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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000308078
Querying Taster for transcript #2: ENST00000451448
Querying Taster for transcript #3: ENST00000394359
Querying Taster for transcript #4: ENST00000455054
Querying Taster for transcript #5: ENST00000535446
Querying Taster for transcript #6: ENST00000400684
Querying Taster for transcript #7: ENST00000330458
Querying Taster for transcript #8: ENST00000535592
Querying Taster for transcript #9: ENST00000535805
MT speed 0 s - this script 6.102915 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TBC1D3H	polymorphism	0	simple_aae		affected		Q27R	single base exchange			show file
TBC1D3H	polymorphism	0	simple_aae		affected		Q27R	single base exchange			show file
TBC1D3C	polymorphism	1.16409915040805e-07	without_aae		affected			single base exchange			show file
TBC1D3C	polymorphism	1.16409915040805e-07	without_aae		affected			single base exchange			show file
TBC1D3G	polymorphism	1.16409915040805e-07	without_aae		affected			single base exchange			show file
TBC1D3H	polymorphism	1.16409915040805e-07	without_aae		affected			single base exchange			show file
TBC1D3G	polymorphism	1.16409915040805e-07	without_aae		affected			single base exchange			show file
TBC1D3G	polymorphism	1.16409915040805e-07	without_aae		affected			single base exchange			show file
TBC1D3H	polymorphism	1.98248870597606e-06	without_aae		affected			single base exchange			show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (explain)

Summary

amino acid sequence changed
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34755224T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3H

Ensembl transcript ID

ENST00000394359

Genbank transcript ID

N/A

UniProt peptide

P0C7X1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.80A>G
cDNA.834A>G
g.52838A>G

AA changes

Q27R Score: 43 explain score(s)

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

frameshift

known variant

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.357	0.002
	-1.528	0.007
(flanking)	0.536	0.015

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	52830	wt: 0.50 / mu: 0.67	wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC	acag\|GGAC
Donor marginally increased	52829	wt: 0.9198 / mu: 0.9388 (marginal change - not scored)	wt: GCTACAGGGACACCA mu: GCTACAGGGACACCG	TACA\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000008885

Mmulatta

all conserved

ENSMMUG00000018593

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000011088

Dmelanogaster

not conserved

FBgn0020620

Celegans

not conserved

Y46G5A.1

503

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
101	293	DOMAIN	Rab-GAP TBC.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1584 / 1584

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

528 / 528

position of stopcodon in wt / mu cDNA

2338 / 2338

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

755 / 755

chromosome

strand

-1

last intron/exon boundary

1770

theoretical NMD boundary in CDS

965

length of CDS

1584

coding sequence (CDS) position

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

834

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

52838

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

34755224

original gDNA sequence snippet

CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered gDNA sequence snippet

CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA

original cDNA sequence snippet

GAAATACGAAAAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered cDNA sequence snippet

GAAATACGAAAAGGGACACCGAGCTGGGCTGCCAGAGGACA

wildtype AA sequence

MDVVEVAGSW WAQEREDIIM KYEKGHQAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQPKT MGHQISLGLT LRLWDVYLVE GEQALMPITR IAFKVQQKRL TKTSRCGPWA
RFCNRFVDTW ARDEDTVLKH LRASMKKLTR KQGDLPPPAK PEQGSSASRP VPASRGGKTL
CKGDRQAPPG PPARFPRPIW SASPPRAPRS STPCPGGAVR EDTYPVGTQG VPSPALAQGG
PQGSWRFLQW NSMPRLPTDL DVEGPWFRHY DFRQSCWVRA ISQEDQLAPC WQAEHPAERV
RSAFAAPSTD SDQGTPFRAR DEQQCAPTSG PCLCGLHLES SQFPPGF*

mutated AA sequence

MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQPKT MGHQISLGLT LRLWDVYLVE GEQALMPITR IAFKVQQKRL TKTSRCGPWA
RFCNRFVDTW ARDEDTVLKH LRASMKKLTR KQGDLPPPAK PEQGSSASRP VPASRGGKTL
CKGDRQAPPG PPARFPRPIW SASPPRAPRS STPCPGGAVR EDTYPVGTQG VPSPALAQGG
PQGSWRFLQW NSMPRLPTDL DVEGPWFRHY DFRQSCWVRA ISQEDQLAPC WQAEHPAERV
RSAFAAPSTD SDQGTPFRAR DEQQCAPTSG PCLCGLHLES SQFPPGF*

speed

0.88 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: 1 (explain)

Summary

amino acid sequence changed
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34755224T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3H

Ensembl transcript ID

ENST00000455054

Genbank transcript ID

NM_001123392

UniProt peptide

P0C7X1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.80A>G
cDNA.226A>G
g.52838A>G

AA changes

Q27R Score: 43 explain score(s)

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

frameshift

known variant

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.357	0.002
	-1.528	0.007
(flanking)	0.536	0.015

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	52830	wt: 0.50 / mu: 0.67	wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC	acag\|GGAC
Donor marginally increased	52829	wt: 0.9198 / mu: 0.9388 (marginal change - not scored)	wt: GCTACAGGGACACCA mu: GCTACAGGGACACCG	TACA\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000008885

Mmulatta

all conserved

ENSMMUG00000018593

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000011088

Dmelanogaster

not conserved

FBgn0020620

Celegans

not conserved

Y46G5A.1

503

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
101	293	DOMAIN	Rab-GAP TBC.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1650 / 1650

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

550 / 550

position of stopcodon in wt / mu cDNA

1796 / 1796

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

147 / 147

chromosome

strand

-1

last intron/exon boundary

1228

theoretical NMD boundary in CDS

1031

length of CDS

1650

coding sequence (CDS) position

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

226

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

52838

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

34755224

original gDNA sequence snippet

CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered gDNA sequence snippet

CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA

original cDNA sequence snippet

GAAATACGAAAAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered cDNA sequence snippet

GAAATACGAAAAGGGACACCGAGCTGGGCTGCCAGAGGACA

wildtype AA sequence

MDVVEVAGSW WAQEREDIIM KYEKGHQAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQPKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF*

mutated AA sequence

MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQPKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF*

speed

0.93 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999883590085 (explain)

Summary

protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34755224T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3C

Ensembl transcript ID

ENST00000308078

Genbank transcript ID

NM_001123391

UniProt peptide

Q6IPX1

alteration type

single base exchange

alteration region

intron

DNA changes

g.1827A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.357	0.002
	-1.528	0.007
(flanking)	0.536	0.015

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	1819	wt: 0.50 / mu: 0.67	wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC	acag\|GGAC
Donor marginally increased	1818	wt: 0.9198 / mu: 0.9388 (marginal change - not scored)	wt: GCTACAGGGACACCA mu: GCTACAGGGACACCG	TACA\|ggga

distance from splice site

170

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
101	293	DOMAIN	Rab-GAP TBC.	might get lost (downstream of altered splice site)
248	248	CONFLICT	S -> P (in Ref. 2; AAH71680).	might get lost (downstream of altered splice site)
396	396	CONFLICT	W -> R (in Ref. 2; AAH71680).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

158 / 158

chromosome

strand

-1

last intron/exon boundary

1239

theoretical NMD boundary in CDS

1031

length of CDS

1650

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)

1827

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

34755224

original gDNA sequence snippet

CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered gDNA sequence snippet

CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQSKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPAWFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF*

mutated AA sequence

N/A

speed

0.71 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999883590085 (explain)

Summary

protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34755224T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3C

Ensembl transcript ID

ENST00000451448

Genbank transcript ID

N/A

UniProt peptide

Q6IPX1

alteration type

single base exchange

alteration region

intron

DNA changes

g.1827A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.357	0.002
	-1.528	0.007
(flanking)	0.536	0.015

