGMLLPCGI
DKFRGVEFVC CPLAEESDNV DSADAEEDDS DVWWGGADTD YADGSEDKVV EVAEEEEVAE
VEEEEADDDE DDEDGDEVEE EAEEPYEEAT ERTTSIATTT TTTTESVEEV VREVCSEQAE
TGPCRAMISR WYFDVTEGKC APFFYGGCGG NRNNFDTEEY CMAVCGSAMS QSLLKTTQEP
LARDPVKLPT TAASTPDAVD KYLETPGDEN EHAHFQKAKE RLEAKHRERM SQVMREWEEA
ERQAKNLPKA DKKAVIQHFQ EKVESLEQEA ANERQQLVET HMARVEAMLN DRRRLALENY
ITALQAVPPR PRHVFNMLKK YVRAEQKDRQ HTLKHFEHVR MVDPKKAAQI RSQVMTHLRV
IYERMNQSLS LLYNVPAVAE EIQDEVDELL QKEQNYSDDV LANMISEPRI SYGNDALMPS
LTETKTTVEL LPVNGEFSLD DLQPWHSFGA DSVPANTENE VEPVDARPAA DRGLTTRPGS
GLTNIKTEEI SEVKMDAEFR HDSGYEVHHQ KLVFFAEDVG SNKGAIIGLM VGGVVIATVI
VITLVMLKKK QYTSIHHGVV EVDAAVTPEE RHLSKMQQNG YENPTYKFFE QMQN*

mutated AA sequence

MLPGLALLLL AAWTARALEV YPELQITNVV EANQPVTIQN WCKRGRKQCK THPHFVIPYR
CLVGEFVSDA LLVPDKCKFL HQERMDVCET HLHWHTVAKE TCSEKSTNLH DYGMLLPCGI
DKFRGVEFVC CPLAEESDNV DSADAEEDDS DVWWGGADTD YADGSEDKVV EVAEEEEVAE
VEEEEADDDE DDEDGDEVEE EAEEPYEEAT ERTTSIATTT TTTTESVEEV VREVCSEQAE
TGPCRAMISR WYFDVTEGKC APFFYGGCGG NRNNFDTEEY CMAVCGSAMS QSLLKTTQEP
LARDPVKLPT TAASTPDAVD KYLETPGDEN EHAHFQKAKE RLEAKHRERM SQVMREWEEA
ERQAKNLPKA DKKAVIQHFQ EKVESLEQEA ANERQQLVET HMARVEAMLN DRRRLALENY
ITALQAVPPR PRHVFNMLKK YVRAEQKDRQ HTLKHFEHVR MVDPKKAAQI RSQVMTHLRV
IYERMNQSLS LLYNVPAVAE EIQDEVDELL QKEQNYSDDV LANMISEPRI SYGNDALMPS
LTETKTTVEL LPVNGEFSLD DLQPWHSFGA DSVPANTENE VEPVDARPAA DRGLTTRPGS
GLTNIKTEDI SEVKMDAEFR HDSGYEVHHQ KLVFFAEDVG SNKGAIIGLM VGGVVIATVI
VITLVMLKKK QYTSIHHGVV EVDAAVTPEE RHLSKMQQNG YENPTYKFFE QMQN*

speed

1.10 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999712265995617 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM940077)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27269954C>GN/A show variant in all transcripts IGV

HGNC symbol

APP

Ensembl transcript ID

ENST00000359726

Genbank transcript ID

N/A

UniProt peptide

P05067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1827G>C
cDNA.2027G>C
g.273493G>C

AA changes

E609D Score: 45 explain score(s)

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

609

frameshift

known variant

Reference ID: rs63750363

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.739	1
	2.615	1
(flanking)	2.684	1

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

609

mutated

all conserved

609

Ptroglodytes

all identical

ENSPTRG00000013811

665

Mmulatta

all identical

ENSMMUG00000014384

665

Fcatus

all identical

ENSFCAG00000001556

646

Mmusculus

all identical

ENSMUSG00000022892

590

Ggallus

all identical

ENSGALG00000015770

646

Trubripes

not conserved

ENSTRUG00000010470

659

Drerio

all identical

ENSDARG00000055543

662

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

572

Xtropicalis

all identical

ENSXETG00000013612

666

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2145 / 2145

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

715 / 715

position of stopcodon in wt / mu cDNA

2345 / 2345

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

201 / 201

chromosome

strand

-1

last intron/exon boundary

2244

theoretical NMD boundary in CDS

1993

length of CDS

2145

coding sequence (CDS) position

1827

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

2027

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

273493

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

27269954

original gDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered gDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

original cDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered cDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

wildtype AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVRVS QSLLKTTQEP
LARDPVKLPT TAASTPDAVD KYLETPGDEN EHAHFQKAKE RLEAKHRERM SQVMREWEEA
ERQAKNLPKA DKKAVIQHFQ EKVESLEQEA ANERQQLVET HMARVEAMLN DRRRLALENY
ITALQAVPPR PRHVFNMLKK YVRAEQKDRQ HTLKHFEHVR MVDPKKAAQI RSQVMTHLRV
IYERMNQSLS LLYNVPAVAE EIQDEVDELL QKEQNYSDDV LANMISEPRI SYGNDALMPS
LTETKTTVEL LPVNGEFSLD DLQPWHSFGA DSVPANTENE VEPVDARPAA DRGLTTRPGS
GLTNIKTEEI SEVKMDAEFR HDSGYEVHHQ KLVFFAEDVG SNKGAIIGLM VGGVVIATVI
VITLVMLKKK QYTSIHHGVV EVDAAVTPEE RHLSKMQQNG YENPTYKFFE QMQN*

mutated AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVRVS QSLLKTTQEP
LARDPVKLPT TAASTPDAVD KYLETPGDEN EHAHFQKAKE RLEAKHRERM SQVMREWEEA
ERQAKNLPKA DKKAVIQHFQ EKVESLEQEA ANERQQLVET HMARVEAMLN DRRRLALENY
ITALQAVPPR PRHVFNMLKK YVRAEQKDRQ HTLKHFEHVR MVDPKKAAQI RSQVMTHLRV
IYERMNQSLS LLYNVPAVAE EIQDEVDELL QKEQNYSDDV LANMISEPRI SYGNDALMPS
LTETKTTVEL LPVNGEFSLD DLQPWHSFGA DSVPANTENE VEPVDARPAA DRGLTTRPGS
GLTNIKTEDI SEVKMDAEFR HDSGYEVHHQ KLVFFAEDVG SNKGAIIGLM VGGVVIATVI
VITLVMLKKK QYTSIHHGVV EVDAAVTPEE RHLSKMQQNG YENPTYKFFE QMQN*

speed

0.73 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999712265995617 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM940077)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27269954C>GN/A show variant in all transcripts IGV

HGNC symbol

APP

Ensembl transcript ID

ENST00000440126

Genbank transcript ID

NM_001136016

UniProt peptide

P05067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1923G>C
cDNA.2080G>C
g.273493G>C

AA changes

E641D Score: 45 explain score(s)

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

641

frameshift

known variant

Reference ID: rs63750363

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.739	1
	2.615	1
(flanking)	2.684	1

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

641

mutated

all conserved

641

Ptroglodytes

all identical

ENSPTRG00000013811

665

Mmulatta

all identical

ENSMMUG00000014384

665

Fcatus

all identical

ENSFCAG00000001556

646

Mmusculus

all identical

ENSMUSG00000022892

590

Ggallus

all identical

ENSGALG00000015770

646

Trubripes

not conserved

ENSTRUG00000010470

666

Drerio

all identical

ENSDARG00000055543

660

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

591

Xtropicalis

all identical

ENSXETG00000013612

666

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2241 / 2241

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

747 / 747

position of stopcodon in wt / mu cDNA

2398 / 2398

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

158 / 158

chromosome

strand

-1

last intron/exon boundary

2297

theoretical NMD boundary in CDS

2089

length of CDS

2241

coding sequence (CDS) position

1923

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

2080

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

273493

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

27269954

original gDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered gDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

original cDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered cDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

wildtype AA sequence

MDQLEDLLVL FINYVPTDGN AGLLAEPQIA MFCGRLNMHM NVQNGKWDSD PSGTKTCIDT
KEGILQYCQE VYPELQITNV VEANQPVTIQ NWCKRGRKQC KTHPHFVIPY RCLVGEFVSD
ALLVPDKCKF LHQERMDVCE THLHWHTVAK ETCSEKSTNL HDYGMLLPCG IDKFRGVEFV
CCPLAEESDN VDSADAEEDD SDVWWGGADT DYADGSEDKV VEVAEEEEVA EVEEEEADDD
EDDEDGDEVE EEAEEPYEEA TERTTSIATT TTTTTESVEE VVREVCSEQA ETGPCRAMIS
RWYFDVTEGK CAPFFYGGCG GNRNNFDTEE YCMAVCGSAI PTTAASTPDA VDKYLETPGD
ENEHAHFQKA KERLEAKHRE RMSQVMREWE EAERQAKNLP KADKKAVIQH FQEKVESLEQ
EAANERQQLV ETHMARVEAM LNDRRRLALE NYITALQAVP PRPRHVFNML KKYVRAEQKD
RQHTLKHFEH VRMVDPKKAA QIRSQVMTHL RVIYERMNQS LSLLYNVPAV AEEIQDEVDE
LLQKEQNYSD DVLANMISEP RISYGNDALM PSLTETKTTV ELLPVNGEFS LDDLQPWHSF
GADSVPANTE NEVEPVDARP AADRGLTTRP GSGLTNIKTE EISEVKMDAE FRHDSGYEVH
HQKLVFFAED VGSNKGAIIG LMVGGVVIAT VIVITLVMLK KKQYTSIHHG VVEVDAAVTP
EERHLSKMQQ NGYENPTYKF FEQMQN*

mutated AA sequence

MDQLEDLLVL FINYVPTDGN AGLLAEPQIA MFCGRLNMHM NVQNGKWDSD PSGTKTCIDT
KEGILQYCQE VYPELQITNV VEANQPVTIQ NWCKRGRKQC KTHPHFVIPY RCLVGEFVSD
ALLVPDKCKF LHQERMDVCE THLHWHTVAK ETCSEKSTNL HDYGMLLPCG IDKFRGVEFV
CCPLAEESDN VDSADAEEDD SDVWWGGADT DYADGSEDKV VEVAEEEEVA EVEEEEADDD
EDDEDGDEVE EEAEEPYEEA TERTTSIATT TTTTTESVEE VVREVCSEQA ETGPCRAMIS
RWYFDVTEGK CAPFFYGGCG GNRNNFDTEE YCMAVCGSAI PTTAASTPDA VDKYLETPGD
ENEHAHFQKA KERLEAKHRE RMSQVMREWE EAERQAKNLP KADKKAVIQH FQEKVESLEQ
EAANERQQLV ETHMARVEAM LNDRRRLALE NYITALQAVP PRPRHVFNML KKYVRAEQKD
RQHTLKHFEH VRMVDPKKAA QIRSQVMTHL RVIYERMNQS LSLLYNVPAV AEEIQDEVDE
LLQKEQNYSD DVLANMISEP RISYGNDALM PSLTETKTTV ELLPVNGEFS LDDLQPWHSF
GADSVPANTE NEVEPVDARP AADRGLTTRP GSGLTNIKTE DISEVKMDAE FRHDSGYEVH
HQKLVFFAED VGSNKGAIIG LMVGGVVIAT VIVITLVMLK KKQYTSIHHG VVEVDAAVTP
EERHLSKMQQ NGYENPTYKF FEQMQN*

speed

1.02 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999923741290388 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM940077)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27269954C>GN/A show variant in all transcripts IGV

HGNC symbol

APP

Ensembl transcript ID

ENST00000358918

Genbank transcript ID

NM_001204301

UniProt peptide

P05067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1941G>C
cDNA.2141G>C
g.273493G>C

AA changes

E647D Score: 45 explain score(s)

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

647

frameshift

known variant

Reference ID: rs63750363

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.739	1
	2.615	1
(flanking)	2.684	1

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

647

mutated

all conserved

647

Ptroglodytes

all identical

ENSPTRG00000013811

665

Mmulatta

all identical

ENSMMUG00000014384

665

Fcatus

all identical

ENSFCAG00000001556

646

Mmusculus

all identical

ENSMUSG00000022892

590

Ggallus

all identical

ENSGALG00000015770

646

Trubripes

not conserved

ENSTRUG00000010470

648

TLERGVPTR

Drerio

all identical

ENSDARG00000055543

645

Dmelanogaster

all conserved

FBgn0000108

397

Celegans

not conserved

C42D8.8

574

EDEDKN

Xtropicalis

all identical

ENSXETG00000013612

666

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost
647	647	CONFLICT	D -> E (in Ref. 35; AAA51722).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2259 / 2259

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

753 / 753

position of stopcodon in wt / mu cDNA

2459 / 2459

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

201 / 201

chromosome

strand

-1

last intron/exon boundary

2358

theoretical NMD boundary in CDS

2107

length of CDS

2259

coding sequence (CDS) position

1941

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

2141

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

273493

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

27269954

original gDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered gDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

original cDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered cDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

wildtype AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVREV CSEQAETGPC
RAMISRWYFD VTEGKCAPFF YGGCGGNRNN FDTEEYCMAV CGSAMSQSLL KTTQEPLARD
PVKLPTTAAS TPDAVDKYLE TPGDENEHAH FQKAKERLEA KHRERMSQVM REWEEAERQA
KNLPKADKKA VIQHFQEKVE SLEQEAANER QQLVETHMAR VEAMLNDRRR LALENYITAL
QAVPPRPRHV FNMLKKYVRA EQKDRQHTLK HFEHVRMVDP KKAAQIRSQV MTHLRVIYER
MNQSLSLLYN VPAVAEEIQD EVDELLQKEQ NYSDDVLANM ISEPRISYGN DALMPSLTET
KTTVELLPVN GEFSLDDLQP WHSFGADSVP ANTENEGSGL TNIKTEEISE VKMDAEFRHD
SGYEVHHQKL VFFAEDVGSN KGAIIGLMVG GVVIATVIVI TLVMLKKKQY TSIHHGVVEV
DAAVTPEERH LSKMQQNGYE NPTYKFFEQM QN*

mutated AA sequence

MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVREV CSEQAETGPC
RAMISRWYFD VTEGKCAPFF YGGCGGNRNN FDTEEYCMAV CGSAMSQSLL KTTQEPLARD
PVKLPTTAAS TPDAVDKYLE TPGDENEHAH FQKAKERLEA KHRERMSQVM REWEEAERQA
KNLPKADKKA VIQHFQEKVE SLEQEAANER QQLVETHMAR VEAMLNDRRR LALENYITAL
QAVPPRPRHV FNMLKKYVRA EQKDRQHTLK HFEHVRMVDP KKAAQIRSQV MTHLRVIYER
MNQSLSLLYN VPAVAEEIQD EVDELLQKEQ NYSDDVLANM ISEPRISYGN DALMPSLTET
KTTVELLPVN GEFSLDDLQP WHSFGADSVP ANTENEGSGL TNIKTEDISE VKMDAEFRHD
SGYEVHHQKL VFFAEDVGSN KGAIIGLMVG GVVIATVIVI TLVMLKKKQY TSIHHGVVEV
DAAVTPEERH LSKMQQNGYE NPTYKFFEQM QN*

speed

0.73 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999952776581086 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM940077)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27269954C>GN/A show variant in all transcripts IGV

HGNC symbol

APP

Ensembl transcript ID

ENST00000448388

Genbank transcript ID

NM_001136131

UniProt peptide

P05067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1665G>C
cDNA.1857G>C
g.273493G>C

AA changes

E555D Score: 45 explain score(s)

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

555

frameshift

known variant

Reference ID: rs63750363

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.739	1
	2.615	1
(flanking)	2.684	1

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

555

mutated

all conserved

555

Ptroglodytes

all identical

ENSPTRG00000013811

665

Mmulatta

all identical

ENSMMUG00000014384

665

Fcatus

all identical

ENSFCAG00000001556

646

Mmusculus

all identical

ENSMUSG00000022892

590

Ggallus

all identical

ENSGALG00000015770

646

Trubripes

not conserved

ENSTRUG00000010470

662

Drerio

all identical

ENSDARG00000055543

656

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

582

Xtropicalis

all identical

ENSXETG00000013612

666

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost
552	566	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1983 / 1983

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

661 / 661

position of stopcodon in wt / mu cDNA

2175 / 2175

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

193 / 193

chromosome

strand

-1

last intron/exon boundary

2074

theoretical NMD boundary in CDS

1831

length of CDS

1983

coding sequence (CDS) position

1665

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

1857

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

273493

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

27269954

original gDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered gDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

original cDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered cDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

wildtype AA sequence

MFCGRLNMHM NVQNGKWDSD PSGTKTCIDT KEGILQYCQE VYPELQITNV VEANQPVTIQ
NWCKRGRKQC KTHPHFVIPY RCLVGEFVSD ALLVPDKCKF LHQERMDVCE THLHWHTVAK
ETCSEKSTNL HDYGMLLPCG IDKFRGVEFV CCPLAEESDN VDSADAEEDD SDVWWGGADT
DYADGSEDKV VEVAEEEEVA EVEEEEADDD EDDEDGDEVE EEAEEPYEEA TERTTSIATT
TTTTTESVEE VVRVPTTAAS TPDAVDKYLE TPGDENEHAH FQKAKERLEA KHRERMSQVM
REWEEAERQA KNLPKADKKA VIQHFQEKVE SLEQEAANER QQLVETHMAR VEAMLNDRRR
LALENYITAL QAVPPRPRHV FNMLKKYVRA EQKDRQHTLK HFEHVRMVDP KKAAQIRSQV
MTHLRVIYER MNQSLSLLYN VPAVAEEIQD EVDELLQKEQ NYSDDVLANM ISEPRISYGN
DALMPSLTET KTTVELLPVN GEFSLDDLQP WHSFGADSVP ANTENEVEPV DARPAADRGL
TTRPGSGLTN IKTEEISEVK MDAEFRHDSG YEVHHQKLVF FAEDVGSNKG AIIGLMVGGV
VIATVIVITL VMLKKKQYTS IHHGVVEVDA AVTPEERHLS KMQQNGYENP TYKFFEQMQN
*

mutated AA sequence

MFCGRLNMHM NVQNGKWDSD PSGTKTCIDT KEGILQYCQE VYPELQITNV VEANQPVTIQ
NWCKRGRKQC KTHPHFVIPY RCLVGEFVSD ALLVPDKCKF LHQERMDVCE THLHWHTVAK
ETCSEKSTNL HDYGMLLPCG IDKFRGVEFV CCPLAEESDN VDSADAEEDD SDVWWGGADT
DYADGSEDKV VEVAEEEEVA EVEEEEADDD EDDEDGDEVE EEAEEPYEEA TERTTSIATT
TTTTTESVEE VVRVPTTAAS TPDAVDKYLE TPGDENEHAH FQKAKERLEA KHRERMSQVM
REWEEAERQA KNLPKADKKA VIQHFQEKVE SLEQEAANER QQLVETHMAR VEAMLNDRRR
LALENYITAL QAVPPRPRHV FNMLKKYVRA EQKDRQHTLK HFEHVRMVDP KKAAQIRSQV
MTHLRVIYER MNQSLSLLYN VPAVAEEIQD EVDELLQKEQ NYSDDVLANM ISEPRISYGN
DALMPSLTET KTTVELLPVN GEFSLDDLQP WHSFGADSVP ANTENEVEPV DARPAADRGL
TTRPGSGLTN IKTEDISEVK MDAEFRHDSG YEVHHQKLVF FAEDVGSNKG AIIGLMVGGV
VIATVIVITL VMLKKKQYTS IHHGVVEVDA AVTPEERHLS KMQQNGYENP TYKFFEQMQN
*

speed

0.71 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999963732021333 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM940077)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27269954C>GN/A show variant in all transcripts IGV

HGNC symbol

APP

Ensembl transcript ID

ENST00000354192

Genbank transcript ID

NM_001136129

UniProt peptide

P05067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1602G>C
cDNA.1729G>C
g.273493G>C

AA changes

E534D Score: 45 explain score(s)

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

534

frameshift

known variant

Reference ID: rs63750363

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.739	1
	2.615	1
(flanking)	2.684	1

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

534

mutated

all conserved

534

Ptroglodytes

all identical

ENSPTRG00000013811

665

Mmulatta

all identical

ENSMMUG00000014384

665

Fcatus

all identical

ENSFCAG00000001556

646

Mmusculus

all identical

ENSMUSG00000022892

590

Ggallus

all identical

ENSGALG00000015770

646

Trubripes

not conserved

ENSTRUG00000010470

666

Drerio

all identical

ENSDARG00000055543

661

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

567

Xtropicalis

all identical

ENSXETG00000013612

666

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost
520	546	HELIX		lost
523	540	REGION	Collagen-binding.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1920 / 1920

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

640 / 640

position of stopcodon in wt / mu cDNA

2047 / 2047

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

128 / 128

chromosome

strand

-1

last intron/exon boundary

1946

theoretical NMD boundary in CDS

1768

length of CDS

1920

coding sequence (CDS) position

1602

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

1729

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

273493

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

27269954

original gDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered gDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

original cDNA sequence snippet

ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA

altered cDNA sequence snippet

ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA

wildtype AA sequence

MLPGLALLLL AAWTARALEV YPELQITNVV EANQPVTIQN WCKRGRKQCK THPHFVIPYR
CLVGEFVSDA LLVPDKCKFL HQERMDVCET HLHWHTVAKE TCSEKSTNLH DYGMLLPCGI
DKFRGVEFVC CPLAEESDNV DSADAEEDDS DVWWGGADTD YADGSEDKVV EVAEEEEVAE
VEEEEADDDE DDEDGDEVEE EAEEPYEEAT ERTTSIATTT TTTTESVEEV VRVPTTAAST
PDAVDKYLET PGDENEHAHF QKAKERLEAK HRERMSQVMR EWEEAERQAK NLPKADKKAV
IQHFQEKVES LEQEAANERQ QLVETHMARV EAMLNDRRRL ALENYITALQ AVPPRPRHVF
NMLKKYVRAE QKDRQHTLKH FEHVRMVDPK KAAQIRSQVM THLRVIYERM NQSLSLLYNV
PAVAEEIQDE VDELLQKEQN YSDDVLANMI SEPRISYGND ALMPSLTETK TTVELLPVNG
EFSLDDLQPW HSFGADSVPA NTENEVEPVD ARPAADRGLT TRPGSGLTNI KTEEISEVKM
DAEFRHDSGY EVHHQKLVFF AEDVGSNKGA IIGLMVGGVV IATVIVITLV MLKKKQYTSI
HHGVVEVDAA VTPEERHLSK MQQNGYENPT YKFFEQMQN*

mutated AA sequence

MLPGLALLLL AAWTARALEV YPELQITNVV EANQPVTIQN WCKRGRKQCK THPHFVIPYR
CLVGEFVSDA LLVPDKCKFL HQERMDVCET HLHWHTVAKE TCSEKSTNLH DYGMLLPCGI
DKFRGVEFVC CPLAEESDNV DSADAEEDDS DVWWGGADTD YADGSEDKVV EVAEEEEVAE
VEEEEADDDE DDEDGDEVEE EAEEPYEEAT ERTTSIATTT TTTTESVEEV VRVPTTAAST
PDAVDKYLET PGDENEHAHF QKAKERLEAK HRERMSQVMR EWEEAERQAK NLPKADKKAV
IQHFQEKVES LEQEAANERQ QLVETHMARV EAMLNDRRRL ALENYITALQ AVPPRPRHVF
NMLKKYVRAE QKDRQHTLKH FEHVRMVDPK KAAQIRSQVM THLRVIYERM NQSLSLLYNV
PAVAEEIQDE VDELLQKEQN YSDDVLANMI SEPRISYGND ALMPSLTETK TTVELLPVNG
EFSLDDLQPW HSFGADSVPA NTENEVEPVD ARPAADRGLT TRPGSGLTNI KTEDISEVKM
DAEFRHDSGY EVHHQKLVFF AEDVGSNKGA IIGLMVGGVV IATVIVITLV MLKKKQYTSI
HHGVVEVDAA VTPEERHLSK MQQNGYENPT YKFFEQMQN*

speed

0.73 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

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