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: ENST00000421577
Querying Taster for transcript #2: ENST00000443524
Querying Taster for transcript #3: ENST00000419348
Querying Taster for transcript #4: ENST00000451739
Querying Taster for transcript #5: ENST00000531058
MT speed 6.46 s - this script 7.822131 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
HTATIP2	polymorphism_automatic	5.93070540160223e-05	simple_aae		affected		S231R	single base exchange	rs3824886		show file
HTATIP2	polymorphism_automatic	5.93070540160223e-05	simple_aae		affected		S197R	single base exchange	rs3824886		show file
HTATIP2	polymorphism_automatic	5.93070540160223e-05	simple_aae		affected		S197R	single base exchange	rs3824886		show file
HTATIP2	polymorphism_automatic	5.93070540160223e-05	simple_aae		affected		S151R	single base exchange	rs3824886		show file
HTATIP2	polymorphism_automatic	5.93070540160223e-05	simple_aae		affected		S197R	single base exchange	rs3824886		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999940692945984 (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)

chr11:20404613T>GN/A show variant in all transcripts IGV

HGNC symbol

HTATIP2

Ensembl transcript ID

ENST00000419348

Genbank transcript ID

NM_001098520

UniProt peptide

Q9BUP3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.693T>G
cDNA.762T>G
g.19383T>G

AA changes

S231R Score: 110 explain score(s)

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

231

frameshift

known variant

Reference ID: rs3824886

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1350	866	2216
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.017	0.648
	-1.115	0.001
(flanking)	0.46	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
Acc increased	19376	wt: 0.63 / mu: 0.72	wt: TGGCTCCTTACCAGACTCTTGGGCCAGTGGGCATTCTGTGC mu: TGGCTCCTTACCAGACTCTTGGGCCAGGGGGCATTCTGTGC	cttg\|GGCC
Donor gained	19377	0.71	mu: TCTTGGGCCAGGGGG	TTGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

231

mutated

not conserved

231

Ptroglodytes

all identical

ENSPTRG00000003438

231

Mmulatta

all identical

ENSMMUG00000010718

197

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000039745

197

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000028386

193

Dmelanogaster

no homologue

Celegans

all conserved

C33F10.14

178

Xtropicalis

all conserved

ENSXETG00000014192

195

protein features

start (aa)	end (aa)	feature	details
227	233	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

831 / 831

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

277 / 277

position of stopcodon in wt / mu cDNA

900 / 900

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

70 / 70

chromosome

strand

last intron/exon boundary

675

theoretical NMD boundary in CDS

555

length of CDS

831

coding sequence (CDS) position

693

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

762

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

19383

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

20404613

original gDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered gDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

original cDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered cDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

wildtype AA sequence

MAGPAALSAA AAAALAAALL LLRREDPGPG AGPSMAETEA LSKLREDFRM QNKSVFILGA
SGETGRVLLK EILEQGLFSK VTLIGRRKLT FDEEAYKNVN QEVVDFEKLD DYASAFQGHD
VGFCCLGTTR GKAGAEGFVR VDRDYVLKSA ELAKAGGCKH FNLLSSKGAD KSSNFLYLQV
KGEVEAKVEE LKFDRYSVFR PGVLLCDRQE SRPGEWLVRK FFGSLPDSWA SGHSVPVVTV
VRAMLNNVVR PRDKQMELLE NKAIHDLGKA HGSLKP*

mutated AA sequence

MAGPAALSAA AAAALAAALL LLRREDPGPG AGPSMAETEA LSKLREDFRM QNKSVFILGA
SGETGRVLLK EILEQGLFSK VTLIGRRKLT FDEEAYKNVN QEVVDFEKLD DYASAFQGHD
VGFCCLGTTR GKAGAEGFVR VDRDYVLKSA ELAKAGGCKH FNLLSSKGAD KSSNFLYLQV
KGEVEAKVEE LKFDRYSVFR PGVLLCDRQE SRPGEWLVRK FFGSLPDSWA RGHSVPVVTV
VRAMLNNVVR PRDKQMELLE NKAIHDLGKA HGSLKP*

speed

1.76 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: 0.999940692945984 (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)

chr11:20404613T>GN/A show variant in all transcripts IGV

HGNC symbol

HTATIP2

Ensembl transcript ID

ENST00000421577

Genbank transcript ID

N/A

UniProt peptide

Q9BUP3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.591T>G
cDNA.619T>G
g.19383T>G

AA changes

S197R Score: 110 explain score(s)

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

197

frameshift

known variant

Reference ID: rs3824886

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1350	866	2216
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.017	0.648
	-1.115	0.001
(flanking)	0.46	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
Acc increased	19376	wt: 0.63 / mu: 0.72	wt: TGGCTCCTTACCAGACTCTTGGGCCAGTGGGCATTCTGTGC mu: TGGCTCCTTACCAGACTCTTGGGCCAGGGGGCATTCTGTGC	cttg\|GGCC
Donor gained	19377	0.71	mu: TCTTGGGCCAGGGGG	TTGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

197

mutated

not conserved

197

Ptroglodytes

all identical

ENSPTRG00000003438

231

Mmulatta

all identical

ENSMMUG00000010718

197

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000039745

197

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000028386

193

Dmelanogaster

no homologue

Celegans

all conserved

C33F10.14

178

Xtropicalis

all conserved

ENSXETG00000014192

195

protein features

start (aa)	end (aa)	feature	details
195	198	HELIX		lost
200	202	STRAND		might get lost (downstream of altered splice site)
203	214	HELIX		might get lost (downstream of altered splice site)
220	226	STRAND		might get lost (downstream of altered splice site)
227	233	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

729 / 729

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

243 / 243

position of stopcodon in wt / mu cDNA

757 / 757

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

29 / 29

chromosome

strand

last intron/exon boundary

532

theoretical NMD boundary in CDS

453

length of CDS

729

coding sequence (CDS) position

591

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

619

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

19383

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

20404613

original gDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered gDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

original cDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered cDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

wildtype AA sequence

MAETEALSKL REDFRMQNKS VFILGASGET GRVLLKEILE QGLFSKVTLI GRRKLTFDEE
AYKNVNQEVV DFEKLDDYAS AFQGHDVGFC CLGTTRGKAG AEGFVRVDRD YVLKSAELAK
AGGCKHFNLL SSKGADKSSN FLYLQVKGEV EAKVEELKFD RYSVFRPGVL LCDRQESRPG
EWLVRKFFGS LPDSWASGHS VPVVTVVRAM LNNVVRPRDK QMELLENKAI HDLGKAHGSL
KP*

mutated AA sequence

MAETEALSKL REDFRMQNKS VFILGASGET GRVLLKEILE QGLFSKVTLI GRRKLTFDEE
AYKNVNQEVV DFEKLDDYAS AFQGHDVGFC CLGTTRGKAG AEGFVRVDRD YVLKSAELAK
AGGCKHFNLL SSKGADKSSN FLYLQVKGEV EAKVEELKFD RYSVFRPGVL LCDRQESRPG
EWLVRKFFGS LPDSWARGHS VPVVTVVRAM LNNVVRPRDK QMELLENKAI HDLGKAHGSL
KP*

speed

1.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999940692945984 (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)

chr11:20404613T>GN/A show variant in all transcripts IGV

HGNC symbol

HTATIP2

Ensembl transcript ID

ENST00000443524

Genbank transcript ID

N/A

UniProt peptide

Q9BUP3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.591T>G
cDNA.666T>G
g.19383T>G

AA changes

S197R Score: 110 explain score(s)

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

197

frameshift

known variant

Reference ID: rs3824886

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1350	866	2216
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.017	0.648
	-1.115	0.001
(flanking)	0.46	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
Acc increased	19376	wt: 0.63 / mu: 0.72	wt: TGGCTCCTTACCAGACTCTTGGGCCAGTGGGCATTCTGTGC mu: TGGCTCCTTACCAGACTCTTGGGCCAGGGGGCATTCTGTGC	cttg\|GGCC
Donor gained	19377	0.71	mu: TCTTGGGCCAGGGGG	TTGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

197

mutated

not conserved

197

Ptroglodytes

all identical

ENSPTRG00000003438

231

Mmulatta

all identical

ENSMMUG00000010718

197

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000039745

197

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000028386

193

Dmelanogaster

no homologue

Celegans

all conserved

C33F10.14

178

Xtropicalis

all conserved

ENSXETG00000014192

195

protein features

start (aa)	end (aa)	feature	details
195	198	HELIX		lost
200	202	STRAND		might get lost (downstream of altered splice site)
203	214	HELIX		might get lost (downstream of altered splice site)
220	226	STRAND		might get lost (downstream of altered splice site)
227	233	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

729 / 729

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

243 / 243

position of stopcodon in wt / mu cDNA

804 / 804

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

76 / 76

chromosome

strand

last intron/exon boundary

579

theoretical NMD boundary in CDS

453

length of CDS

729

coding sequence (CDS) position

591

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

666

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

19383

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

20404613

original gDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered gDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

original cDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered cDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

wildtype AA sequence

mutated AA sequence

MAETEALSKL REDFRMQNKS VFILGASGET GRVLLKEILE QGLFSKVTLI GRRKLTFDEE
AYKNVNQEVV DFEKLDDYAS AFQGHDVGFC CLGTTRGKAG AEGFVRVDRD YVLKSAELAK
AGGCKHFNLL SSKGADKSSN FLYLQVKGEV EAKVEELKFD RYSVFRPGVL LCDRQESRPG
EWLVRKFFGS LPDSWARGHS VPVVTVVRAM LNNVVRPRDK QMELLENKAI HDLGKAHGSL
KP*

speed

1.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999940692945984 (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)

chr11:20404613T>GN/A show variant in all transcripts IGV

HGNC symbol

HTATIP2

Ensembl transcript ID

ENST00000531058

Genbank transcript ID

N/A

UniProt peptide

Q9BUP3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.453T>G
cDNA.511T>G
g.19383T>G

AA changes

S151R Score: 110 explain score(s)

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

151

frameshift

known variant

Reference ID: rs3824886

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1350	866	2216
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.017	0.648
	-1.115	0.001
(flanking)	0.46	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
Acc increased	19376	wt: 0.63 / mu: 0.72	wt: TGGCTCCTTACCAGACTCTTGGGCCAGTGGGCATTCTGTGC mu: TGGCTCCTTACCAGACTCTTGGGCCAGGGGGCATTCTGTGC	cttg\|GGCC
Donor gained	19377	0.71	mu: TCTTGGGCCAGGGGG	TTGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

151

mutated

not conserved

151

Ptroglodytes

all identical

ENSPTRG00000003438

231

Mmulatta

all identical

ENSMMUG00000010718

197

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000039745

197

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000028386

193

Dmelanogaster

no homologue

Celegans

all conserved

C33F10.14

170

Xtropicalis

all conserved

ENSXETG00000014192

195

protein features

start (aa)	end (aa)	feature	details
142	155	HELIX		lost
160	166	STRAND		might get lost (downstream of altered splice site)
169	171	STRAND		might get lost (downstream of altered splice site)
170	170	CONFLICT	L -> P (in Ref. 6; BAD96730).	might get lost (downstream of altered splice site)
175	177	HELIX		might get lost (downstream of altered splice site)
179	188	HELIX		might get lost (downstream of altered splice site)
182	182	CONFLICT	W -> R (in Ref. 2; AAC39694).	might get lost (downstream of altered splice site)
187	187	CONFLICT	F -> L (in Ref. 1; AAB84360).	might get lost (downstream of altered splice site)
195	198	HELIX		might get lost (downstream of altered splice site)
200	202	STRAND		might get lost (downstream of altered splice site)
203	214	HELIX		might get lost (downstream of altered splice site)
220	226	STRAND		might get lost (downstream of altered splice site)
227	233	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

591 / 591

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

197 / 197

position of stopcodon in wt / mu cDNA

649 / 649

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

59 / 59

chromosome

strand

last intron/exon boundary

424

theoretical NMD boundary in CDS

315

length of CDS

591

coding sequence (CDS) position

453

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

511

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

19383

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

20404613

original gDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered gDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

original cDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered cDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

wildtype AA sequence

MAETEALSKL REDFRMQNKS VFILGASGET GRVLLKEILE QGLFSKVTLI GRRKLTFDEE
AYKNVNQEVV DFEKLDDYAS AFQGHDVGFC CLGTTRGKAG AGEVEAKVEE LKFDRYSVFR
PGVLLCDRQE SRPGEWLVRK FFGSLPDSWA SGHSVPVVTV VRAMLNNVVR PRDKQMELLE
NKAIHDLGKA HGSLKP*

mutated AA sequence

MAETEALSKL REDFRMQNKS VFILGASGET GRVLLKEILE QGLFSKVTLI GRRKLTFDEE
AYKNVNQEVV DFEKLDDYAS AFQGHDVGFC CLGTTRGKAG AGEVEAKVEE LKFDRYSVFR
PGVLLCDRQE SRPGEWLVRK FFGSLPDSWA RGHSVPVVTV VRAMLNNVVR PRDKQMELLE
NKAIHDLGKA HGSLKP*

speed

1.10 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999940692945984 (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)

chr11:20404613T>GN/A show variant in all transcripts IGV

HGNC symbol

HTATIP2

Ensembl transcript ID

ENST00000451739

Genbank transcript ID

NM_001098521

UniProt peptide

Q9BUP3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.591T>G
cDNA.1032T>G
g.19383T>G

AA changes

S197R Score: 110 explain score(s)

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

197

frameshift

known variant

Reference ID: rs3824886

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1350	866	2216
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.017	0.648
	-1.115	0.001
(flanking)	0.46	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
Acc increased	19376	wt: 0.63 / mu: 0.72	wt: TGGCTCCTTACCAGACTCTTGGGCCAGTGGGCATTCTGTGC mu: TGGCTCCTTACCAGACTCTTGGGCCAGGGGGCATTCTGTGC	cttg\|GGCC
Donor gained	19377	0.71	mu: TCTTGGGCCAGGGGG	TTGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

197

mutated

not conserved

197

Ptroglodytes

all identical

ENSPTRG00000003438

231

Mmulatta

all identical

ENSMMUG00000010718

197

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000039745

197

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000028386

193

Dmelanogaster

no homologue

Celegans

all conserved

C33F10.14

178

Xtropicalis

all conserved

ENSXETG00000014192

195

protein features

start (aa)	end (aa)	feature	details
195	198	HELIX		lost
200	202	STRAND		might get lost (downstream of altered splice site)
203	214	HELIX		might get lost (downstream of altered splice site)
220	226	STRAND		might get lost (downstream of altered splice site)
227	233	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

729 / 729

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

243 / 243

position of stopcodon in wt / mu cDNA

1170 / 1170

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

442 / 442

chromosome

strand

last intron/exon boundary

945

theoretical NMD boundary in CDS

453

length of CDS

729

coding sequence (CDS) position

591

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

1032

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

19383

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

20404613

original gDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered gDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

original cDNA sequence snippet

TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT

altered cDNA sequence snippet

TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT

wildtype AA sequence

mutated AA sequence

MAETEALSKL REDFRMQNKS VFILGASGET GRVLLKEILE QGLFSKVTLI GRRKLTFDEE
AYKNVNQEVV DFEKLDDYAS AFQGHDVGFC CLGTTRGKAG AEGFVRVDRD YVLKSAELAK
AGGCKHFNLL SSKGADKSSN FLYLQVKGEV EAKVEELKFD RYSVFRPGVL LCDRQESRPG
EWLVRKFFGS LPDSWARGHS VPVVTVVRAM LNNVVRPRDK QMELLENKAI HDLGKAHGSL
KP*

speed

1.13 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