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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000368087
Querying Taster for transcript #2: ENST00000356962
Querying Taster for transcript #3: ENST00000476845
MT speed 0 s - this script 2.958988 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ARG1	disease_causing_automatic	0.999995172904117	simple_aae		affected	0	I11T	single base exchange	rs28941474		show file
ARG1	disease_causing_automatic	0.999995172904117	simple_aae		affected	0	I11T	single base exchange	rs28941474		show file
ARG1	disease_causing_automatic	0.999995172904117	simple_aae		affected	0	I11T	single base exchange	rs28941474		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999995172904117 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM950090)
known disease mutation: rs2393 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:131894454T>CN/A show variant in all transcripts IGV

HGNC symbol

ARG1

Ensembl transcript ID

ENST00000368087

Genbank transcript ID

NM_000045

UniProt peptide

P05089

alteration type

single base exchange

alteration region

CDS

DNA changes

c.32T>C
cDNA.171T>C
g.171T>C

AA changes

I11T Score: 89 explain score(s)

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

frameshift

known variant

Reference ID: rs28941474

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs2393 (pathogenic for Arginase deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950090)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950090)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950090)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.597	0.864
	3.97	0.887
(flanking)	-0.634	0.745

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	170	wt: 0.20 / mu: 0.61	wt: GGATTATTGGAGCTC mu: GGATTACTGGAGCTC	ATTA\|ttgg
Donor marginally increased	163	wt: 0.6439 / mu: 0.7063 (marginal change - not scored)	wt: ACCATAGGGATTATT mu: ACCATAGGGATTACT	CATA\|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

ENSPTRG00000018600

Mmulatta

all identical

ENSMMUG00000017540

Fcatus

all identical

ENSFCAG00000002068

Mmusculus

all identical

ENSMUSG00000019987

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000002189

Drerio

all identical

ENSDARG00000071703

Dmelanogaster

all identical

FBgn0023535

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
7	13	STRAND		lost
22	26	HELIX		might get lost (downstream of altered splice site)
27	33	HELIX		might get lost (downstream of altered splice site)
36	42	HELIX		might get lost (downstream of altered splice site)
46	52	STRAND		might get lost (downstream of altered splice site)
48	48	CONFLICT	K -> E (in Ref. 3; AAL71547).	might get lost (downstream of altered splice site)
67	69	STRAND		might get lost (downstream of altered splice site)
70	89	HELIX		might get lost (downstream of altered splice site)
86	86	CONFLICT	E -> Q (in Ref. 1; AAA51776).	might get lost (downstream of altered splice site)
93	99	STRAND		might get lost (downstream of altered splice site)
101	101	METAL	Manganese 1.	might get lost (downstream of altered splice site)
101	103	HELIX		might get lost (downstream of altered splice site)
104	114	HELIX		might get lost (downstream of altered splice site)
119	126	STRAND		might get lost (downstream of altered splice site)
124	124	METAL	Manganese 2.	might get lost (downstream of altered splice site)
124	124	METAL	Manganese 1.	might get lost (downstream of altered splice site)
126	126	METAL	Manganese 2.	might get lost (downstream of altered splice site)
126	130	REGION	Substrate binding.	might get lost (downstream of altered splice site)
128	128	METAL	Manganese 1.	might get lost (downstream of altered splice site)
132	134	TURN		might get lost (downstream of altered splice site)
137	139	REGION	Substrate binding.	might get lost (downstream of altered splice site)
140	142	HELIX		might get lost (downstream of altered splice site)
144	148	HELIX		might get lost (downstream of altered splice site)
150	152	HELIX		might get lost (downstream of altered splice site)
153	155	TURN		might get lost (downstream of altered splice site)
171	173	HELIX		might get lost (downstream of altered splice site)
174	179	STRAND		might get lost (downstream of altered splice site)
183	183	BINDING	Substrate.	might get lost (downstream of altered splice site)
184	193	HELIX		might get lost (downstream of altered splice site)
196	199	STRAND		might get lost (downstream of altered splice site)
200	206	HELIX		might get lost (downstream of altered splice site)
202	202	CONFLICT	E -> K (in Ref. 3; AAL71547).	might get lost (downstream of altered splice site)
208	220	HELIX		might get lost (downstream of altered splice site)
221	223	STRAND		might get lost (downstream of altered splice site)
227	232	STRAND		might get lost (downstream of altered splice site)
230	230	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
232	232	METAL	Manganese 2.	might get lost (downstream of altered splice site)
232	232	METAL	Manganese 1.	might get lost (downstream of altered splice site)
233	235	HELIX		might get lost (downstream of altered splice site)
234	234	METAL	Manganese 2.	might get lost (downstream of altered splice site)
238	240	TURN		might get lost (downstream of altered splice site)
243	246	STRAND		might get lost (downstream of altered splice site)
254	267	HELIX		might get lost (downstream of altered splice site)
270	276	STRAND		might get lost (downstream of altered splice site)
280	282	HELIX		might get lost (downstream of altered splice site)
286	303	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

969 / 969

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

323 / 323

position of stopcodon in wt / mu cDNA

1108 / 1108

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

140 / 140

chromosome

strand

last intron/exon boundary

942

theoretical NMD boundary in CDS

752

length of CDS

969

coding sequence (CDS) position

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

171

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

171

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

131894454

original gDNA sequence snippet

GTCCAGAACCATAGGGATTATTGGAGCTCCTTTCTCAAAGG

altered gDNA sequence snippet

GTCCAGAACCATAGGGATTACTGGAGCTCCTTTCTCAAAGG

original cDNA sequence snippet

GTCCAGAACCATAGGGATTATTGGAGCTCCTTTCTCAAAGG

altered cDNA sequence snippet

GTCCAGAACCATAGGGATTACTGGAGCTCCTTTCTCAAAGG

wildtype AA sequence

MSAKSRTIGI IGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQECDVKDY GDLPFADIPN
DSPFQIVKNP RSVGKASEQL AGKVAEVKKN GRISLVLGGD HSLAIGSISG HARVHPDLGV
IWVDAHTDIN TPLTTTSGNL HGQPVSFLLK ELKGKIPDVP GFSWVTPCIS AKDIVYIGLR
DVDPGEHYIL KTLGIKYFSM TEVDRLGIGK VMEETLSYLL GRKKRPIHLS FDVDGLDPSF
TPATGTPVVG GLTYREGLYI TEEIYKTGLL SGLDIMEVNP SLGKTPEEVT RTVNTAVAIT
LACFGLAREG NHKPIDYLNP PK*

mutated AA sequence

MSAKSRTIGI TGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQECDVKDY GDLPFADIPN
DSPFQIVKNP RSVGKASEQL AGKVAEVKKN GRISLVLGGD HSLAIGSISG HARVHPDLGV
IWVDAHTDIN TPLTTTSGNL HGQPVSFLLK ELKGKIPDVP GFSWVTPCIS AKDIVYIGLR
DVDPGEHYIL KTLGIKYFSM TEVDRLGIGK VMEETLSYLL GRKKRPIHLS FDVDGLDPSF
TPATGTPVVG GLTYREGLYI TEEIYKTGLL SGLDIMEVNP SLGKTPEEVT RTVNTAVAIT
LACFGLAREG NHKPIDYLNP PK*

speed

0.42 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

disease causing

Model: simple_aae, prob: 0.999995172904117 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM950090)
known disease mutation: rs2393 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:131894454T>CN/A show variant in all transcripts IGV

HGNC symbol

ARG1

Ensembl transcript ID

ENST00000356962

Genbank transcript ID

NM_001244438

UniProt peptide

P05089

alteration type

single base exchange

alteration region

CDS

DNA changes

c.32T>C
cDNA.90T>C
g.171T>C

AA changes

I11T Score: 89 explain score(s)

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

frameshift

known variant

Reference ID: rs28941474

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.597	0.864
	3.97	0.887
(flanking)	-0.634	0.745

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	170	wt: 0.20 / mu: 0.61	wt: GGATTATTGGAGCTC mu: GGATTACTGGAGCTC	ATTA\|ttgg
Donor marginally increased	163	wt: 0.6439 / mu: 0.7063 (marginal change - not scored)	wt: ACCATAGGGATTATT mu: ACCATAGGGATTACT	CATA\|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

ENSPTRG00000018600

Mmulatta

all identical

ENSMMUG00000017540

Fcatus

all identical

ENSFCAG00000002068

Mmusculus

all identical

ENSMUSG00000019987

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000002189

Drerio

all identical

ENSDARG00000071703

Dmelanogaster

all identical

FBgn0023535

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
7	13	STRAND		lost
22	26	HELIX		might get lost (downstream of altered splice site)
27	33	HELIX		might get lost (downstream of altered splice site)
36	42	HELIX		might get lost (downstream of altered splice site)
46	52	STRAND		might get lost (downstream of altered splice site)
48	48	CONFLICT	K -> E (in Ref. 3; AAL71547).	might get lost (downstream of altered splice site)
67	69	STRAND		might get lost (downstream of altered splice site)
70	89	HELIX		might get lost (downstream of altered splice site)
86	86	CONFLICT	E -> Q (in Ref. 1; AAA51776).	might get lost (downstream of altered splice site)
93	99	STRAND		might get lost (downstream of altered splice site)
101	101	METAL	Manganese 1.	might get lost (downstream of altered splice site)
101	103	HELIX		might get lost (downstream of altered splice site)
104	114	HELIX		might get lost (downstream of altered splice site)
119	126	STRAND		might get lost (downstream of altered splice site)
124	124	METAL	Manganese 2.	might get lost (downstream of altered splice site)
124	124	METAL	Manganese 1.	might get lost (downstream of altered splice site)
126	126	METAL	Manganese 2.	might get lost (downstream of altered splice site)
126	130	REGION	Substrate binding.	might get lost (downstream of altered splice site)
128	128	METAL	Manganese 1.	might get lost (downstream of altered splice site)
132	134	TURN		might get lost (downstream of altered splice site)
137	139	REGION	Substrate binding.	might get lost (downstream of altered splice site)
140	142	HELIX		might get lost (downstream of altered splice site)
144	148	HELIX		might get lost (downstream of altered splice site)
150	152	HELIX		might get lost (downstream of altered splice site)
153	155	TURN		might get lost (downstream of altered splice site)
171	173	HELIX		might get lost (downstream of altered splice site)
174	179	STRAND		might get lost (downstream of altered splice site)
183	183	BINDING	Substrate.	might get lost (downstream of altered splice site)
184	193	HELIX		might get lost (downstream of altered splice site)
196	199	STRAND		might get lost (downstream of altered splice site)
200	206	HELIX		might get lost (downstream of altered splice site)
202	202	CONFLICT	E -> K (in Ref. 3; AAL71547).	might get lost (downstream of altered splice site)
208	220	HELIX		might get lost (downstream of altered splice site)
221	223	STRAND		might get lost (downstream of altered splice site)
227	232	STRAND		might get lost (downstream of altered splice site)
230	230	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
232	232	METAL	Manganese 2.	might get lost (downstream of altered splice site)
232	232	METAL	Manganese 1.	might get lost (downstream of altered splice site)
233	235	HELIX		might get lost (downstream of altered splice site)
234	234	METAL	Manganese 2.	might get lost (downstream of altered splice site)
238	240	TURN		might get lost (downstream of altered splice site)
243	246	STRAND		might get lost (downstream of altered splice site)
254	267	HELIX		might get lost (downstream of altered splice site)
270	276	STRAND		might get lost (downstream of altered splice site)
280	282	HELIX		might get lost (downstream of altered splice site)
286	303	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

993 / 993

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

331 / 331

position of stopcodon in wt / mu cDNA

1051 / 1051

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

885

theoretical NMD boundary in CDS

776

length of CDS

993

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)

171

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

131894454

original gDNA sequence snippet

GTCCAGAACCATAGGGATTATTGGAGCTCCTTTCTCAAAGG

altered gDNA sequence snippet

GTCCAGAACCATAGGGATTACTGGAGCTCCTTTCTCAAAGG

original cDNA sequence snippet

GTCCAGAACCATAGGGATTATTGGAGCTCCTTTCTCAAAGG

altered cDNA sequence snippet

GTCCAGAACCATAGGGATTACTGGAGCTCCTTTCTCAAAGG

wildtype AA sequence

MSAKSRTIGI IGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQVTQNFLI LECDVKDYGD
LPFADIPNDS PFQIVKNPRS VGKASEQLAG KVAEVKKNGR ISLVLGGDHS LAIGSISGHA
RVHPDLGVIW VDAHTDINTP LTTTSGNLHG QPVSFLLKEL KGKIPDVPGF SWVTPCISAK
DIVYIGLRDV DPGEHYILKT LGIKYFSMTE VDRLGIGKVM EETLSYLLGR KKRPIHLSFD
VDGLDPSFTP ATGTPVVGGL TYREGLYITE EIYKTGLLSG LDIMEVNPSL GKTPEEVTRT
VNTAVAITLA CFGLAREGNH KPIDYLNPPK *

mutated AA sequence

MSAKSRTIGI TGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQVTQNFLI LECDVKDYGD
LPFADIPNDS PFQIVKNPRS VGKASEQLAG KVAEVKKNGR ISLVLGGDHS LAIGSISGHA
RVHPDLGVIW VDAHTDINTP LTTTSGNLHG QPVSFLLKEL KGKIPDVPGF SWVTPCISAK
DIVYIGLRDV DPGEHYILKT LGIKYFSMTE VDRLGIGKVM EETLSYLLGR KKRPIHLSFD
VDGLDPSFTP ATGTPVVGGL TYREGLYITE EIYKTGLLSG LDIMEVNPSL GKTPEEVTRT
VNTAVAITLA CFGLAREGNH KPIDYLNPPK *

speed

0.45 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999995172904117 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM950090)
known disease mutation: rs2393 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:131894454T>CN/A show variant in all transcripts IGV

HGNC symbol

ARG1

Ensembl transcript ID

ENST00000476845

Genbank transcript ID

N/A

UniProt peptide

P05089

alteration type

single base exchange

alteration region

CDS

DNA changes

c.32T>C
cDNA.89T>C
g.171T>C

AA changes

I11T Score: 89 explain score(s)

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

frameshift

known variant

Reference ID: rs28941474

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.597	0.864
	3.97	0.887
(flanking)	-0.634	0.745

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	170	wt: 0.20 / mu: 0.61	wt: GGATTATTGGAGCTC mu: GGATTACTGGAGCTC	ATTA\|ttgg
Donor marginally increased	163	wt: 0.6439 / mu: 0.7063 (marginal change - not scored)	wt: ACCATAGGGATTATT mu: ACCATAGGGATTACT	CATA\|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

ENSPTRG00000018600

Mmulatta

all identical

ENSMMUG00000017540

Fcatus

all identical

ENSFCAG00000002068

Mmusculus

all identical

ENSMUSG00000019987

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000002189

Drerio

all identical

ENSDARG00000071703

Dmelanogaster

all identical

FBgn0023535

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
7	13	STRAND		lost
22	26	HELIX		might get lost (downstream of altered splice site)
27	33	HELIX		might get lost (downstream of altered splice site)
36	42	HELIX		might get lost (downstream of altered splice site)
46	52	STRAND		might get lost (downstream of altered splice site)
48	48	CONFLICT	K -> E (in Ref. 3; AAL71547).	might get lost (downstream of altered splice site)
67	69	STRAND		might get lost (downstream of altered splice site)
70	89	HELIX		might get lost (downstream of altered splice site)
86	86	CONFLICT	E -> Q (in Ref. 1; AAA51776).	might get lost (downstream of altered splice site)
93	99	STRAND		might get lost (downstream of altered splice site)
101	101	METAL	Manganese 1.	might get lost (downstream of altered splice site)
101	103	HELIX		might get lost (downstream of altered splice site)
104	114	HELIX		might get lost (downstream of altered splice site)
119	126	STRAND		might get lost (downstream of altered splice site)
124	124	METAL	Manganese 2.	might get lost (downstream of altered splice site)
124	124	METAL	Manganese 1.	might get lost (downstream of altered splice site)
126	126	METAL	Manganese 2.	might get lost (downstream of altered splice site)
126	130	REGION	Substrate binding.	might get lost (downstream of altered splice site)
128	128	METAL	Manganese 1.	might get lost (downstream of altered splice site)
132	134	TURN		might get lost (downstream of altered splice site)
137	139	REGION	Substrate binding.	might get lost (downstream of altered splice site)
140	142	HELIX		might get lost (downstream of altered splice site)
144	148	HELIX		might get lost (downstream of altered splice site)
150	152	HELIX		might get lost (downstream of altered splice site)
153	155	TURN		might get lost (downstream of altered splice site)
171	173	HELIX		might get lost (downstream of altered splice site)
174	179	STRAND		might get lost (downstream of altered splice site)
183	183	BINDING	Substrate.	might get lost (downstream of altered splice site)
184	193	HELIX		might get lost (downstream of altered splice site)
196	199	STRAND		might get lost (downstream of altered splice site)
200	206	HELIX		might get lost (downstream of altered splice site)
202	202	CONFLICT	E -> K (in Ref. 3; AAL71547).	might get lost (downstream of altered splice site)
208	220	HELIX		might get lost (downstream of altered splice site)
221	223	STRAND		might get lost (downstream of altered splice site)
227	232	STRAND		might get lost (downstream of altered splice site)
230	230	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
232	232	METAL	Manganese 2.	might get lost (downstream of altered splice site)
232	232	METAL	Manganese 1.	might get lost (downstream of altered splice site)
233	235	HELIX		might get lost (downstream of altered splice site)
234	234	METAL	Manganese 2.	might get lost (downstream of altered splice site)
238	240	TURN		might get lost (downstream of altered splice site)
243	246	STRAND		might get lost (downstream of altered splice site)
254	267	HELIX		might get lost (downstream of altered splice site)
270	276	STRAND		might get lost (downstream of altered splice site)
280	282	HELIX		might get lost (downstream of altered splice site)
286	303	HELIX		might get lost (downstream of altered splice site)

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

768 / 768

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

58 / 58

chromosome

strand

last intron/exon boundary

664

theoretical NMD boundary in CDS

556

length of CDS

711

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)

171

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

131894454

original gDNA sequence snippet

GTCCAGAACCATAGGGATTATTGGAGCTCCTTTCTCAAAGG

altered gDNA sequence snippet

GTCCAGAACCATAGGGATTACTGGAGCTCCTTTCTCAAAGG

original cDNA sequence snippet

GTCCAGAACCATAGGGATTATTGGAGCTCCTTTCTCAAAGG

altered cDNA sequence snippet

GTCCAGAACCATAGGGATTACTGGAGCTCCTTTCTCAAAGG

wildtype AA sequence

mutated AA sequence

speed

0.43 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems