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: ENST00000404488
Querying Taster for transcript #2: ENST00000328268
Querying Taster for transcript #3: ENST00000407217
Querying Taster for transcript #4: ENST00000403427
MT speed 0 s - this script 5.437467 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CRELD2	polymorphism_automatic	0.00222637599829101	simple_aae		affected		D182E	single base exchange	rs8139422		show file
CRELD2	polymorphism_automatic	0.00222637599829101	simple_aae		affected		D182E	single base exchange	rs8139422		show file
CRELD2	polymorphism_automatic	0.00222637599829101	simple_aae		affected		D182E	single base exchange	rs8139422		show file
CRELD2	polymorphism_automatic	0.00222637599829101	simple_aae		affected		D182E	single base exchange	rs8139422		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.997773624001709 (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)

chr22:50315363C>AN/A show variant in all transcripts IGV

HGNC symbol

CRELD2

Ensembl transcript ID

ENST00000404488

Genbank transcript ID

NM_001135101

UniProt peptide

Q6UXH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.546C>A
cDNA.681C>A
g.3549C>A

AA changes

D182E Score: 45 explain score(s)

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

182

frameshift

known variant

Reference ID: rs8139422

database	homozygous (A/A)	heterozygous	allele carriers
1000G	226	560	786
ExAC	1585	7578	9163

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.768	0.169
	-2.918	0.002
(flanking)	3.526	0.996

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	3550	wt: 0.6593 / mu: 0.7222 (marginal change - not scored)	wt: TGGACGGCTACTTCA mu: TGGAAGGCTACTTCA	GACG\|gcta
Donor increased	3544	wt: 0.41 / mu: 0.99	wt: ACTGCATGGACGGCT mu: ACTGCATGGAAGGCT	TGCA\|tgga
Donor gained	3545	0.73	mu: CTGCATGGAAGGCTA	GCAT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

182

mutated

all conserved

182

Ptroglodytes

all identical

ENSPTRG00000014524

182

Mmulatta

all identical

ENSMMUG00000011278

182

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000023272

180

Ggallus

not conserved

ENSGALG00000008551

191

Trubripes

no homologue

Drerio

all identical

ENSDARG00000029071

182

Dmelanogaster

not conserved

FBgn0031217

183

Celegans

not conserved

F09E8.2

192

Xtropicalis

all identical

ENSXETG00000014527

180

protein features

start (aa)	end (aa)	feature	details
193	240	REPEAT	FU 1.	might get lost (downstream of altered splice site)
251	251	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
253	302	REPEAT	FU 2.	might get lost (downstream of altered splice site)
290	331	DOMAIN	EGF-like 2; calcium-binding (Potential).	might get lost (downstream of altered splice site)
294	294	DISULFID	By similarity.	might get lost (downstream of altered splice site)
301	301	DISULFID	By similarity.	might get lost (downstream of altered splice site)
308	308	DISULFID	By similarity.	might get lost (downstream of altered splice site)
317	317	DISULFID	By similarity.	might get lost (downstream of altered splice site)
319	319	DISULFID	By similarity.	might get lost (downstream of altered splice site)
330	330	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1209 / 1209

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

403 / 403

position of stopcodon in wt / mu cDNA

1344 / 1344

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

136 / 136

chromosome

strand

last intron/exon boundary

1292

theoretical NMD boundary in CDS

1106

length of CDS

1209

coding sequence (CDS) position

546

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

681

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

3549

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

50315363

original gDNA sequence snippet

CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG

altered gDNA sequence snippet

CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG

original cDNA sequence snippet

CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG

altered cDNA sequence snippet

CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG

wildtype AA sequence

MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MDGYFSSLRN ETHSICTVRT GLSDSYPPCC LSLGCWRGVG HAWIRGRNTH TQPGYSSRVW
IAAFSPACDE SCKTCSGLTN RDCGECEVGW VLDEGACVDV DECAAEPPPC SAAQFCKNAN
GSYTCEECDS SCVGCTGEGP GNCKECISGY AREHGQCADV DECSLAEKTC VRKNENCYNT
PGSYVCVCPD GFEETEDACV PPAEAEATEG ESPTQLPSRE DL*

