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: ENST00000372723
Querying Taster for transcript #2: ENST00000372722
Querying Taster for transcript #3: ENST00000357275
Querying Taster for transcript #4: ENST00000372720
Querying Taster for transcript #5: ENST00000372717
Querying Taster for transcript #6: ENST00000360981
Querying Taster for transcript #7: ENST00000372712
Querying Taster for transcript #8: ENST00000372710
MT speed 0 s - this script 5.984654 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DBNDD2	polymorphism_automatic	6.39331150242839e-08	simple_aae		affected		M94V	single base exchange	rs1127497		show file
DBNDD2	polymorphism_automatic	6.39331150242839e-08	simple_aae		affected		M94V	single base exchange	rs1127497		show file
DBNDD2	polymorphism_automatic	6.39331150242839e-08	simple_aae		affected		M192V	single base exchange	rs1127497		show file
DBNDD2	polymorphism_automatic	6.39331150242839e-08	simple_aae		affected		M94V	single base exchange	rs1127497		show file
DBNDD2	polymorphism_automatic	6.39331150242839e-08	simple_aae		affected		M94V	single base exchange	rs1127497		show file
DBNDD2	polymorphism_automatic	6.39331150242839e-08	simple_aae		affected		M196V	single base exchange	rs1127497		show file
DBNDD2	polymorphism_automatic	0.999999999738211	without_aae		affected			single base exchange	rs1127497		show file
DBNDD2	polymorphism_automatic	0.999999999738211	without_aae		affected			single base exchange	rs1127497		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999936066885 (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)

chr20:44038574A>GN/A show variant in all transcripts IGV

HGNC symbol

DBNDD2

Ensembl transcript ID

ENST00000372723

Genbank transcript ID

NM_001048221

UniProt peptide

Q9BQY9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.280A>G
cDNA.442A>G
g.3878A>G

AA changes

M94V Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs1127497

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1509	794	2303
ExAC	6485	3169	9654

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.185	0.973
	0.47	0.967
(flanking)	0.976	0.964

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	3875	sequence motif lost	-	wt: gcag\|GGAT mu: gcag.GGGT
Acc marginally increased	3871	wt: 0.9964 / mu: 0.9969 (marginal change - not scored)	wt: CTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTT mu: CTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTT	ctgg\|GCAG
Acc marginally increased	3870	wt: 0.9835 / mu: 0.9879 (marginal change - not scored)	wt: CCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATT mu: CCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATT	tctg\|GGCA
Acc marginally increased	3868	wt: 0.2593 / mu: 0.3432 (marginal change - not scored)	wt: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCA mu: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCA	tctc\|TGGG
Acc marginally decreased	3875	wt: 0.9190 / mu: 0.9181 (marginal change - not scored)	wt: CCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAG mu: CCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAG	gcag\|GGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000013544

Mmulatta

all conserved

ENSMMUG00000003409

193

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000017734

Ggallus

not conserved

ENSGALG00000003921

DAS

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074904

112

GEEGSL

DLEE

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
162	162	CONFLICT	Q -> H (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)
192	192	CONFLICT	M -> V (in Ref. 1; AAF67656, 2; BAA91235 and 5; AAH12818/AAH01105).	might get lost (downstream of altered splice site)
204	204	CONFLICT	P -> A (in Ref. 1; AAF67656).	might get lost (downstream of altered splice site)
214	222	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
215	215	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
244	247	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
249	249	CONFLICT	G -> D (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

486 / 486

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

162 / 162

position of stopcodon in wt / mu cDNA

648 / 648

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

163 / 163

chromosome

strand

last intron/exon boundary

440

theoretical NMD boundary in CDS

227

length of CDS

486

coding sequence (CDS) position

280

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

442

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

3878

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

44038574

original gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAGGAG

altered gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAGGAG

original cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGATGGACAACCATTTGGAGGAG

altered cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGGTGGACAACCATTTGGAGGAG

wildtype AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGMDNHLEE LSLPVPTSDR TTSRTSSSSS
SDSSTNLHSP NPSDDGADTP LAQSDEEEER GDGGAEPGAC S*

mutated AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGVDNHLEE LSLPVPTSDR TTSRTSSSSS
SDSSTNLHSP NPSDDGADTP LAQSDEEEER GDGGAEPGAC S*

speed

0.79 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: 0.999999936066885 (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)

chr20:44038574A>GN/A show variant in all transcripts IGV

HGNC symbol

DBNDD2

Ensembl transcript ID

ENST00000357275

Genbank transcript ID

NM_001197140

UniProt peptide

Q9BQY9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.280A>G
cDNA.360A>G
g.3878A>G

AA changes

M94V Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs1127497

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1509	794	2303
ExAC	6485	3169	9654

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.185	0.973
	0.47	0.967
(flanking)	0.976	0.964

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	3875	sequence motif lost	-	wt: gcag\|GGAT mu: gcag.GGGT
Acc marginally increased	3871	wt: 0.9964 / mu: 0.9969 (marginal change - not scored)	wt: CTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTT mu: CTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTT	ctgg\|GCAG
Acc marginally increased	3870	wt: 0.9835 / mu: 0.9879 (marginal change - not scored)	wt: CCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATT mu: CCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATT	tctg\|GGCA
Acc marginally increased	3868	wt: 0.2593 / mu: 0.3432 (marginal change - not scored)	wt: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCA mu: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCA	tctc\|TGGG
Acc marginally decreased	3875	wt: 0.9190 / mu: 0.9181 (marginal change - not scored)	wt: CCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAG mu: CCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAG	gcag\|GGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000013544

Mmulatta

all conserved

ENSMMUG00000003409

193

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000017734

Ggallus

not conserved

ENSGALG00000003921

DAS

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074904

112

GEEGSL

DLEE

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
162	162	CONFLICT	Q -> H (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)
192	192	CONFLICT	M -> V (in Ref. 1; AAF67656, 2; BAA91235 and 5; AAH12818/AAH01105).	might get lost (downstream of altered splice site)
204	204	CONFLICT	P -> A (in Ref. 1; AAF67656).	might get lost (downstream of altered splice site)
214	222	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
215	215	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
244	247	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
249	249	CONFLICT	G -> D (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

486 / 486

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

162 / 162

position of stopcodon in wt / mu cDNA

566 / 566

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

81 / 81

chromosome

strand

last intron/exon boundary

358

theoretical NMD boundary in CDS

227

length of CDS

486

coding sequence (CDS) position

280

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

360

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

3878

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

44038574

original gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAGGAG

altered gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAGGAG

original cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGATGGACAACCATTTGGAGGAG

altered cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGGTGGACAACCATTTGGAGGAG

wildtype AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGMDNHLEE LSLPVPTSDR TTSRTSSSSS
SDSSTNLHSP NPSDDGADTP LAQSDEEEER GDGGAEPGAC S*

mutated AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGVDNHLEE LSLPVPTSDR TTSRTSSSSS
SDSSTNLHSP NPSDDGADTP LAQSDEEEER GDGGAEPGAC S*

speed

0.79 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999936066885 (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)

chr20:44038574A>GN/A show variant in all transcripts IGV

HGNC symbol

DBNDD2

Ensembl transcript ID

ENST00000372720

Genbank transcript ID

NM_018478

UniProt peptide

Q9BQY9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.574A>G
cDNA.805A>G
g.3878A>G

AA changes

M192V Score: 21 explain score(s)

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

192

frameshift

known variant

Reference ID: rs1127497

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1509	794	2303
ExAC	6485	3169	9654

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.185	0.973
	0.47	0.967
(flanking)	0.976	0.964

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	3875	sequence motif lost	-	wt: gcag\|GGAT mu: gcag.GGGT
Acc marginally increased	3871	wt: 0.9964 / mu: 0.9969 (marginal change - not scored)	wt: CTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTT mu: CTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTT	ctgg\|GCAG
Acc marginally increased	3870	wt: 0.9835 / mu: 0.9879 (marginal change - not scored)	wt: CCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATT mu: CCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATT	tctg\|GGCA
Acc marginally increased	3868	wt: 0.2593 / mu: 0.3432 (marginal change - not scored)	wt: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCA mu: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCA	tctc\|TGGG
Acc marginally decreased	3875	wt: 0.9190 / mu: 0.9181 (marginal change - not scored)	wt: CCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAG mu: CCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAG	gcag\|GGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

192

mutated

all conserved

192

Ptroglodytes

all conserved

ENSPTRG00000013544

Mmulatta

all conserved

ENSMMUG00000003409

193

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000017734

Ggallus

not conserved

ENSGALG00000003921

DAS

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074904

112

GEEGSL

DLEE

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
192	192	CONFLICT	M -> V (in Ref. 1; AAF67656, 2; BAA91235 and 5; AAH12818/AAH01105).	lost
204	204	CONFLICT	P -> A (in Ref. 1; AAF67656).	might get lost (downstream of altered splice site)
214	222	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
215	215	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
244	247	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
249	249	CONFLICT	G -> D (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

780 / 780

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

260 / 260

position of stopcodon in wt / mu cDNA

1011 / 1011

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

232 / 232

chromosome

strand

last intron/exon boundary

803

theoretical NMD boundary in CDS

521

length of CDS

780

coding sequence (CDS) position

574

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

805

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

3878

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

44038574

original gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAGGAG

altered gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAGGAG

original cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGATGGACAACCATTTGGAGGAG

altered cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGGTGGACAACCATTTGGAGGAG

wildtype AA sequence

MGAGNFLTAL EVPVAALAGA ASDRRASCER VSPPPPLPHF RLPPLPRSRL PGPVSRPEPG
APLLGCWLQW GAPSPGPLCL LFRLCSCTCF APLPAGADMD PNPRAALERQ QLRLRERQKF
FEDILQPETE FVFPLSHLHL ESQRPPIGSI SSMEVNVDTL EQVELIDLGD PDAADVFLPC
EDPPPTPQSS GMDNHLEELS LPVPTSDRTT SRTSSSSSSD SSTNLHSPNP SDDGADTPLA
QSDEEEERGD GGAEPGACS*

mutated AA sequence

MGAGNFLTAL EVPVAALAGA ASDRRASCER VSPPPPLPHF RLPPLPRSRL PGPVSRPEPG
APLLGCWLQW GAPSPGPLCL LFRLCSCTCF APLPAGADMD PNPRAALERQ QLRLRERQKF
FEDILQPETE FVFPLSHLHL ESQRPPIGSI SSMEVNVDTL EQVELIDLGD PDAADVFLPC
EDPPPTPQSS GVDNHLEELS LPVPTSDRTT SRTSSSSSSD SSTNLHSPNP SDDGADTPLA
QSDEEEERGD GGAEPGACS*

speed

0.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999936066885 (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)

chr20:44038574A>GN/A show variant in all transcripts IGV

HGNC symbol

DBNDD2

Ensembl transcript ID

ENST00000360981

Genbank transcript ID

NM_001048223

UniProt peptide

Q9BQY9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.280A>G
cDNA.402A>G
g.3878A>G

AA changes

M94V Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs1127497

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1509	794	2303
ExAC	6485	3169	9654

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.185	0.973
	0.47	0.967
(flanking)	0.976	0.964

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	3875	sequence motif lost	-	wt: gcag\|GGAT mu: gcag.GGGT
Acc marginally increased	3871	wt: 0.9964 / mu: 0.9969 (marginal change - not scored)	wt: CTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTT mu: CTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTT	ctgg\|GCAG
Acc marginally increased	3870	wt: 0.9835 / mu: 0.9879 (marginal change - not scored)	wt: CCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATT mu: CCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATT	tctg\|GGCA
Acc marginally increased	3868	wt: 0.2593 / mu: 0.3432 (marginal change - not scored)	wt: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCA mu: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCA	tctc\|TGGG
Acc marginally decreased	3875	wt: 0.9190 / mu: 0.9181 (marginal change - not scored)	wt: CCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAG mu: CCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAG	gcag\|GGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000013544

Mmulatta

all conserved

ENSMMUG00000003409

193

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000017734

Ggallus

not conserved

ENSGALG00000003921

DAS

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074904

112

GEEGSL

DLEE

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
162	162	CONFLICT	Q -> H (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)
192	192	CONFLICT	M -> V (in Ref. 1; AAF67656, 2; BAA91235 and 5; AAH12818/AAH01105).	might get lost (downstream of altered splice site)
204	204	CONFLICT	P -> A (in Ref. 1; AAF67656).	might get lost (downstream of altered splice site)
214	222	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
215	215	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
244	247	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
249	249	CONFLICT	G -> D (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

486 / 486

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

162 / 162

position of stopcodon in wt / mu cDNA

608 / 608

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

123 / 123

chromosome

strand

last intron/exon boundary

400

theoretical NMD boundary in CDS

227

length of CDS

486

coding sequence (CDS) position

280

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

402

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

3878

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

44038574

original gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAGGAG

altered gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAGGAG

original cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGATGGACAACCATTTGGAGGAG

altered cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGGTGGACAACCATTTGGAGGAG

wildtype AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGMDNHLEE LSLPVPTSDR TTSRTSSSSS
SDSSTNLHSP NPSDDGADTP LAQSDEEEER GDGGAEPGAC S*

mutated AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGVDNHLEE LSLPVPTSDR TTSRTSSSSS
SDSSTNLHSP NPSDDGADTP LAQSDEEEER GDGGAEPGAC S*

speed

0.88 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999936066885 (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)

chr20:44038574A>GN/A show variant in all transcripts IGV

HGNC symbol

DBNDD2

Ensembl transcript ID

ENST00000372712

Genbank transcript ID

N/A

UniProt peptide

Q9BQY9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.280A>G
cDNA.861A>G
g.3878A>G

AA changes

M94V Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs1127497

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1509	794	2303
ExAC	6485	3169	9654

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.185	0.973
	0.47	0.967
(flanking)	0.976	0.964

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	3875	sequence motif lost	-	wt: gcag\|GGAT mu: gcag.GGGT
Acc marginally increased	3871	wt: 0.9964 / mu: 0.9969 (marginal change - not scored)	wt: CTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTT mu: CTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTT	ctgg\|GCAG
Acc marginally increased	3870	wt: 0.9835 / mu: 0.9879 (marginal change - not scored)	wt: CCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATT mu: CCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATT	tctg\|GGCA
Acc marginally increased	3868	wt: 0.2593 / mu: 0.3432 (marginal change - not scored)	wt: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCA mu: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCA	tctc\|TGGG
Acc marginally decreased	3875	wt: 0.9190 / mu: 0.9181 (marginal change - not scored)	wt: CCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAG mu: CCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAG	gcag\|GGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000013544

Mmulatta

all conserved

ENSMMUG00000003409

193

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000017734

Ggallus

not conserved

ENSGALG00000003921

DAS

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074904

112

GEEGSL

DLEE

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
162	162	CONFLICT	Q -> H (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)
192	192	CONFLICT	M -> V (in Ref. 1; AAF67656, 2; BAA91235 and 5; AAH12818/AAH01105).	might get lost (downstream of altered splice site)
204	204	CONFLICT	P -> A (in Ref. 1; AAF67656).	might get lost (downstream of altered splice site)
214	222	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
215	215	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
244	247	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
249	249	CONFLICT	G -> D (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

486 / 486

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

162 / 162

position of stopcodon in wt / mu cDNA

1067 / 1067

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

582 / 582

chromosome

strand

last intron/exon boundary

859

theoretical NMD boundary in CDS

227

length of CDS

486

coding sequence (CDS) position

280

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

861

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

3878

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

44038574

original gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAGGAG

altered gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAGGAG

original cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGATGGACAACCATTTGGAGGAG

altered cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGGTGGACAACCATTTGGAGGAG

wildtype AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGMDNHLEE LSLPVPTSDR TTSRTSSSSS
SDSSTNLHSP NPSDDGADTP LAQSDEEEER GDGGAEPGAC S*

mutated AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGVDNHLEE LSLPVPTSDR TTSRTSSSSS
SDSSTNLHSP NPSDDGADTP LAQSDEEEER GDGGAEPGAC S*

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999936066885 (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)

chr20:44038574A>GN/A show variant in all transcripts IGV

HGNC symbol

DBNDD2

Ensembl transcript ID

ENST00000372710

Genbank transcript ID

NM_001048225

UniProt peptide

Q9BQY9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.586A>G
cDNA.741A>G
g.3878A>G

AA changes

M196V Score: 21 explain score(s)

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

196

frameshift

known variant

Reference ID: rs1127497

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1509	794	2303
ExAC	6485	3169	9654

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.185	0.973
	0.47	0.967
(flanking)	0.976	0.964

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	3875	sequence motif lost	-	wt: gcag\|GGAT mu: gcag.GGGT
Acc marginally increased	3871	wt: 0.9964 / mu: 0.9969 (marginal change - not scored)	wt: CTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTT mu: CTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTT	ctgg\|GCAG
Acc marginally increased	3870	wt: 0.9835 / mu: 0.9879 (marginal change - not scored)	wt: CCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATT mu: CCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATT	tctg\|GGCA
Acc marginally increased	3868	wt: 0.2593 / mu: 0.3432 (marginal change - not scored)	wt: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCA mu: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCA	tctc\|TGGG
Acc marginally decreased	3875	wt: 0.9190 / mu: 0.9181 (marginal change - not scored)	wt: CCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAG mu: CCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAG	gcag\|GGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

196

mutated

all conserved

196

Ptroglodytes

all conserved

ENSPTRG00000013544

Mmulatta

all conserved

ENSMMUG00000003409

193

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000017734

Ggallus

not conserved

ENSGALG00000003921

DAS

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074904

112

GEEGSL

DLEE

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
204	204	CONFLICT	P -> A (in Ref. 1; AAF67656).	might get lost (downstream of altered splice site)
214	222	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
215	215	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
244	247	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
249	249	CONFLICT	G -> D (in Ref. 2; BAA91235).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

792 / 792

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

264 / 264

position of stopcodon in wt / mu cDNA

947 / 947

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

156 / 156

chromosome

strand

last intron/exon boundary

739

theoretical NMD boundary in CDS

533

length of CDS

792

coding sequence (CDS) position

586

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

741

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

3878

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

44038574

original gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAGGAG

altered gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAGGAG

original cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGATGGACAACCATTTGGAGGAG

altered cDNA sequence snippet

CAACCCCCCAGTCGTCTGGGGTGGACAACCATTTGGAGGAG

wildtype AA sequence

MESWALAVFP EYRVSLLWCL ELASPLWSLG QAPPLHETWF VGHTWFQGRG KRSPRAEVSR
PEPGAPLLGC WLQWGAPSPG PLCLLFRLCS CTCFAPLPAG ADMDPNPRAA LERQQLRLRE
RQKFFEDILQ PETEFVFPLS HLHLESQRPP IGSISSMEVN VDTLEQVELI DLGDPDAADV
FLPCEDPPPT PQSSGMDNHL EELSLPVPTS DRTTSRTSSS SSSDSSTNLH SPNPSDDGAD
TPLAQSDEEE ERGDGGAEPG ACS*

mutated AA sequence

MESWALAVFP EYRVSLLWCL ELASPLWSLG QAPPLHETWF VGHTWFQGRG KRSPRAEVSR
PEPGAPLLGC WLQWGAPSPG PLCLLFRLCS CTCFAPLPAG ADMDPNPRAA LERQQLRLRE
RQKFFEDILQ PETEFVFPLS HLHLESQRPP IGSISSMEVN VDTLEQVELI DLGDPDAADV
FLPCEDPPPT PQSSGVDNHL EELSLPVPTS DRTTSRTSSS SSSDSSTNLH SPNPSDDGAD
TPLAQSDEEE ERGDGGAEPG ACS*

speed

0.79 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 2.61789142422279e-10 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:44038574A>GN/A show variant in all transcripts IGV

HGNC symbol

DBNDD2

Ensembl transcript ID

ENST00000372722

Genbank transcript ID

NM_001048222

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.526A>G
g.3878A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1127497

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1509	794	2303
ExAC	6485	3169	9654

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.185	0.973
	0.47	0.967
(flanking)	0.976	0.964

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

splice sites

alteration within used splice site, likely to disturb normal splicing
splice site change occurs after stopcodon (at aa 125)

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	3875	sequence motif lost	-	wt: gcag\|GGAT mu: gcag.GGGT
Acc marginally increased	3871	wt: 0.9964 / mu: 0.9969 (marginal change - not scored)	wt: CTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTT mu: CTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTT	ctgg\|GCAG
Acc marginally increased	3870	wt: 0.9835 / mu: 0.9879 (marginal change - not scored)	wt: CCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATT mu: CCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATT	tctg\|GGCA
Acc marginally increased	3868	wt: 0.2593 / mu: 0.3432 (marginal change - not scored)	wt: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCA mu: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCA	tctc\|TGGG
Acc marginally decreased	3875	wt: 0.9190 / mu: 0.9181 (marginal change - not scored)	wt: CCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAG mu: CCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAG	gcag\|GGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

149 / 149

chromosome

strand

last intron/exon boundary

524

theoretical NMD boundary in CDS

325

length of CDS

339

coding sequence (CDS) position

N/A

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

526

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

3878

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

44038574

original gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAGGAG

altered gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAGGAG

original cDNA sequence snippet

GGCTGGGGAAGTACACAAGGATGGACAACCATTTGGAGGAG

altered cDNA sequence snippet

GGCTGGGGAAGTACACAAGGGTGGACAACCATTTGGAGGAG

wildtype AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGMPLCFGD FSASQPEPDV RL*

mutated AA sequence

N/A

speed

0.82 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 2.61789142422279e-10 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:44038574A>GN/A show variant in all transcripts IGV

HGNC symbol

DBNDD2

Ensembl transcript ID

ENST00000372717

Genbank transcript ID

NM_001048224

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.531A>G
g.3878A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1127497

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1509	794	2303
ExAC	6485	3169	9654

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.185	0.973
	0.47	0.967
(flanking)	0.976	0.964

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

splice sites

alteration within used splice site, likely to disturb normal splicing
splice site change occurs after stopcodon (at aa 125)

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	3875	sequence motif lost	-	wt: gcag\|GGAT mu: gcag.GGGT
Acc marginally increased	3871	wt: 0.9964 / mu: 0.9969 (marginal change - not scored)	wt: CTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTT mu: CTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTT	ctgg\|GCAG
Acc marginally increased	3870	wt: 0.9835 / mu: 0.9879 (marginal change - not scored)	wt: CCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATT mu: CCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATT	tctg\|GGCA
Acc marginally increased	3868	wt: 0.2593 / mu: 0.3432 (marginal change - not scored)	wt: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCA mu: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCA	tctc\|TGGG
Acc marginally decreased	3875	wt: 0.9190 / mu: 0.9181 (marginal change - not scored)	wt: CCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAG mu: CCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAG	gcag\|GGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

154 / 154

chromosome

strand

last intron/exon boundary

529

theoretical NMD boundary in CDS

325

length of CDS

339

coding sequence (CDS) position

N/A

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

531

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

3878

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

44038574

original gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAGGAG

altered gDNA sequence snippet

GCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAGGAG

original cDNA sequence snippet

GGCTGGGGAAGTACACAAGGATGGACAACCATTTGGAGGAG

altered cDNA sequence snippet

GGCTGGGGAAGTACACAAGGGTGGACAACCATTTGGAGGAG

wildtype AA sequence

MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGMPLCFGD FSASQPEPDV RL*

mutated AA sequence

N/A

speed

0.85 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