MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000341695
Querying Taster for transcript #2: ENST00000348706
Querying Taster for transcript #3: ENST00000354147
Querying Taster for transcript #4: ENST00000432483
Querying Taster for transcript #5: ENST00000357415
Querying Taster for transcript #6: ENST00000380004
MT speed 4.93 s - this script 5.265898 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PPA2	polymorphism_automatic	0.045269077241348	simple_aae		affected		K297N	single base exchange	rs13787		show file
PPA2	polymorphism_automatic	0.045269077241348	simple_aae		affected		K253N	single base exchange	rs13787		show file
PPA2	polymorphism_automatic	0.045269077241348	simple_aae		affected		K282N	single base exchange	rs13787		show file
PPA2	polymorphism_automatic	0.045269077241348	simple_aae		affected		K116N	single base exchange	rs13787		show file
PPA2	polymorphism_automatic	0.045269077241348	simple_aae		affected		K180N	single base exchange	rs13787		show file
PPA2	polymorphism_automatic	0.045269077241348	simple_aae		affected		K264N	single base exchange	rs13787		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.954730922758652 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:106317429C>GN/A show variant in all transcripts IGV

HGNC symbol

PPA2

Ensembl transcript ID

ENST00000357415

Genbank transcript ID

N/A

UniProt peptide

Q9H2U2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.891G>C
cDNA.905G>C
g.77810G>C

AA changes

K297N Score: 94 explain score(s)

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

297

frameshift

known variant

Reference ID: rs13787

database	homozygous (G/G)	heterozygous	allele carriers
1000G	595	977	1572
ExAC	13349	6069	19418

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.044	0.004
	-0.192	0.007
(flanking)	3.296	0.994

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	77811	wt: 0.9741 / mu: 0.9873 (marginal change - not scored)	wt: AGAAGTGTAATGGAG mu: AGAACTGTAATGGAG	AAGT\|gtaa
Donor increased	77814	wt: 0.43 / mu: 0.72	wt: AGTGTAATGGAGGAG mu: ACTGTAATGGAGGAG	TGTA\|atgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

297

mutated

not conserved

297

Ptroglodytes

all identical

ENSPTRG00000016335

282

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000004655

282

Mmusculus

all identical

ENSMUSG00000028013

277

Ggallus

all identical

ENSGALG00000010582

277

Trubripes

all conserved

ENSTRUG00000004694

198

Drerio

all identical

ENSDARG00000009685

287

Dmelanogaster

not conserved

FBgn0016687

284

Celegans

all conserved

C47E12.4

357

Xtropicalis

all identical

ENSXETG00000014102

251

protein features

start (aa)	end (aa)	feature	details
317	317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1050 / 1050

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

350 / 350

position of stopcodon in wt / mu cDNA

1064 / 1064

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

15 / 15

chromosome

strand

-1

last intron/exon boundary

1036

theoretical NMD boundary in CDS

971

length of CDS

1050

coding sequence (CDS) position

891

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

905

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

77810

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

106317429

original gDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered gDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

original cDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered cDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

wildtype AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEDTEAQG IFIDLSKIWE NGIPMKKARN DEYENLFNMI VEIPRWTNAK
MEIATKEPMN PIKQYVKDGK LRYVANIFPY KGYIWNYGTL PQTWEDPHEK DKSTNCFGDN
DPIDVCEIGS KILSCGEVIH VKILGILALI DEGETDWKLI AINANDPEAS KFHDIDDVKK
FKPGYLEATL NWFRLYKVPD GKPENQFAFN GEFKNKAFAL EVIKSTHQCW KALLMKKCNG
GAINCTNVQI SDSPFRCTQE EARSLVESVS SSPNKESNEE EQVWHFLGK*

mutated AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEDTEAQG IFIDLSKIWE NGIPMKKARN DEYENLFNMI VEIPRWTNAK
MEIATKEPMN PIKQYVKDGK LRYVANIFPY KGYIWNYGTL PQTWEDPHEK DKSTNCFGDN
DPIDVCEIGS KILSCGEVIH VKILGILALI DEGETDWKLI AINANDPEAS KFHDIDDVKK
FKPGYLEATL NWFRLYKVPD GKPENQFAFN GEFKNKAFAL EVIKSTHQCW KALLMKNCNG
GAINCTNVQI SDSPFRCTQE EARSLVESVS SSPNKESNEE EQVWHFLGK*

speed

0.90 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.954730922758652 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:106317429C>GN/A show variant in all transcripts IGV

HGNC symbol

PPA2

Ensembl transcript ID

ENST00000348706

Genbank transcript ID

NM_006903

UniProt peptide

Q9H2U2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.759G>C
cDNA.773G>C
g.77810G>C

AA changes

K253N Score: 94 explain score(s)

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

253

frameshift

known variant

Reference ID: rs13787

database	homozygous (G/G)	heterozygous	allele carriers
1000G	595	977	1572
ExAC	13349	6069	19418

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.044	0.004
	-0.192	0.007
(flanking)	3.296	0.994

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	77811	wt: 0.9741 / mu: 0.9873 (marginal change - not scored)	wt: AGAAGTGTAATGGAG mu: AGAACTGTAATGGAG	AAGT\|gtaa
Donor increased	77814	wt: 0.43 / mu: 0.72	wt: AGTGTAATGGAGGAG mu: ACTGTAATGGAGGAG	TGTA\|atgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

253

mutated

not conserved

253

Ptroglodytes

all identical

ENSPTRG00000016335

282

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000004655

282

Mmusculus

all identical

ENSMUSG00000028013

277

Ggallus

all identical

ENSGALG00000010582

277

Trubripes

all conserved

ENSTRUG00000004694

198

Drerio

all identical

ENSDARG00000009685

287

Dmelanogaster

not conserved

FBgn0016687

284

Celegans

all conserved

C47E12.4

357

Xtropicalis

all identical

ENSXETG00000014102

251

protein features

start (aa)	end (aa)	feature	details
261	261	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
276	276	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
288	288	CONFLICT	I -> T (in Ref. 7; CAB66590).	might get lost (downstream of altered splice site)
317	317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

918 / 918

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

306 / 306

position of stopcodon in wt / mu cDNA

932 / 932

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

15 / 15

chromosome

strand

-1

last intron/exon boundary

904

theoretical NMD boundary in CDS

839

length of CDS

918

coding sequence (CDS) position

759

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

773

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

77810

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

106317429

original gDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered gDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

original cDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered cDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

wildtype AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEENGIPM KKARNDEYEN LFNMIVEIPR WTNAKMEIAT KEPMNPIKQY
VKDGKLRYVA NIFPYKGYIW NYGTLPQILS CGEVIHVKIL GILALIDEGE TDWKLIAINA
NDPEASKFHD IDDVKKFKPG YLEATLNWFR LYKVPDGKPE NQFAFNGEFK NKAFALEVIK
STHQCWKALL MKKCNGGAIN CTNVQISDSP FRCTQEEARS LVESVSSSPN KESNEEEQVW
HFLGK*

mutated AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEENGIPM KKARNDEYEN LFNMIVEIPR WTNAKMEIAT KEPMNPIKQY
VKDGKLRYVA NIFPYKGYIW NYGTLPQILS CGEVIHVKIL GILALIDEGE TDWKLIAINA
NDPEASKFHD IDDVKKFKPG YLEATLNWFR LYKVPDGKPE NQFAFNGEFK NKAFALEVIK
STHQCWKALL MKNCNGGAIN CTNVQISDSP FRCTQEEARS LVESVSSSPN KESNEEEQVW
HFLGK*

speed

0.24 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.954730922758652 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:106317429C>GN/A show variant in all transcripts IGV

HGNC symbol

PPA2

Ensembl transcript ID

ENST00000341695

Genbank transcript ID

NM_176869

UniProt peptide

Q9H2U2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.846G>C
cDNA.877G>C
g.77810G>C

AA changes

K282N Score: 94 explain score(s)

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

282

frameshift

known variant

Reference ID: rs13787

database	homozygous (G/G)	heterozygous	allele carriers
1000G	595	977	1572
ExAC	13349	6069	19418

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.044	0.004
	-0.192	0.007
(flanking)	3.296	0.994

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	77811	wt: 0.9741 / mu: 0.9873 (marginal change - not scored)	wt: AGAAGTGTAATGGAG mu: AGAACTGTAATGGAG	AAGT\|gtaa
Donor increased	77814	wt: 0.43 / mu: 0.72	wt: AGTGTAATGGAGGAG mu: ACTGTAATGGAGGAG	TGTA\|atgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

282

mutated

not conserved

282

Ptroglodytes

all identical

ENSPTRG00000016335

282

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000004655

282

Mmusculus

all identical

ENSMUSG00000028013

277

Ggallus

all identical

ENSGALG00000010582

277

Trubripes

all conserved

ENSTRUG00000004694

198

Drerio

all identical

ENSDARG00000009685

287

Dmelanogaster

not conserved

FBgn0016687

284

Celegans

all conserved

C47E12.4

357

Xtropicalis

all identical

ENSXETG00000014102

251

protein features

start (aa)	end (aa)	feature	details
288	288	CONFLICT	I -> T (in Ref. 7; CAB66590).	might get lost (downstream of altered splice site)
317	317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1005 / 1005

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

335 / 335

position of stopcodon in wt / mu cDNA

1036 / 1036

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

32 / 32

chromosome

strand

-1

last intron/exon boundary

1008

theoretical NMD boundary in CDS

926

length of CDS

1005

coding sequence (CDS) position

846

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

877

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

77810

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

106317429

original gDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered gDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

original cDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered cDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

wildtype AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEENGIPM KKARNDEYEN LFNMIVEIPR WTNAKMEIAT KEPMNPIKQY
VKDGKLRYVA NIFPYKGYIW NYGTLPQTWE DPHEKDKSTN CFGDNDPIDV CEIGSKILSC
GEVIHVKILG ILALIDEGET DWKLIAINAN DPEASKFHDI DDVKKFKPGY LEATLNWFRL
YKVPDGKPEN QFAFNGEFKN KAFALEVIKS THQCWKALLM KKCNGGAINC TNVQISDSPF
RCTQEEARSL VESVSSSPNK ESNEEEQVWH FLGK*

mutated AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEENGIPM KKARNDEYEN LFNMIVEIPR WTNAKMEIAT KEPMNPIKQY
VKDGKLRYVA NIFPYKGYIW NYGTLPQTWE DPHEKDKSTN CFGDNDPIDV CEIGSKILSC
GEVIHVKILG ILALIDEGET DWKLIAINAN DPEASKFHDI DDVKKFKPGY LEATLNWFRL
YKVPDGKPEN QFAFNGEFKN KAFALEVIKS THQCWKALLM KNCNGGAINC TNVQISDSPF
RCTQEEARSL VESVSSSPNK ESNEEEQVWH FLGK*

speed

1.11 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.954730922758652 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:106317429C>GN/A show variant in all transcripts IGV

HGNC symbol

PPA2

Ensembl transcript ID

ENST00000354147

Genbank transcript ID

NM_176867

UniProt peptide

Q9H2U2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.348G>C
cDNA.348G>C
g.77810G>C

AA changes

K116N Score: 94 explain score(s)

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

116

frameshift

known variant

Reference ID: rs13787

database	homozygous (G/G)	heterozygous	allele carriers
1000G	595	977	1572
ExAC	13349	6069	19418

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.044	0.004
	-0.192	0.007
(flanking)	3.296	0.994

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	77811	wt: 0.9741 / mu: 0.9873 (marginal change - not scored)	wt: AGAAGTGTAATGGAG mu: AGAACTGTAATGGAG	AAGT\|gtaa
Donor increased	77814	wt: 0.43 / mu: 0.72	wt: AGTGTAATGGAGGAG mu: ACTGTAATGGAGGAG	TGTA\|atgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

116

mutated

not conserved

116

Ptroglodytes

all identical

ENSPTRG00000016335

282

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000004655

282

Mmusculus

all identical

ENSMUSG00000028013

277

Ggallus

all identical

ENSGALG00000010582

277

Trubripes

all conserved

ENSTRUG00000004694

198

Drerio

all identical

ENSDARG00000009685

287

Dmelanogaster

not conserved

FBgn0016687

284

Celegans

all conserved

C47E12.4

357

Xtropicalis

all identical

ENSXETG00000014102

251

protein features

start (aa)	end (aa)	feature	details
164	164	METAL	Magnesium 1 (By similarity).	might get lost (downstream of altered splice site)
169	169	METAL	Magnesium 1 (By similarity).	might get lost (downstream of altered splice site)
169	169	METAL	Magnesium 2 (By similarity).	might get lost (downstream of altered splice site)
201	201	METAL	Magnesium 1 (By similarity).	might get lost (downstream of altered splice site)
216	216	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
241	241	CONFLICT	Y -> C (in Ref. 7; CAB66590).	might get lost (downstream of altered splice site)
261	261	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
276	276	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
288	288	CONFLICT	I -> T (in Ref. 7; CAB66590).	might get lost (downstream of altered splice site)
317	317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

507 / 507

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

169 / 169

position of stopcodon in wt / mu cDNA

507 / 507

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

479

theoretical NMD boundary in CDS

428

length of CDS

507

coding sequence (CDS) position

348

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

348

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

77810

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

106317429

original gDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered gDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

original cDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered cDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

wildtype AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFNIDDVKKF
KPGYLEATLN WFRLYKVPDG KPENQFAFNG EFKNKAFALE VIKSTHQCWK ALLMKKCNGG
AINCTNVQIS DSPFRCTQEE ARSLVESVSS SPNKESNEEE QVWHFLGK*

mutated AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFNIDDVKKF
KPGYLEATLN WFRLYKVPDG KPENQFAFNG EFKNKAFALE VIKSTHQCWK ALLMKNCNGG
AINCTNVQIS DSPFRCTQEE ARSLVESVSS SPNKESNEEE QVWHFLGK*

speed

0.69 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.954730922758652 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:106317429C>GN/A show variant in all transcripts IGV

HGNC symbol

PPA2

Ensembl transcript ID

ENST00000432483

Genbank transcript ID

NM_176866

UniProt peptide

Q9H2U2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.540G>C
cDNA.540G>C
g.77810G>C

AA changes

K180N Score: 94 explain score(s)

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

180

frameshift

known variant

Reference ID: rs13787

database	homozygous (G/G)	heterozygous	allele carriers
1000G	595	977	1572
ExAC	13349	6069	19418

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.044	0.004
	-0.192	0.007
(flanking)	3.296	0.994

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	77811	wt: 0.9741 / mu: 0.9873 (marginal change - not scored)	wt: AGAAGTGTAATGGAG mu: AGAACTGTAATGGAG	AAGT\|gtaa
Donor increased	77814	wt: 0.43 / mu: 0.72	wt: AGTGTAATGGAGGAG mu: ACTGTAATGGAGGAG	TGTA\|atgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

180

mutated

not conserved

180

Ptroglodytes

all identical

ENSPTRG00000016335

282

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000004655

282

Mmusculus

all identical

ENSMUSG00000028013

277

Ggallus

all identical

ENSGALG00000010582

277

Trubripes

all conserved

ENSTRUG00000004694

198

Drerio

all identical

ENSDARG00000009685

287

Dmelanogaster

not conserved

FBgn0016687

284

Celegans

all conserved

C47E12.4

357

Xtropicalis

all identical

ENSXETG00000014102

251

protein features

start (aa)	end (aa)	feature	details
201	201	METAL	Magnesium 1 (By similarity).	might get lost (downstream of altered splice site)
216	216	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
241	241	CONFLICT	Y -> C (in Ref. 7; CAB66590).	might get lost (downstream of altered splice site)
261	261	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
276	276	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
288	288	CONFLICT	I -> T (in Ref. 7; CAB66590).	might get lost (downstream of altered splice site)
317	317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

699 / 699

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

233 / 233

position of stopcodon in wt / mu cDNA

699 / 699

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

671

theoretical NMD boundary in CDS

620

length of CDS

699

coding sequence (CDS) position

540

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

540

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

77810

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

106317429

original gDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered gDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

original cDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered cDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

wildtype AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEILSCGE VIHVKILGIL ALIDEGETDW KLIAINANDP EASKFHDIDD
VKKFKPGYLE ATLNWFRLYK VPDGKPENQF AFNGEFKNKA FALEVIKSTH QCWKALLMKK
CNGGAINCTN VQISDSPFRC TQEEARSLVE SVSSSPNKES NEEEQVWHFL GK*

mutated AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEILSCGE VIHVKILGIL ALIDEGETDW KLIAINANDP EASKFHDIDD
VKKFKPGYLE ATLNWFRLYK VPDGKPENQF AFNGEFKNKA FALEVIKSTH QCWKALLMKN
CNGGAINCTN VQISDSPFRC TQEEARSLVE SVSSSPNKES NEEEQVWHFL GK*

speed

1.07 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.954730922758652 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:106317429C>GN/A show variant in all transcripts IGV

HGNC symbol

PPA2

Ensembl transcript ID

ENST00000380004

Genbank transcript ID

N/A

UniProt peptide

Q9H2U2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.792G>C
cDNA.806G>C
g.77810G>C

AA changes

K264N Score: 94 explain score(s)

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

264

frameshift

known variant

Reference ID: rs13787

database	homozygous (G/G)	heterozygous	allele carriers
1000G	595	977	1572
ExAC	13349	6069	19418

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.044	0.004
	-0.192	0.007
(flanking)	3.296	0.994

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	77811	wt: 0.9741 / mu: 0.9873 (marginal change - not scored)	wt: AGAAGTGTAATGGAG mu: AGAACTGTAATGGAG	AAGT\|gtaa
Donor increased	77814	wt: 0.43 / mu: 0.72	wt: AGTGTAATGGAGGAG mu: ACTGTAATGGAGGAG	TGTA\|atgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

264

mutated

not conserved

264

Ptroglodytes

all identical

ENSPTRG00000016335

282

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000004655

282

Mmusculus

all identical

ENSMUSG00000028013

277

Ggallus

all identical

ENSGALG00000010582

277

Trubripes

all conserved

ENSTRUG00000004694

198

Drerio

all identical

ENSDARG00000009685

287

Dmelanogaster

not conserved

FBgn0016687

284

Celegans

all conserved

C47E12.4

357

Xtropicalis

all identical

ENSXETG00000014102

251

protein features

start (aa)	end (aa)	feature	details
276	276	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
288	288	CONFLICT	I -> T (in Ref. 7; CAB66590).	might get lost (downstream of altered splice site)
317	317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

951 / 951

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

317 / 317

position of stopcodon in wt / mu cDNA

965 / 965

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

15 / 15

chromosome

strand

-1

last intron/exon boundary

937

theoretical NMD boundary in CDS

872

length of CDS

951

coding sequence (CDS) position

792

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

806

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

77810

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

106317429

original gDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered gDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

original cDNA sequence snippet

AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA

altered cDNA sequence snippet

AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA

wildtype AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEENGIPM KKARNDEYEI ATKEPMNPIK QYVKDGKLRY VANIFPYKGY
IWNYGTLPQT WEDPHEKDKS TNCFGDNDPI DVCEIGSKIL SCGEVIHVKI LGILALIDEG
ETDWKLIAIN ANDPEASKFH DIDDVKKFKP GYLEATLNWF RLYKVPDGKP ENQFAFNGEF
KNKAFALEVI KSTHQCWKAL LMKKCNGGAI NCTNVQISDS PFRCTQEEAR SLVESVSSSP
NKESNEEEQV WHFLGK*

mutated AA sequence

MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEENGIPM KKARNDEYEI ATKEPMNPIK QYVKDGKLRY VANIFPYKGY
IWNYGTLPQT WEDPHEKDKS TNCFGDNDPI DVCEIGSKIL SCGEVIHVKI LGILALIDEG
ETDWKLIAIN ANDPEASKFH DIDDVKKFKP GYLEATLNWF RLYKVPDGKP ENQFAFNGEF
KNKAFALEVI KSTHQCWKAL LMKNCNGGAI NCTNVQISDS PFRCTQEEAR SLVESVSSSP
NKESNEEEQV WHFLGK*

speed

0.92 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems