MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000541714
Querying Taster for transcript #2: ENST00000539908
Querying Taster for transcript #3: ENST00000589378
Querying Taster for transcript #4: ENST00000587686
Querying Taster for transcript #5: ENST00000262968
Querying Taster for transcript #6: ENST00000382008
MT speed 0 s - this script 6.062459 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TJP3	polymorphism_automatic	7.6978701191166e-10	simple_aae		affected		M898T	single base exchange	rs1046268		show file
TJP3	polymorphism_automatic	7.6978701191166e-10	simple_aae		affected		M862T	single base exchange	rs1046268		show file
TJP3	polymorphism_automatic	7.6978701191166e-10	simple_aae		affected		M907T	single base exchange	rs1046268		show file
TJP3	polymorphism_automatic	7.6978701191166e-10	simple_aae		affected		M931T	single base exchange	rs1046268		show file
TJP3	polymorphism_automatic	7.6978701191166e-10	simple_aae		affected		M917T	single base exchange	rs1046268		show file
TJP3	polymorphism_automatic	7.6978701191166e-10	simple_aae		affected		M912T	single base exchange	rs1046268		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999230213 (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)

chr19:3750615T>CN/A show variant in all transcripts IGV

HGNC symbol

TJP3

Ensembl transcript ID

ENST00000541714

Genbank transcript ID

N/A

UniProt peptide

O95049

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2693T>C
cDNA.3155T>C
g.42509T>C

AA changes

M898T Score: 81 explain score(s)

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

898

frameshift

known variant

Reference ID: rs1046268

database	homozygous (C/C)	heterozygous	allele carriers
1000G	760	1151	1911
ExAC	16744	-721	16023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.422	0.56
	0.609	0.291
(flanking)	-2.264	0.004

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	42508	wt: 0.9480 / mu: 0.9843 (marginal change - not scored)	wt: AGTTTATGCGAGTAC mu: AGTTTACGCGAGTAC	TTTA\|tgcg
Donor increased	42503	wt: 0.45 / mu: 0.57	wt: GAAAAAGTTTATGCG mu: GAAAAAGTTTACGCG	AAAA\|gttt
Donor gained	42504	0.41	mu: AAAAAGTTTACGCGA	AAAG\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

898

mutated

not conserved

898

Ptroglodytes

not conserved

ENSPTRG00000010274

931

Mmulatta

all conserved

ENSMMUG00000028930

355

Fcatus

no alignment

ENSFCAG00000007142

n/a

Mmusculus

not conserved

ENSMUSG00000034917

883

Ggallus

not conserved

ENSGALG00000000748

916

Trubripes

not conserved

ENSTRUG00000018210

896

DDEEEA

Drerio

no alignment

ENSDARG00000002909

n/a

Dmelanogaster

no alignment

FBgn0262614

n/a

Celegans

no alignment

Y105E8A.26

n/a

Xtropicalis

not conserved

ENSXETG00000006407

885

protein features

start (aa)	end (aa)	feature	details
919	919	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
920	920	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

2760 / 2760

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

920 / 920

position of stopcodon in wt / mu cDNA

3222 / 3222

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

463 / 463

chromosome

strand

last intron/exon boundary

3120

theoretical NMD boundary in CDS

2607

length of CDS

2760

coding sequence (CDS) position

2693

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

3155

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

42509

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

3750615

original gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

original cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

wildtype AA sequence

MEELTIWEQH TATLSKDPRR GFGIAISGGR DRPGGSMVVS DVVPGGPAEG RLQTGDHIVM
VNGVSMENAT SAFAIQILKT CTKMANITVK RPRRIHLPAT KASPSSPGRQ DSDEDDGPQR
VEEVDQGRGY DGDSSSGSGR SWDERSRRPR PGRRGRAGSH GRRSPGGGSE ANGLALVSGF
KRLPRQDVQM KPVKSVLVKR RDSEEFGVKL GSQIFIKHIT DSGLAARHRG LQEGDLILQI
NGVSSQNLSL NDTRRLIEKS EGKLSLLVLR DRGQFLVNIP PAVSDSDSSP LEDISDLASE
LSQAPPSHIP PPPRHAQRSP EASQTDSPVE SPRLRRESSV DSRTISEPDE QRSELPRESS
YDIYRVPSSQ SMEDRGYSPD TRVVRFLKGK SIGLRLAGGN DVGIFVSGVQ AGSPADGQGI
QEGDQILQVN DVPFQNLTRE EAVQFLLGLP PGEEMELVTQ RKQDIFWKMV QSRVGDSFYI
RTHFELEPSP PSGLGFTRGD VFHVLDTLHP GPGQSHARGG HWLAVRMGRD LREQERGIIP
NQSRAEQLAS LEAAQRAVGV GPGSSAGSNA RAEFWRLRGL RRGAKKTTQR SREDLSALTR
QGRYPPYERV VLREASFKRP VVILGPVADI AMQKLTAEMP DQFEIAETVS RTDSPSKIIK
LDTVRVIAEK DKHALLDVTP SAIERLNYVQ YYPIVVFFIP ESRPALKALR QWLAPASRRS
TRRLYAQAQK LRKHSSHLFT ATIPLNGTSD TWYQELKAII REQQTRPIWT AEDQLDGSLE
DNLDLPHHGL ADSSADLSCD SRVNSDYETD GEGGAYTDGE GYTDGEGGPY TDVDDEPPAP
ALARSSEPVQ ADESQSPRDR GRISAHQGAQ VDSRHPQGQW RQDSMRTYER EALKKKFMRV
HDAESSDEDG YDWGPATDL*

mutated AA sequence

speed

0.14 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: 0.999999999230213 (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)

chr19:3750615T>CN/A show variant in all transcripts IGV

HGNC symbol

TJP3

Ensembl transcript ID

ENST00000539908

Genbank transcript ID

N/A

UniProt peptide

O95049

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2585T>C
cDNA.2704T>C
g.42509T>C

AA changes

M862T Score: 81 explain score(s)

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

862

frameshift

known variant

Reference ID: rs1046268

database	homozygous (C/C)	heterozygous	allele carriers
1000G	760	1151	1911
ExAC	16744	-721	16023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.422	0.56
	0.609	0.291
(flanking)	-2.264	0.004

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	42508	wt: 0.9480 / mu: 0.9843 (marginal change - not scored)	wt: AGTTTATGCGAGTAC mu: AGTTTACGCGAGTAC	TTTA\|tgcg
Donor increased	42503	wt: 0.45 / mu: 0.57	wt: GAAAAAGTTTATGCG mu: GAAAAAGTTTACGCG	AAAA\|gttt
Donor gained	42504	0.41	mu: AAAAAGTTTACGCGA	AAAG\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

862

mutated

not conserved

862

Ptroglodytes

not conserved

ENSPTRG00000010274

931

Mmulatta

all conserved

ENSMMUG00000028930

355

Fcatus

no alignment

ENSFCAG00000007142

n/a

Mmusculus

not conserved

ENSMUSG00000034917

883

Ggallus

not conserved

ENSGALG00000000748

915

Trubripes

not conserved

ENSTRUG00000018210

897

DDEEEA

Drerio

no alignment

ENSDARG00000002909

n/a

Dmelanogaster

no alignment

FBgn0262614

n/a

Celegans

no alignment

Y105E8A.26

n/a

Xtropicalis

not conserved

ENSXETG00000006407

884

protein features

start (aa)	end (aa)	feature	details
919	919	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
920	920	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

2652 / 2652

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

884 / 884

position of stopcodon in wt / mu cDNA

2771 / 2771

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

120 / 120

chromosome

strand

last intron/exon boundary

2669

theoretical NMD boundary in CDS

2499

length of CDS

2652

coding sequence (CDS) position

2585

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

2704

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

42509

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

3750615

original gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

original cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

wildtype AA sequence

MVVSDVVPGG PAEGRLQTGD HIVMVNGVSM ENATSAFAIQ ILKTCTKMAN ITVKRPRRIH
LPATKASPSS PGRQDSDEDD GPQRVEEVDQ GRGYDGDSSS GSGRSWDERS RRPRPGRRGR
AGSHGRRSPG GGSEANGLAL VSGFKRLPRQ DVQMKPVKSV LVKRRDSEEF GVKLGSQIFI
KHITDSGLAA RHRGLQEGDL ILQINGVSSQ NLSLNDTRRL IEKSEGKLSL LVLRDRGQFL
VNIPPAVSDS DSSPLEDISD LASELSQAPP SHIPPPPRHA QRSPEASQTD SPVESPRLRR
ESSVDSRTIS EPDEQRSELP RESSYDIYRV PSSQSMEDRG YSPDTRVVRF LKGKSIGLRL
AGGNDVGIFV SGVQAGSPAD GQGIQEGDQI LQVNDVPFQN LTREEAVQFL LGLPPGEEME
LVTQRKQDIF WKMVQSRVGD SFYIRTHFEL EPSPPSGLGF TRGDVFHVLD TLHPGPGQSH
ARGGHWLAVR MGRDLREQER GIIPNQSRAE QLASLEAAQR AVGVGPGSSA GSNARAEFWR
LRGLRRGAKK TTQRSREDLS ALTRQGRYPP YERVVLREAS FKRPVVILGP VADIAMQKLT
AEMPDQFEIA ETVSRTDSPS KIIKLDTVRV IAEKDKHALL DVTPSAIERL NYVQYYPIVV
FFIPESRPAL KALRQWLAPA SRRSTRRLYA QAQKLRKHSS HLFTATIPLN GTSDTWYQEL
KAIIREQQTR PIWTAEDQLD GSLEDNLDLP HHGLADSSAD LSCDSRVNSD YETDGEGGAY
TDGEGYTDGE GGPYTDVDDE PPAPALARSS EPVQADESQS PRDRGRISAH QGAQVDSRHP
QGQWRQDSMR TYEREALKKK FMRVHDAESS DEDGYDWGPA TDL*

mutated AA sequence

speed

1.26 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999230213 (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)

chr19:3750615T>CN/A show variant in all transcripts IGV

HGNC symbol

TJP3

Ensembl transcript ID

ENST00000589378

Genbank transcript ID

NM_001267561

UniProt peptide

O95049

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2720T>C
cDNA.2876T>C
g.42509T>C

AA changes

M907T Score: 81 explain score(s)

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

907

frameshift

known variant

Reference ID: rs1046268

database	homozygous (C/C)	heterozygous	allele carriers
1000G	760	1151	1911
ExAC	16744	-721	16023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.422	0.56
	0.609	0.291
(flanking)	-2.264	0.004

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	42508	wt: 0.9480 / mu: 0.9843 (marginal change - not scored)	wt: AGTTTATGCGAGTAC mu: AGTTTACGCGAGTAC	TTTA\|tgcg
Donor increased	42503	wt: 0.45 / mu: 0.57	wt: GAAAAAGTTTATGCG mu: GAAAAAGTTTACGCG	AAAA\|gttt
Donor gained	42504	0.41	mu: AAAAAGTTTACGCGA	AAAG\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

907

mutated

not conserved

907

Ptroglodytes

not conserved

ENSPTRG00000010274

931

Mmulatta

all conserved

ENSMMUG00000028930

355

Fcatus

no alignment

ENSFCAG00000007142

n/a

Mmusculus

not conserved

ENSMUSG00000034917

883

Ggallus

not conserved

ENSGALG00000000748

916

Trubripes

not conserved

ENSTRUG00000018210

896

DDEEEA

Drerio

no alignment

ENSDARG00000002909

n/a

Dmelanogaster

no alignment

FBgn0262614

n/a

Celegans

no alignment

Y105E8A.26

n/a

Xtropicalis

not conserved

ENSXETG00000006407

885

protein features

start (aa)	end (aa)	feature	details
919	919	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
920	920	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

2787 / 2787

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

929 / 929

position of stopcodon in wt / mu cDNA

2943 / 2943

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

157 / 157

chromosome

strand

last intron/exon boundary

2841

theoretical NMD boundary in CDS

2634

length of CDS

2787

coding sequence (CDS) position

2720

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

2876

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

42509

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

3750615

original gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

original cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

wildtype AA sequence

MAVRFQVADM EELTIWEQHT ATLSKDPRRG FGIAISGGRD RPGGSMVVSD VVPGGPAEGR
LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK ASPSSPGRQD
SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG RRSPGGGSEA
NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD SGLAARHRGL
QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP AVSDSDSSPL
EDISDLASEL SQAPPSHIPP PPRHAQRSPE ASQTDSPVES PRLRRESSVD SRTISEPDEQ
RSELPRESSY DIYRVPSSQS MEDRGYSPDT RVVRFLKGKS IGLRLAGGND VGIFVSGVQA
GSPADGQGIQ EGDQILQVND VPFQNLTREE AVQFLLGLPP GEEMELVTQR KQDIFWKMVQ
SRVGDSFYIR THFELEPSPP SGLGFTRGDV FHVLDTLHPG PGQSHARGGH WLAVRMGRDL
REQERGIIPN QSRAEQLASL EAAQRAVGVG PGSSAGSNAR AEFWRLRGLR RGAKKTTQRS
REDLSALTRQ GRYPPYERVV LREASFKRPV VILGPVADIA MQKLTAEMPD QFEIAETVSR
TDSPSKIIKL DTVRVIAEKD KHALLDVTPS AIERLNYVQY YPIVVFFIPE SRPALKALRQ
WLAPASRRST RRLYAQAQKL RKHSSHLFTA TIPLNGTSDT WYQELKAIIR EQQTRPIWTA
EDQLDGSLED NLDLPHHGLA DSSADLSCDS RVNSDYETDG EGGAYTDGEG YTDGEGGPYT
DVDDEPPAPA LARSSEPVQA DESQSPRDRG RISAHQGAQV DSRHPQGQWR QDSMRTYERE
ALKKKFMRVH DAESSDEDGY DWGPATDL*

mutated AA sequence

speed

1.26 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999230213 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:3750615T>CN/A show variant in all transcripts IGV

HGNC symbol

TJP3

Ensembl transcript ID

ENST00000262968

Genbank transcript ID

NM_001267560

UniProt peptide

O95049

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2792T>C
cDNA.2792T>C
g.42509T>C

AA changes

M931T Score: 81 explain score(s)

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

931

frameshift

known variant

Reference ID: rs1046268

database	homozygous (C/C)	heterozygous	allele carriers
1000G	760	1151	1911
ExAC	16744	-721	16023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.422	0.56
	0.609	0.291
(flanking)	-2.264	0.004

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	42508	wt: 0.9480 / mu: 0.9843 (marginal change - not scored)	wt: AGTTTATGCGAGTAC mu: AGTTTACGCGAGTAC	TTTA\|tgcg
Donor increased	42503	wt: 0.45 / mu: 0.57	wt: GAAAAAGTTTATGCG mu: GAAAAAGTTTACGCG	AAAA\|gttt
Donor gained	42504	0.41	mu: AAAAAGTTTACGCGA	AAAG\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

931

mutated

not conserved

931

Ptroglodytes

not conserved

ENSPTRG00000010274

931

Mmulatta

all conserved

ENSMMUG00000028930

355

Fcatus

no alignment

ENSFCAG00000007142

n/a

Mmusculus

not conserved

ENSMUSG00000034917

883

Ggallus

not conserved

ENSGALG00000000748

915

Trubripes

not conserved

ENSTRUG00000018210

897

Drerio

no alignment

ENSDARG00000002909

n/a

Dmelanogaster

no alignment

FBgn0262614

n/a

Celegans

no alignment

Y105E8A.26

n/a

Xtropicalis

not conserved

ENSXETG00000006407

884

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2859 / 2859

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

953 / 953

position of stopcodon in wt / mu cDNA

2859 / 2859

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

last intron/exon boundary

2757

theoretical NMD boundary in CDS

2706

length of CDS

2859

coding sequence (CDS) position

2792

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

2792

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

42509

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

3750615

original gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

original cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

wildtype AA sequence

MNLCGLMPIF PAPLDQVADM EELTIWEQHT ATLSKDPRRG FGIAISGGRD RPGGSMVVSD
VVPGGPAEGR LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK
ASPSSPGRQD SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG
RRSPGGGSEA NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD
SGLAARHRGL QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP
AVSDSDSSPL EEGVTMADEM SSPPADISDL ASELSQAPPS HIPPPPRHAQ RSPEASQTDS
PVESPRLRRE SSVDSRTISE PDEQRSELPR ESSYDIYRVP SSQSMEDRGY SPDTRVVRFL
KGKSIGLRLA GGNDVGIFVS GVQAGSPADG QGIQEGDQIL QVNDVPFQNL TREEAVQFLL
GLPPGEEMEL VTQRKQDIFW KMVQSRVGDS FYIRTHFELE PSPPSGLGFT RGDVFHVLDT
LHPGPGQSHA RGGHWLAVRM GRDLREQERG IIPNQSRAEQ LASLEAAQRA VGVGPGSSAG
SNARAEFWRL RGLRRGAKKT TQRSREDLSA LTRQGRYPPY ERVVLREASF KRPVVILGPV
ADIAMQKLTA EMPDQFEIAE TVSRTDSPSK IIKLDTVRVI AEKDKHALLD VTPSAIERLN
YVQYYPIVVF FIPESRPALK ALRQWLAPAS RRSTRRLYAQ AQKLRKHSSH LFTATIPLNG
TSDTWYQELK AIIREQQTRP IWTAEDQLDG SLEDNLDLPH HGLADSSADL SCDSRVNSDY
ETDGEGGAYT DGEGYTDGEG GPYTDVDDEP PAPALARSSE PVQADESQSP RDRGRISAHQ
GAQVDSRHPQ GQWRQDSMRT YEREALKKKF MRVHDAESSD EDGYDWGPAT DL*

mutated AA sequence

speed

0.10 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999230213 (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)

chr19:3750615T>CN/A show variant in all transcripts IGV

HGNC symbol

TJP3

Ensembl transcript ID

ENST00000587686

Genbank transcript ID

N/A

UniProt peptide

O95049

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2750T>C
cDNA.2750T>C
g.42509T>C

AA changes

M917T Score: 81 explain score(s)

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

917

frameshift

known variant

Reference ID: rs1046268

database	homozygous (C/C)	heterozygous	allele carriers
1000G	760	1151	1911
ExAC	16744	-721	16023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.422	0.56
	0.609	0.291
(flanking)	-2.264	0.004

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	42508	wt: 0.9480 / mu: 0.9843 (marginal change - not scored)	wt: AGTTTATGCGAGTAC mu: AGTTTACGCGAGTAC	TTTA\|tgcg
Donor increased	42503	wt: 0.45 / mu: 0.57	wt: GAAAAAGTTTATGCG mu: GAAAAAGTTTACGCG	AAAA\|gttt
Donor gained	42504	0.41	mu: AAAAAGTTTACGCGA	AAAG\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

917

mutated

not conserved

917

Ptroglodytes

not conserved

ENSPTRG00000010274

931

Mmulatta

all conserved

ENSMMUG00000028930

355

Fcatus

no alignment

ENSFCAG00000007142

n/a

Mmusculus

not conserved

ENSMUSG00000034917

883

Ggallus

not conserved

ENSGALG00000000748

916

Trubripes

not conserved

ENSTRUG00000018210

897

DDEEEA

Drerio

no alignment

ENSDARG00000002909

n/a

Dmelanogaster

no alignment

FBgn0262614

n/a

Celegans

no alignment

Y105E8A.26

n/a

Xtropicalis

not conserved

ENSXETG00000006407

885

protein features

start (aa)	end (aa)	feature	details
919	919	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
920	920	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

2817 / 2817

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

939 / 939

position of stopcodon in wt / mu cDNA

2817 / 2817

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

last intron/exon boundary

2715

theoretical NMD boundary in CDS

2664

length of CDS

2817

coding sequence (CDS) position

2750

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

2750

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

42509

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

3750615

original gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

original cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

wildtype AA sequence

MNLCGLMPIF PAPLDQVADM EELTIWEQHT ATLSKDPRRG FGIAISGGRD RPGGSMVVSD
VVPGGPAEGR LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK
ASPSSPGRQD SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG
RRSPGGGSEA NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD
SGLAARHRGL QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP
AVSDSDSSPL EDISDLASEL SQAPPSHIPP PPRHAQRSPE ASQTDSPVES PRLRRESSVD
SRTISEPDEQ RSELPRESSY DIYRVPSSQS MEDRGYSPDT RVVRFLKGKS IGLRLAGGND
VGIFVSGVQA GSPADGQGIQ EGDQILQVND VPFQNLTREE AVQFLLGLPP GEEMELVTQR
KQDIFWKMVQ SRVGDSFYIR THFELEPSPP SGLGFTRGDV FHVLDTLHPG PGQSHARGGH
WLAVRMGRDL REQERGIIPN QSRAEQLASL EAAQRAVGVG PGSSAGSNAR AEFWRLRGLR
RGAKKTTQRS REDLSALTRQ GRYPPYERVV LREASFKRPV VILGPVADIA MQKLTAEMPD
QFEIAETVSR TDSPSKIIKL DTVRVIAEKD KHALLDVTPS AIERLNYVQY YPIVVFFIPE
SRPALKALRQ WLAPASRRST RRLYAQAQKL RKHSSHLFTA TIPLNGTSDT WYQELKAIIR
EQQTRPIWTA EDQLDGSLED NLDLPHHGLA DSSADLSCDS RVNSDYETDG EGGAYTDGEG
YTDGEGGPYT DVDDEPPAPA LARSSEPVQA DESQSPRDRG RISAHQGAQV DSRHPQGQWR
QDSMRTYERE ALKKKFMRVH DAESSDEDGY DWGPATDL*

mutated AA sequence

MNLCGLMPIF PAPLDQVADM EELTIWEQHT ATLSKDPRRG FGIAISGGRD RPGGSMVVSD
VVPGGPAEGR LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK
ASPSSPGRQD SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG
RRSPGGGSEA NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD
SGLAARHRGL QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP
AVSDSDSSPL EDISDLASEL SQAPPSHIPP PPRHAQRSPE ASQTDSPVES PRLRRESSVD
SRTISEPDEQ RSELPRESSY DIYRVPSSQS MEDRGYSPDT RVVRFLKGKS IGLRLAGGND
VGIFVSGVQA GSPADGQGIQ EGDQILQVND VPFQNLTREE AVQFLLGLPP GEEMELVTQR
KQDIFWKMVQ SRVGDSFYIR THFELEPSPP SGLGFTRGDV FHVLDTLHPG PGQSHARGGH
WLAVRMGRDL REQERGIIPN QSRAEQLASL EAAQRAVGVG PGSSAGSNAR AEFWRLRGLR
RGAKKTTQRS REDLSALTRQ GRYPPYERVV LREASFKRPV VILGPVADIA MQKLTAEMPD
QFEIAETVSR TDSPSKIIKL DTVRVIAEKD KHALLDVTPS AIERLNYVQY YPIVVFFIPE
SRPALKALRQ WLAPASRRST RRLYAQAQKL RKHSSHLFTA TIPLNGTSDT WYQELKAIIR
EQQTRPIWTA EDQLDGSLED NLDLPHHGLA DSSADLSCDS RVNSDYETDG EGGAYTDGEG
YTDGEGGPYT DVDDEPPAPA LARSSEPVQA DESQSPRDRG RISAHQGAQV DSRHPQGQWR
QDSMRTYERE ALKKKFTRVH DAESSDEDGY DWGPATDL*

speed

1.30 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999230213 (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)

chr19:3750615T>CN/A show variant in all transcripts IGV

HGNC symbol

TJP3

Ensembl transcript ID

ENST00000382008

Genbank transcript ID

N/A

UniProt peptide

O95049

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2735T>C
cDNA.2918T>C
g.42509T>C

AA changes

M912T Score: 81 explain score(s)

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

912

frameshift

known variant

Reference ID: rs1046268

database	homozygous (C/C)	heterozygous	allele carriers
1000G	760	1151	1911
ExAC	16744	-721	16023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.422	0.56
	0.609	0.291
(flanking)	-2.264	0.004

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	42508	wt: 0.9480 / mu: 0.9843 (marginal change - not scored)	wt: AGTTTATGCGAGTAC mu: AGTTTACGCGAGTAC	TTTA\|tgcg
Donor increased	42503	wt: 0.45 / mu: 0.57	wt: GAAAAAGTTTATGCG mu: GAAAAAGTTTACGCG	AAAA\|gttt
Donor gained	42504	0.41	mu: AAAAAGTTTACGCGA	AAAG\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

912

mutated

not conserved

912

Ptroglodytes

not conserved

ENSPTRG00000010274

931

Mmulatta

all conserved

ENSMMUG00000028930

355

Fcatus

no alignment

ENSFCAG00000007142

n/a

Mmusculus

not conserved

ENSMUSG00000034917

883

Ggallus

not conserved

ENSGALG00000000748

915

Trubripes

not conserved

ENSTRUG00000018210

897

DDEEEA

Drerio

no alignment

ENSDARG00000002909

n/a

Dmelanogaster

no alignment

FBgn0262614

n/a

Celegans

no alignment

Y105E8A.26

n/a

Xtropicalis

not conserved

ENSXETG00000006407

884

protein features

start (aa)	end (aa)	feature	details
919	919	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
920	920	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

2802 / 2802

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

934 / 934

position of stopcodon in wt / mu cDNA

2985 / 2985

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

184 / 184

chromosome

strand

last intron/exon boundary

2883

theoretical NMD boundary in CDS

2649

length of CDS

2802

coding sequence (CDS) position

2735

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

2918

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

42509

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

3750615

original gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered gDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

original cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT

altered cDNA sequence snippet

AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT

wildtype AA sequence

MEELTIWEQH TATLSKDPRR GFGIAISGGR DRPGGSMVVS DVVPGGPAEG RLQTGDHIVM
VNGVSMENAT SAFAIQILKT CTKMANITVK RPRRIHLPAT KASPSSPGRQ DSDEDDGPQR
VEEVDQGRGY DGDSSSGSGR SWDERSRRPR PGRRGRAGSH GRRSPGGGSE ANGLALVSGF
KRLPRQDVQM KPVKSVLVKR RDSEEFGVKL GSQIFIKHIT DSGLAARHRG LQEGDLILQI
NGVSSQNLSL NDTRRLIEKS EGKLSLLVLR DRGQFLVNIP PAVSDSDSSP LEEGVTMADE
MSSPPADISD LASELSQAPP SHIPPPPRHA QRSPEASQTD SPVESPRLRR ESSVDSRTIS
EPDEQRSELP RESSYDIYRV PSSQSMEDRG YSPDTRVVRF LKGKSIGLRL AGGNDVGIFV
SGVQAGSPAD GQGIQEGDQI LQVNDVPFQN LTREEAVQFL LGLPPGEEME LVTQRKQDIF
WKMVQSRVGD SFYIRTHFEL EPSPPSGLGF TRGDVFHVLD TLHPGPGQSH ARGGHWLAVR
MGRDLREQER GIIPNQSRAE QLASLEAAQR AVGVGPGSSA GSNARAEFWR LRGLRRGAKK
TTQRSREDLS ALTRQGRYPP YERVVLREAS FKRPVVILGP VADIAMQKLT AEMPDQFEIA
ETVSRTDSPS KIIKLDTVRV IAEKDKHALL DVTPSAIERL NYVQYYPIVV FFIPESRPAL
KALRQWLAPA SRRSTRRLYA QAQKLRKHSS HLFTATIPLN GTSDTWYQEL KAIIREQQTR
PIWTAEDQLD GSLEDNLDLP HHGLADSSAD LSCDSRVNSD YETDGEGGAY TDGEGYTDGE
GGPYTDVDDE PPAPALARSS EPVQADESQS PRDRGRISAH QGAQVDSRHP QGQWRQDSMR
TYEREALKKK FMRVHDAESS DEDGYDWGPA TDL*

mutated AA sequence

MEELTIWEQH TATLSKDPRR GFGIAISGGR DRPGGSMVVS DVVPGGPAEG RLQTGDHIVM
VNGVSMENAT SAFAIQILKT CTKMANITVK RPRRIHLPAT KASPSSPGRQ DSDEDDGPQR
VEEVDQGRGY DGDSSSGSGR SWDERSRRPR PGRRGRAGSH GRRSPGGGSE ANGLALVSGF
KRLPRQDVQM KPVKSVLVKR RDSEEFGVKL GSQIFIKHIT DSGLAARHRG LQEGDLILQI
NGVSSQNLSL NDTRRLIEKS EGKLSLLVLR DRGQFLVNIP PAVSDSDSSP LEEGVTMADE
MSSPPADISD LASELSQAPP SHIPPPPRHA QRSPEASQTD SPVESPRLRR ESSVDSRTIS
EPDEQRSELP RESSYDIYRV PSSQSMEDRG YSPDTRVVRF LKGKSIGLRL AGGNDVGIFV
SGVQAGSPAD GQGIQEGDQI LQVNDVPFQN LTREEAVQFL LGLPPGEEME LVTQRKQDIF
WKMVQSRVGD SFYIRTHFEL EPSPPSGLGF TRGDVFHVLD TLHPGPGQSH ARGGHWLAVR
MGRDLREQER GIIPNQSRAE QLASLEAAQR AVGVGPGSSA GSNARAEFWR LRGLRRGAKK
TTQRSREDLS ALTRQGRYPP YERVVLREAS FKRPVVILGP VADIAMQKLT AEMPDQFEIA
ETVSRTDSPS KIIKLDTVRV IAEKDKHALL DVTPSAIERL NYVQYYPIVV FFIPESRPAL
KALRQWLAPA SRRSTRRLYA QAQKLRKHSS HLFTATIPLN GTSDTWYQEL KAIIREQQTR
PIWTAEDQLD GSLEDNLDLP HHGLADSSAD LSCDSRVNSD YETDGEGGAY TDGEGYTDGE
GGPYTDVDDE PPAPALARSS EPVQADESQS PRDRGRISAH QGAQVDSRHP QGQWRQDSMR
TYEREALKKK FTRVHDAESS DEDGYDWGPA TDL*

speed

1.33 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