MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000248923
Querying Taster for transcript #2: ENST00000400382
Querying Taster for transcript #3: ENST00000400380
Querying Taster for transcript #4: ENST00000400383
Querying Taster for transcript #5: ENST00000406383
MT speed 0 s - this script 3.937881 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
GGT1	polymorphism_automatic	1.0991207943789e-14	simple_aae		affected		V272A	single base exchange	rs4049829		show file
GGT1	polymorphism_automatic	1.0991207943789e-14	simple_aae		affected		V272A	single base exchange	rs4049829		show file
GGT1	polymorphism_automatic	1.0991207943789e-14	simple_aae		affected		V272A	single base exchange	rs4049829		show file
GGT1	polymorphism_automatic	1.0991207943789e-14	simple_aae		affected		V272A	single base exchange	rs4049829		show file
GGT1	polymorphism_automatic	1.0991207943789e-14	simple_aae		affected		V272A	single base exchange	rs4049829		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999989 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:25019155T>CN/A show variant in all transcripts IGV

HGNC symbol

GGT1

Ensembl transcript ID

ENST00000248923

Genbank transcript ID

NM_013430

UniProt peptide

P19440

alteration type

single base exchange

alteration region

CDS

DNA changes

c.815T>C
cDNA.1302T>C
g.39438T>C

AA changes

V272A Score: 64 explain score(s)

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

272

frameshift

known variant

Reference ID: rs4049829

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	914	8851	9765

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.323	0.001
	-0.086	0
(flanking)	0.168	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	39433	wt: 0.50 / mu: 0.69	wt: CTGGGAGACGTGGTG mu: CTGGGAGACGCGGTG	GGGA\|gacg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

272

mutated

not conserved

272

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020999

193

Fcatus

not conserved

ENSFCAG00000001514

271

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000006565

271

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

not conserved

Y97E10AR.2

550

Xtropicalis

not conserved

ENSXETG00000004232

273

protein features

start (aa)	end (aa)	feature	details
27	569	TOPO_DOM	Extracellular (Potential).	lost
297	297	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
344	344	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
356	356	CONFLICT	A -> S (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
361	361	CONFLICT	D -> H (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
372	372	CONFLICT	E -> D (in Ref. 7; AAA02886).	might get lost (downstream of altered splice site)
383	383	MUTAGEN	H->A: Reduces enzyme activity by 66%.	might get lost (downstream of altered splice site)
385	385	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
413	413	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
422	422	MUTAGEN	D->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
423	423	MUTAGEN	D->A: Abolishes enzyme activity. Increases KM by over 1000-fold.	might get lost (downstream of altered splice site)
425	425	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
451	451	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452.	might get lost (downstream of altered splice site)
452	452	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-451.	might get lost (downstream of altered splice site)
454	454	MUTAGEN	C->A: No effect on activity.	might get lost (downstream of altered splice site)
505	505	MUTAGEN	H->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
511	511	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1710 / 1710

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

570 / 570

position of stopcodon in wt / mu cDNA

2197 / 2197

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

488 / 488

chromosome

strand

last intron/exon boundary

2051

theoretical NMD boundary in CDS

1513

length of CDS

1710

coding sequence (CDS) position

815

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

1302

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

39438

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

25019155

original gDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered gDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

original cDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered cDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

wildtype AA sequence

MKKKLVVLGL LAVVLVLVIV GLCLWLPSAS KEPDNHVYTR AAVAADAKQC SKIGRDALRD
GGSAVDAAIA ALLCVGLMNA HSMGIGGGLF LTIYNSTTRK AEVINAREVA PRLAFATMFN
SSEQSQKGGL SVAVPGEIRG YELAHQRHGR LPWARLFQPS IQLARQGFPV GKGLAAALEN
KRTVIEQQPV LCEVFCRDRK VLREGERLTL PQLADTYETL AIEGAQAFYN GSLTAQIVKD
IQAAGGIVTA EDLNNYRAEL IEHPLNISLG DVVLYMPSAP LSGPVLALIL NILKGYNFSR
ESVESPEQKG LTYHRIVEAF RFAYAKRTLL GDPKFVDVTE VVRNMTSEFF AAQLRAQISD
DTTHPISYYK PEFYTPDDGG TAHLSVVAED GSAVSATSTI NLYFGSKVRS PVSGILFNNE
MDDFSSPSIT NEFGVPPSPA NFIQPGKQPL SSMCPTIMVG QDGQVRMVVG AAGGTQITTA
TALAIIYNLW FGYDVKRAVE EPRLHNQLLP NVTTVERNID QAVTAALETR HHHTQIASTF
IAVVQAIVRT AGGWAAASDS RKGGEPAGY*

mutated AA sequence

MKKKLVVLGL LAVVLVLVIV GLCLWLPSAS KEPDNHVYTR AAVAADAKQC SKIGRDALRD
GGSAVDAAIA ALLCVGLMNA HSMGIGGGLF LTIYNSTTRK AEVINAREVA PRLAFATMFN
SSEQSQKGGL SVAVPGEIRG YELAHQRHGR LPWARLFQPS IQLARQGFPV GKGLAAALEN
KRTVIEQQPV LCEVFCRDRK VLREGERLTL PQLADTYETL AIEGAQAFYN GSLTAQIVKD
IQAAGGIVTA EDLNNYRAEL IEHPLNISLG DAVLYMPSAP LSGPVLALIL NILKGYNFSR
ESVESPEQKG LTYHRIVEAF RFAYAKRTLL GDPKFVDVTE VVRNMTSEFF AAQLRAQISD
DTTHPISYYK PEFYTPDDGG TAHLSVVAED GSAVSATSTI NLYFGSKVRS PVSGILFNNE
MDDFSSPSIT NEFGVPPSPA NFIQPGKQPL SSMCPTIMVG QDGQVRMVVG AAGGTQITTA
TALAIIYNLW FGYDVKRAVE EPRLHNQLLP NVTTVERNID QAVTAALETR HHHTQIASTF
IAVVQAIVRT AGGWAAASDS RKGGEPAGY*

speed

0.30 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999989 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:25019155T>CN/A show variant in all transcripts IGV

HGNC symbol

GGT1

Ensembl transcript ID

ENST00000400382

Genbank transcript ID

N/A

UniProt peptide

P19440

alteration type

single base exchange

alteration region

CDS

DNA changes

c.815T>C
cDNA.1570T>C
g.39438T>C

AA changes

V272A Score: 64 explain score(s)

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

272

frameshift

known variant

Reference ID: rs4049829

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	914	8851	9765

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.323	0.001
	-0.086	0
(flanking)	0.168	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	39433	wt: 0.50 / mu: 0.69	wt: CTGGGAGACGTGGTG mu: CTGGGAGACGCGGTG	GGGA\|gacg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

272

mutated

not conserved

272

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020999

193

Fcatus

not conserved

ENSFCAG00000001514

271

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000006565

271

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

not conserved

Y97E10AR.2

550

Xtropicalis

not conserved

ENSXETG00000004232

273

protein features

start (aa)	end (aa)	feature	details
27	569	TOPO_DOM	Extracellular (Potential).	lost
297	297	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
344	344	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
356	356	CONFLICT	A -> S (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
361	361	CONFLICT	D -> H (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
372	372	CONFLICT	E -> D (in Ref. 7; AAA02886).	might get lost (downstream of altered splice site)
383	383	MUTAGEN	H->A: Reduces enzyme activity by 66%.	might get lost (downstream of altered splice site)
385	385	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
413	413	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
422	422	MUTAGEN	D->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
423	423	MUTAGEN	D->A: Abolishes enzyme activity. Increases KM by over 1000-fold.	might get lost (downstream of altered splice site)
425	425	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
451	451	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452.	might get lost (downstream of altered splice site)
452	452	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-451.	might get lost (downstream of altered splice site)
454	454	MUTAGEN	C->A: No effect on activity.	might get lost (downstream of altered splice site)
505	505	MUTAGEN	H->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
511	511	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1710 / 1710

