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 13 transcript(s)...
Querying Taster for transcript #1: ENST00000367927
Querying Taster for transcript #2: ENST00000425515
Querying Taster for transcript #3: ENST00000509351
Querying Taster for transcript #4: ENST00000417437
Querying Taster for transcript #5: ENST00000414302
Querying Taster for transcript #6: ENST00000423615
Querying Taster for transcript #7: ENST00000427187
Querying Taster for transcript #8: ENST00000275223
Querying Taster for transcript #9: ENST00000519686
Querying Taster for transcript #10: ENST00000392393
Querying Taster for transcript #11: ENST00000450865
Querying Taster for transcript #12: ENST00000207771
Querying Taster for transcript #13: ENST00000392394
MT speed 0 s - this script 6.637931 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
VNN3	polymorphism_automatic	1.54498636106837e-12	simple_aae		affected		C132Y	single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	1.54498636106837e-12	simple_aae		affected		C132Y	single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file
VNN3	polymorphism_automatic	3.76547319991261e-08	without_aae		affected			single base exchange	rs4895943		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998455 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000392393

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.395G>A
cDNA.468G>A
g.3289G>A

AA changes

C132Y Score: 194 explain score(s)

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

132

frameshift

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

132

mutated

not conserved

132

Ptroglodytes

no alignment

ENSPTRG00000018614

n/a

Mmulatta

no alignment

ENSMMUG00000015090

n/a

Fcatus

no alignment

ENSFCAG00000011134

n/a

Mmusculus

no alignment

ENSMUSG00000020010

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0040069

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

444 / 444

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

148 / 148

position of stopcodon in wt / mu cDNA

517 / 517

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

74 / 74

chromosome

strand

-1

last intron/exon boundary

1475

theoretical NMD boundary in CDS

1351

length of CDS

444

coding sequence (CDS) position

395

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

468

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

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered cDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRKSKKM
NEPVSKELCY HCHSECNQYG QWKLYRT*

mutated AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRKSKKM
NEPVSKELCY HYHSECNQYG QWKLYRT*

speed

0.82 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: 0.999999999998455 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000392394

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.395G>A
cDNA.468G>A
g.3289G>A

AA changes

C132Y Score: 194 explain score(s)

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

132

frameshift

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

132

mutated

not conserved

132

Ptroglodytes

no alignment

ENSPTRG00000018614

n/a

Mmulatta

no alignment

ENSMMUG00000015090

n/a

Fcatus

no alignment

ENSFCAG00000011134

n/a

Mmusculus

no alignment

ENSMUSG00000020010

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0040069

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

444 / 444

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

148 / 148

position of stopcodon in wt / mu cDNA

517 / 517

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

74 / 74

chromosome

strand

-1

last intron/exon boundary

418

theoretical NMD boundary in CDS

294

length of CDS

444

coding sequence (CDS) position

395

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

468

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

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered cDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRKSKKM
NEPVSKELCY HCHSECNQYG QWKLYRT*

mutated AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRKSKKM
NEPVSKELCY HYHSECNQYG QWKLYRT*

speed

0.87 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000367927

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2544

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

74 / 74

chromosome

strand

-1

last intron/exon boundary

1450

theoretical NMD boundary in CDS

1326

length of CDS

825

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.69 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000425515

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2498

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

74 / 74

chromosome

strand

-1

last intron/exon boundary

1496

theoretical NMD boundary in CDS

1372

length of CDS

354

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRNH*

mutated AA sequence

N/A

speed

0.56 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000509351

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2776

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

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

719

theoretical NMD boundary in CDS

668

length of CDS

390

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWREWNLR
PRSSQGVPL*

mutated AA sequence

N/A

speed

0.67 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000417437

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2776

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

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

989

theoretical NMD boundary in CDS

938

length of CDS

486

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QVLPFYTCKG DLQFGQRVFG IHDKLFCPTC FEQGAHIIVT PEDGIYGWIF
TRESIYPYLE DIPDPGVNWI PCRDPWREWN LRPRSSQGVP L*

mutated AA sequence

N/A

speed

0.49 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000414302

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2776

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

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

1184

theoretical NMD boundary in CDS

1133

length of CDS

402

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWSTIFLH
LKFSLISPRI QNL*

mutated AA sequence

N/A

speed

0.68 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000423615

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2776

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

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

893

theoretical NMD boundary in CDS

842

length of CDS

390

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWREWNLR
PRSSQGVPL*

mutated AA sequence

N/A

speed

0.49 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000427187

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2544

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

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

1086

theoretical NMD boundary in CDS

1035

length of CDS

624

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.74 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000275223

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2498

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

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

1132

theoretical NMD boundary in CDS

1081

length of CDS

354

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRNH*

mutated AA sequence

N/A

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000519686

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2498

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

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

1249

theoretical NMD boundary in CDS

1198

length of CDS

354

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRNH*

mutated AA sequence

N/A

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000450865

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2776

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

74 / 74

chromosome

strand

-1

last intron/exon boundary

538

theoretical NMD boundary in CDS

414

length of CDS

510

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QQGAHIIVTP EDGIYGWIFT RESIYPYLED IPDPGVNWIP CRDPWSMVQH
AAPPLGCSLP FSMGQGHGSQ STCCKYPQHQ HAHDREWNLR PRSSQGVPL*

mutated AA sequence

N/A

speed

0.49 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (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)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000207771

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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
Acc increased	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

2544

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

74 / 74

chromosome

strand

-1

last intron/exon boundary

1448

theoretical NMD boundary in CDS

1324

length of CDS

1503

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)

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRFGNTP
VQQRLSCLAK DNSIYVVANI GDKKPCNASD SQCPPDGRYQ YNTDVVFDSQ GKLLARYHKY
NLFAPEIQFD FPKDSELVTF DTPFGKFGIF TCFDIFSHDP AVVVVDESID SILYPTAWYN
TLPLLSAVPF HSAWAKAMGV NLLAANTHNT SMHMTGSGIY APEAVKVYHY DMETESGQLL
LSELKSRPRR EPTYPAAVDW HAYASSVKPF SSEQSDFLGM IYFDEFTFTK LKRNTGNYTA
CQKDLCCHLT YKMSEKRTDE IYALGAFDGL HTVEGQYYLQ ICALLKCQTT DLETCGEPVG
SAFTKFEDFS LSGTFGTRYV FPQIILSGSQ LAPERHYEIS RDGRLRSRSG APLPVLVMAL
YGRVFEKDPP RLGQGSGKFQ *

mutated AA sequence

N/A

speed

0.32 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

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