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: ENST00000454498
Querying Taster for transcript #2: ENST00000332246
Querying Taster for transcript #3: ENST00000522854
Querying Taster for transcript #4: ENST00000311540
Querying Taster for transcript #5: ENST00000544602
MT speed 0 s - this script 4.076848 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CSGALNACT1	polymorphism_automatic	7.81259120952171e-07	simple_aae				S193N	single base exchange	rs7017776		show file
CSGALNACT1	polymorphism_automatic	7.81259120952171e-07	simple_aae				S193N	single base exchange	rs7017776		show file
CSGALNACT1	polymorphism_automatic	7.81259120952171e-07	simple_aae				S193N	single base exchange	rs7017776		show file
CSGALNACT1	polymorphism_automatic	7.81259120952171e-07	simple_aae				S193N	single base exchange	rs7017776		show file
CSGALNACT1	polymorphism_automatic	7.81259120952171e-07	simple_aae				S193N	single base exchange	rs7017776		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999218740879 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:19362768C>TN/A show variant in all transcripts IGV

HGNC symbol

CSGALNACT1

Ensembl transcript ID

ENST00000454498

Genbank transcript ID

NM_001130518

UniProt peptide

Q8TDX6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.578G>A
cDNA.1592G>A
g.252773G>A

AA changes

S193N Score: 46 explain score(s)

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

193

frameshift

known variant

Reference ID: rs7017776

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1452	876	2328
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.031	0.197
	-0.134	0.187
(flanking)	0.448	0.459

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	252777	wt: 0.9920 / mu: 0.9939 (marginal change - not scored)	wt: AGTCCTGCAGAGAAC mu: AATCCTGCAGAGAAC	TCCT\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

193

mutated

all conserved

193

Ptroglodytes

all identical

ENSPTRG00000020035

193

Mmulatta

all conserved

ENSMMUG00000000130

193

Fcatus

not conserved

ENSFCAG00000013402

193

Mmusculus

all identical

ENSMUSG00000036356

191

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000014511

208

TLSSQQDGKN

Drerio

all conserved

ENSDARG00000040535

238

PNHG

Dmelanogaster

all identical

FBgn0033500

186

NRNHSARIRAKGAG

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004463

193

protein features

start (aa)	end (aa)	feature	details
36	532	TOPO_DOM	Lumenal (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

position of stopcodon in wt / mu cDNA

2613 / 2613

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

1015 / 1015

chromosome

strand

-1

last intron/exon boundary

2324

theoretical NMD boundary in CDS

1259

length of CDS

1599

coding sequence (CDS) position

578

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

1592

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

252773

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

19362768

original gDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered gDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

original cDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered cDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

wildtype AA sequence

MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV
LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL
LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL
VEAIESALET LNSPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI
LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD
IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD
FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR
CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT*

mutated AA sequence

MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV
LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL
LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL
VEAIESALET LNNPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI
LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD
IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD
FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR
CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT*

speed

0.67 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: 0.999999218740879 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:19362768C>TN/A show variant in all transcripts IGV

HGNC symbol

CSGALNACT1

Ensembl transcript ID

ENST00000522854

Genbank transcript ID

N/A

UniProt peptide

Q8TDX6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.578G>A
cDNA.969G>A
g.252773G>A

AA changes

S193N Score: 46 explain score(s)

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

193

frameshift

known variant

Reference ID: rs7017776

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1452	876	2328
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.031	0.197
	-0.134	0.187
(flanking)	0.448	0.459

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	252777	wt: 0.9920 / mu: 0.9939 (marginal change - not scored)	wt: AGTCCTGCAGAGAAC mu: AATCCTGCAGAGAAC	TCCT\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

193

mutated

all conserved

193

Ptroglodytes

all identical

ENSPTRG00000020035

193

Mmulatta

all conserved

ENSMMUG00000000130

193

Fcatus

not conserved

ENSFCAG00000013402

193

Mmusculus

all identical

ENSMUSG00000036356

191

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000014511

208

TLSSQQDGKN

Drerio

all conserved

ENSDARG00000040535

238

PNHG

Dmelanogaster

all identical

FBgn0033500

186

NRNHSARIRAKGAG

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004463

193

protein features

start (aa)	end (aa)	feature	details
36	532	TOPO_DOM	Lumenal (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

position of stopcodon in wt / mu cDNA

1990 / 1990

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

392 / 392

chromosome

strand

-1

last intron/exon boundary

1701

theoretical NMD boundary in CDS

1259

length of CDS

1599

coding sequence (CDS) position

578

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

969

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

252773

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

19362768

original gDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered gDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

original cDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered cDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

wildtype AA sequence

mutated AA sequence

MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV
LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL
LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL
VEAIESALET LNNPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI
LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD
IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD
FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR
CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT*

speed

0.62 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999218740879 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:19362768C>TN/A show variant in all transcripts IGV

HGNC symbol

CSGALNACT1

Ensembl transcript ID

ENST00000332246

Genbank transcript ID

NM_018371

UniProt peptide

Q8TDX6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.578G>A
cDNA.1232G>A
g.252773G>A

AA changes

S193N Score: 46 explain score(s)

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

193

frameshift

known variant

Reference ID: rs7017776

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1452	876	2328
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.031	0.197
	-0.134	0.187
(flanking)	0.448	0.459

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	252777	wt: 0.9920 / mu: 0.9939 (marginal change - not scored)	wt: AGTCCTGCAGAGAAC mu: AATCCTGCAGAGAAC	TCCT\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

193

mutated

all conserved

193

Ptroglodytes

all identical

ENSPTRG00000020035

193

Mmulatta

all conserved

ENSMMUG00000000130

193

Fcatus

not conserved

ENSFCAG00000013402

193

Mmusculus

all identical

ENSMUSG00000036356

191

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000014511

208

TLSSQQDGKN

Drerio

all conserved

ENSDARG00000040535

238

PNHG

Dmelanogaster

all identical

FBgn0033500

186

NRNHSARIRAKGAG

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004463

193

protein features

start (aa)	end (aa)	feature	details
36	532	TOPO_DOM	Lumenal (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

position of stopcodon in wt / mu cDNA

2253 / 2253

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

655 / 655

chromosome

strand

-1

last intron/exon boundary

1964

theoretical NMD boundary in CDS

1259

length of CDS

1599

coding sequence (CDS) position

578

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

1232

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

252773

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

19362768

original gDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered gDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

original cDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered cDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

wildtype AA sequence

mutated AA sequence

MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV
LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL
LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL
VEAIESALET LNNPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI
LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD
IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD
FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR
CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT*

speed

0.70 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999218740879 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:19362768C>TN/A show variant in all transcripts IGV

HGNC symbol

CSGALNACT1

Ensembl transcript ID

ENST00000311540

Genbank transcript ID

N/A

UniProt peptide

Q8TDX6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.578G>A
cDNA.1035G>A
g.252773G>A

AA changes

S193N Score: 46 explain score(s)

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

193

frameshift

known variant

Reference ID: rs7017776

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1452	876	2328
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.031	0.197
	-0.134	0.187
(flanking)	0.448	0.459

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	252777	wt: 0.9920 / mu: 0.9939 (marginal change - not scored)	wt: AGTCCTGCAGAGAAC mu: AATCCTGCAGAGAAC	TCCT\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

193

mutated

all conserved

193

Ptroglodytes

all identical

ENSPTRG00000020035

193

Mmulatta

all conserved

ENSMMUG00000000130

193

Fcatus

not conserved

ENSFCAG00000013402

193

Mmusculus

all identical

ENSMUSG00000036356

191

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000014511

208

TLSSQQDGKN

Drerio

all conserved

ENSDARG00000040535

238

PNHG

Dmelanogaster

all identical

FBgn0033500

186

NRNHSARIRAKGAG

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004463

193

protein features

start (aa)	end (aa)	feature	details
36	532	TOPO_DOM	Lumenal (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

position of stopcodon in wt / mu cDNA

2056 / 2056

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

458 / 458

chromosome

strand

-1

last intron/exon boundary

1767

theoretical NMD boundary in CDS

1259

length of CDS

1599

coding sequence (CDS) position

578

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

1035

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

252773

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

19362768

original gDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered gDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

original cDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered cDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

wildtype AA sequence

mutated AA sequence

MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV
LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL
LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL
VEAIESALET LNNPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI
LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD
IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD
FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR
CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT*

speed

0.17 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999218740879 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:19362768C>TN/A show variant in all transcripts IGV

HGNC symbol

CSGALNACT1

Ensembl transcript ID

ENST00000544602

Genbank transcript ID

N/A

UniProt peptide

Q8TDX6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.578G>A
cDNA.991G>A
g.252773G>A

AA changes

S193N Score: 46 explain score(s)

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

193

frameshift

known variant

Reference ID: rs7017776

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1452	876	2328
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.031	0.197
	-0.134	0.187
(flanking)	0.448	0.459

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	252777	wt: 0.9920 / mu: 0.9939 (marginal change - not scored)	wt: AGTCCTGCAGAGAAC mu: AATCCTGCAGAGAAC	TCCT\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

193

mutated

all conserved

193

Ptroglodytes

all identical

ENSPTRG00000020035

193

Mmulatta

all conserved

ENSMMUG00000000130

193

Fcatus

not conserved

ENSFCAG00000013402

193

Mmusculus

all identical

ENSMUSG00000036356

191

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000014511

208

TLSSQQDGKN

Drerio

all conserved

ENSDARG00000040535

238

PNHG

Dmelanogaster

all identical

FBgn0033500

186

NRNHSARIRAKGAG

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004463

193

protein features

start (aa)	end (aa)	feature	details
36	532	TOPO_DOM	Lumenal (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

position of stopcodon in wt / mu cDNA

2012 / 2012

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

414 / 414

chromosome

strand

-1

last intron/exon boundary

1723

theoretical NMD boundary in CDS

1259

length of CDS

1599

coding sequence (CDS) position

578

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

991

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

252773

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

19362768

original gDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered gDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

original cDNA sequence snippet

AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA

altered cDNA sequence snippet

AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA

wildtype AA sequence

mutated AA sequence

MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV
LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL
LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL
VEAIESALET LNNPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI
LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD
IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD
FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR
CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT*

speed

0.60 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