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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000524325
Querying Taster for transcript #2: ENST00000520166
Querying Taster for transcript #3: ENST00000519651
Querying Taster for transcript #4: ENST00000307180
MT speed 0 s - this script 3.68765 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TSNARE1	polymorphism_automatic	1.01696429055664e-12	simple_aae				F18L	single base exchange	rs7814359		show file
TSNARE1	polymorphism_automatic	1.09959819027949e-11	simple_aae				F18L	single base exchange	rs7814359		show file
TSNARE1	polymorphism_automatic	1.09959819027949e-11	simple_aae				F18L	single base exchange	rs7814359		show file
TSNARE1	polymorphism_automatic	1.09959819027949e-11	simple_aae				F18L	single base exchange	rs7814359		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998983 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:143436034A>GN/A show variant in all transcripts IGV

HGNC symbol

TSNARE1

Ensembl transcript ID

ENST00000519651

Genbank transcript ID

N/A

UniProt peptide

Q96NA8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.52T>C
cDNA.156T>C
g.48568T>C

AA changes

F18L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7814359

database	homozygous (G/G)	heterozygous	allele carriers
1000G	413	956	1369
ExAC	4258	20562	24820

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.245	0.008
	0.777	0.012
(flanking)	0.227	0.013

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 marginally increased	48572	wt: 0.4764 / mu: 0.5030 (marginal change - not scored)	wt: GGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAAGGCT mu: GGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAAGGCT	tcgg\|GGGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no alignment

ENSPTRG00000020633

n/a

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000010752

n/a

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0036341

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

834 / 834

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

278 / 278

position of stopcodon in wt / mu cDNA

938 / 938

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

894

theoretical NMD boundary in CDS

739

length of CDS

834

coding sequence (CDS) position

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

156

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

48568

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

143436034

original gDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA

altered gDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA

original cDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA

altered cDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA

wildtype AA sequence

MSYGSIARGG GLGSRGPFGG PSRQGCQPLA TQVDPCNLQE LFQEMSANVF RINSSVTSLE
RSLQSLGTPS DTQELRDSLH TAQQETNKTI AASASSVKQM AELLRSSCPE RLQQERPQLD
RLKTQLSDAI QCYGVVQKKI AEKSRALLPM AQRGSKQQSP QAPFAELADD EKVFNGSDNM
WQGQEQALLP DITEEDLEAI RLREEAILQM ESNLLDVNQI IKDLASMVSE QGEAVDSIEA
SLEAASSHAE AARQLLAGAS RHQLMRRTRP PAACGCP*

mutated AA sequence

MSYGSIARGG GLGSRGPLGG PSRQGCQPLA TQVDPCNLQE LFQEMSANVF RINSSVTSLE
RSLQSLGTPS DTQELRDSLH TAQQETNKTI AASASSVKQM AELLRSSCPE RLQQERPQLD
RLKTQLSDAI QCYGVVQKKI AEKSRALLPM AQRGSKQQSP QAPFAELADD EKVFNGSDNM
WQGQEQALLP DITEEDLEAI RLREEAILQM ESNLLDVNQI IKDLASMVSE QGEAVDSIEA
SLEAASSHAE AARQLLAGAS RHQLMRRTRP PAACGCP*

speed

0.59 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: 0.999999999989004 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:143436034A>GN/A show variant in all transcripts IGV

HGNC symbol

TSNARE1

Ensembl transcript ID

ENST00000524325

Genbank transcript ID

N/A

UniProt peptide

Q96NA8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.52T>C
cDNA.228T>C
g.48568T>C

AA changes

F18L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7814359

database	homozygous (G/G)	heterozygous	allele carriers
1000G	413	956	1369
ExAC	4258	20562	24820

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.245	0.008
	0.777	0.012
(flanking)	0.227	0.013

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 marginally increased	48572	wt: 0.4764 / mu: 0.5030 (marginal change - not scored)	wt: GGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAAGGCT mu: GGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAAGGCT	tcgg\|GGGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000020633

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000010752

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0036341

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1539 / 1539

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

513 / 513

position of stopcodon in wt / mu cDNA

1715 / 1715

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

177 / 177

chromosome

strand

-1

last intron/exon boundary

1727

theoretical NMD boundary in CDS

1500

length of CDS

1539

coding sequence (CDS) position

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

228

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

48568

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

143436034

original gDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA

altered gDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA

original cDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA

altered cDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA

wildtype AA sequence

MSYGSIARGG GLGSRGPFGG PSRQGCQPLE CARCWTEYGI RHFPCPSPES KLQNRCVGKD
GEGDLGPAGT PIVPRARKRG PGVAPEGSRM PEPTSSPTIG PRKDSAAGPH GRMAGPSTTR
AKKRKPNFCP QETEVLVSKV SKHHQLLFGT GLLKAEPTRR YRVWSRILQA VNALGYCRRD
VVDLKHKWRD LRAVVRRKLG DLRKAAHGPS PGSGKPQALA LTPVEQVVAK TFSCQALPSE
GFSLEPPRAT QVDPCNLQEL FQEMSANVFR INSSVTSLER SLQSLGTPSD TQELRDSLHT
AQQETNKTIA ASASSVKQMA ELLRSSCPER LQQERPQLDR LKTQLSDAIQ CYGVVQKKIA
EKSRALLPMA QRGSKQSPQA PFAELADDEK VFNGSDNMWQ GQEQALLPDI TEEDLEAIRL
REEAILQMES NLLDVNQIIK DLASMVSEQG EAVDSIEASL EAASSHAEAA RQLLAGASRH
QLQRHKIKCC FLSAGVTALL VIIIIIATSV RK*

mutated AA sequence

MSYGSIARGG GLGSRGPLGG PSRQGCQPLE CARCWTEYGI RHFPCPSPES KLQNRCVGKD
GEGDLGPAGT PIVPRARKRG PGVAPEGSRM PEPTSSPTIG PRKDSAAGPH GRMAGPSTTR
AKKRKPNFCP QETEVLVSKV SKHHQLLFGT GLLKAEPTRR YRVWSRILQA VNALGYCRRD
VVDLKHKWRD LRAVVRRKLG DLRKAAHGPS PGSGKPQALA LTPVEQVVAK TFSCQALPSE
GFSLEPPRAT QVDPCNLQEL FQEMSANVFR INSSVTSLER SLQSLGTPSD TQELRDSLHT
AQQETNKTIA ASASSVKQMA ELLRSSCPER LQQERPQLDR LKTQLSDAIQ CYGVVQKKIA
EKSRALLPMA QRGSKQSPQA PFAELADDEK VFNGSDNMWQ GQEQALLPDI TEEDLEAIRL
REEAILQMES NLLDVNQIIK DLASMVSEQG EAVDSIEASL EAASSHAEAA RQLLAGASRH
QLQRHKIKCC FLSAGVTALL VIIIIIATSV RK*

speed

0.56 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999989004 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:143436034A>GN/A show variant in all transcripts IGV

HGNC symbol

TSNARE1

Ensembl transcript ID

ENST00000520166

Genbank transcript ID

N/A

UniProt peptide

Q96NA8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.52T>C
cDNA.91T>C
g.48568T>C

AA changes

F18L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7814359

database	homozygous (G/G)	heterozygous	allele carriers
1000G	413	956	1369
ExAC	4258	20562	24820

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.245	0.008
	0.777	0.012
(flanking)	0.227	0.013

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 marginally increased	48572	wt: 0.4764 / mu: 0.5030 (marginal change - not scored)	wt: GGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAAGGCT mu: GGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAAGGCT	tcgg\|GGGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000020633

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000010752

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0036341

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1542 / 1542

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

514 / 514

position of stopcodon in wt / mu cDNA

1581 / 1581

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

40 / 40

chromosome

strand

-1

last intron/exon boundary

1593

theoretical NMD boundary in CDS

1503

length of CDS

1542

coding sequence (CDS) position

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

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

48568

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

143436034

original gDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA

altered gDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA

original cDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA

altered cDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA

wildtype AA sequence

MSYGSIARGG GLGSRGPFGG PSRQGCQPLE CARCWTEYGI RHFPCPSPES KLQNRCVGKD
GEGDLGPAGT PIVPRARKRG PGVAPEGSRM PEPTSSPTIG PRKDSAAGPH GRMAGPSTTR
AKKRKPNFCP QETEVLVSKV SKHHQLLFGT GLLKAEPTRR YRVWSRILQA VNALGYCRRD
VVDLKHKWRD LRAVVRRKLG DLRKAAHGPS PGSGKPQALA LTPVEQVVAK TFSCQALPSE
GFSLEPPRAT QVDPCNLQEL FQEMSANVFR INSSVTSLER SLQSLGTPSD TQELRDSLHT
AQQETNKTIA ASASSVKQMA ELLRSSCPER LQQERPQLDR LKTQLSDAIQ CYGVVQKKIA
EKSRALLPMA QRGSKQQSPQ APFAELADDE KVFNGSDNMW QGQEQALLPD ITEEDLEAIR
LREEAILQME SNLLDVNQII KDLASMVSEQ GEAVDSIEAS LEAASSHAEA ARQLLAGASR
HQLQRHKIKC CFLSAGVTAL LVIIIIIATS VRK*

mutated AA sequence

MSYGSIARGG GLGSRGPLGG PSRQGCQPLE CARCWTEYGI RHFPCPSPES KLQNRCVGKD
GEGDLGPAGT PIVPRARKRG PGVAPEGSRM PEPTSSPTIG PRKDSAAGPH GRMAGPSTTR
AKKRKPNFCP QETEVLVSKV SKHHQLLFGT GLLKAEPTRR YRVWSRILQA VNALGYCRRD
VVDLKHKWRD LRAVVRRKLG DLRKAAHGPS PGSGKPQALA LTPVEQVVAK TFSCQALPSE
GFSLEPPRAT QVDPCNLQEL FQEMSANVFR INSSVTSLER SLQSLGTPSD TQELRDSLHT
AQQETNKTIA ASASSVKQMA ELLRSSCPER LQQERPQLDR LKTQLSDAIQ CYGVVQKKIA
EKSRALLPMA QRGSKQQSPQ APFAELADDE KVFNGSDNMW QGQEQALLPD ITEEDLEAIR
LREEAILQME SNLLDVNQII KDLASMVSEQ GEAVDSIEAS LEAASSHAEA ARQLLAGASR
HQLQRHKIKC CFLSAGVTAL LVIIIIIATS VRK*

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999989004 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:143436034A>GN/A show variant in all transcripts IGV

HGNC symbol

TSNARE1

Ensembl transcript ID

ENST00000307180

Genbank transcript ID

NM_145003

UniProt peptide

Q96NA8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.52T>C
cDNA.170T>C
g.48568T>C

AA changes

F18L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7814359

database	homozygous (G/G)	heterozygous	allele carriers
1000G	413	956	1369
ExAC	4258	20562	24820

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.245	0.008
	0.777	0.012
(flanking)	0.227	0.013

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 marginally increased	48572	wt: 0.4764 / mu: 0.5030 (marginal change - not scored)	wt: GGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAAGGCT mu: GGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAAGGCT	tcgg\|GGGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000020633

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000010752

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0036341

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1542 / 1542

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

514 / 514

position of stopcodon in wt / mu cDNA

1660 / 1660

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

119 / 119

chromosome

strand

-1

last intron/exon boundary

1672

theoretical NMD boundary in CDS

1503

length of CDS

1542

coding sequence (CDS) position

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

170

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

48568

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

143436034

original gDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA

altered gDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA

original cDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA

altered cDNA sequence snippet

GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA

wildtype AA sequence

MSYGSIARGG GLGSRGPFGG PSRQGCQPLE CARCWTEYGI RHFPCPSPES KLQNRCVGKD
GEGDLGPAGT PIVPRARKRG PGVAPEGSRM PEPTSSPTIG PRKDSAAGPH GRMAGPSTTR
AKKRKPNFCP QETEVLVSKV SKHHQLLFGT GLLKAEPTRR YRVWSRILQA VNALGYCRRD
VVDLKHKWRD LRAVVRRKLG DLRKAAHGPS PGSGKPQALA LTPVEQVVAK TFSCQALPSE
GFSLEPPRAT QVDPCNLQEL FQEMSANVFR INSSVTSLER SLQSLGTPSD TQELRDSLHT
AQQETNKTIA ASASSVKQMA ELLRSSCPQE RLQQERPQLD RLKTQLSDAI QCYGVVQKKI
AEKSRALLPM AQRGSKQSPQ APFAELADDE KVFNGSDNMW QGQEQALLPD ITEEDLEAIR
LREEAILQME SNLLDVNQII KDLASMVSEQ GEAVDSIEAS LEAASSHAEA ARQLLAGASR
HQLQRHKIKC CFLSAGVTAL LVIIIIIATS VRK*

mutated AA sequence

MSYGSIARGG GLGSRGPLGG PSRQGCQPLE CARCWTEYGI RHFPCPSPES KLQNRCVGKD
GEGDLGPAGT PIVPRARKRG PGVAPEGSRM PEPTSSPTIG PRKDSAAGPH GRMAGPSTTR
AKKRKPNFCP QETEVLVSKV SKHHQLLFGT GLLKAEPTRR YRVWSRILQA VNALGYCRRD
VVDLKHKWRD LRAVVRRKLG DLRKAAHGPS PGSGKPQALA LTPVEQVVAK TFSCQALPSE
GFSLEPPRAT QVDPCNLQEL FQEMSANVFR INSSVTSLER SLQSLGTPSD TQELRDSLHT
AQQETNKTIA ASASSVKQMA ELLRSSCPQE RLQQERPQLD RLKTQLSDAI QCYGVVQKKI
AEKSRALLPM AQRGSKQSPQ APFAELADDE KVFNGSDNMW QGQEQALLPD ITEEDLEAIR
LREEAILQME SNLLDVNQII KDLASMVSEQ GEAVDSIEAS LEAASSHAEA ARQLLAGASR
HQLQRHKIKC CFLSAGVTAL LVIIIIIATS VRK*

speed

0.82 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

Problems