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

570 / 570

position of stopcodon in wt / mu cDNA

2465 / 2465

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

756 / 756

chromosome

strand

last intron/exon boundary

2319

theoretical NMD boundary in CDS

1513

length of CDS

1710

coding sequence (CDS) position

815

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

1570

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

39438

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

25019155

original gDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered gDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

original cDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered cDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

wildtype AA sequence

mutated AA sequence

MKKKLVVLGL LAVVLVLVIV GLCLWLPSAS KEPDNHVYTR AAVAADAKQC SKIGRDALRD
GGSAVDAAIA ALLCVGLMNA HSMGIGGGLF LTIYNSTTRK AEVINAREVA PRLAFATMFN
SSEQSQKGGL SVAVPGEIRG YELAHQRHGR LPWARLFQPS IQLARQGFPV GKGLAAALEN
KRTVIEQQPV LCEVFCRDRK VLREGERLTL PQLADTYETL AIEGAQAFYN GSLTAQIVKD
IQAAGGIVTA EDLNNYRAEL IEHPLNISLG DAVLYMPSAP LSGPVLALIL NILKGYNFSR
ESVESPEQKG LTYHRIVEAF RFAYAKRTLL GDPKFVDVTE VVRNMTSEFF AAQLRAQISD
DTTHPISYYK PEFYTPDDGG TAHLSVVAED GSAVSATSTI NLYFGSKVRS PVSGILFNNE
MDDFSSPSIT NEFGVPPSPA NFIQPGKQPL SSMCPTIMVG QDGQVRMVVG AAGGTQITTA
TALAIIYNLW FGYDVKRAVE EPRLHNQLLP NVTTVERNID QAVTAALETR HHHTQIASTF
IAVVQAIVRT AGGWAAASDS RKGGEPAGY*

speed

0.43 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999989 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:25019155T>CN/A show variant in all transcripts IGV

HGNC symbol

GGT1

Ensembl transcript ID

ENST00000400380

Genbank transcript ID

N/A

UniProt peptide

P19440

alteration type

single base exchange

alteration region

CDS

DNA changes

c.815T>C
cDNA.1483T>C
g.39438T>C

AA changes

V272A Score: 64 explain score(s)

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

272

frameshift

known variant

Reference ID: rs4049829

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	914	8851	9765

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.323	0.001
	-0.086	0
(flanking)	0.168	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	39433	wt: 0.50 / mu: 0.69	wt: CTGGGAGACGTGGTG mu: CTGGGAGACGCGGTG	GGGA\|gacg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

272

mutated

not conserved

272

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020999

193

Fcatus

not conserved

ENSFCAG00000001514

271

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000006565

271

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

not conserved

Y97E10AR.2

550

Xtropicalis

not conserved

ENSXETG00000004232

273

protein features

start (aa)	end (aa)	feature	details
27	569	TOPO_DOM	Extracellular (Potential).	lost
297	297	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
344	344	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
356	356	CONFLICT	A -> S (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
361	361	CONFLICT	D -> H (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
372	372	CONFLICT	E -> D (in Ref. 7; AAA02886).	might get lost (downstream of altered splice site)
383	383	MUTAGEN	H->A: Reduces enzyme activity by 66%.	might get lost (downstream of altered splice site)
385	385	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
413	413	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
422	422	MUTAGEN	D->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
423	423	MUTAGEN	D->A: Abolishes enzyme activity. Increases KM by over 1000-fold.	might get lost (downstream of altered splice site)
425	425	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
451	451	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452.	might get lost (downstream of altered splice site)
452	452	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-451.	might get lost (downstream of altered splice site)
454	454	MUTAGEN	C->A: No effect on activity.	might get lost (downstream of altered splice site)
505	505	MUTAGEN	H->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
511	511	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1710 / 1710

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

570 / 570

position of stopcodon in wt / mu cDNA

2378 / 2378

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

669 / 669

chromosome

strand

last intron/exon boundary

2232

theoretical NMD boundary in CDS

1513

length of CDS

1710

coding sequence (CDS) position

815

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

1483

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

39438

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

25019155

original gDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered gDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

original cDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered cDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

wildtype AA sequence

mutated AA sequence

MKKKLVVLGL LAVVLVLVIV GLCLWLPSAS KEPDNHVYTR AAVAADAKQC SKIGRDALRD
GGSAVDAAIA ALLCVGLMNA HSMGIGGGLF LTIYNSTTRK AEVINAREVA PRLAFATMFN
SSEQSQKGGL SVAVPGEIRG YELAHQRHGR LPWARLFQPS IQLARQGFPV GKGLAAALEN
KRTVIEQQPV LCEVFCRDRK VLREGERLTL PQLADTYETL AIEGAQAFYN GSLTAQIVKD
IQAAGGIVTA EDLNNYRAEL IEHPLNISLG DAVLYMPSAP LSGPVLALIL NILKGYNFSR
ESVESPEQKG LTYHRIVEAF RFAYAKRTLL GDPKFVDVTE VVRNMTSEFF AAQLRAQISD
DTTHPISYYK PEFYTPDDGG TAHLSVVAED GSAVSATSTI NLYFGSKVRS PVSGILFNNE
MDDFSSPSIT NEFGVPPSPA NFIQPGKQPL SSMCPTIMVG QDGQVRMVVG AAGGTQITTA
TALAIIYNLW FGYDVKRAVE EPRLHNQLLP NVTTVERNID QAVTAALETR HHHTQIASTF
IAVVQAIVRT AGGWAAASDS RKGGEPAGY*

speed

0.31 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999989 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:25019155T>CN/A show variant in all transcripts IGV

HGNC symbol

GGT1

Ensembl transcript ID

ENST00000400383

Genbank transcript ID

NM_005265

UniProt peptide

P19440

alteration type

single base exchange

alteration region

CDS

DNA changes

c.815T>C
cDNA.1352T>C
g.39438T>C

AA changes

V272A Score: 64 explain score(s)

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

272

frameshift

known variant

Reference ID: rs4049829

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	914	8851	9765

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.323	0.001
	-0.086	0
(flanking)	0.168	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	39433	wt: 0.50 / mu: 0.69	wt: CTGGGAGACGTGGTG mu: CTGGGAGACGCGGTG	GGGA\|gacg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

272

mutated

not conserved

272

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020999

193

Fcatus

not conserved

ENSFCAG00000001514

271

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000006565

271

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

not conserved

Y97E10AR.2

550

Xtropicalis

not conserved

ENSXETG00000004232

273

protein features

start (aa)	end (aa)	feature	details
27	569	TOPO_DOM	Extracellular (Potential).	lost
297	297	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
344	344	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
356	356	CONFLICT	A -> S (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
361	361	CONFLICT	D -> H (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
372	372	CONFLICT	E -> D (in Ref. 7; AAA02886).	might get lost (downstream of altered splice site)
383	383	MUTAGEN	H->A: Reduces enzyme activity by 66%.	might get lost (downstream of altered splice site)
385	385	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
413	413	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
422	422	MUTAGEN	D->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
423	423	MUTAGEN	D->A: Abolishes enzyme activity. Increases KM by over 1000-fold.	might get lost (downstream of altered splice site)
425	425	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
451	451	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452.	might get lost (downstream of altered splice site)
452	452	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-451.	might get lost (downstream of altered splice site)
454	454	MUTAGEN	C->A: No effect on activity.	might get lost (downstream of altered splice site)
505	505	MUTAGEN	H->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
511	511	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1710 / 1710

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

570 / 570

position of stopcodon in wt / mu cDNA

2247 / 2247

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

538 / 538

chromosome

strand

last intron/exon boundary

2101

theoretical NMD boundary in CDS

1513

length of CDS

1710

coding sequence (CDS) position

815

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

1352

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

39438

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

25019155

original gDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered gDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

original cDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered cDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

wildtype AA sequence

mutated AA sequence

MKKKLVVLGL LAVVLVLVIV GLCLWLPSAS KEPDNHVYTR AAVAADAKQC SKIGRDALRD
GGSAVDAAIA ALLCVGLMNA HSMGIGGGLF LTIYNSTTRK AEVINAREVA PRLAFATMFN
SSEQSQKGGL SVAVPGEIRG YELAHQRHGR LPWARLFQPS IQLARQGFPV GKGLAAALEN
KRTVIEQQPV LCEVFCRDRK VLREGERLTL PQLADTYETL AIEGAQAFYN GSLTAQIVKD
IQAAGGIVTA EDLNNYRAEL IEHPLNISLG DAVLYMPSAP LSGPVLALIL NILKGYNFSR
ESVESPEQKG LTYHRIVEAF RFAYAKRTLL GDPKFVDVTE VVRNMTSEFF AAQLRAQISD
DTTHPISYYK PEFYTPDDGG TAHLSVVAED GSAVSATSTI NLYFGSKVRS PVSGILFNNE
MDDFSSPSIT NEFGVPPSPA NFIQPGKQPL SSMCPTIMVG QDGQVRMVVG AAGGTQITTA
TALAIIYNLW FGYDVKRAVE EPRLHNQLLP NVTTVERNID QAVTAALETR HHHTQIASTF
IAVVQAIVRT AGGWAAASDS RKGGEPAGY*

speed

1.09 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999989 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:25019155T>CN/A show variant in all transcripts IGV

HGNC symbol

GGT1

Ensembl transcript ID

ENST00000406383

Genbank transcript ID

NM_001032365

UniProt peptide

P19440

alteration type

single base exchange

alteration region

CDS

DNA changes

c.815T>C
cDNA.1314T>C
g.39438T>C

AA changes

V272A Score: 64 explain score(s)

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

272

frameshift

known variant

Reference ID: rs4049829

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	914	8851	9765

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.323	0.001
	-0.086	0
(flanking)	0.168	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	39433	wt: 0.50 / mu: 0.69	wt: CTGGGAGACGTGGTG mu: CTGGGAGACGCGGTG	GGGA\|gacg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

272

mutated

not conserved

272

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020999

193

Fcatus

not conserved

ENSFCAG00000001514

271

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000006565

271

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

not conserved

Y97E10AR.2

550

Xtropicalis

not conserved

ENSXETG00000004232

273

protein features

start (aa)	end (aa)	feature	details
27	569	TOPO_DOM	Extracellular (Potential).	lost
297	297	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
344	344	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
356	356	CONFLICT	A -> S (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
361	361	CONFLICT	D -> H (in Ref. 10; AAI28240).	might get lost (downstream of altered splice site)
372	372	CONFLICT	E -> D (in Ref. 7; AAA02886).	might get lost (downstream of altered splice site)
383	383	MUTAGEN	H->A: Reduces enzyme activity by 66%.	might get lost (downstream of altered splice site)
385	385	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
413	413	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
422	422	MUTAGEN	D->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
423	423	MUTAGEN	D->A: Abolishes enzyme activity. Increases KM by over 1000-fold.	might get lost (downstream of altered splice site)
425	425	MUTAGEN	S->A: No effect on activity.	might get lost (downstream of altered splice site)
451	451	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452.	might get lost (downstream of altered splice site)
452	452	MUTAGEN	S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-451.	might get lost (downstream of altered splice site)
454	454	MUTAGEN	C->A: No effect on activity.	might get lost (downstream of altered splice site)
505	505	MUTAGEN	H->A: Reduces enzyme activity by 90%.	might get lost (downstream of altered splice site)
511	511	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1710 / 1710

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

570 / 570

position of stopcodon in wt / mu cDNA

2209 / 2209

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

500 / 500

chromosome

strand

last intron/exon boundary

2063

theoretical NMD boundary in CDS

1513

length of CDS

1710

coding sequence (CDS) position

815

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

1314

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

39438

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

25019155

original gDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered gDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

original cDNA sequence snippet

GAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTG

altered cDNA sequence snippet

GAACATCAGCCTGGGAGACGCGGTGCTGTACATGCCCAGTG

wildtype AA sequence

mutated AA sequence

MKKKLVVLGL LAVVLVLVIV GLCLWLPSAS KEPDNHVYTR AAVAADAKQC SKIGRDALRD
GGSAVDAAIA ALLCVGLMNA HSMGIGGGLF LTIYNSTTRK AEVINAREVA PRLAFATMFN
SSEQSQKGGL SVAVPGEIRG YELAHQRHGR LPWARLFQPS IQLARQGFPV GKGLAAALEN
KRTVIEQQPV LCEVFCRDRK VLREGERLTL PQLADTYETL AIEGAQAFYN GSLTAQIVKD
IQAAGGIVTA EDLNNYRAEL IEHPLNISLG DAVLYMPSAP LSGPVLALIL NILKGYNFSR
ESVESPEQKG LTYHRIVEAF RFAYAKRTLL GDPKFVDVTE VVRNMTSEFF AAQLRAQISD
DTTHPISYYK PEFYTPDDGG TAHLSVVAED GSAVSATSTI NLYFGSKVRS PVSGILFNNE
MDDFSSPSIT NEFGVPPSPA NFIQPGKQPL SSMCPTIMVG QDGQVRMVVG AAGGTQITTA
TALAIIYNLW FGYDVKRAVE EPRLHNQLLP NVTTVERNID QAVTAALETR HHHTQIASTF
IAVVQAIVRT AGGWAAASDS RKGGEPAGY*

speed

1.20 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems