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: ENST00000395782
Querying Taster for transcript #2: ENST00000395783
Querying Taster for transcript #3: ENST00000435340
Querying Taster for transcript #4: ENST00000255389
Querying Taster for transcript #5: ENST00000395781
MT speed 0 s - this script 5.303378 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PEMT	polymorphism_automatic	4.06996658597336e-12	simple_aae		affected		S201N	single base exchange	rs7946		show file
PEMT	polymorphism_automatic	4.06996658597336e-12	simple_aae		affected		S222N	single base exchange	rs7946		show file
PEMT	polymorphism_automatic	1.47173507603071e-06	simple_aae		affected		V212M	single base exchange	rs7946		show file
PEMT	polymorphism_automatic	3.29701307799635e-06	simple_aae		affected		V175M	single base exchange	rs7946		show file
PEMT	polymorphism_automatic	3.29701307799635e-06	simple_aae		affected		V175M	single base exchange	rs7946		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999593 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM054062)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:17409560C>TN/A show variant in all transcripts IGV

HGNC symbol

PEMT

Ensembl transcript ID

ENST00000435340

Genbank transcript ID

N/A

UniProt peptide

Q9UBM1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.602G>A
cDNA.655G>A
g.85463G>A

AA changes

S201N Score: 46 explain score(s)

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

201

frameshift

known variant

Reference ID: rs7946

database	homozygous (T/T)	heterozygous	allele carriers
1000G	555	1016	1571
ExAC	10636	11495	22131

known disease mutation at this position, please check HGMD for details (HGMD ID CM054062)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.051	0.067
	0.331	0.052
(flanking)	0.405	0.048

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	85463	wt: 0.2357 / mu: 0.2523 (marginal change - not scored)	wt: TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG mu: TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG	atag\|TGGC
Acc marginally increased	85457	wt: 0.5630 / mu: 0.6371 (marginal change - not scored)	wt: CGGTGCTGGTGGCCCTCACCTACATAGTGGCTCTCCTATAC mu: CGGTGCTGGTGGCCCTCACCTACATAATGGCTCTCCTATAC	acct\|ACAT
Acc marginally increased	85473	wt: 0.7180 / mu: 0.7283 (marginal change - not scored)	wt: CACCTACATAGTGGCTCTCCTATACGAAGAGTGAGTAGGGG mu: CACCTACATAATGGCTCTCCTATACGAAGAGTGAGTAGGGG	tcct\|ATAC
Donor gained	85459	0.34	mu: ACCTACATAATGGCT	CTAC\|ataa
Donor gained	85454	0.35	mu: CCCTCACCTACATAA	CTCA\|ccta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

201

mutated

all conserved

201

Ptroglodytes

no alignment

ENSPTRG00000008832

n/a

Mmulatta

no alignment

ENSMMUG00000006495

n/a

Fcatus

no alignment

ENSFCAG00000005701

n/a

Mmusculus

no alignment

ENSMUSG00000000301

n/a

Ggallus

no alignment

ENSGALG00000004875

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000040450

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000005734

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

636 / 636

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

212 / 212

position of stopcodon in wt / mu cDNA

689 / 689

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

54 / 54

chromosome

strand

-1

last intron/exon boundary

675

theoretical NMD boundary in CDS

571

length of CDS

636

coding sequence (CDS) position

602

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

655

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

85463

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

17409560

original gDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered gDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

original cDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered cDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

wildtype AA sequence

MKRSGNPGAE ADFCVMTRLL GYVDPLDPSF VAAVITITFN PLYWNVVARW EHKTRKLSRA
FGSPYLACYS LSVTILLLNF LRSHCFTQAM LSQPRMESLD TPAAYSLGLA LLGLGVVLVL
SSFFALGFAG TFLGDYFGIL KEARVTVFPF NILDNPMYWG STANYLGWAI ISPAPAGAVG
SEARQPHGPA PDGAGGPHLH SGSPIRRALH R*

mutated AA sequence

speed

1.13 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: 0.99999999999593 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM054062)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:17409560C>TN/A show variant in all transcripts IGV

HGNC symbol

PEMT

Ensembl transcript ID

ENST00000395781

Genbank transcript ID

NM_001267552

UniProt peptide

Q9UBM1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.665G>A
cDNA.747G>A
g.85463G>A

AA changes

S222N Score: 46 explain score(s)

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

222

frameshift

known variant

Reference ID: rs7946

database	homozygous (T/T)	heterozygous	allele carriers
1000G	555	1016	1571
ExAC	10636	11495	22131

known disease mutation at this position, please check HGMD for details (HGMD ID CM054062)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.051	0.067
	0.331	0.052
(flanking)	0.405	0.048

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	85463	wt: 0.2357 / mu: 0.2523 (marginal change - not scored)	wt: TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG mu: TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG	atag\|TGGC
Acc marginally increased	85457	wt: 0.5630 / mu: 0.6371 (marginal change - not scored)	wt: CGGTGCTGGTGGCCCTCACCTACATAGTGGCTCTCCTATAC mu: CGGTGCTGGTGGCCCTCACCTACATAATGGCTCTCCTATAC	acct\|ACAT
Acc marginally increased	85473	wt: 0.7180 / mu: 0.7283 (marginal change - not scored)	wt: CACCTACATAGTGGCTCTCCTATACGAAGAGTGAGTAGGGG mu: CACCTACATAATGGCTCTCCTATACGAAGAGTGAGTAGGGG	tcct\|ATAC
Donor gained	85459	0.34	mu: ACCTACATAATGGCT	CTAC\|ataa
Donor gained	85454	0.35	mu: CCCTCACCTACATAA	CTCA\|ccta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

222

mutated

all conserved

222

Ptroglodytes

no alignment

ENSPTRG00000008832

n/a

Mmulatta

no alignment

ENSMMUG00000006495

n/a

Fcatus

no alignment

ENSFCAG00000005701

n/a

Mmusculus

no alignment

ENSMUSG00000000301

n/a

Ggallus

no alignment

ENSGALG00000004875

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000040450

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000005734

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

699 / 699

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

233 / 233

position of stopcodon in wt / mu cDNA

781 / 781

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

83 / 83

chromosome

strand

-1

last intron/exon boundary

767

theoretical NMD boundary in CDS

634

length of CDS

699

coding sequence (CDS) position

665

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

747

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

85463

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

17409560

original gDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered gDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

original cDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered cDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

wildtype AA sequence

MKRSGNPGAE VTNSSVAGPD CCGGLGNIDF RQADFCVMTR LLGYVDPLDP SFVAAVITIT
FNPLYWNVVA RWEHKTRKLS RAFGSPYLAC YSLSVTILLL NFLRSHCFTQ AMLSQPRMES
LDTPAAYSLG LALLGLGVVL VLSSFFALGF AGTFLGDYFG ILKEARVTVF PFNILDNPMY
WGSTANYLGW AIIPAPAGAV GSEARQPHGP APDGAGGPHL HSGSPIRRAL HR*

mutated AA sequence

speed

0.95 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998528264924 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM054062)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:17409560C>TN/A show variant in all transcripts IGV

HGNC symbol

PEMT

Ensembl transcript ID

ENST00000255389

Genbank transcript ID

NM_148172

UniProt peptide

Q9UBM1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.634G>A
cDNA.708G>A
g.85463G>A

AA changes

V212M Score: 21 explain score(s)

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

212

frameshift

known variant

Reference ID: rs7946

database	homozygous (T/T)	heterozygous	allele carriers
1000G	555	1016	1571
ExAC	10636	11495	22131

known disease mutation at this position, please check HGMD for details (HGMD ID CM054062)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.051	0.067
	0.331	0.052
(flanking)	0.405	0.048

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	85463	wt: 0.2357 / mu: 0.2523 (marginal change - not scored)	wt: TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG mu: TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG	atag\|TGGC
Acc marginally increased	85457	wt: 0.5630 / mu: 0.6371 (marginal change - not scored)	wt: CGGTGCTGGTGGCCCTCACCTACATAGTGGCTCTCCTATAC mu: CGGTGCTGGTGGCCCTCACCTACATAATGGCTCTCCTATAC	acct\|ACAT
Acc marginally increased	85473	wt: 0.7180 / mu: 0.7283 (marginal change - not scored)	wt: CACCTACATAGTGGCTCTCCTATACGAAGAGTGAGTAGGGG mu: CACCTACATAATGGCTCTCCTATACGAAGAGTGAGTAGGGG	tcct\|ATAC
Donor gained	85459	0.34	mu: ACCTACATAATGGCT	CTAC\|ataa
Donor gained	85454	0.35	mu: CCCTCACCTACATAA	CTCA\|ccta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

212

mutated

all conserved

212

Ptroglodytes

all identical

ENSPTRG00000008832

212

Mmulatta

all identical

ENSMMUG00000006495

212

Fcatus

all identical

ENSFCAG00000005701

212

Mmusculus

all identical

ENSMUSG00000000301

212

Ggallus

all conserved

ENSGALG00000004875

220

Trubripes

no homologue

Drerio

all identical

ENSDARG00000040450

206

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000005734

175

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

711 / 711

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

237 / 237

position of stopcodon in wt / mu cDNA

785 / 785

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

75 / 75

chromosome

strand

-1

last intron/exon boundary

728

theoretical NMD boundary in CDS

603

length of CDS

711

coding sequence (CDS) position

634

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

708

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

85463

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

17409560

original gDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered gDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

original cDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered cDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

wildtype AA sequence

mutated AA sequence

speed

1.11 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999996702986922 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM054062)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:17409560C>TN/A show variant in all transcripts IGV

HGNC symbol

PEMT

Ensembl transcript ID

ENST00000395782

Genbank transcript ID

NM_148173

UniProt peptide

Q9UBM1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.523G>A
cDNA.590G>A
g.85463G>A

AA changes

V175M Score: 21 explain score(s)

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

175

frameshift

known variant

Reference ID: rs7946

database	homozygous (T/T)	heterozygous	allele carriers
1000G	555	1016	1571
ExAC	10636	11495	22131

known disease mutation at this position, please check HGMD for details (HGMD ID CM054062)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.051	0.067
	0.331	0.052
(flanking)	0.405	0.048

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	85463	wt: 0.2357 / mu: 0.2523 (marginal change - not scored)	wt: TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG mu: TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG	atag\|TGGC
Acc marginally increased	85457	wt: 0.5630 / mu: 0.6371 (marginal change - not scored)	wt: CGGTGCTGGTGGCCCTCACCTACATAGTGGCTCTCCTATAC mu: CGGTGCTGGTGGCCCTCACCTACATAATGGCTCTCCTATAC	acct\|ACAT
Acc marginally increased	85473	wt: 0.7180 / mu: 0.7283 (marginal change - not scored)	wt: CACCTACATAGTGGCTCTCCTATACGAAGAGTGAGTAGGGG mu: CACCTACATAATGGCTCTCCTATACGAAGAGTGAGTAGGGG	tcct\|ATAC
Donor gained	85459	0.34	mu: ACCTACATAATGGCT	CTAC\|ataa
Donor gained	85454	0.35	mu: CCCTCACCTACATAA	CTCA\|ccta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

175

mutated

all conserved

175

Ptroglodytes

all identical

ENSPTRG00000008832

212

Mmulatta

all identical

ENSMMUG00000006495

212

Fcatus

all identical

ENSFCAG00000005701

212

Mmusculus

all identical

ENSMUSG00000000301

212

Ggallus

all conserved

ENSGALG00000004875

220

Trubripes

no homologue

Drerio

all identical

ENSDARG00000040450

206

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000005734

175

protein features

start (aa)	end (aa)	feature	details
158	178	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

600 / 600

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

200 / 200

position of stopcodon in wt / mu cDNA

667 / 667

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

68 / 68

chromosome

strand

-1

last intron/exon boundary

610

theoretical NMD boundary in CDS

492

length of CDS

600

coding sequence (CDS) position

523

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

590

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

85463

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

17409560

original gDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered gDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

original cDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered cDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

wildtype AA sequence

MTRLLGYVDP LDPSFVAAVI TITFNPLYWN VVARWEHKTR KLSRAFGSPY LACYSLSVTI
LLLNFLRSHC FTQAMLSQPR MESLDTPAAY SLGLALLGLG VVLVLSSFFA LGFAGTFLGD
YFGILKEARV TVFPFNILDN PMYWGSTANY LGWAIMHASP TGLLLTVLVA LTYIVALLYE
EPFTAEIYRQ KASGSHKRS*

mutated AA sequence

speed

1.07 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999996702986922 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM054062)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:17409560C>TN/A show variant in all transcripts IGV

HGNC symbol

PEMT

Ensembl transcript ID

ENST00000395783

Genbank transcript ID

NM_007169

UniProt peptide

Q9UBM1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.523G>A
cDNA.703G>A
g.85463G>A

AA changes

V175M Score: 21 explain score(s)

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

175

frameshift

known variant

Reference ID: rs7946

database	homozygous (T/T)	heterozygous	allele carriers
1000G	555	1016	1571
ExAC	10636	11495	22131

known disease mutation at this position, please check HGMD for details (HGMD ID CM054062)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.051	0.067
	0.331	0.052
(flanking)	0.405	0.048

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	85463	wt: 0.2357 / mu: 0.2523 (marginal change - not scored)	wt: TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG mu: TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG	atag\|TGGC
Acc marginally increased	85457	wt: 0.5630 / mu: 0.6371 (marginal change - not scored)	wt: CGGTGCTGGTGGCCCTCACCTACATAGTGGCTCTCCTATAC mu: CGGTGCTGGTGGCCCTCACCTACATAATGGCTCTCCTATAC	acct\|ACAT
Acc marginally increased	85473	wt: 0.7180 / mu: 0.7283 (marginal change - not scored)	wt: CACCTACATAGTGGCTCTCCTATACGAAGAGTGAGTAGGGG mu: CACCTACATAATGGCTCTCCTATACGAAGAGTGAGTAGGGG	tcct\|ATAC
Donor gained	85459	0.34	mu: ACCTACATAATGGCT	CTAC\|ataa
Donor gained	85454	0.35	mu: CCCTCACCTACATAA	CTCA\|ccta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

175

mutated

all conserved

175

Ptroglodytes

all identical

ENSPTRG00000008832

212

Mmulatta

all identical

ENSMMUG00000006495

212

Fcatus

all identical

ENSFCAG00000005701

212

Mmusculus

all identical

ENSMUSG00000000301

212

Ggallus

all conserved

ENSGALG00000004875

220

Trubripes

no homologue

Drerio

all identical

ENSDARG00000040450

206

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000005734

175

protein features

start (aa)	end (aa)	feature	details
158	178	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

600 / 600

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

200 / 200

position of stopcodon in wt / mu cDNA

780 / 780

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

181 / 181

chromosome

strand

-1

last intron/exon boundary

723

theoretical NMD boundary in CDS

492

length of CDS

600

coding sequence (CDS) position

523

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

703

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

85463

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

17409560

original gDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered gDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

original cDNA sequence snippet

TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG

altered cDNA sequence snippet

TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG

wildtype AA sequence

mutated AA sequence

speed

0.83 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