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 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 2.86381 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
APP	disease_causing_automatic	0.999999999999877	simple_aae			0	V586G	single base exchange	rs63749964		show file
APP	disease_causing_automatic	0.999999999999877	simple_aae			0	V642G	single base exchange	rs63749964		show file
APP	disease_causing_automatic	0.999999999999877	simple_aae			0	V661G	single base exchange	rs63749964		show file
APP	disease_causing_automatic	0.999999999999877	simple_aae			0	V661G	single base exchange	rs63749964		show file
APP	disease_causing_automatic	0.999999999999877	simple_aae			0	V607G	single base exchange	rs63749964		show file
APP	disease_causing_automatic	0.999999999999922	simple_aae			0	V693G	single base exchange	rs63749964		show file
APP	disease_causing_automatic	0.99999999999993	simple_aae			0	V717G	single base exchange	rs63749964		show file
APP	disease_causing_automatic	0.999999999999983	simple_aae			0	V698G	single base exchange	rs63749964		show file
APP	disease_causing_automatic	0.999999999999983	simple_aae			0	V699G	single base exchange	rs63749964		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999877 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM910039)
known disease mutation: rs18090 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27264095A>CN/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.1757T>G
cDNA.1884T>G
g.279352T>G

AA changes

V586G Score: 109 explain score(s)

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

586

frameshift

known variant

Reference ID: rs63749964
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs18090 (pathogenic for Alzheimer disease, type 1|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM910039)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910039)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910039)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.956	1
	4.745	1
(flanking)	5.732	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	279344	wt: 0.7349 / mu: 0.7902 (marginal change - not scored)	wt: GCGACAGTGATCGTC mu: GCGACAGTGATCGGC	GACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

586

mutated

not conserved

586

Ptroglodytes

all identical

ENSPTRG00000013811

717

Mmulatta

all identical

ENSMMUG00000014384

717

Fcatus

all identical

ENSFCAG00000001556

698

Mmusculus

all identical

ENSMUSG00000022892

642

Ggallus

all identical

ENSGALG00000015770

698

Trubripes

all identical

ENSTRUG00000010470

711

Drerio

all identical

ENSDARG00000055543

698

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

635

Xtropicalis

all identical

ENSXETG00000013612

718

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

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

1757

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

1884

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

279352

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

27264095

original gDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered gDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

original cDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered cDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

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 KTEEISEVKM
DAEFRHDSGY EVHHQKLVFF AEDVGSNKGA IIGLMVGGVV IATVIGITLV MLKKKQYTSI
HHGVVEVDAA VTPEERHLSK MQQNGYENPT YKFFEQMQN*

speed

0.12 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: 0.999999999999877 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM910039)
known disease mutation: rs18090 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27264095A>CN/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.1925T>G
cDNA.2072T>G
g.279352T>G

AA changes

V642G Score: 109 explain score(s)

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

642

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.956	1
	4.745	1
(flanking)	5.732	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	279344	wt: 0.7349 / mu: 0.7902 (marginal change - not scored)	wt: GCGACAGTGATCGTC mu: GCGACAGTGATCGGC	GACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

642

mutated

not conserved

642

Ptroglodytes

all identical

ENSPTRG00000013811

717

Mmulatta

all identical

ENSMMUG00000014384

717

Fcatus

all identical

ENSFCAG00000001556

698

Mmusculus

all identical

ENSMUSG00000022892

642

Ggallus

all identical

ENSGALG00000015770

698

Trubripes

all identical

ENSTRUG00000010470

711

Drerio

all identical

ENSDARG00000055543

698

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

635

Xtropicalis

all identical

ENSXETG00000013612

718

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

1925

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

2072

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

279352

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

27264095

original gDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered gDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

original cDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered cDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

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 SGLTNIKTEE ISEVKMDAEF
RHDSGYEVHH QKLVFFAEDV GSNKGAIIGL MVGGVVIATV IGITLVMLKK KQYTSIHHGV
VEVDAAVTPE ERHLSKMQQN GYENPTYKFF EQMQN*

speed

0.22 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999877 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM910039)
known disease mutation: rs18090 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27264095A>CN/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.1982T>G
cDNA.2016T>G
g.279352T>G

AA changes

V661G Score: 109 explain score(s)

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

661

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.956	1
	4.745	1
(flanking)	5.732	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	279344	wt: 0.7349 / mu: 0.7902 (marginal change - not scored)	wt: GCGACAGTGATCGTC mu: GCGACAGTGATCGGC	GACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

661

mutated

not conserved

661

Ptroglodytes

all identical

ENSPTRG00000013811

717

Mmulatta

all identical

ENSMMUG00000014384

717

Fcatus

all identical

ENSFCAG00000001556

698

Mmusculus

all identical

ENSMUSG00000022892

642

Ggallus

all identical

ENSGALG00000015770

698

Trubripes

all identical

ENSTRUG00000010470

711

Drerio

all identical

ENSDARG00000055543

702

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

634

Xtropicalis

all identical

ENSXETG00000013612

718

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

1982

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

2016

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

279352

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

27264095

original gDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered gDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

original cDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered cDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

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
GLTNIKTEEI SEVKMDAEFR HDSGYEVHHQ KLVFFAEDVG SNKGAIIGLM VGGVVIATVI
GITLVMLKKK QYTSIHHGVV EVDAAVTPEE RHLSKMQQNG YENPTYKFFE QMQN*

speed

0.13 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999877 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM910039)
known disease mutation: rs18090 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27264095A>CN/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.1982T>G
cDNA.2182T>G
g.279352T>G

AA changes

V661G Score: 109 explain score(s)

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

661

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.956	1
	4.745	1
(flanking)	5.732	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	279344	wt: 0.7349 / mu: 0.7902 (marginal change - not scored)	wt: GCGACAGTGATCGTC mu: GCGACAGTGATCGGC	GACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

661

mutated

not conserved

661

Ptroglodytes

all identical

ENSPTRG00000013811

717

Mmulatta

all identical

ENSMMUG00000014384

717

Fcatus

all identical

ENSFCAG00000001556

698

Mmusculus

all identical

ENSMUSG00000022892

642

Ggallus

all identical

ENSGALG00000015770

698

Trubripes

all identical

ENSTRUG00000010470

711

Drerio

all identical

ENSDARG00000055543

698

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

635

Xtropicalis

all identical

ENSXETG00000013612

718

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

1982

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

2182

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

279352

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

27264095

original gDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered gDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

original cDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered cDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

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
GLTNIKTEEI SEVKMDAEFR HDSGYEVHHQ KLVFFAEDVG SNKGAIIGLM VGGVVIATVI
GITLVMLKKK QYTSIHHGVV EVDAAVTPEE RHLSKMQQNG YENPTYKFFE QMQN*

speed

0.12 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999877 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM910039)
known disease mutation: rs18090 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27264095A>CN/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.1820T>G
cDNA.2012T>G
g.279352T>G

AA changes

V607G Score: 109 explain score(s)

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

607

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.956	1
	4.745	1
(flanking)	5.732	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	279344	wt: 0.7349 / mu: 0.7902 (marginal change - not scored)	wt: GCGACAGTGATCGTC mu: GCGACAGTGATCGGC	GACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

607

mutated

not conserved

607

Ptroglodytes

all identical

ENSPTRG00000013811

717

Mmulatta

all identical

ENSMMUG00000014384

717

Fcatus

all identical

ENSFCAG00000001556

698

Mmusculus

all identical

ENSMUSG00000022892

642

Ggallus

all identical

ENSGALG00000015770

698

Trubripes

all identical

ENSTRUG00000010470

711

Drerio

all identical

ENSDARG00000055543

698

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

635

Xtropicalis

all identical

ENSXETG00000013612

718

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

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

1820

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

2012

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

279352

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

27264095

original gDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered gDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

original cDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered cDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

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 IKTEEISEVK MDAEFRHDSG YEVHHQKLVF FAEDVGSNKG AIIGLMVGGV
VIATVIGITL VMLKKKQYTS IHHGVVEVDA AVTPEERHLS KMQQNGYENP TYKFFEQMQN
*

speed

0.18 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999922 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM910039)
known disease mutation: rs18090 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27264095A>CN/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.2078T>G
cDNA.2235T>G
g.279352T>G

AA changes

V693G Score: 109 explain score(s)

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

693

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.956	1
	4.745	1
(flanking)	5.732	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	279344	wt: 0.7349 / mu: 0.7902 (marginal change - not scored)	wt: GCGACAGTGATCGTC mu: GCGACAGTGATCGGC	GACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

693

mutated

not conserved

693

Ptroglodytes

all identical

ENSPTRG00000013811

717

Mmulatta

all identical

ENSMMUG00000014384

717

Fcatus

all identical

ENSFCAG00000001556

698

Mmusculus

all identical

ENSMUSG00000022892

642

Ggallus

all identical

ENSGALG00000015770

698

Trubripes

all identical

ENSTRUG00000010470

711

Drerio

all identical

ENSDARG00000055543

698

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

635

Xtropicalis

all identical

ENSXETG00000013612

718

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost
688	711	PEPTIDE	P3(40). /FTId=PRO_0000000096.	lost
688	713	PEPTIDE	P3(42). /FTId=PRO_0000000095.	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

2078

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

2235

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

279352

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

27264095

original gDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered gDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

original cDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered cDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

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 EISEVKMDAE FRHDSGYEVH
HQKLVFFAED VGSNKGAIIG LMVGGVVIAT VIGITLVMLK KKQYTSIHHG VVEVDAAVTP
EERHLSKMQQ NGYENPTYKF FEQMQN*

speed

0.11 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999999999993 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM910039)
known disease mutation: rs18090 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27264095A>CN/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.2150T>G
cDNA.2184T>G
g.279352T>G

AA changes

V717G Score: 109 explain score(s)

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

717

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.956	1
	4.745	1
(flanking)	5.732	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	279344	wt: 0.7349 / mu: 0.7902 (marginal change - not scored)	wt: GCGACAGTGATCGTC mu: GCGACAGTGATCGGC	GACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

717

mutated

not conserved

717

Ptroglodytes

all identical

ENSPTRG00000013811

717

Mmulatta

all identical

ENSMMUG00000014384

717

Fcatus

all identical

ENSFCAG00000001556

698

Mmusculus

all identical

ENSMUSG00000022892

642

Ggallus

all identical

ENSGALG00000015770

698

Trubripes

all identical

ENSTRUG00000010470

711

Drerio

all identical

ENSDARG00000055543

698

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

634

Xtropicalis

all identical

ENSXETG00000013612

718

protein features

start (aa)	end (aa)	feature	details
700	723	TRANSMEM	Helical; (Potential).	lost
717	717	MUTAGEN	V->C,S: Unchanged beta-APP42/total APP- beta ratio.	lost
717	717	MUTAGEN	V->F,G,I: Increased beta-APP42/beta-APP40 ratio.	lost
717	717	MUTAGEN	V->K: Decreased beta-APP42/total APP-beta ratio.	lost
717	717	MUTAGEN	V->M: Increased beta-APP42/beta-APP40 ratio. No change in apoptosis after caspase cleavage.	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

2150

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

2184

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

279352

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

27264095

original gDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered gDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

original cDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered cDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

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
IKTEEISEVK MDAEFRHDSG YEVHHQKLVF FAEDVGSNKG AIIGLMVGGV VIATVIGITL
VMLKKKQYTS IHHGVVEVDA AVTPEERHLS KMQQNGYENP TYKFFEQMQN *

speed

0.14 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM910039)
known disease mutation: rs18090 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27264095A>CN/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.2093T>G
cDNA.2260T>G
g.279352T>G

AA changes

V698G Score: 109 explain score(s)

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

698

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.956	1
	4.745	1
(flanking)	5.732	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	279344	wt: 0.7349 / mu: 0.7902 (marginal change - not scored)	wt: GCGACAGTGATCGTC mu: GCGACAGTGATCGGC	GACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

698

mutated

not conserved

698

Ptroglodytes

all identical

ENSPTRG00000013811

717

Mmulatta

all identical

ENSMMUG00000014384

717

Fcatus

all identical

ENSFCAG00000001556

698

Mmusculus

all identical

ENSMUSG00000022892

642

Ggallus

all identical

ENSGALG00000015770

698

Trubripes

all identical

ENSTRUG00000010470

711

Drerio

all identical

ENSDARG00000055543

698

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

635

Xtropicalis

all identical

ENSXETG00000013612

718

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost
688	711	PEPTIDE	P3(40). /FTId=PRO_0000000096.	lost
688	713	PEPTIDE	P3(42). /FTId=PRO_0000000095.	lost
698	700	STRAND		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

2093

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

2260

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

279352

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

27264095

original gDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered gDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

original cDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered cDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

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 NIKTEEISEV KMDAEFRHDS
GYEVHHQKLV FFAEDVGSNK GAIIGLMVGG VVIATVIGIT LVMLKKKQYT SIHHGVVEVD
AAVTPEERHL SKMQQNGYEN PTYKFFEQMQ N*

speed

0.13 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM910039)
known disease mutation: rs18090 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:27264095A>CN/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.2096T>G
cDNA.2296T>G
g.279352T>G

AA changes

V699G Score: 109 explain score(s)

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

699

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.956	1
	4.745	1
(flanking)	5.732	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	279344	wt: 0.7349 / mu: 0.7902 (marginal change - not scored)	wt: GCGACAGTGATCGTC mu: GCGACAGTGATCGGC	GACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

699

mutated

not conserved

699

Ptroglodytes

all identical

ENSPTRG00000013811

717

Mmulatta

all identical

ENSMMUG00000014384

717

Fcatus

all identical

ENSFCAG00000001556

698

Mmusculus

all identical

ENSMUSG00000022892

642

Ggallus

all identical

ENSGALG00000015770

698

Trubripes

all identical

ENSTRUG00000010470

711

Drerio

all identical

ENSDARG00000055543

697

Dmelanogaster

no alignment

FBgn0000108

n/a

Celegans

not conserved

C42D8.8

634

Xtropicalis

all identical

ENSXETG00000013612

718

protein features

start (aa)	end (aa)	feature	details
18	699	TOPO_DOM	Extracellular (Potential).	lost
688	711	PEPTIDE	P3(40). /FTId=PRO_0000000096.	lost
688	713	PEPTIDE	P3(42). /FTId=PRO_0000000095.	lost
698	700	STRAND		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

2096

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

2296

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

279352

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

27264095

original gDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered gDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

original cDNA sequence snippet

TGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA

altered cDNA sequence snippet

TGTCATAGCGACAGTGATCGGCATCACCTTGGTGATGCTGA

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 TNIKTEEISE VKMDAEFRHD
SGYEVHHQKL VFFAEDVGSN KGAIIGLMVG GVVIATVIGI TLVMLKKKQY TSIHHGVVEV
DAAVTPEERH LSKMQQNGYE NPTYKFFEQM QN*

speed

0.18 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