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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000339686
Querying Taster for transcript #2: ENST00000429837
Querying Taster for transcript #3: ENST00000419602
Querying Taster for transcript #4: ENST00000447113
Querying Taster for transcript #5: ENST00000418261
Querying Taster for transcript #6: ENST00000424570
Querying Taster for transcript #7: ENST00000451297
Querying Taster for transcript #8: ENST00000440396
MT speed 0 s - this script 5.642652 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DMKN	polymorphism_automatic	1.37929667687331e-11	simple_aae		affected		G284S	single base exchange	rs12981076		show file
DMKN	polymorphism_automatic	1.37929667687331e-11	simple_aae		affected		G284S	single base exchange	rs12981076		show file
DMKN	polymorphism_automatic	1.37929667687331e-11	simple_aae		affected		G284S	single base exchange	rs12981076		show file
DMKN	polymorphism_automatic	1.37929667687331e-11	simple_aae		affected		G284S	single base exchange	rs12981076		show file
DMKN	polymorphism_automatic	1.37929667687331e-11	simple_aae		affected		G284S	single base exchange	rs12981076		show file
DMKN	polymorphism_automatic	1.37929667687331e-11	simple_aae		affected		G284S	single base exchange	rs12981076		show file
DMKN	polymorphism_automatic	7.73881160265333e-08	without_aae		affected			single base exchange	rs12981076		show file
DMKN	polymorphism_automatic	7.73881160265333e-08	without_aae		affected			single base exchange	rs12981076		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986207 (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)

chr19:36002381C>TN/A show variant in all transcripts IGV

HGNC symbol

DMKN

Ensembl transcript ID

ENST00000339686

Genbank transcript ID

NM_033317

UniProt peptide

Q6E0U4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.850G>A
cDNA.1027G>A
g.2180G>A

AA changes

G284S Score: 56 explain score(s)

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

284

frameshift

known variant

Reference ID: rs12981076

database	homozygous (T/T)	heterozygous	allele carriers
1000G	219	858	1077
ExAC	11	1233	1244

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.981	0
	-1.233	0
(flanking)	0.262	0

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 increased	2183	wt: 0.56 / mu: 0.83	wt: GCGGCAGCAGTGGTG mu: GCAGCAGCAGTGGTG	GGCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

284

mutated

not conserved

284

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000019064

252

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000060962

260

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0034011

Celegans

not conserved

T17H7.1

527

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	344	COMPBIAS	Gly-rich.	lost
378	378	CONFLICT	K -> M (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
419	419	CONFLICT	S -> L (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
450	450	CONFLICT	T -> S (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1431 / 1431

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

477 / 477

position of stopcodon in wt / mu cDNA

1608 / 1608

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

178 / 178

chromosome

strand

-1

last intron/exon boundary

1609

theoretical NMD boundary in CDS

1381

length of CDS

1431

coding sequence (CDS) position

850

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

1027

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

2180

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

36002381

original gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

original cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

wildtype AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKNQ VPPPSTRALL YFSRLWEDFK QNTPFLNWKA IIEGADASSL
QKRAGRDDQN YNYNQHAYPT AYGGKYSVKT PAKGGVSPSS SASRVQPGLL QWVKFW*

mutated AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGSSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKNQ VPPPSTRALL YFSRLWEDFK QNTPFLNWKA IIEGADASSL
QKRAGRDDQN YNYNQHAYPT AYGGKYSVKT PAKGGVSPSS SASRVQPGLL QWVKFW*

speed

0.59 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: 0.999999999986207 (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)

chr19:36002381C>TN/A show variant in all transcripts IGV

HGNC symbol

DMKN

Ensembl transcript ID

ENST00000447113

Genbank transcript ID

NM_001190348

UniProt peptide

Q6E0U4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.850G>A
cDNA.1033G>A
g.2180G>A

AA changes

G284S Score: 56 explain score(s)

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

284

frameshift

known variant

Reference ID: rs12981076

database	homozygous (T/T)	heterozygous	allele carriers
1000G	219	858	1077
ExAC	11	1233	1244

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.981	0
	-1.233	0
(flanking)	0.262	0

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 increased	2183	wt: 0.56 / mu: 0.83	wt: GCGGCAGCAGTGGTG mu: GCAGCAGCAGTGGTG	GGCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

284

mutated

not conserved

284

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000019064

252

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000060962

263

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0034011

Celegans

not conserved

T17H7.1

527

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	344	COMPBIAS	Gly-rich.	lost
378	378	CONFLICT	K -> M (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
419	419	CONFLICT	S -> L (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
450	450	CONFLICT	T -> S (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1311 / 1311

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

437 / 437

position of stopcodon in wt / mu cDNA

1494 / 1494

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

-1

last intron/exon boundary

1468

theoretical NMD boundary in CDS

1234

length of CDS

1311

coding sequence (CDS) position

850

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

1033

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

2180

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

36002381

original gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

original cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

wildtype AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMREI
SKEGNRLLGG SGDNYRGQGS SWGSGGGDAV GGVNTVNSET SPGMFNFDTF WKNFKSKLGF
INWDAINKDQ RSSRIP*

mutated AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGSSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMREI
SKEGNRLLGG SGDNYRGQGS SWGSGGGDAV GGVNTVNSET SPGMFNFDTF WKNFKSKLGF
INWDAINKDQ RSSRIP*

speed

0.43 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986207 (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)

chr19:36002381C>TN/A show variant in all transcripts IGV

HGNC symbol

DMKN

Ensembl transcript ID

ENST00000424570

Genbank transcript ID

NM_001126057

UniProt peptide

Q6E0U4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.850G>A
cDNA.856G>A
g.2180G>A

AA changes

G284S Score: 56 explain score(s)

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

284

frameshift

known variant

Reference ID: rs12981076

database	homozygous (T/T)	heterozygous	allele carriers
1000G	219	858	1077
ExAC	11	1233	1244

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.981	0
	-1.233	0
(flanking)	0.262	0

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 increased	2183	wt: 0.56 / mu: 0.83	wt: GCGGCAGCAGTGGTG mu: GCAGCAGCAGTGGTG	GGCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

284

mutated

not conserved

284

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000019064

252

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000060962

263

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0034011

GQPAPLTEQVGYG

Celegans

not conserved

T17H7.1

545

DDFP

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	344	COMPBIAS	Gly-rich.	lost
378	378	CONFLICT	K -> M (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
419	419	CONFLICT	S -> L (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
450	450	CONFLICT	T -> S (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1197 / 1197

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

399 / 399

position of stopcodon in wt / mu cDNA

1203 / 1203

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

7 / 7

chromosome

strand

-1

last intron/exon boundary

1177

theoretical NMD boundary in CDS

1120

length of CDS

1197

coding sequence (CDS) position

850

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

856

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

2180

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

36002381

original gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

original cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

wildtype AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMRNS
ETSPGMFNFD TFWKNFKSKL GFINWDAINK DQRSSRIP*

mutated AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGSSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMRNS
ETSPGMFNFD TFWKNFKSKL GFINWDAINK DQRSSRIP*

speed

0.84 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986207 (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)

chr19:36002381C>TN/A show variant in all transcripts IGV

HGNC symbol

DMKN

Ensembl transcript ID

ENST00000418261

Genbank transcript ID

NM_001126058

UniProt peptide

Q6E0U4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.850G>A
cDNA.856G>A
g.2180G>A

AA changes

G284S Score: 56 explain score(s)

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

284

frameshift

known variant

Reference ID: rs12981076

database	homozygous (T/T)	heterozygous	allele carriers
1000G	219	858	1077
ExAC	11	1233	1244

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.981	0
	-1.233	0
(flanking)	0.262	0

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 increased	2183	wt: 0.56 / mu: 0.83	wt: GCGGCAGCAGTGGTG mu: GCAGCAGCAGTGGTG	GGCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

284

mutated

not conserved

284

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000019064

252

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000060962

260

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0034011

Celegans

not conserved

T17H7.1

527

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	344	COMPBIAS	Gly-rich.	lost
378	378	CONFLICT	K -> M (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
419	419	CONFLICT	S -> L (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
450	450	CONFLICT	T -> S (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1161 / 1161

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

387 / 387

position of stopcodon in wt / mu cDNA

1167 / 1167

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

7 / 7

chromosome

strand

-1

last intron/exon boundary

1141

theoretical NMD boundary in CDS

1084

length of CDS

1161

coding sequence (CDS) position

850

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

856

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

2180

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

36002381

original gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

original cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

wildtype AA sequence

mutated AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGSSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKDQ RSSRIP*

speed

0.88 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986207 (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)

chr19:36002381C>TN/A show variant in all transcripts IGV

HGNC symbol

DMKN

Ensembl transcript ID

ENST00000451297

Genbank transcript ID

NM_001190349

UniProt peptide

Q6E0U4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.850G>A
cDNA.850G>A
g.2180G>A

AA changes

G284S Score: 56 explain score(s)

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

284

frameshift

known variant

Reference ID: rs12981076

database	homozygous (T/T)	heterozygous	allele carriers
1000G	219	858	1077
ExAC	11	1233	1244

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.981	0
	-1.233	0
(flanking)	0.262	0

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 increased	2183	wt: 0.56 / mu: 0.83	wt: GCGGCAGCAGTGGTG mu: GCAGCAGCAGTGGTG	GGCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

284

mutated

not conserved

284

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000019064

252

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000060962

260

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0034011

Celegans

not conserved

T17H7.1

545

DDFP

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	344	COMPBIAS	Gly-rich.	lost
378	378	CONFLICT	K -> M (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
419	419	CONFLICT	S -> L (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
450	450	CONFLICT	T -> S (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1110 / 1110

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

370 / 370

position of stopcodon in wt / mu cDNA

1110 / 1110

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

1084

theoretical NMD boundary in CDS

1033

length of CDS

1110

coding sequence (CDS) position

850

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

850

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

2180

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

36002381

original gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

original cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

wildtype AA sequence

mutated AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGSSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGN SETSPGMFNF DTFWKNFKSK LGFINWDAIN
KDQRSSRIP*

speed

0.88 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986207 (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)

chr19:36002381C>TN/A show variant in all transcripts IGV

HGNC symbol

DMKN

Ensembl transcript ID

ENST00000440396

Genbank transcript ID

N/A

UniProt peptide

Q6E0U4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.850G>A
cDNA.1033G>A
g.2180G>A

AA changes

G284S Score: 56 explain score(s)

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

284

frameshift

known variant

Reference ID: rs12981076

database	homozygous (T/T)	heterozygous	allele carriers
1000G	219	858	1077
ExAC	11	1233	1244

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.981	0
	-1.233	0
(flanking)	0.262	0

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 increased	2183	wt: 0.56 / mu: 0.83	wt: GCGGCAGCAGTGGTG mu: GCAGCAGCAGTGGTG	GGCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

284

mutated

not conserved

284

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000019064

252

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000060962

263

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0034011

Celegans

not conserved

T17H7.1

545

DDFP

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	344	COMPBIAS	Gly-rich.	lost
378	378	CONFLICT	K -> M (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
419	419	CONFLICT	S -> L (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
450	450	CONFLICT	T -> S (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1251 / 1251

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

417 / 417

position of stopcodon in wt / mu cDNA

1434 / 1434

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

-1

last intron/exon boundary

1408

theoretical NMD boundary in CDS

1174

length of CDS

1251

coding sequence (CDS) position

850

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

1033

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

2180

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

36002381

original gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

original cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered cDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

wildtype AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMREI
SKEGNRLLGG SGDNYRNSET SPGMFNFDTF WKNFKSKLGF INWDAINKDQ RSSRIP*

mutated AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGSSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMREI
SKEGNRLLGG SGDNYRNSET SPGMFNFDTF WKNFKSKLGF INWDAINKDQ RSSRIP*

speed

0.58 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999922611884 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr19:36002381C>TN/A show variant in all transcripts IGV