mutated AA sequence

MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MEGYFSSLRN ETHSICTVRT GLSDSYPPCC LSLGCWRGVG HAWIRGRNTH TQPGYSSRVW
IAAFSPACDE SCKTCSGLTN RDCGECEVGW VLDEGACVDV DECAAEPPPC SAAQFCKNAN
GSYTCEECDS SCVGCTGEGP GNCKECISGY AREHGQCADV DECSLAEKTC VRKNENCYNT
PGSYVCVCPD GFEETEDACV PPAEAEATEG ESPTQLPSRE DL*

speed

1.24 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: 0.997773624001709 (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)

chr22:50315363C>AN/A show variant in all transcripts IGV

HGNC symbol

CRELD2

Ensembl transcript ID

ENST00000328268

Genbank transcript ID

NM_024324

UniProt peptide

Q6UXH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.546C>A
cDNA.620C>A
g.3549C>A

AA changes

D182E Score: 45 explain score(s)

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

182

frameshift

known variant

Reference ID: rs8139422

database	homozygous (A/A)	heterozygous	allele carriers
1000G	226	560	786
ExAC	1585	7578	9163

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.768	0.169
	-2.918	0.002
(flanking)	3.526	0.996

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	3550	wt: 0.6593 / mu: 0.7222 (marginal change - not scored)	wt: TGGACGGCTACTTCA mu: TGGAAGGCTACTTCA	GACG\|gcta
Donor increased	3544	wt: 0.41 / mu: 0.99	wt: ACTGCATGGACGGCT mu: ACTGCATGGAAGGCT	TGCA\|tgga
Donor gained	3545	0.73	mu: CTGCATGGAAGGCTA	GCAT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

182

mutated

all conserved

182

Ptroglodytes

all identical

ENSPTRG00000014524

182

Mmulatta

all identical

ENSMMUG00000011278

182

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000023272

180

Ggallus

not conserved

ENSGALG00000008551

191

Trubripes

no homologue

Drerio

all identical

ENSDARG00000029071

182

Dmelanogaster

not conserved

FBgn0031217

183

Celegans

not conserved

F09E8.2

192

Xtropicalis

all identical

ENSXETG00000014527

180

protein features

start (aa)	end (aa)	feature	details
193	240	REPEAT	FU 1.	might get lost (downstream of altered splice site)
251	251	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
253	302	REPEAT	FU 2.	might get lost (downstream of altered splice site)
290	331	DOMAIN	EGF-like 2; calcium-binding (Potential).	might get lost (downstream of altered splice site)
294	294	DISULFID	By similarity.	might get lost (downstream of altered splice site)
301	301	DISULFID	By similarity.	might get lost (downstream of altered splice site)
308	308	DISULFID	By similarity.	might get lost (downstream of altered splice site)
317	317	DISULFID	By similarity.	might get lost (downstream of altered splice site)
319	319	DISULFID	By similarity.	might get lost (downstream of altered splice site)
330	330	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1062 / 1062

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

354 / 354

position of stopcodon in wt / mu cDNA

1136 / 1136

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

last intron/exon boundary

1084

theoretical NMD boundary in CDS

959

length of CDS

1062

coding sequence (CDS) position

546

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

620

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

3549

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

50315363

original gDNA sequence snippet

CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG

altered gDNA sequence snippet

CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG

original cDNA sequence snippet

CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG

altered cDNA sequence snippet

CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG

wildtype AA sequence

MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MDGYFSSLRN ETHSICTACD ESCKTCSGLT NRDCGECEVG WVLDEGACVD VDECAAEPPP
CSAAQFCKNA NGSYTCEECD SSCVGCTGEG PGNCKECISG YAREHGQCAD VDECSLAEKT
CVRKNENCYN TPGSYVCVCP DGFEETEDAC VPPAEAEATE GESPTQLPSR EDL*

mutated AA sequence

MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MEGYFSSLRN ETHSICTACD ESCKTCSGLT NRDCGECEVG WVLDEGACVD VDECAAEPPP
CSAAQFCKNA NGSYTCEECD SSCVGCTGEG PGNCKECISG YAREHGQCAD VDECSLAEKT
CVRKNENCYN TPGSYVCVCP DGFEETEDAC VPPAEAEATE GESPTQLPSR EDL*

speed

0.99 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.997773624001709 (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)

chr22:50315363C>AN/A show variant in all transcripts IGV

HGNC symbol

CRELD2

Ensembl transcript ID

ENST00000407217

Genbank transcript ID

N/A

UniProt peptide

Q6UXH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.546C>A
cDNA.583C>A
g.3549C>A

AA changes

D182E Score: 45 explain score(s)

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

182

frameshift

known variant

Reference ID: rs8139422

database	homozygous (A/A)	heterozygous	allele carriers
1000G	226	560	786
ExAC	1585	7578	9163

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.768	0.169
	-2.918	0.002
(flanking)	3.526	0.996

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	3550	wt: 0.6593 / mu: 0.7222 (marginal change - not scored)	wt: TGGACGGCTACTTCA mu: TGGAAGGCTACTTCA	GACG\|gcta
Donor increased	3544	wt: 0.41 / mu: 0.99	wt: ACTGCATGGACGGCT mu: ACTGCATGGAAGGCT	TGCA\|tgga
Donor gained	3545	0.73	mu: CTGCATGGAAGGCTA	GCAT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

182

mutated

all conserved

182

Ptroglodytes

all identical

ENSPTRG00000014524

182

Mmulatta

all identical

ENSMMUG00000011278

182

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000023272

180

Ggallus

not conserved

ENSGALG00000008551

191

Trubripes

no homologue

Drerio

all identical

ENSDARG00000029071

182

Dmelanogaster

not conserved

FBgn0031217

183

Celegans

not conserved

F09E8.2

192

Xtropicalis

all identical

ENSXETG00000014527

180

protein features

start (aa)	end (aa)	feature	details
193	240	REPEAT	FU 1.	might get lost (downstream of altered splice site)
251	251	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
253	302	REPEAT	FU 2.	might get lost (downstream of altered splice site)
290	331	DOMAIN	EGF-like 2; calcium-binding (Potential).	might get lost (downstream of altered splice site)
294	294	DISULFID	By similarity.	might get lost (downstream of altered splice site)
301	301	DISULFID	By similarity.	might get lost (downstream of altered splice site)
308	308	DISULFID	By similarity.	might get lost (downstream of altered splice site)
317	317	DISULFID	By similarity.	might get lost (downstream of altered splice site)
319	319	DISULFID	By similarity.	might get lost (downstream of altered splice site)
330	330	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

966 / 966

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

322 / 322

position of stopcodon in wt / mu cDNA

1003 / 1003

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

38 / 38

chromosome

strand

last intron/exon boundary

951

theoretical NMD boundary in CDS

863

length of CDS

966

coding sequence (CDS) position

546

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

583

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

3549

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

50315363

original gDNA sequence snippet

CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG

altered gDNA sequence snippet

CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG

original cDNA sequence snippet

CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG

altered cDNA sequence snippet

CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG

wildtype AA sequence

MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MDGYFSSLRN ETHSICTACD ESCKTCSGLT NRDCGECEVG WVLDEGACVD VDECAAEPPP
CSAAQFCKNA NGSYTCEDVD ECSLAEKTCV RKNENCYNTP GSYVCVCPDG FEETEDACVP
PAEAEATEGE SPTQLPSRED L*

mutated AA sequence

MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MEGYFSSLRN ETHSICTACD ESCKTCSGLT NRDCGECEVG WVLDEGACVD VDECAAEPPP
CSAAQFCKNA NGSYTCEDVD ECSLAEKTCV RKNENCYNTP GSYVCVCPDG FEETEDACVP
PAEAEATEGE SPTQLPSRED L*

speed

0.91 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.997773624001709 (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)

chr22:50315363C>AN/A show variant in all transcripts IGV

HGNC symbol

CRELD2

Ensembl transcript ID

ENST00000403427

Genbank transcript ID

N/A

UniProt peptide

Q6UXH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.546C>A
cDNA.583C>A
g.3549C>A

AA changes

D182E Score: 45 explain score(s)

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

182

frameshift

known variant

Reference ID: rs8139422

database	homozygous (A/A)	heterozygous	allele carriers
1000G	226	560	786
ExAC	1585	7578	9163

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.768	0.169
	-2.918	0.002
(flanking)	3.526	0.996

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	3550	wt: 0.6593 / mu: 0.7222 (marginal change - not scored)	wt: TGGACGGCTACTTCA mu: TGGAAGGCTACTTCA	GACG\|gcta
Donor increased	3544	wt: 0.41 / mu: 0.99	wt: ACTGCATGGACGGCT mu: ACTGCATGGAAGGCT	TGCA\|tgga
Donor gained	3545	0.73	mu: CTGCATGGAAGGCTA	GCAT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

182

mutated

all conserved

182

Ptroglodytes

all identical

ENSPTRG00000014524

182

Mmulatta

all identical

ENSMMUG00000011278

182

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000023272

180

Ggallus

not conserved

ENSGALG00000008551

191

Trubripes

no homologue

Drerio

all identical

ENSDARG00000029071

182

Dmelanogaster

not conserved

FBgn0031217

183

Celegans

not conserved

F09E8.2

192

Xtropicalis

all identical

ENSXETG00000014527

180

protein features

start (aa)	end (aa)	feature	details
193	240	REPEAT	FU 1.	might get lost (downstream of altered splice site)
251	251	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
253	302	REPEAT	FU 2.	might get lost (downstream of altered splice site)
290	331	DOMAIN	EGF-like 2; calcium-binding (Potential).	might get lost (downstream of altered splice site)
294	294	DISULFID	By similarity.	might get lost (downstream of altered splice site)
301	301	DISULFID	By similarity.	might get lost (downstream of altered splice site)
308	308	DISULFID	By similarity.	might get lost (downstream of altered splice site)
317	317	DISULFID	By similarity.	might get lost (downstream of altered splice site)
319	319	DISULFID	By similarity.	might get lost (downstream of altered splice site)
330	330	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

978 / 978

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

326 / 326

position of stopcodon in wt / mu cDNA

1015 / 1015

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

38 / 38

chromosome

strand

last intron/exon boundary

963

theoretical NMD boundary in CDS

875

length of CDS

978

coding sequence (CDS) position

546

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

583

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

3549

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

50315363

original gDNA sequence snippet

CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG

altered gDNA sequence snippet

CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG

original cDNA sequence snippet

CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG

altered cDNA sequence snippet

CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG

wildtype AA sequence

MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MDGYFSSLRN ETHSICTACD ESCKTCSGLT NRDCGECEVG WVLDEGACVE CDSSCVGCTG
EGPGNCKECI SGYAREHGQC ADVDECSLAE KTCVRKNENC YNTPGSYVCV CPDGFEETED
ACVPPAEAEA TEGESPTQLP SREDL*

mutated AA sequence

MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MEGYFSSLRN ETHSICTACD ESCKTCSGLT NRDCGECEVG WVLDEGACVE CDSSCVGCTG
EGPGNCKECI SGYAREHGQC ADVDECSLAE KTCVRKNENC YNTPGSYVCV CPDGFEETED
ACVPPAEAEA TEGESPTQLP SREDL*

speed

1.24 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