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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000309007
Querying Taster for transcript #2: ENST00000292385
Querying Taster for transcript #3: ENST00000393565
Querying Taster for transcript #4: ENST00000512501
Querying Taster for transcript #5: ENST00000393563
MT speed 0 s - this script 4.381766 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DBN1	polymorphism_automatic	8.99280649946377e-15	simple_aae		affected		I446V	single base exchange	rs2544809		show file
DBN1	polymorphism_automatic	8.99280649946377e-15	simple_aae		affected		I448V	single base exchange	rs2544809		show file
DBN1	polymorphism_automatic	1.49880108324396e-14	simple_aae		affected		I178V	single base exchange	rs2544809		show file
DBN1	polymorphism_automatic	1.49880108324396e-14	simple_aae		affected		I178V	single base exchange	rs2544809		show file
DBN1	polymorphism_automatic	2.69784194983913e-14	simple_aae		affected		I492V	single base exchange	rs2544809		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999991 (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)

chr5:176885499T>CN/A show variant in all transcripts IGV

HGNC symbol

DBN1

Ensembl transcript ID

ENST00000309007

Genbank transcript ID

NM_004395

UniProt peptide

Q16643

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1336A>G
cDNA.1556A>G
g.15904A>G

AA changes

I446V Score: 29 explain score(s)

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

446

frameshift

known variant

Reference ID: rs2544809

database	homozygous (C/C)	heterozygous	allele carriers
1000G	451	1078	1529
ExAC	13836	5095	18931

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.282	0.006
	1.073	0.008
(flanking)	0.492	0.005

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	15897	wt: 0.2300 / mu: 0.2505 (marginal change - not scored)	wt: GACGCCACGGAGATC mu: GACGCCACGGAGGTC	CGCC\|acgg
Donor gained	15898	0.96	mu: ACGCCACGGAGGTCC	GCCA\|cgga

distance from splice site

210

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

446

mutated

all conserved

446

Ptroglodytes

all conserved

ENSPTRG00000017586

448

Mmulatta

all conserved

ENSMMUG00000022891

447

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000034675

498

DVH

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000001232

464

Drerio

no alignment

ENSDARG00000069113

n/a

Dmelanogaster

not conserved

FBgn0036372

404

Celegans

all identical

K08E3.4

586

DQYDFP

AVAEQNAMALWDYQ

Xtropicalis

all conserved

ENSXETG00000007241

409

protein features

start (aa)	end (aa)	feature	details
601	601	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
622	622	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1950 / 1950

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

650 / 650

position of stopcodon in wt / mu cDNA

2170 / 2170

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

221 / 221

chromosome

strand

-1

last intron/exon boundary

2100

theoretical NMD boundary in CDS

1829

length of CDS

1950

coding sequence (CDS) position

1336

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

1556

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

15904

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

176885499

original gDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered gDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

original cDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered cDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

wildtype AA sequence

MAGVSFSGHR LELLAAYEEV IREESAADWA LYTYEDGSDD LKLAASGEGG LQELSGHFEN
QKVMYGFCSV KDSQAALPKY VLINWVGEDV PDARKCACAS HVAKVAEFFQ GVDVIVNASS
VEDIDAGAIG QRLSNGLARL SSPVLHRLRL REDENAEPVG TTYQKTDAAV EMKRINREQF
WEQAKKEEEL RKEEERKKAL DERLRFEQER MEQERQEQEE RERRYREREQ QIEEHRRKQQ
TLEAEEAKRR LKEQSIFGDH RDEEEETHMK KSESEVEEAA AIIAQRPDNP REFFKQQERV
ASASAGSCDV PSPFNHRPGS HLDSHRRMAP TPIPTRSPSD SSTASTPVAE QIERALDEVT
SSQPPPLPPP PPPAQETQEP SPILDSEETR AAAPQAWAGP MEEPPQAQAP PRGPGSPAED
LMFMESAEQA VLAAPVEPAT ADATEIHDAA DTIETDTATA DTTVANNVPP AATSLIDLWP
GNGEGASTLQ GEPRAPTPPS GTEVTLAEVP LLDEVAPEPL LPAGEGCATL LNFDELPEPP
ATFCDPEEVE GESLAAPQTP TLPSALEELE QEQEPEPHLL TNGETTQKEG TQASEGYFSQ
SQEEEFAQSE ELCAKAPPPV FYNKPPEIDI TCWDADPVPE EEEGFEGGD*

mutated AA sequence

MAGVSFSGHR LELLAAYEEV IREESAADWA LYTYEDGSDD LKLAASGEGG LQELSGHFEN
QKVMYGFCSV KDSQAALPKY VLINWVGEDV PDARKCACAS HVAKVAEFFQ GVDVIVNASS
VEDIDAGAIG QRLSNGLARL SSPVLHRLRL REDENAEPVG TTYQKTDAAV EMKRINREQF
WEQAKKEEEL RKEEERKKAL DERLRFEQER MEQERQEQEE RERRYREREQ QIEEHRRKQQ
TLEAEEAKRR LKEQSIFGDH RDEEEETHMK KSESEVEEAA AIIAQRPDNP REFFKQQERV
ASASAGSCDV PSPFNHRPGS HLDSHRRMAP TPIPTRSPSD SSTASTPVAE QIERALDEVT
SSQPPPLPPP PPPAQETQEP SPILDSEETR AAAPQAWAGP MEEPPQAQAP PRGPGSPAED
LMFMESAEQA VLAAPVEPAT ADATEVHDAA DTIETDTATA DTTVANNVPP AATSLIDLWP
GNGEGASTLQ GEPRAPTPPS GTEVTLAEVP LLDEVAPEPL LPAGEGCATL LNFDELPEPP
ATFCDPEEVE GESLAAPQTP TLPSALEELE QEQEPEPHLL TNGETTQKEG TQASEGYFSQ
SQEEEFAQSE ELCAKAPPPV FYNKPPEIDI TCWDADPVPE EEEGFEGGD*

speed

0.76 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: 0.999999999999991 (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)

chr5:176885499T>CN/A show variant in all transcripts IGV

HGNC symbol

DBN1

Ensembl transcript ID

ENST00000292385

Genbank transcript ID

NM_080881

UniProt peptide

Q16643

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1342A>G
cDNA.1952A>G
g.15904A>G

AA changes

I448V Score: 29 explain score(s)

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

448

frameshift

known variant

Reference ID: rs2544809

database	homozygous (C/C)	heterozygous	allele carriers
1000G	451	1078	1529
ExAC	13836	5095	18931

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.282	0.006
	1.073	0.008
(flanking)	0.492	0.005

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	15897	wt: 0.2300 / mu: 0.2505 (marginal change - not scored)	wt: GACGCCACGGAGATC mu: GACGCCACGGAGGTC	CGCC\|acgg
Donor gained	15898	0.96	mu: ACGCCACGGAGGTCC	GCCA\|cgga

distance from splice site

210

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

448

mutated

all conserved

448

Ptroglodytes

all conserved

ENSPTRG00000017586

448

Mmulatta

all conserved

ENSMMUG00000022891

447

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000034675

498

DVH

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000001232

464

Drerio

no alignment

ENSDARG00000069113

n/a

Dmelanogaster

not conserved

FBgn0036372

406

Celegans

all identical

K08E3.4

586

DQYDFP

AVAEQNAMALWDYQ

Xtropicalis

all conserved

ENSXETG00000007241

404

protein features

start (aa)	end (aa)	feature	details
601	601	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
622	622	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1956 / 1956