HGNC symbol

DMKN

Ensembl transcript ID

ENST00000429837

Genbank transcript ID

NM_001190347

UniProt peptide

Q6E0U4

alteration type

single base exchange

alteration region

intron

DNA changes

g.2180G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs12981076

database	homozygous (T/T)	heterozygous	allele carriers
1000G	219	858	1077
ExAC	11	1233	1244

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.981	0
	-1.233	0
(flanking)	0.262	0

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 increased	2183	wt: 0.56 / mu: 0.83	wt: GCGGCAGCAGTGGTG mu: GCAGCAGCAGTGGTG	GGCA\|gcag

distance from splice site

284

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
17	344	COMPBIAS	Gly-rich.	might get lost (downstream of altered splice site)
254	259	STRAND		might get lost (downstream of altered splice site)
271	271	CONFLICT	Missing (in Ref. 3; ABN11273/ABN11274).	might get lost (downstream of altered splice site)
279	279	CONFLICT	G -> GSSSG (in Ref. 4; AAQ88778).	might get lost (downstream of altered splice site)
378	378	CONFLICT	K -> M (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
419	419	CONFLICT	S -> L (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
450	450	CONFLICT	T -> S (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

7 / 7

chromosome

strand

-1

last intron/exon boundary

1357

theoretical NMD boundary in CDS

1300

length of CDS

1350

coding sequence (CDS) position

N/A

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

N/A

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

2180

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

36002381

original gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGSSTG SSSGNHGGSG GGNGHKPGCE KPGNEARGSG ESGIQGQGSS WGSGGGDAVG
GVNTVNSETS PGMFNFDTFW KNFKSKLGFI NWDAINKNQV PPPSTRALLY FSRLWEDFKQ
NTPFLNWKAI IEGADASSLQ KRAGRDDQPG AGWQEVAAVT SKNYNYNQHA YPTAYGGKYS
VKTPAKGGVS PSSSASRVQP GLLQWVKFW*

mutated AA sequence

N/A

speed

0.52 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999922611884 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr19:36002381C>TN/A show variant in all transcripts IGV

HGNC symbol

DMKN

Ensembl transcript ID

ENST00000419602

Genbank transcript ID

NM_001126056

UniProt peptide

Q6E0U4

alteration type

single base exchange

alteration region

intron

DNA changes

g.2180G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs12981076

database	homozygous (T/T)	heterozygous	allele carriers
1000G	219	858	1077
ExAC	11	1233	1244

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.981	0
	-1.233	0
(flanking)	0.262	0

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 increased	2183	wt: 0.56 / mu: 0.83	wt: GCGGCAGCAGTGGTG mu: GCAGCAGCAGTGGTG	GGCA\|gcag

distance from splice site

284

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
17	344	COMPBIAS	Gly-rich.	might get lost (downstream of altered splice site)
254	259	STRAND		might get lost (downstream of altered splice site)
271	271	CONFLICT	Missing (in Ref. 3; ABN11273/ABN11274).	might get lost (downstream of altered splice site)
279	279	CONFLICT	G -> GSSSG (in Ref. 4; AAQ88778).	might get lost (downstream of altered splice site)
378	378	CONFLICT	K -> M (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
419	419	CONFLICT	S -> L (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)
450	450	CONFLICT	T -> S (in Ref. 3; ABN11272).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

8 / 8

chromosome

strand

-1

last intron/exon boundary

1406

theoretical NMD boundary in CDS

1348

length of CDS

1398

coding sequence (CDS) position

N/A

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

N/A

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

2180

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

36002381

original gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT

altered gDNA sequence snippet

GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGSSTG SSSGNHGGSG GGNGHKPGCE KPGNEARGSG ESGIQGFRGQ GVSSNMREIS
KEGNRLLGGS GDNYRGQGSS WGSGGGDAVG GVNTVNSETS PGMFNFDTFW KNFKSKLGFI
NWDAINKNQV PPPSTRALLY FSRLWEDFKQ NTPFLNWKAI IEGADASSLQ KRAGRDDQNY
NYNQHAYPTA YGGKYSVKTP AKGGVSPSSS ASRVQPGLLQ WVKFW*

mutated AA sequence

N/A

speed

0.66 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems