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 18 transcript(s)...
Querying Taster for transcript #1: ENST00000439476
Querying Taster for transcript #2: ENST00000525528
Querying Taster for transcript #3: ENST00000395986
Querying Taster for transcript #4: ENST00000533131
Querying Taster for transcript #5: ENST00000356660
Querying Taster for transcript #6: ENST00000418212
Querying Taster for transcript #7: ENST00000533246
Querying Taster for transcript #8: ENST00000530861
Querying Taster for transcript #9: ENST00000395983
Querying Taster for transcript #10: ENST00000438929
Querying Taster for transcript #11: ENST00000532997
Querying Taster for transcript #12: ENST00000395981
Querying Taster for transcript #13: ENST00000395978
Querying Taster for transcript #14: ENST00000525950
Querying Taster for transcript #15: ENST00000314915
Querying Taster for transcript #16: ENST00000528035
Querying Taster for transcript #17: ENST00000395980
Querying Taster for transcript #18: ENST00000420794
MT speed 0 s - this script 8.211934 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V81M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V74M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.99999902048063	simple_aae				V66M	single base exchange	rs6265		show file
BDNF	polymorphism_automatic	0.999999878627032	simple_aae				V148M	single base exchange	rs6265		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000439476

Genbank transcript ID

NM_001143816

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.1056G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1604 / 1604

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

861 / 861

chromosome

strand

-1

last intron/exon boundary

840

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

1056

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHMIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

speed

0.53 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: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000525528

Genbank transcript ID

NM_170735

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.1290G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

1290

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1838 / 1838

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

1095 / 1095

chromosome

strand

-1

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

1290

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.53 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000395986

Genbank transcript ID

NM_170734

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.241G>A
cDNA.503G>A
g.63690G>A

AA changes

V81M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

106

TTT

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

789 / 789

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

263 / 263

position of stopcodon in wt / mu cDNA

1051 / 1051

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

263 / 263

chromosome

strand

-1

last intron/exon boundary

287

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

789

coding sequence (CDS) position

241

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

503

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

MQSREEEWFH QVRRVMTILF LTMVISYFGC MKAAPMKEAN IRGQGGLAYP GVRTHGTLES
VNGPKAGSRG LTSLADTFEH VIEELLDEDQ KVRPNEENNK DADLYTSRVM LSSQVPLEPP
LLFLLEEYKN YLDAANMSMR VRRHSDPARR GELSVCDSIS EWVTAADKKT AVDMSGGTVT
VLEKVPVSKG QLKQYFYETK CNPMGYTKEG CRGIDKRHWN SQCRTTQSYV RALTMDSKKR
IGWRFIRIDT SCVCTLTIKR GR*

mutated AA sequence

MQSREEEWFH QVRRVMTILF LTMVISYFGC MKAAPMKEAN IRGQGGLAYP GVRTHGTLES
VNGPKAGSRG LTSLADTFEH MIEELLDEDQ KVRPNEENNK DADLYTSRVM LSSQVPLEPP
LLFLLEEYKN YLDAANMSMR VRRHSDPARR GELSVCDSIS EWVTAADKKT AVDMSGGTVT
VLEKVPVSKG QLKQYFYETK CNPMGYTKEG CRGIDKRHWN SQCRTTQSYV RALTMDSKKR
IGWRFIRIDT SCVCTLTIKR GR*

speed

0.52 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.79519370361831e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000533131

Genbank transcript ID

N/A

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.402G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

950 / 950

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

207 / 207

chromosome

strand

-1

last intron/exon boundary

186

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

402

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.34 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000356660

Genbank transcript ID

NM_001709

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.542G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1090 / 1090

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

347 / 347

chromosome

strand

-1

last intron/exon boundary

326

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

542

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.44 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000418212

Genbank transcript ID

NM_001143814

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.649G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1197 / 1197

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

454 / 454

chromosome

strand

-1

last intron/exon boundary

433

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

649

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.22 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000533246

Genbank transcript ID

NM_001143813

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.524G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1072 / 1072

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

329 / 329

chromosome

strand

-1

last intron/exon boundary

308

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

524

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.23 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000530861

Genbank transcript ID

NM_001143812

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.442G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

990 / 990

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

247 / 247

chromosome

strand

-1

last intron/exon boundary

226

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

442

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.53 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000395983

Genbank transcript ID

NM_001143808

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.300G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

848 / 848

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

105 / 105

chromosome

strand

-1

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

300

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.55 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000532997

Genbank transcript ID

NM_001143807

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.454G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1002 / 1002

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

259 / 259

chromosome

strand

-1

last intron/exon boundary

238

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

454

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.17 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000395981

Genbank transcript ID

NM_170732

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.595G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1143 / 1143

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

400 / 400

chromosome

strand

-1

last intron/exon boundary

379

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

595

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.46 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000395978

Genbank transcript ID

NM_001143806

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.512G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1060 / 1060

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

317 / 317

chromosome

strand

-1

last intron/exon boundary

296

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

512

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

1.01 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.79519370361831e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000525950

Genbank transcript ID

NM_001143805

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.353G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

901 / 901

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

158 / 158

chromosome

strand

-1

last intron/exon boundary

137

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

353

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.31 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000314915

Genbank transcript ID

NM_170731

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.220G>A
cDNA.864G>A
g.63690G>A

AA changes

V74M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

106

TTT

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

768 / 768

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

256 / 256

position of stopcodon in wt / mu cDNA

1412 / 1412

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

645 / 645

chromosome

strand

-1

last intron/exon boundary

648

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

768

coding sequence (CDS) position

220

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

864

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

MFHQVRRVMT ILFLTMVISY FGCMKAAPMK EANIRGQGGL AYPGVRTHGT LESVNGPKAG
SRGLTSLADT FEHVIEELLD EDQKVRPNEE NNKDADLYTS RVMLSSQVPL EPPLLFLLEE
YKNYLDAANM SMRVRRHSDP ARRGELSVCD SISEWVTAAD KKTAVDMSGG TVTVLEKVPV
SKGQLKQYFY ETKCNPMGYT KEGCRGIDKR HWNSQCRTTQ SYVRALTMDS KKRIGWRFIR
IDTSCVCTLT IKRGR*

mutated AA sequence

MFHQVRRVMT ILFLTMVISY FGCMKAAPMK EANIRGQGGL AYPGVRTHGT LESVNGPKAG
SRGLTSLADT FEHMIEELLD EDQKVRPNEE NNKDADLYTS RVMLSSQVPL EPPLLFLLEE
YKNYLDAANM SMRVRRHSDP ARRGELSVCD SISEWVTAAD KKTAVDMSGG TVTVLEKVPV
SKGQLKQYFY ETKCNPMGYT KEGCRGIDKR HWNSQCRTTQ SYVRALTMDS KKRIGWRFIR
IDTSCVCTLT IKRGR*

speed

0.43 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.79519370361831e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000528035

Genbank transcript ID

N/A

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.337G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

600 / 600

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

200 / 200

position of stopcodon in wt / mu cDNA

741 / 741

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

142 / 142

chromosome

strand

-1

last intron/exon boundary

596

theoretical NMD boundary in CDS

404

length of CDS

600

coding sequence (CDS) position

196

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

337

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKRHWNSQC RTTQSYVRAL TMDSKKRIGW
RFIRIDTSCV CTLTIKRGR*

mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHMIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKRHWNSQC RTTQSYVRAL TMDSKKRIGW
RFIRIDTSCV CTLTIKRGR*

speed

0.34 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000395980

Genbank transcript ID

NM_170733

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.554G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1102 / 1102

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

359 / 359

chromosome

strand

-1

last intron/exon boundary

338

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

554

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.52 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 9.7951937036183e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000420794

Genbank transcript ID

NM_001143811

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.196G>A
cDNA.700G>A
g.63690G>A

AA changes

V66M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

108

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
19	128	PROPEP	/FTId=PRO_0000019633.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1248 / 1248

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

505 / 505

chromosome

strand

-1

last intron/exon boundary

484

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

744

coding sequence (CDS) position

196

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

700

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

mutated AA sequence

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.21372968316439e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM020369)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:27679916C>TN/A show variant in all transcripts IGV

HGNC symbol

BDNF

Ensembl transcript ID

ENST00000438929

Genbank transcript ID

NM_001143810

UniProt peptide

P23560

alteration type

single base exchange

alteration region

CDS

DNA changes

c.442G>A
cDNA.583G>A
g.63690G>A

AA changes

V148M Score: 21 explain score(s)

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

148

frameshift

known variant

Reference ID: rs6265

database	homozygous (T/T)	heterozygous	allele carriers
1000G	173	662	835
ExAC	2879	17753	20632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.591	1
	3.688	1
(flanking)	-0.409	0.763

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	63695	wt: 0.9475 / mu: 0.9537 (marginal change - not scored)	wt: GTGATAGAAGAGCTG mu: ATGATAGAAGAGCTG	GATA\|gaag
Donor marginally increased	63693	wt: 0.9918 / mu: 0.9948 (marginal change - not scored)	wt: ACGTGATAGAAGAGC mu: ACATGATAGAAGAGC	GTGA\|taga

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

148

mutated

all conserved

148

Ptroglodytes

all identical

ENSPTRG00000028696

Mmulatta

all identical

ENSMMUG00000008634

Fcatus

all identical

ENSFCAG00000011653

Mmusculus

all identical

ENSMUSG00000048482

106

TTT

Ggallus

all identical

ENSGALG00000012163

Trubripes

all identical

ENSTRUG00000017268

Drerio

all identical

ENSDARG00000018817

EGEAT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004284

protein features

start (aa)	end (aa)	feature	details
143	149	STRAND		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

990 / 990

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

330 / 330

position of stopcodon in wt / mu cDNA

1131 / 1131

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

142 / 142

chromosome

strand

-1

last intron/exon boundary

367

theoretical NMD boundary in CDS

175

length of CDS

990

coding sequence (CDS) position

442

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

583

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

63690

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

27679916

original gDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered gDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

altered cDNA sequence snippet

TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT

wildtype AA sequence

MCGATSFLHE CTRLILVTTQ NAEFLQKGLQ VHTCFGVYPH ASVWHDCASQ KKGCAVYLHV
SVEFNKLIPE NGFIKFHQVR RVMTILFLTM VISYFGCMKA APMKEANIRG QGGLAYPGVR
THGTLESVNG PKAGSRGLTS LADTFEHVIE ELLDEDQKVR PNEENNKDAD LYTSRVMLSS
QVPLEPPLLF LLEEYKNYLD AANMSMRVRR HSDPARRGEL SVCDSISEWV TAADKKTAVD
MSGGTVTVLE KVPVSKGQLK QYFYETKCNP MGYTKEGCRG IDKRHWNSQC RTTQSYVRAL
TMDSKKRIGW RFIRIDTSCV CTLTIKRGR*

mutated AA sequence

MCGATSFLHE CTRLILVTTQ NAEFLQKGLQ VHTCFGVYPH ASVWHDCASQ KKGCAVYLHV
SVEFNKLIPE NGFIKFHQVR RVMTILFLTM VISYFGCMKA APMKEANIRG QGGLAYPGVR
THGTLESVNG PKAGSRGLTS LADTFEHMIE ELLDEDQKVR PNEENNKDAD LYTSRVMLSS
QVPLEPPLLF LLEEYKNYLD AANMSMRVRR HSDPARRGEL SVCDSISEWV TAADKKTAVD
MSGGTVTVLE KVPVSKGQLK QYFYETKCNP MGYTKEGCRG IDKRHWNSQC RTTQSYVRAL
TMDSKKRIGW RFIRIDTSCV CTLTIKRGR*

speed

0.49 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

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