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

652 / 652

position of stopcodon in wt / mu cDNA

2566 / 2566

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

611 / 611

chromosome

strand

-1

last intron/exon boundary

2496

theoretical NMD boundary in CDS

1835

length of CDS

1956

coding sequence (CDS) position

1342

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

1952

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

15904

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

176885499

original gDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered gDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

original cDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered cDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

wildtype AA sequence

MAGHPWHGTA ALASSQAWRD GRERQALVSC RALYTYEDGS DDLKLAASGE GGLQELSGHF
ENQKVMYGFC SVKDSQAALP KYVLINWVGE DVPDARKCAC ASHVAKVAEF FQGVDVIVNA
SSVEDIDAGA IGQRLSNGLA RLSSPVLHRL RLREDENAEP VGTTYQKTDA AVEMKRINRE
QFWEQAKKEE ELRKEEERKK ALDERLRFEQ ERMEQERQEQ EERERRYRER EQQIEEHRRK
QQTLEAEEAK RRLKEQSIFG DHRDEEEETH MKKSESEVEE AAAIIAQRPD NPREFFKQQE
RVASASAGSC DVPSPFNHRP GSHLDSHRRM APTPIPTRSP SDSSTASTPV AEQIERALDE
VTSSQPPPLP PPPPPAQETQ EPSPILDSEE TRAAAPQAWA GPMEEPPQAQ APPRGPGSPA
EDLMFMESAE QAVLAAPVEP ATADATEIHD AADTIETDTA TADTTVANNV PPAATSLIDL
WPGNGEGAST LQGEPRAPTP PSGTEVTLAE VPLLDEVAPE PLLPAGEGCA TLLNFDELPE
PPATFCDPEE VEGESLAAPQ TPTLPSALEE LEQEQEPEPH LLTNGETTQK EGTQASEGYF
SQSQEEEFAQ SEELCAKAPP PVFYNKPPEI DITCWDADPV PEEEEGFEGG D*

mutated AA sequence

MAGHPWHGTA ALASSQAWRD GRERQALVSC RALYTYEDGS DDLKLAASGE GGLQELSGHF
ENQKVMYGFC SVKDSQAALP KYVLINWVGE DVPDARKCAC ASHVAKVAEF FQGVDVIVNA
SSVEDIDAGA IGQRLSNGLA RLSSPVLHRL RLREDENAEP VGTTYQKTDA AVEMKRINRE
QFWEQAKKEE ELRKEEERKK ALDERLRFEQ ERMEQERQEQ EERERRYRER EQQIEEHRRK
QQTLEAEEAK RRLKEQSIFG DHRDEEEETH MKKSESEVEE AAAIIAQRPD NPREFFKQQE
RVASASAGSC DVPSPFNHRP GSHLDSHRRM APTPIPTRSP SDSSTASTPV AEQIERALDE
VTSSQPPPLP PPPPPAQETQ EPSPILDSEE TRAAAPQAWA GPMEEPPQAQ APPRGPGSPA
EDLMFMESAE QAVLAAPVEP ATADATEVHD AADTIETDTA TADTTVANNV PPAATSLIDL
WPGNGEGAST LQGEPRAPTP PSGTEVTLAE VPLLDEVAPE PLLPAGEGCA TLLNFDELPE
PPATFCDPEE VEGESLAAPQ TPTLPSALEE LEQEQEPEPH LLTNGETTQK EGTQASEGYF
SQSQEEEFAQ SEELCAKAPP PVFYNKPPEI DITCWDADPV PEEEEGFEGG D*

speed

0.86 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999985 (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)

chr5:176885499T>CN/A show variant in all transcripts IGV

HGNC symbol

DBN1

Ensembl transcript ID

ENST00000512501

Genbank transcript ID

N/A

UniProt peptide

Q16643

alteration type

single base exchange

alteration region

CDS

DNA changes

c.532A>G
cDNA.747A>G
g.15904A>G

AA changes

I178V Score: 29 explain score(s)

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

178

frameshift

known variant

Reference ID: rs2544809

database	homozygous (C/C)	heterozygous	allele carriers
1000G	451	1078	1529
ExAC	13836	5095	18931

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.282	0.006
	1.073	0.008
(flanking)	0.492	0.005

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	15897	wt: 0.2300 / mu: 0.2505 (marginal change - not scored)	wt: GACGCCACGGAGATC mu: GACGCCACGGAGGTC	CGCC\|acgg
Donor gained	15898	0.96	mu: ACGCCACGGAGGTCC	GCCA\|cgga

distance from splice site

210

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

178

mutated

all conserved

178

Ptroglodytes

all conserved

ENSPTRG00000017586

448

Mmulatta

all conserved

ENSMMUG00000022891

447

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000034675

498

DVH

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000001232

464

Drerio

all conserved

ENSDARG00000069113

361

Dmelanogaster

not conserved

FBgn0036372

404

Celegans

all identical

K08E3.4

604

Xtropicalis

all conserved

ENSXETG00000007241

412

protein features

start (aa)	end (aa)	feature	details
331	331	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
335	335	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
337	337	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
339	339	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
342	342	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
343	343	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
345	345	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
346	346	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
601	601	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
622	622	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1176 / 1176

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

392 / 392

position of stopcodon in wt / mu cDNA

1391 / 1391

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

216 / 216

chromosome

strand

-1

last intron/exon boundary

538

theoretical NMD boundary in CDS

272

length of CDS

1176

coding sequence (CDS) position

532

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

747

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

15904

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

176885499

original gDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered gDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

original cDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered cDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

wildtype AA sequence

MKKSESEVEE AAAIIAQRPD NPREFFKQQE RVASASAGSC DVPSPFNHRP GSHLDSHRRM
APTPIPTRSP SDSSTASTPV AEQIERALDE VTSSQPPPLP PPPPPAQETQ EPSPILDSEE
TRAAAPQAWA GPMEEPPQAQ APPRGPGSPA EDLMFMESAE QAVLAAPVEP ATADATEIHD
AADTIETDTA TADTTVANNV PPAATSLIDL WPGNGEGAST LQGEPRAPTP PSGTEVTLAE
VPLLDEVAPE PLLPAGEGCA TLLNFDELPE PPATFCDPEE VEGESLAAPQ TPTLPSALEE
LEQEQEPEPH LLTNGETTQK EGTQVRQGLP GGRDGREWGL SRVLALHSSC LHQYPLLCDP
HYLRGSPSHP PSLGRLCFCS QGRHPCFPGN H*

mutated AA sequence

MKKSESEVEE AAAIIAQRPD NPREFFKQQE RVASASAGSC DVPSPFNHRP GSHLDSHRRM
APTPIPTRSP SDSSTASTPV AEQIERALDE VTSSQPPPLP PPPPPAQETQ EPSPILDSEE
TRAAAPQAWA GPMEEPPQAQ APPRGPGSPA EDLMFMESAE QAVLAAPVEP ATADATEVHD
AADTIETDTA TADTTVANNV PPAATSLIDL WPGNGEGAST LQGEPRAPTP PSGTEVTLAE
VPLLDEVAPE PLLPAGEGCA TLLNFDELPE PPATFCDPEE VEGESLAAPQ TPTLPSALEE
LEQEQEPEPH LLTNGETTQK EGTQVRQGLP GGRDGREWGL SRVLALHSSC LHQYPLLCDP
HYLRGSPSHP PSLGRLCFCS QGRHPCFPGN H*

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999985 (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)

chr5:176885499T>CN/A show variant in all transcripts IGV

HGNC symbol

DBN1

Ensembl transcript ID

ENST00000393563

Genbank transcript ID

N/A

UniProt peptide

Q16643

alteration type

single base exchange

alteration region

CDS

DNA changes

c.532A>G
cDNA.723A>G
g.15904A>G

AA changes

I178V Score: 29 explain score(s)

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

178

frameshift

known variant

Reference ID: rs2544809

database	homozygous (C/C)	heterozygous	allele carriers
1000G	451	1078	1529
ExAC	13836	5095	18931

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.282	0.006
	1.073	0.008
(flanking)	0.492	0.005

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	15897	wt: 0.2300 / mu: 0.2505 (marginal change - not scored)	wt: GACGCCACGGAGATC mu: GACGCCACGGAGGTC	CGCC\|acgg
Donor gained	15898	0.96	mu: ACGCCACGGAGGTCC	GCCA\|cgga

distance from splice site

210

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

178

mutated

all conserved

178

Ptroglodytes

all conserved

ENSPTRG00000017586

448

Mmulatta

all conserved

ENSMMUG00000022891

447

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000034675

498

DVH

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000001232

464

Drerio

all conserved

ENSDARG00000069113

361

Dmelanogaster

not conserved

FBgn0036372

404

Celegans

all identical

K08E3.4

604

Xtropicalis

all conserved

ENSXETG00000007241

412

protein features

start (aa)	end (aa)	feature	details
331	331	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
335	335	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
337	337	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
339	339	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
342	342	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
343	343	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
345	345	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
346	346	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
601	601	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
622	622	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1146 / 1146

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

382 / 382

position of stopcodon in wt / mu cDNA

1337 / 1337

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

192 / 192

chromosome

strand

-1

last intron/exon boundary

1267

theoretical NMD boundary in CDS

1025

length of CDS

1146

coding sequence (CDS) position

532

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

723

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

15904

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

176885499

original gDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered gDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

original cDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered cDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

wildtype AA sequence

MKKSESEVEE AAAIIAQRPD NPREFFKQQE RVASASAGSC DVPSPFNHRP GSHLDSHRRM
APTPIPTRSP SDSSTASTPV AEQIERALDE VTSSQPPPLP PPPPPAQETQ EPSPILDSEE
TRAAAPQAWA GPMEEPPQAQ APPRGPGSPA EDLMFMESAE QAVLAAPVEP ATADATEIHD
AADTIETDTA TADTTVANNV PPAATSLIDL WPGNGEGAST LQGEPRAPTP PSGTEVTLAE
VPLLDEVAPE PLLPAGEGCA TLLNFDELPE PPATFCDPEE VEGESLAAPQ TPTLPSALEE
LEQEQEPEPH LLTNGETTQK EGTQASEGYF SQSQEEEFAQ SEELCAKAPP PVFYNKPPEI
DITCWDADPV PEEEEGFEGG D*

mutated AA sequence

MKKSESEVEE AAAIIAQRPD NPREFFKQQE RVASASAGSC DVPSPFNHRP GSHLDSHRRM
APTPIPTRSP SDSSTASTPV AEQIERALDE VTSSQPPPLP PPPPPAQETQ EPSPILDSEE
TRAAAPQAWA GPMEEPPQAQ APPRGPGSPA EDLMFMESAE QAVLAAPVEP ATADATEVHD
AADTIETDTA TADTTVANNV PPAATSLIDL WPGNGEGAST LQGEPRAPTP PSGTEVTLAE
VPLLDEVAPE PLLPAGEGCA TLLNFDELPE PPATFCDPEE VEGESLAAPQ TPTLPSALEE
LEQEQEPEPH LLTNGETTQK EGTQASEGYF SQSQEEEFAQ SEELCAKAPP PVFYNKPPEI
DITCWDADPV PEEEEGFEGG D*

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999973 (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)

chr5:176885499T>CN/A show variant in all transcripts IGV

HGNC symbol

DBN1

Ensembl transcript ID

ENST00000393565

Genbank transcript ID

N/A

UniProt peptide

Q16643

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1474A>G
cDNA.1590A>G
g.15904A>G

AA changes

I492V Score: 29 explain score(s)

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

492

frameshift

known variant

Reference ID: rs2544809

database	homozygous (C/C)	heterozygous	allele carriers
1000G	451	1078	1529
ExAC	13836	5095	18931

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.282	0.006
	1.073	0.008
(flanking)	0.492	0.005

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	15897	wt: 0.2300 / mu: 0.2505 (marginal change - not scored)	wt: GACGCCACGGAGATC mu: GACGCCACGGAGGTC	CGCC\|acgg
Donor gained	15898	0.96	mu: ACGCCACGGAGGTCC	GCCA\|cgga

distance from splice site

210

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

492

mutated

all conserved

492

Ptroglodytes

all conserved

ENSPTRG00000017586

448

Mmulatta

all conserved

ENSMMUG00000022891

447

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000034675

498

DVH

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000001232

460

Drerio

all conserved

ENSDARG00000069113

361

Dmelanogaster

all conserved

FBgn0036372

254

Celegans

all identical

K08E3.4

604

Xtropicalis

all conserved

ENSXETG00000007241

404

protein features

start (aa)	end (aa)	feature	details
601	601	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
622	622	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2088 / 2088

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

696 / 696

position of stopcodon in wt / mu cDNA

2204 / 2204

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

117 / 117

chromosome

strand

-1

last intron/exon boundary

2134

theoretical NMD boundary in CDS

1967

length of CDS

2088

coding sequence (CDS) position

1474

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

1590

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

15904

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

176885499

original gDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered gDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

original cDNA sequence snippet

CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC

altered cDNA sequence snippet

CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC

wildtype AA sequence

MAGVSFSGHR LELLAAYEEV IREESAADWA LYTYEDGSDD LKLAASGEGG LQELSGHFEN
QKVMYGFCSV KDSQAALPKY VLINWVGEDV PDARKCACAS HVAKVAEFFQ GVDVIVNASS
VEDIDAGAIG QRLSNGLARL SSPVLHRLRL REDENAEPVG TTYQKTDAAV EMKRINREQF
WEQAKKEEEL RKEEERKKAL DERLRFEQER MEQERQEQEE RERRYREREQ QIEEHRRKQQ
TLEAEEAKRR LKEQSIFGDH RDEEEETHMK KSESEVEEAA AIIAQRPDNP REFFKQQERV
ASASAGSCDV PSPFNHRPGR PYCPFIKASD SGPSSSSSSS SSPPRTPFPY ITCHRTPNLS
SSLPCSHLDS HRRMAPTPIP TRSPSDSSTA STPVAEQIER ALDEVTSSQP PPLPPPPPPA
QETQEPSPIL DSEETRAAAP QAWAGPMEEP PQAQAPPRGP GSPAEDLMFM ESAEQAVLAA
PVEPATADAT EIHDAADTIE TDTATADTTV ANNVPPAATS LIDLWPGNGE GASTLQGEPR
APTPPSGTEV TLAEVPLLDE VAPEPLLPAG EGCATLLNFD ELPEPPATFC DPEEVEGESL
AAPQTPTLPS ALEELEQEQE PEPHLLTNGE TTQKEGTQAS EGYFSQSQEE EFAQSEELCA
KAPPPVFYNK PPEIDITCWD ADPVPEEEEG FEGGD*

mutated AA sequence

MAGVSFSGHR LELLAAYEEV IREESAADWA LYTYEDGSDD LKLAASGEGG LQELSGHFEN
QKVMYGFCSV KDSQAALPKY VLINWVGEDV PDARKCACAS HVAKVAEFFQ GVDVIVNASS
VEDIDAGAIG QRLSNGLARL SSPVLHRLRL REDENAEPVG TTYQKTDAAV EMKRINREQF
WEQAKKEEEL RKEEERKKAL DERLRFEQER MEQERQEQEE RERRYREREQ QIEEHRRKQQ
TLEAEEAKRR LKEQSIFGDH RDEEEETHMK KSESEVEEAA AIIAQRPDNP REFFKQQERV
ASASAGSCDV PSPFNHRPGR PYCPFIKASD SGPSSSSSSS SSPPRTPFPY ITCHRTPNLS
SSLPCSHLDS HRRMAPTPIP TRSPSDSSTA STPVAEQIER ALDEVTSSQP PPLPPPPPPA
QETQEPSPIL DSEETRAAAP QAWAGPMEEP PQAQAPPRGP GSPAEDLMFM ESAEQAVLAA
PVEPATADAT EVHDAADTIE TDTATADTTV ANNVPPAATS LIDLWPGNGE GASTLQGEPR
APTPPSGTEV TLAEVPLLDE VAPEPLLPAG EGCATLLNFD ELPEPPATFC DPEEVEGESL
AAPQTPTLPS ALEELEQEQE PEPHLLTNGE TTQKEGTQAS EGYFSQSQEE EFAQSEELCA
KAPPPVFYNK PPEIDITCWD ADPVPEEEEG FEGGD*

speed

0.80 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

Problems