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: ENST00000393701
Querying Taster for transcript #2: ENST00000568461
Querying Taster for transcript #3: ENST00000288040
Querying Taster for transcript #4: ENST00000449317
MT speed 0 s - this script 4.813773 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CLEC18A	polymorphism_automatic	0.997229936420959	simple_aae		affected		T151M	single base exchange	rs75776403		show file
CLEC18A	polymorphism_automatic	0.997229936420959	simple_aae		affected		T151M	single base exchange	rs75776403		show file
CLEC18A	polymorphism_automatic	0.997229936420959	simple_aae		affected		T151M	single base exchange	rs75776403		show file
CLEC18A	polymorphism_automatic	0.997229936420959	simple_aae		affected		T151M	single base exchange	rs75776403		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00277006357904059 (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)

chr16:69988472C>TN/A show variant in all transcripts IGV

HGNC symbol

CLEC18A

Ensembl transcript ID

ENST00000393701

Genbank transcript ID

N/A

UniProt peptide

A5D8T8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.452C>T
cDNA.691C>T
g.3663C>T

AA changes

T151M Score: 81 explain score(s)

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

151

frameshift

known variant

Reference ID: rs75776403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	286	1020	1306
ExAC	3257	20698	23955

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.119	1
	2.543	0.998
(flanking)	-1.045	0.965

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	3666	sequence motif lost	-	wt: GCAG\|gtga mu: GCAG.gtga
Acc marginally increased	3663	wt: 0.8405 / mu: 0.8525 (marginal change - not scored)	wt: CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG mu: CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG	acac\|GCAG

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

no homologue

Mmulatta

all identical

ENSMMUG00000009424

151

Fcatus

all identical

ENSFCAG00000009480

152

Mmusculus

all identical

ENSMUSG00000033633

239

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000018145

105

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0038126

149

Celegans

not conserved

F48E8.1

176

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
52	182	DOMAIN	SCP.	lost
151	151	CONFLICT	T -> M (in Ref. 2; BAF82573 and 4; AAI41809).	lost
228	261	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
236	236	DISULFID	By similarity.	might get lost (downstream of altered splice site)
249	249	DISULFID	By similarity.	might get lost (downstream of altered splice site)
251	251	DISULFID	By similarity.	might get lost (downstream of altered splice site)
260	260	DISULFID	By similarity.	might get lost (downstream of altered splice site)
273	273	CONFLICT	F -> L (in Ref. 4; AAH78143).	might get lost (downstream of altered splice site)
306	433	DOMAIN	C-type lectin.	might get lost (downstream of altered splice site)
327	327	DISULFID	By similarity.	might get lost (downstream of altered splice site)
339	339	CONFLICT	S -> R (in Ref. 4; AAI41809).	might get lost (downstream of altered splice site)
401	402	CONFLICT	DN -> AT (in Ref. 4; AAH08616).	might get lost (downstream of altered splice site)
408	408	DISULFID	By similarity.	might get lost (downstream of altered splice site)
421	421	CONFLICT	D -> N (in Ref. 4; AAH78143).	might get lost (downstream of altered splice site)
424	424	DISULFID	By similarity.	might get lost (downstream of altered splice site)
432	432	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

1341 / 1341

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

447 / 447

position of stopcodon in wt / mu cDNA

1580 / 1580

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

240 / 240

chromosome

strand

last intron/exon boundary

1543

theoretical NMD boundary in CDS

1253

length of CDS

1341

coding sequence (CDS) position

452

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

691

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

3663

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

69988472

original gDNA sequence snippet

CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG

altered gDNA sequence snippet

CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG

original cDNA sequence snippet

CGCCACCTGCACCCACTACACGCAGCTCGTGTGGGCCACCT

altered cDNA sequence snippet

CGCCACCTGCACCCACTACATGCAGCTCGTGTGGGCCACCT

wildtype AA sequence

MLHPETSPGR GHLLAVLLAL LGTAWAEVWP PQLQEQAPMA GALNRKESFL LLSLHNRLRS
WVQPPAADMR RLDWSDSLAQ LAQARAALCG TPTPSLASGL WRTLQVGWNM QLLPAGLVSF
VEVVSLWFAE GQRYSHAAGE CARNATCTHY TQLVWATSSQ LGCGRHLCSA GQAAIEAFVC
AYSPRGNWEV NGKTIVPYKK GAWCSLCTAS VSGCFKAWDH AGGLCEVPRN PCRMSCQNHG
RLNISTCHCH CPPGYTGRYC QVRCSLQCVH GRFREEECSC VCDIGYGGAQ CATKVHFPFH
TCDLRIDGDC FMVSSEADTY YRARMKCQRK GGVLAQIKSQ KVQDILAFYL GRLETTNEVI
DSDFETRNFW IGLTYKTAKD SFRWATGEHQ AFTSFAFGQP DNHGFGNCVE LQASAAFNWN
DQRCKTRNRY ICQFAQEHIS RWGPGS*

mutated AA sequence

MLHPETSPGR GHLLAVLLAL LGTAWAEVWP PQLQEQAPMA GALNRKESFL LLSLHNRLRS
WVQPPAADMR RLDWSDSLAQ LAQARAALCG TPTPSLASGL WRTLQVGWNM QLLPAGLVSF
VEVVSLWFAE GQRYSHAAGE CARNATCTHY MQLVWATSSQ LGCGRHLCSA GQAAIEAFVC
AYSPRGNWEV NGKTIVPYKK GAWCSLCTAS VSGCFKAWDH AGGLCEVPRN PCRMSCQNHG
RLNISTCHCH CPPGYTGRYC QVRCSLQCVH GRFREEECSC VCDIGYGGAQ CATKVHFPFH
TCDLRIDGDC FMVSSEADTY YRARMKCQRK GGVLAQIKSQ KVQDILAFYL GRLETTNEVI
DSDFETRNFW IGLTYKTAKD SFRWATGEHQ AFTSFAFGQP DNHGFGNCVE LQASAAFNWN
DQRCKTRNRY ICQFAQEHIS RWGPGS*

speed

0.50 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: 0.0027700635790406 (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)

chr16:69988472C>TN/A show variant in all transcripts IGV

HGNC symbol

CLEC18A

Ensembl transcript ID

ENST00000568461

Genbank transcript ID

N/A

UniProt peptide

A5D8T8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.452C>T
cDNA.670C>T
g.3663C>T

AA changes

T151M Score: 81 explain score(s)

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

151

frameshift

known variant

Reference ID: rs75776403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	286	1020	1306
ExAC	3257	20698	23955

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.119	1
	2.543	0.998
(flanking)	-1.045	0.965

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	3666	sequence motif lost	-	wt: GCAG\|gtga mu: GCAG.gtga
Acc marginally increased	3663	wt: 0.8405 / mu: 0.8525 (marginal change - not scored)	wt: CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG mu: CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG	acac\|GCAG

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

no homologue

Mmulatta

all identical

ENSMMUG00000009424

151

Fcatus

all identical

ENSFCAG00000009480

152

Mmusculus

all identical

ENSMUSG00000033633

239

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000018145

105

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0038126

149

Celegans

not conserved

F48E8.1

176

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
52	182	DOMAIN	SCP.	lost
151	151	CONFLICT	T -> M (in Ref. 2; BAF82573 and 4; AAI41809).	lost
228	261	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
236	236	DISULFID	By similarity.	might get lost (downstream of altered splice site)
249	249	DISULFID	By similarity.	might get lost (downstream of altered splice site)
251	251	DISULFID	By similarity.	might get lost (downstream of altered splice site)
260	260	DISULFID	By similarity.	might get lost (downstream of altered splice site)
273	273	CONFLICT	F -> L (in Ref. 4; AAH78143).	might get lost (downstream of altered splice site)
306	433	DOMAIN	C-type lectin.	might get lost (downstream of altered splice site)
327	327	DISULFID	By similarity.	might get lost (downstream of altered splice site)
339	339	CONFLICT	S -> R (in Ref. 4; AAI41809).	might get lost (downstream of altered splice site)
401	402	CONFLICT	DN -> AT (in Ref. 4; AAH08616).	might get lost (downstream of altered splice site)
408	408	DISULFID	By similarity.	might get lost (downstream of altered splice site)
421	421	CONFLICT	D -> N (in Ref. 4; AAH78143).	might get lost (downstream of altered splice site)
424	424	DISULFID	By similarity.	might get lost (downstream of altered splice site)
432	432	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

1341 / 1341

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

447 / 447

position of stopcodon in wt / mu cDNA

1559 / 1559

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

219 / 219

chromosome

strand

last intron/exon boundary

1522

theoretical NMD boundary in CDS

1253

length of CDS

1341

coding sequence (CDS) position

452

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

670

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

3663

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

69988472

original gDNA sequence snippet

CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG

altered gDNA sequence snippet

CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG

original cDNA sequence snippet

CGCCACCTGCACCCACTACACGCAGCTCGTGTGGGCCACCT

altered cDNA sequence snippet

CGCCACCTGCACCCACTACATGCAGCTCGTGTGGGCCACCT

wildtype AA sequence

mutated AA sequence

MLHPETSPGR GHLLAVLLAL LGTAWAEVWP PQLQEQAPMA GALNRKESFL LLSLHNRLRS
WVQPPAADMR RLDWSDSLAQ LAQARAALCG TPTPSLASGL WRTLQVGWNM QLLPAGLVSF
VEVVSLWFAE GQRYSHAAGE CARNATCTHY MQLVWATSSQ LGCGRHLCSA GQAAIEAFVC
AYSPRGNWEV NGKTIVPYKK GAWCSLCTAS VSGCFKAWDH AGGLCEVPRN PCRMSCQNHG
RLNISTCHCH CPPGYTGRYC QVRCSLQCVH GRFREEECSC VCDIGYGGAQ CATKVHFPFH
TCDLRIDGDC FMVSSEADTY YRARMKCQRK GGVLAQIKSQ KVQDILAFYL GRLETTNEVI
DSDFETRNFW IGLTYKTAKD SFRWATGEHQ AFTSFAFGQP DNHGFGNCVE LQASAAFNWN
DQRCKTRNRY ICQFAQEHIS RWGPGS*

speed

1.30 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00277006357904059 (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)

chr16:69988472C>TN/A show variant in all transcripts IGV

HGNC symbol

CLEC18A

Ensembl transcript ID

ENST00000288040

Genbank transcript ID

NM_001136214

UniProt peptide

A5D8T8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.452C>T
cDNA.639C>T
g.3663C>T

AA changes

T151M Score: 81 explain score(s)

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

151

frameshift

known variant

Reference ID: rs75776403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	286	1020	1306
ExAC	3257	20698	23955

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.119	1
	2.543	0.998
(flanking)	-1.045	0.965

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	3666	sequence motif lost	-	wt: GCAG\|gtga mu: GCAG.gtga
Acc marginally increased	3663	wt: 0.8405 / mu: 0.8525 (marginal change - not scored)	wt: CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG mu: CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG	acac\|GCAG

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

no homologue

Mmulatta

all identical

ENSMMUG00000009424

151

Fcatus

all identical

ENSFCAG00000009480

152

Mmusculus

all identical

ENSMUSG00000033633

239

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000018145

105

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0038126

149

Celegans

not conserved

F48E8.1

176

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
52	182	DOMAIN	SCP.	lost
151	151	CONFLICT	T -> M (in Ref. 2; BAF82573 and 4; AAI41809).	lost
228	261	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
236	236	DISULFID	By similarity.	might get lost (downstream of altered splice site)
249	249	DISULFID	By similarity.	might get lost (downstream of altered splice site)
251	251	DISULFID	By similarity.	might get lost (downstream of altered splice site)
260	260	DISULFID	By similarity.	might get lost (downstream of altered splice site)
273	273	CONFLICT	F -> L (in Ref. 4; AAH78143).	might get lost (downstream of altered splice site)
306	433	DOMAIN	C-type lectin.	might get lost (downstream of altered splice site)
327	327	DISULFID	By similarity.	might get lost (downstream of altered splice site)
339	339	CONFLICT	S -> R (in Ref. 4; AAI41809).	might get lost (downstream of altered splice site)
401	402	CONFLICT	DN -> AT (in Ref. 4; AAH08616).	might get lost (downstream of altered splice site)
408	408	DISULFID	By similarity.	might get lost (downstream of altered splice site)
421	421	CONFLICT	D -> N (in Ref. 4; AAH78143).	might get lost (downstream of altered splice site)
424	424	DISULFID	By similarity.	might get lost (downstream of altered splice site)
432	432	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

1341 / 1341

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

447 / 447

position of stopcodon in wt / mu cDNA

1528 / 1528

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

188 / 188

chromosome

strand

last intron/exon boundary

1491

theoretical NMD boundary in CDS

1253

length of CDS

1341

coding sequence (CDS) position

452

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

639

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

3663

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

69988472

original gDNA sequence snippet

CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG

altered gDNA sequence snippet

CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG

original cDNA sequence snippet

CGCCACCTGCACCCACTACACGCAGCTCGTGTGGGCCACCT

altered cDNA sequence snippet

CGCCACCTGCACCCACTACATGCAGCTCGTGTGGGCCACCT

wildtype AA sequence

mutated AA sequence

MLHPETSPGR GHLLAVLLAL LGTAWAEVWP PQLQEQAPMA GALNRKESFL LLSLHNRLRS
WVQPPAADMR RLDWSDSLAQ LAQARAALCG TPTPSLASGL WRTLQVGWNM QLLPAGLVSF
VEVVSLWFAE GQRYSHAAGE CARNATCTHY MQLVWATSSQ LGCGRHLCSA GQAAIEAFVC
AYSPRGNWEV NGKTIVPYKK GAWCSLCTAS VSGCFKAWDH AGGLCEVPRN PCRMSCQNHG
RLNISTCHCH CPPGYTGRYC QVRCSLQCVH GRFREEECSC VCDIGYGGAQ CATKVHFPFH
TCDLRIDGDC FMVSSEADTY YRARMKCQRK GGVLAQIKSQ KVQDILAFYL GRLETTNEVI
DSDFETRNFW IGLTYKTAKD SFRWATGEHQ AFTSFAFGQP DNHGFGNCVE LQASAAFNWN
DQRCKTRNRY ICQFAQEHIS RWGPGS*

speed

0.95 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00277006357904059 (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)

chr16:69988472C>TN/A show variant in all transcripts IGV

HGNC symbol

CLEC18A

Ensembl transcript ID

ENST00000449317

Genbank transcript ID

N/A

UniProt peptide

A5D8T8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.452C>T
cDNA.586C>T
g.3663C>T

AA changes

T151M Score: 81 explain score(s)

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

151

frameshift

known variant

Reference ID: rs75776403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	286	1020	1306
ExAC	3257	20698	23955

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.119	1
	2.543	0.998
(flanking)	-1.045	0.965

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	3666	sequence motif lost	-	wt: GCAG\|gtga mu: GCAG.gtga
Acc marginally increased	3663	wt: 0.8405 / mu: 0.8525 (marginal change - not scored)	wt: CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG mu: CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG	acac\|GCAG

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

no homologue

Mmulatta

all identical

ENSMMUG00000009424

151

Fcatus

all identical

ENSFCAG00000009480

152

Mmusculus

all identical

ENSMUSG00000033633

239

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000018145

105

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0038126

149

Celegans

not conserved

F48E8.1

176

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
52	182	DOMAIN	SCP.	lost
151	151	CONFLICT	T -> M (in Ref. 2; BAF82573 and 4; AAI41809).	lost
228	261	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
236	236	DISULFID	By similarity.	might get lost (downstream of altered splice site)
249	249	DISULFID	By similarity.	might get lost (downstream of altered splice site)
251	251	DISULFID	By similarity.	might get lost (downstream of altered splice site)
260	260	DISULFID	By similarity.	might get lost (downstream of altered splice site)
273	273	CONFLICT	F -> L (in Ref. 4; AAH78143).	might get lost (downstream of altered splice site)
306	433	DOMAIN	C-type lectin.	might get lost (downstream of altered splice site)
327	327	DISULFID	By similarity.	might get lost (downstream of altered splice site)
339	339	CONFLICT	S -> R (in Ref. 4; AAI41809).	might get lost (downstream of altered splice site)
401	402	CONFLICT	DN -> AT (in Ref. 4; AAH08616).	might get lost (downstream of altered splice site)
408	408	DISULFID	By similarity.	might get lost (downstream of altered splice site)
421	421	CONFLICT	D -> N (in Ref. 4; AAH78143).	might get lost (downstream of altered splice site)
424	424	DISULFID	By similarity.	might get lost (downstream of altered splice site)
432	432	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

1368 / 1368

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

456 / 456

position of stopcodon in wt / mu cDNA

1502 / 1502

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

135 / 135

chromosome

strand

last intron/exon boundary

1465

theoretical NMD boundary in CDS

1280

length of CDS

1368

coding sequence (CDS) position

452

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

586

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

3663

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

69988472

original gDNA sequence snippet

CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG

altered gDNA sequence snippet

CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG

original cDNA sequence snippet

CGCCACCTGCACCCACTACACGCAGCTCGTGTGGGCCACCT

altered cDNA sequence snippet

CGCCACCTGCACCCACTACATGCAGCTCGTGTGGGCCACCT

wildtype AA sequence

mutated AA sequence

MLHPETSPGR GHLLAVLLAL LGTAWAEVWP PQLQEQAPMA GALNRKESFL LLSLHNRLRS
WVQPPAADMR RLDWSDSLAQ LAQARAALCG TPTPSLASGL WRTLQVGWNM QLLPAGLVSF
VEVVSLWFAE GQRYSHAAGE CARNATCTHY MQLVWATSSQ LGCGRHLCSA GQAAIEAFVC
AYSPRGNWEV NGKTIVPYKK GAWCSLCTAS VSGCFKAWDH AGGLCEVPRN PCRMSCQNHG
RLNISTCHCH CPPGYTGRYC QVRCSLQCVH GRFREEECSC VCDIGYGGAQ CATKVHFPFH
TCDLRIDGDC FMVSSEADTY YRARMKCQRK GGVLAQIKSQ KVQDILAFYL GRLETTNEVI
DSDFETRNFW IGLTYKTAKD SFRWATGEHQ AFTSFAFGQP DNHGLVWLSA AMGFGNCVEL
QASAAFNWND QRCKTRNRYI CQFAQEHISR WGPGS*

speed

0.50 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