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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000278979
Querying Taster for transcript #2: ENST00000398084
Querying Taster for transcript #3: ENST00000339738
Querying Taster for transcript #4: ENST00000486996
Querying Taster for transcript #5: ENST00000375966
Querying Taster for transcript #6: ENST00000398083
MT speed 0 s - this script 5.009402 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DUSP15	polymorphism_automatic	2.03898039796702e-06	simple_aae		affected		V197L	single base exchange	rs947310		show file
DUSP15	polymorphism_automatic	2.03898039796702e-06	simple_aae		affected		V194L	single base exchange	rs947310		show file
DUSP15	polymorphism_automatic	2.06351586750086e-05	simple_aae		affected		V94L	single base exchange	rs947310		show file
DUSP15	polymorphism_automatic	2.06351586750086e-05	simple_aae		affected		V94L	single base exchange	rs947310		show file
DUSP15	polymorphism_automatic	2.06351586750086e-05	simple_aae		affected		V94L	single base exchange	rs947310		show file
DUSP15	polymorphism_automatic	0.999999999993859	without_aae		affected			single base exchange	rs947310		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997961019602 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:30449325C>GN/A show variant in all transcripts IGV

HGNC symbol

DUSP15

Ensembl transcript ID

ENST00000339738

Genbank transcript ID

NM_080611

UniProt peptide

Q9H1R2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.589G>C
cDNA.999G>C
g.9226G>C

AA changes

V197L Score: 32 explain score(s)

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

197

frameshift

known variant

Reference ID: rs947310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	523	721	1244
ExAC	1369	4032	5401

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.515	1
	-0.028	0.997
(flanking)	1.497	1

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	9218	wt: 0.9472 / mu: 0.9742 (marginal change - not scored)	wt: CTCCGAGGGAACCGT mu: CTCCGAGGGAACCCT	CCGA\|ggga
Donor increased	9227	wt: 0.87 / mu: 0.97	wt: AACCGTGCAGCGCCT mu: AACCCTGCAGCGCCT	CCGT\|gcag

distance from splice site

154

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

197

mutated

all conserved

197

Ptroglodytes

all conserved

ENSPTRG00000013364

197

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042662

197

Ggallus

not conserved

ENSGALG00000021017

193

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0036369

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

708 / 708

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

236 / 236

position of stopcodon in wt / mu cDNA

1118 / 1118

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

411 / 411

chromosome

strand

-1

last intron/exon boundary

846

theoretical NMD boundary in CDS

385

length of CDS

708

coding sequence (CDS) position

589

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

999

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

9226

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

30449325

original gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

original cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

wildtype AA sequence

MGNGMTKVLP GLYLGNFIDA KDLDQLGRNK ITHIISIHES PQPLLQDITY LRIPVADTPE
VPIKKHFKEC INFIHCCRLN GGNCLVHCFA GISRSTTIVT AYVMTVTGLG WRDVLEAIKA
TRPIANPNPG FRQQLEEFGW ASSQKLRRQL EERFGESPFR DEEELRALLP LCKRCRQGSA
TSASSAGPHS AASEGTVQRL VPRTPREAHR PLPLLARVKQ TFSCLPRCLS RKGGK*

mutated AA sequence

speed

0.65 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: 0.999997961019602 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:30449325C>GN/A show variant in all transcripts IGV

HGNC symbol

DUSP15

Ensembl transcript ID

ENST00000375966

Genbank transcript ID

N/A

UniProt peptide

Q9H1R2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.580G>C
cDNA.622G>C
g.9226G>C

AA changes

V194L Score: 32 explain score(s)

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

194

frameshift

known variant

Reference ID: rs947310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	523	721	1244
ExAC	1369	4032	5401

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.515	1
	-0.028	0.997
(flanking)	1.497	1

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	9218	wt: 0.9472 / mu: 0.9742 (marginal change - not scored)	wt: CTCCGAGGGAACCGT mu: CTCCGAGGGAACCCT	CCGA\|ggga
Donor increased	9227	wt: 0.87 / mu: 0.97	wt: AACCGTGCAGCGCCT mu: AACCCTGCAGCGCCT	CCGT\|gcag

distance from splice site

154

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

194

mutated

all conserved

194

Ptroglodytes

all conserved

ENSPTRG00000013364

197

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042662

197

Ggallus

not conserved

ENSGALG00000021017

189

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0036369

n/a

Celegans

no homologue

Xtropicalis

no homologue

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

741 / 741

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

43 / 43

chromosome

strand

-1

last intron/exon boundary

469

theoretical NMD boundary in CDS

376

length of CDS

699

coding sequence (CDS) position

580

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

622

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

9226

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

30449325

original gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

original cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

wildtype AA sequence

MTEGVLPGLY LGNFIDAKDL DQLGRNKITH IISIHESPQP LLQDITYLRI PVADTPEVPI
KKHFKECINF IHCCRLNGGN CLVHCFAGIS RSTTIVTAYV MTVTGLGWRD VLEAIKATRP
IANPNPGFRQ QLEEFGWASS QKLRRQLEER FGESPFRDEE ELRALLPLCK RCRQGSATSA
SSAGPHSAAS EGTVQRLVPR TPREAHRPLP LLARVKQTFS CLPRCLSRKG GK*

mutated AA sequence

speed

1.10 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999979364841325 (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)

chr20:30449325C>GN/A show variant in all transcripts IGV

HGNC symbol

DUSP15

Ensembl transcript ID

ENST00000486996

Genbank transcript ID

N/A

UniProt peptide

Q9H1R2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.280G>C
cDNA.1196G>C
g.9226G>C

AA changes

V94L Score: 32 explain score(s)

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

frameshift

known variant

Reference ID: rs947310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	523	721	1244
ExAC	1369	4032	5401

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.515	1
	-0.028	0.997
(flanking)	1.497	1

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	9218	wt: 0.9472 / mu: 0.9742 (marginal change - not scored)	wt: CTCCGAGGGAACCGT mu: CTCCGAGGGAACCCT	CCGA\|ggga
Donor increased	9227	wt: 0.87 / mu: 0.97	wt: AACCGTGCAGCGCCT mu: AACCCTGCAGCGCCT	CCGT\|gcag

distance from splice site

154

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000013364

197

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042662

197

Ggallus

not conserved

ENSGALG00000021017

197

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0036369

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
62	132	DOMAIN	Tyrosine-protein phosphatase.	lost
91	104	HELIX		lost
108	117	HELIX		might get lost (downstream of altered splice site)
126	137	HELIX		might get lost (downstream of altered splice site)
139	142	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

399 / 399

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

133 / 133

position of stopcodon in wt / mu cDNA

1315 / 1315

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

917 / 917

chromosome

strand

-1

last intron/exon boundary

1043

theoretical NMD boundary in CDS

length of CDS

399

coding sequence (CDS) position

280

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

1196

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

9226

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

30449325

original gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

original cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

wildtype AA sequence

MTVTGLGWRD VLEAIKATRP IANPNPGFRQ QLEEFGWASS QKLRRQLEER FGESPFRDEE
ELRALLPLCK RCRQGSATSA SSAGPHSAAS EGTVQRLVPR TPREAHRPLP LLARVKQTFS
CLPRCLSRKG GK*

mutated AA sequence

MTVTGLGWRD VLEAIKATRP IANPNPGFRQ QLEEFGWASS QKLRRQLEER FGESPFRDEE
ELRALLPLCK RCRQGSATSA SSAGPHSAAS EGTLQRLVPR TPREAHRPLP LLARVKQTFS
CLPRCLSRKG GK*

speed

1.09 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999979364841325 (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)

chr20:30449325C>GN/A show variant in all transcripts IGV

HGNC symbol

DUSP15

Ensembl transcript ID

ENST00000398084

Genbank transcript ID

NM_177991

UniProt peptide

Q9H1R2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.280G>C
cDNA.801G>C
g.9226G>C

AA changes

V94L Score: 32 explain score(s)

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

frameshift

known variant

Reference ID: rs947310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	523	721	1244
ExAC	1369	4032	5401

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.515	1
	-0.028	0.997
(flanking)	1.497	1

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	9218	wt: 0.9472 / mu: 0.9742 (marginal change - not scored)	wt: CTCCGAGGGAACCGT mu: CTCCGAGGGAACCCT	CCGA\|ggga
Donor increased	9227	wt: 0.87 / mu: 0.97	wt: AACCGTGCAGCGCCT mu: AACCCTGCAGCGCCT	CCGT\|gcag

distance from splice site

154

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000013364

197

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042662

197

Ggallus

not conserved

ENSGALG00000021017

197

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0036369

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
62	132	DOMAIN	Tyrosine-protein phosphatase.	lost
91	104	HELIX		lost
108	117	HELIX		might get lost (downstream of altered splice site)
126	137	HELIX		might get lost (downstream of altered splice site)
139	142	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

399 / 399

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

133 / 133

position of stopcodon in wt / mu cDNA

920 / 920

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

522 / 522

chromosome

strand

-1

last intron/exon boundary

648

theoretical NMD boundary in CDS

length of CDS

399

coding sequence (CDS) position

280

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

801

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

9226

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

30449325

original gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

original cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

wildtype AA sequence

MTVTGLGWRD VLEAIKATRP IANPNPGFRQ QLEEFGWASS QKLRRQLEER FGESPFRDEE
ELRALLPLCK RCRQGSATSA SSAGPHSAAS EGTVQRLVPR TPREAHRPLP LLARVKQTFS
CLPRCLSRKG GK*

mutated AA sequence

MTVTGLGWRD VLEAIKATRP IANPNPGFRQ QLEEFGWASS QKLRRQLEER FGESPFRDEE
ELRALLPLCK RCRQGSATSA SSAGPHSAAS EGTLQRLVPR TPREAHRPLP LLARVKQTFS
CLPRCLSRKG GK*

speed

1.01 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999979364841325 (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)

chr20:30449325C>GN/A show variant in all transcripts IGV

HGNC symbol

DUSP15

Ensembl transcript ID

ENST00000398083

Genbank transcript ID

NM_001012644

UniProt peptide

Q9H1R2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.280G>C
cDNA.757G>C
g.9226G>C

AA changes

V94L Score: 32 explain score(s)

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

frameshift

known variant

Reference ID: rs947310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	523	721	1244
ExAC	1369	4032	5401

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.515	1
	-0.028	0.997
(flanking)	1.497	1

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	9218	wt: 0.9472 / mu: 0.9742 (marginal change - not scored)	wt: CTCCGAGGGAACCGT mu: CTCCGAGGGAACCCT	CCGA\|ggga
Donor increased	9227	wt: 0.87 / mu: 0.97	wt: AACCGTGCAGCGCCT mu: AACCCTGCAGCGCCT	CCGT\|gcag

distance from splice site

154

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000013364

197

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042662

197

Ggallus

not conserved

ENSGALG00000021017

197

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0036369

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
62	132	DOMAIN	Tyrosine-protein phosphatase.	lost
91	104	HELIX		lost
108	117	HELIX		might get lost (downstream of altered splice site)
126	137	HELIX		might get lost (downstream of altered splice site)
139	142	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

399 / 399

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

133 / 133

position of stopcodon in wt / mu cDNA

876 / 876

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

478 / 478

chromosome

strand

-1

last intron/exon boundary

604

theoretical NMD boundary in CDS

length of CDS

399

coding sequence (CDS) position

280

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

757

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

9226

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

30449325

original gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

original cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered cDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

wildtype AA sequence

MTVTGLGWRD VLEAIKATRP IANPNPGFRQ QLEEFGWASS QKLRRQLEER FGESPFRDEE
ELRALLPLCK RCRQGSATSA SSAGPHSAAS EGTVQRLVPR TPREAHRPLP LLARVKQTFS
CLPRCLSRKG GK*

mutated AA sequence

MTVTGLGWRD VLEAIKATRP IANPNPGFRQ QLEEFGWASS QKLRRQLEER FGESPFRDEE
ELRALLPLCK RCRQGSATSA SSAGPHSAAS EGTLQRLVPR TPREAHRPLP LLARVKQTFS
CLPRCLSRKG GK*

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 6.14126284710194e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr20:30449325C>GN/A show variant in all transcripts IGV

HGNC symbol

DUSP15

Ensembl transcript ID

ENST00000278979

Genbank transcript ID

N/A

UniProt peptide

Q9H1R2

alteration type

single base exchange

alteration region

intron

DNA changes

g.9226G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs947310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	523	721	1244
ExAC	1369	4032	5401

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.515	1
	-0.028	0.997
(flanking)	1.497	1

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	9218	wt: 0.9472 / mu: 0.9742 (marginal change - not scored)	wt: CTCCGAGGGAACCGT mu: CTCCGAGGGAACCCT	CCGA\|ggga
Donor increased	9227	wt: 0.87 / mu: 0.97	wt: AACCGTGCAGCGCCT mu: AACCCTGCAGCGCCT	CCGT\|gcag

distance from splice site

1049

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
139	142	HELIX		might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

78 / 78

chromosome

strand

-1

last intron/exon boundary

804

theoretical NMD boundary in CDS

676

length of CDS

888

coding sequence (CDS) position

N/A

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

N/A

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

9226

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

30449325

original gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTEGVLPGLY LGNFIDAKDL DQLGRNKITH IISIHESPQP LLQDITYLRI PVADTPEVPI
KKHFKECINF IHCCRLNGGN CLVHCFAGIS RSTTIVTAYV MTVTGLGWRD VLEAIKATRP
IANPNPGFRQ QLEEFGWASS QKGARHRTSK TSGAQCPPMT SATCLLAARV ALLSAALVRE
ATGRTAQRCR LSPRAAAERL LGPPPHVAAG WSPDPKYQIC LCFGEEDPGP TQHPKEQLIM
ADVQVQLRPG SSSCTLSAST ERPDGSSTPG NPDGITHLQC SCLHPKRAAS SSCTR*

mutated AA sequence

N/A

speed

0.81 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

mutation t@sting

Prediction

polymorphism

Problems