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	1819	wt: 0.50 / mu: 0.67	wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC	acag\|GGAC
Donor marginally increased	1818	wt: 0.9198 / mu: 0.9388 (marginal change - not scored)	wt: GCTACAGGGACACCA mu: GCTACAGGGACACCG	TACA\|ggga

distance from splice site

170

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
101	293	DOMAIN	Rab-GAP TBC.	might get lost (downstream of altered splice site)
248	248	CONFLICT	S -> P (in Ref. 2; AAH71680).	might get lost (downstream of altered splice site)
396	396	CONFLICT	W -> R (in Ref. 2; AAH71680).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

755 / 755

chromosome

strand

-1

last intron/exon boundary

1770

theoretical NMD boundary in CDS

965

length of CDS

1584

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)

1827

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

34755224

original gDNA sequence snippet

CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered gDNA sequence snippet

CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQSKT MGHQISLGLT LRLWDVYLVE GEQALMPITR IAFKVQQKRL TKTSRCGPWA
RFCNRFVDTW ARDEDTVLKH LRASMKKLTR KQGDLPPPAK PEQGSSASRP VPASRGGKTL
CKGDRQAPPG PPAWFPRPIW SASPPRAPRS STPCPGGAVR EDTYPVGTQG VPSPALAQGG
PQGSWRFLQW NSMPRLPTDL DVEGPWFRHY DFRQSCWVRA ISQEDQLAPC WQAEHPAERV
RSAFAAPSTD SDQGTPFRAR DEQQCAPTSG PCLCGLHLES SQFPPGF*

mutated AA sequence

N/A

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999883590085 (explain)

Summary

protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34755224T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3G

Ensembl transcript ID

ENST00000330458

Genbank transcript ID

N/A

UniProt peptide

Q6DHY5

alteration type

single base exchange

alteration region

intron

DNA changes

g.52881A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.357	0.002
	-1.528	0.007
(flanking)	0.536	0.015

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	52873	wt: 0.50 / mu: 0.67	wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC	acag\|GGAC
Donor marginally increased	52872	wt: 0.9198 / mu: 0.9388 (marginal change - not scored)	wt: GCTACAGGGACACCA mu: GCTACAGGGACACCG	TACA\|ggga

distance from splice site

8222

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
510	510	CONFLICT	S -> G (in Ref. 1; BAF85033 and 3; AAH75809).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

158 / 158

chromosome

strand

-1

last intron/exon boundary

1239

theoretical NMD boundary in CDS

1031

length of CDS

1650

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)

52881

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

34755224

original gDNA sequence snippet

CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered gDNA sequence snippet

CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQPKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF*

mutated AA sequence

N/A

speed

0.65 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999883590085 (explain)

Summary

protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34755224T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3H

Ensembl transcript ID

ENST00000535446

Genbank transcript ID

N/A

UniProt peptide

P0C7X1

alteration type

single base exchange

alteration region

intron

DNA changes

g.52838A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.357	0.002
	-1.528	0.007
(flanking)	0.536	0.015

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	52830	wt: 0.50 / mu: 0.67	wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC	acag\|GGAC
Donor marginally increased	52829	wt: 0.9198 / mu: 0.9388 (marginal change - not scored)	wt: GCTACAGGGACACCA mu: GCTACAGGGACACCG	TACA\|ggga

distance from splice site

2844

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
101	293	DOMAIN	Rab-GAP TBC.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

1666 / 1666

chromosome

strand

-1

last intron/exon boundary

2507

theoretical NMD boundary in CDS

791

length of CDS

1410

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)

52838

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

34755224

original gDNA sequence snippet

CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered gDNA sequence snippet

CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM KLKNPGRYQI MKEKGKRSSE
HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY NPEVGYCRDL SHIAALFLLY
LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE HVVATSQPKT MGHQDKKDLC
GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI TRIAFKVQQK RLTKTSRCGP
WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP AKPEQGSSAS RPVPASRGGK
TLCKGDRQAP PGPPAWFPRP IWSASPPRAP RSSTPCPGGA VREDTYPVGT QGVPSPALAQ
GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV RAISQEDQLA PCWQAEHPAE
RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL ESSQFPPGF*

mutated AA sequence

N/A

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999883590085 (explain)

Summary

protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34755224T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3G

Ensembl transcript ID

ENST00000535592

Genbank transcript ID

N/A

UniProt peptide

Q6DHY5

alteration type

single base exchange

alteration region

intron

DNA changes

g.52881A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.357	0.002
	-1.528	0.007
(flanking)	0.536	0.015

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	52873	wt: 0.50 / mu: 0.67	wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC	acag\|GGAC
Donor marginally increased	52872	wt: 0.9198 / mu: 0.9388 (marginal change - not scored)	wt: GCTACAGGGACACCA mu: GCTACAGGGACACCG	TACA\|ggga

distance from splice site

8222

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
510	510	CONFLICT	S -> G (in Ref. 1; BAF85033 and 3; AAH75809).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

755 / 755

chromosome

strand

-1

last intron/exon boundary

1770

theoretical NMD boundary in CDS

965

length of CDS

1584

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)

52881

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

34755224

original gDNA sequence snippet

CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered gDNA sequence snippet

CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999883590085 (explain)

Summary

protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34755224T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3G

Ensembl transcript ID

ENST00000535805

Genbank transcript ID

N/A

UniProt peptide

Q6DHY5

alteration type

single base exchange

alteration region

intron

DNA changes

g.52881A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.357	0.002
	-1.528	0.007
(flanking)	0.536	0.015

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	52873	wt: 0.50 / mu: 0.67	wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC	acag\|GGAC
Donor marginally increased	52872	wt: 0.9198 / mu: 0.9388 (marginal change - not scored)	wt: GCTACAGGGACACCA mu: GCTACAGGGACACCG	TACA\|ggga

distance from splice site

8222

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
101	293	DOMAIN	Rab-GAP TBC.	might get lost (downstream of altered splice site)
336	336	CONFLICT	E -> D (in Ref. 1; BAF85033 and 3; AAH75809).	might get lost (downstream of altered splice site)
510	510	CONFLICT	S -> G (in Ref. 1; BAF85033 and 3; AAH75809).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

1666 / 1666

chromosome

strand

-1

last intron/exon boundary

2507

theoretical NMD boundary in CDS

791

length of CDS

1410

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)

52881

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

34755224

original gDNA sequence snippet

CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered gDNA sequence snippet

CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM KLKNPGRYQI MKEKGKRSSE
HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY NPEVGYCRDL SHIAALFLLY
LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE HVVATSQPKT MGHQDKKDLC
GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI TRIAFKVQQK RLTKTSRCGP
WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP AKPEQGSSAS RPVPASRGGK
TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA VREDTYPVGT QGVPSPALAQ
GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV RAISQEDQLA PCWQAEHPAE
RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL ESSQFPPGF*

mutated AA sequence

N/A

speed

0.79 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999998017511294 (explain)

Summary

protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:34755224T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D3H

Ensembl transcript ID

ENST00000400684

Genbank transcript ID

N/A

UniProt peptide

P0C7X1

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.195A>G
g.52838A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.357	0.002
	-1.528	0.007
(flanking)	0.536	0.015

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

splice sites

splice site change before start ATG (at aa -129) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	52830	wt: 0.50 / mu: 0.67	wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC	acag\|GGAC
Donor marginally increased	52829	wt: 0.9198 / mu: 0.9388 (marginal change - not scored)	wt: GCTACAGGGACACCA mu: GCTACAGGGACACCG	TACA\|ggga

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
101	293	DOMAIN	Rab-GAP TBC.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

579 / 579

chromosome

strand

-1

last intron/exon boundary

1420

theoretical NMD boundary in CDS

791

length of CDS

1410

coding sequence (CDS) position

N/A

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

195

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

52838

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

34755224

original gDNA sequence snippet

CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered gDNA sequence snippet

CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA

original cDNA sequence snippet

GAAATACGAAAAGGGACACCAAGCTGGGCTGCCAGAGGACA

altered cDNA sequence snippet

GAAATACGAAAAGGGACACCGAGCTGGGCTGCCAGAGGACA

wildtype AA sequence

mutated AA sequence

N/A

speed

0.80 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems