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: ENST00000286749
Querying Taster for transcript #2: ENST00000537624
Querying Taster for transcript #3: ENST00000537216
Querying Taster for transcript #4: ENST00000538177
Querying Taster for transcript #5: ENST00000394573
Querying Taster for transcript #6: ENST00000537703
MT speed 0 s - this script 5.649783 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SLC28A1	polymorphism_automatic	0.999994884474953	simple_aae		affected		Q237K	single base exchange	rs8187758		show file
SLC28A1	polymorphism_automatic	0.999994884474953	simple_aae		affected		Q237K	single base exchange	rs8187758		show file
SLC28A1	polymorphism_automatic	0.999994884474953	simple_aae		affected		Q237K	single base exchange	rs8187758		show file
SLC28A1	polymorphism_automatic	0.999994884474953	simple_aae		affected		Q237K	single base exchange	rs8187758		show file
SLC28A1	polymorphism_automatic	0.999994884474953	simple_aae		affected		Q237K	single base exchange	rs8187758		show file
SLC28A1	polymorphism_automatic	0.999997716507322	simple_aae		affected		Q159K	single base exchange	rs8187758		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 5.11552504718527e-06 (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)

chr15:85448875C>AN/A show variant in all transcripts IGV

HGNC symbol

SLC28A1

Ensembl transcript ID

ENST00000286749

Genbank transcript ID

N/A

UniProt peptide

O00337

alteration type

single base exchange

alteration region

CDS

DNA changes

c.709C>A
cDNA.799C>A
g.20991C>A

AA changes

Q237K Score: 53 explain score(s)

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

237

frameshift

known variant

Reference ID: rs8187758

database	homozygous (A/A)	heterozygous	allele carriers
1000G	254	997	1251
ExAC	5161	22445	27606

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.572
	3.518	0.995
(flanking)	2.923	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 increased	20994	wt: 0.51 / mu: 0.59	wt: AGCAGATCCGGGTAG mu: AGAAGATCCGGGTAG	CAGA\|tccg
Donor gained	20987	1.00	mu: CTGGGCGAGAAGATC	GGGC\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

237

mutated

all conserved

237

Ptroglodytes

all identical

ENSPTRG00000007407

237

Mmulatta

all identical

ENSMMUG00000016772

237

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025726

237

Ggallus

all identical

ENSGALG00000002522

231

Trubripes

all identical

ENSTRUG00000003627

187

Drerio

all identical

ENSDARG00000060879

234

Dmelanogaster

all conserved

FBgn0025709

238

Celegans

not conserved

F27E11.2

205

Xtropicalis

all identical

ENSXETG00000009806

216

protein features

start (aa)	end (aa)	feature	details
261	281	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
361	381	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
428	448	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
532	552	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
572	592	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
609	612	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1950 / 1950

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

650 / 650

position of stopcodon in wt / mu cDNA

2040 / 2040

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

91 / 91

chromosome

strand

last intron/exon boundary

1965

theoretical NMD boundary in CDS

1824

length of CDS

1950

coding sequence (CDS) position

709

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

799

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

20991

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

85448875

original gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGGTAGGTATGTGG

altered gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGGTAGGTATGTGG

original cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGATCTTCCTGAGC

altered cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGATCTTCCTGAGC

wildtype AA sequence

MENDPSRRRE SISLTPVAKG LENMGADFLE SLEEGQLPRS DLSPAEIRSS WSEAAPKPFS
RWRNLQPALR ARSFCREHMQ LFRWIGTGLL CTGLSAFLLV ACLLDFQRAL ALFVLTCVVL
TFLGHRLLKR LLGPKLRRFL KPQGHPRLLL WFKRGLALAA FLGLVLWLSL DTSQRPEQLV
SFAGICVFVA LLFACSKHHC AVSWRAVSWG LGLQFVLGLL VIRTEPGFIA FEWLGEQIRI
FLSYTKAGSS FVFGEALVKD VFAFQVLPII VFFSCVISVL YHVGLMQWVI LKIAWLMQVT
MGTTATETLS VAGNIFVSQT EAPLLIRPYL ADMTLSEVHV VMTGGYATIA GSLLGAYISF
GIDATSLIAA SVMAAPCALA LSKLVYPEVE ESKFRREEGV KLTYGDAQNL IEAASTGAAI
SVKVVANIAA NLIAFLAVLD FINAALSWLG DMVDIQGLSF QLICSYILRP VAFLMGVAWE
DCPVVAELLG IKLFLNEFVA YQDLSKYKQR RLAGAEEWVG DRKQWISVRA EVLTTFALCG
FANFSSIGIM LGGLTSMVPQ RKSDFSQIVL RALFTGACVS LVNACMAGIL YMPRGAEVDC
MSLLNTTLSS SSFEIYQCCR EAFQSVNPEF SPEALDNCCR FYNHTICAQ*

mutated AA sequence

MENDPSRRRE SISLTPVAKG LENMGADFLE SLEEGQLPRS DLSPAEIRSS WSEAAPKPFS
RWRNLQPALR ARSFCREHMQ LFRWIGTGLL CTGLSAFLLV ACLLDFQRAL ALFVLTCVVL
TFLGHRLLKR LLGPKLRRFL KPQGHPRLLL WFKRGLALAA FLGLVLWLSL DTSQRPEQLV
SFAGICVFVA LLFACSKHHC AVSWRAVSWG LGLQFVLGLL VIRTEPGFIA FEWLGEKIRI
FLSYTKAGSS FVFGEALVKD VFAFQVLPII VFFSCVISVL YHVGLMQWVI LKIAWLMQVT
MGTTATETLS VAGNIFVSQT EAPLLIRPYL ADMTLSEVHV VMTGGYATIA GSLLGAYISF
GIDATSLIAA SVMAAPCALA LSKLVYPEVE ESKFRREEGV KLTYGDAQNL IEAASTGAAI
SVKVVANIAA NLIAFLAVLD FINAALSWLG DMVDIQGLSF QLICSYILRP VAFLMGVAWE
DCPVVAELLG IKLFLNEFVA YQDLSKYKQR RLAGAEEWVG DRKQWISVRA EVLTTFALCG
FANFSSIGIM LGGLTSMVPQ RKSDFSQIVL RALFTGACVS LVNACMAGIL YMPRGAEVDC
MSLLNTTLSS SSFEIYQCCR EAFQSVNPEF SPEALDNCCR FYNHTICAQ*

speed

1.12 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: 5.11552504718527e-06 (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)

chr15:85448875C>AN/A show variant in all transcripts IGV

HGNC symbol

SLC28A1

Ensembl transcript ID

ENST00000537624

Genbank transcript ID

N/A

UniProt peptide

O00337

alteration type

single base exchange

alteration region

CDS

DNA changes

c.709C>A
cDNA.931C>A
g.20991C>A

AA changes

Q237K Score: 53 explain score(s)

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

237

frameshift

known variant

Reference ID: rs8187758

database	homozygous (A/A)	heterozygous	allele carriers
1000G	254	997	1251
ExAC	5161	22445	27606

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.572
	3.518	0.995
(flanking)	2.923	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 increased	20994	wt: 0.51 / mu: 0.59	wt: AGCAGATCCGGGTAG mu: AGAAGATCCGGGTAG	CAGA\|tccg
Donor gained	20987	1.00	mu: CTGGGCGAGAAGATC	GGGC\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

237

mutated

all conserved

237

Ptroglodytes

all identical

ENSPTRG00000007407

237

Mmulatta

all identical

ENSMMUG00000016772

237

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025726

237

Ggallus

all identical

ENSGALG00000002522

231

Trubripes

all identical

ENSTRUG00000003627

187

Drerio

all identical

ENSDARG00000060879

234

Dmelanogaster

all conserved

FBgn0025709

238

Celegans

not conserved

F27E11.2

205

Xtropicalis

all identical

ENSXETG00000009806

216

protein features

start (aa)	end (aa)	feature	details
261	281	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
361	381	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
428	448	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
532	552	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
572	592	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
609	612	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1911 / 1911

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

637 / 637

position of stopcodon in wt / mu cDNA

2133 / 2133

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

223 / 223

chromosome

strand

last intron/exon boundary

2097

theoretical NMD boundary in CDS

1824

length of CDS

1911

coding sequence (CDS) position

709

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

931

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

20991

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

85448875

original gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGGTAGGTATGTGG

altered gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGGTAGGTATGTGG

original cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGATCTTCCTGAGC

altered cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGATCTTCCTGAGC

wildtype AA sequence

mutated AA sequence

MENDPSRRRE SISLTPVAKG LENMGADFLE SLEEGQLPRS DLSPAEIRSS WSEAAPKPFS
RWRNLQPALR ARSFCREHMQ LFRWIGTGLL CTGLSAFLLV ACLLDFQRAL ALFVLTCVVL
TFLGHRLLKR LLGPKLRRFL KPQGHPRLLL WFKRGLALAA FLGLVLWLSL DTSQRPEQLV
SFAGICVFVA LLFACSKHHC AVSWRAVSWG LGLQFVLGLL VIRTEPGFIA FEWLGEKIRI
FLSYTKAGSS FVFGEALVKD VFAFQVLPII VFFSCVISVL YHVGLMQWVI LKIAWLMQVT
MGTTATETLS VAGNIFVSQT EAPLLIRPYL ADMTLSEVHV VMTGGYATIA GSLLGAYISF
GIDATSLIAA SVMAAPCALA LSKLVYPEVE ESKFRREEGV KLTYGDAQNL IEAASTGAAI
SVKVVANIAA NLIAFLAVLD FINAALSWLG DMVDIQGLSF QLICSYILRP VAFLMGVAWE
DCPVVAELLG IKLFLNEFVA YQDLSKYKQR RLAGAEEWVG DRKQWISVRA EVLTTFALCG
FANFSSIGIM LGGLTSMVPQ RKSDFSQIVL RALFTGACVS LVNACMAGIL YMPRGAEVDC
MSLLNTTLSS SSFEIYQCCR EAFQRIFKST PAESQP*

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 5.11552504718527e-06 (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)

chr15:85448875C>AN/A show variant in all transcripts IGV

HGNC symbol

SLC28A1

Ensembl transcript ID

ENST00000537216

Genbank transcript ID

N/A

UniProt peptide

O00337

alteration type

single base exchange

alteration region

CDS

DNA changes

c.709C>A
cDNA.932C>A
g.20991C>A

AA changes

Q237K Score: 53 explain score(s)

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

237

frameshift

known variant

Reference ID: rs8187758

database	homozygous (A/A)	heterozygous	allele carriers
1000G	254	997	1251
ExAC	5161	22445	27606

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.572
	3.518	0.995
(flanking)	2.923	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 increased	20994	wt: 0.51 / mu: 0.59	wt: AGCAGATCCGGGTAG mu: AGAAGATCCGGGTAG	CAGA\|tccg
Donor gained	20987	1.00	mu: CTGGGCGAGAAGATC	GGGC\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

237

mutated

all conserved

237

Ptroglodytes

all identical

ENSPTRG00000007407

237

Mmulatta

all identical

ENSMMUG00000016772

237

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025726

237

Ggallus

all identical

ENSGALG00000002522

231

Trubripes

all identical

ENSTRUG00000003627

187

Drerio

all identical

ENSDARG00000060879

234

Dmelanogaster

all conserved

FBgn0025709

238

Celegans

not conserved

F27E11.2

205

Xtropicalis

all identical

ENSXETG00000009806

216

protein features

start (aa)	end (aa)	feature	details
261	281	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
361	381	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
428	448	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
532	552	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
572	592	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
609	612	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1632 / 1632

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

544 / 544

position of stopcodon in wt / mu cDNA

1855 / 1855

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

224 / 224

chromosome

strand

last intron/exon boundary

1898

theoretical NMD boundary in CDS

1624

length of CDS

1632

coding sequence (CDS) position

709

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

932

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

20991

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

85448875

original gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGGTAGGTATGTGG

altered gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGGTAGGTATGTGG

original cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGATCTTCCTGAGC

altered cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGATCTTCCTGAGC

wildtype AA sequence

mutated AA sequence

MENDPSRRRE SISLTPVAKG LENMGADFLE SLEEGQLPRS DLSPAEIRSS WSEAAPKPFS
RWRNLQPALR ARSFCREHMQ LFRWIGTGLL CTGLSAFLLV ACLLDFQRAL ALFVLTCVVL
TFLGHRLLKR LLGPKLRRFL KPQGHPRLLL WFKRGLALAA FLGLVLWLSL DTSQRPEQLV
SFAGICVFVA LLFACSKHHC AVSWRAVSWG LGLQFVLGLL VIRTEPGFIA FEWLGEKIRI
FLSYTKAGSS FVFGEALVKD VFAFQVLPII VFFSCVISVL YHVGLMQWVI LKIAWLMQVT
MGTTATETLS VAGNIFVSQT EAPLLIRPYL ADMTLSEVHV VMTGGYATIA GSLLGAYISF
GIDATSLIAA SVMAAPCALA LSKLVYPEVE ESKFRREEGV KLTYGDAQNL IEAASTGAAI
SVKVVANIAA NLIAFLAVLD FINAALSWLG DMVDIQGLSF QLICSYILRP VAFLMGVAWE
DCPVVAELLG IKLFLNEFVA YQDLSKYKQR RLAGAEEWVG DRKQWISRRG LAMLTRLVLN
SWP*

speed

1.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 5.11552504718527e-06 (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)

chr15:85448875C>AN/A show variant in all transcripts IGV

HGNC symbol

SLC28A1

Ensembl transcript ID

ENST00000538177

Genbank transcript ID

N/A

UniProt peptide

O00337

alteration type

single base exchange

alteration region

CDS

DNA changes

c.709C>A
cDNA.816C>A
g.20991C>A

AA changes

Q237K Score: 53 explain score(s)

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

237

frameshift

known variant

Reference ID: rs8187758

database	homozygous (A/A)	heterozygous	allele carriers
1000G	254	997	1251
ExAC	5161	22445	27606

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.572
	3.518	0.995
(flanking)	2.923	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 increased	20994	wt: 0.51 / mu: 0.59	wt: AGCAGATCCGGGTAG mu: AGAAGATCCGGGTAG	CAGA\|tccg
Donor gained	20987	1.00	mu: CTGGGCGAGAAGATC	GGGC\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

237

mutated

all conserved

237

Ptroglodytes

all identical

ENSPTRG00000007407

237

Mmulatta

all identical

ENSMMUG00000016772

237

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025726

237

Ggallus

all identical

ENSGALG00000002522

231

Trubripes

all identical

ENSTRUG00000003627

187

Drerio

all identical

ENSDARG00000060879

234

Dmelanogaster

all conserved

FBgn0025709

238

Celegans

not conserved

F27E11.2

205

Xtropicalis

all identical

ENSXETG00000009806

216

protein features

start (aa)	end (aa)	feature	details
261	281	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
361	381	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
428	448	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
532	552	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
572	592	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
609	612	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1452 / 1452

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

484 / 484

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

108 / 108

chromosome

strand

last intron/exon boundary

1484

theoretical NMD boundary in CDS

1326

length of CDS

1452

coding sequence (CDS) position

709

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

816

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

20991

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

85448875

original gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGGTAGGTATGTGG

altered gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGGTAGGTATGTGG

original cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGATCTTCCTGAGC

altered cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGATCTTCCTGAGC

wildtype AA sequence

MENDPSRRRE SISLTPVAKG LENMGADFLE SLEEGQLPRS DLSPAEIRSS WSEAAPKPFS
RWRNLQPALR ARSFCREHMQ LFRWIGTGLL CTGLSAFLLV ACLLDFQRAL ALFVLTCVVL
TFLGHRLLKR LLGPKLRRFL KPQGHPRLLL WFKRGLALAA FLGLVLWLSL DTSQRPEQLV
SFAGICVFVA LLFACSKHHC AVSWRAVSWG LGLQFVLGLL VIRTEPGFIA FEWLGEQIRI
FLSYTKAGSS FVFGEALVKD VFAFQVLPII VFFSCVISVL YHVGLMQWVI LKIAWLMQVT
MGTTATETLS VAGNIFVSQT EAPLLIRPYL ADMTLSEVHV VMTGGYATIA GSLLGAYISF
GVRAEVLTTF ALCGFANFSS IGIMLGGLTS MVPQRKSDFS QIVLRALFTG ACVSLVNACM
AGILYMPRGA EVDCMSLLNT TLSSSSFEIY QCCREAFQSV NPEFSPEALD NCCRFYNHTI
CAQ*

mutated AA sequence

MENDPSRRRE SISLTPVAKG LENMGADFLE SLEEGQLPRS DLSPAEIRSS WSEAAPKPFS
RWRNLQPALR ARSFCREHMQ LFRWIGTGLL CTGLSAFLLV ACLLDFQRAL ALFVLTCVVL
TFLGHRLLKR LLGPKLRRFL KPQGHPRLLL WFKRGLALAA FLGLVLWLSL DTSQRPEQLV
SFAGICVFVA LLFACSKHHC AVSWRAVSWG LGLQFVLGLL VIRTEPGFIA FEWLGEKIRI
FLSYTKAGSS FVFGEALVKD VFAFQVLPII VFFSCVISVL YHVGLMQWVI LKIAWLMQVT
MGTTATETLS VAGNIFVSQT EAPLLIRPYL ADMTLSEVHV VMTGGYATIA GSLLGAYISF
GVRAEVLTTF ALCGFANFSS IGIMLGGLTS MVPQRKSDFS QIVLRALFTG ACVSLVNACM
AGILYMPRGA EVDCMSLLNT TLSSSSFEIY QCCREAFQSV NPEFSPEALD NCCRFYNHTI
CAQ*

speed

1.33 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 5.11552504718527e-06 (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)

chr15:85448875C>AN/A show variant in all transcripts IGV

HGNC symbol

SLC28A1

Ensembl transcript ID

ENST00000394573

Genbank transcript ID

NM_004213

UniProt peptide

O00337

alteration type

single base exchange

alteration region

CDS

DNA changes

c.709C>A
cDNA.911C>A
g.20991C>A

AA changes

Q237K Score: 53 explain score(s)

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

237

frameshift

known variant

Reference ID: rs8187758

database	homozygous (A/A)	heterozygous	allele carriers
1000G	254	997	1251
ExAC	5161	22445	27606

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.572
	3.518	0.995
(flanking)	2.923	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 increased	20994	wt: 0.51 / mu: 0.59	wt: AGCAGATCCGGGTAG mu: AGAAGATCCGGGTAG	CAGA\|tccg
Donor gained	20987	1.00	mu: CTGGGCGAGAAGATC	GGGC\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

237

mutated

all conserved

237

Ptroglodytes

all identical

ENSPTRG00000007407

237

Mmulatta

all identical

ENSMMUG00000016772

237

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025726

237

Ggallus

all identical

ENSGALG00000002522

231

Trubripes

all identical

ENSTRUG00000003627

187

Drerio

all identical

ENSDARG00000060879

234

Dmelanogaster

all conserved

FBgn0025709

238

Celegans

not conserved

F27E11.2

205

Xtropicalis

all identical

ENSXETG00000009806

216

protein features

start (aa)	end (aa)	feature	details
261	281	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
361	381	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
428	448	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
532	552	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
572	592	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
609	612	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1950 / 1950

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

650 / 650

position of stopcodon in wt / mu cDNA

2152 / 2152

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

203 / 203

chromosome

strand

last intron/exon boundary

2077

theoretical NMD boundary in CDS

1824

length of CDS

1950

coding sequence (CDS) position

709

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

911

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

20991

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

85448875

original gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGGTAGGTATGTGG

altered gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGGTAGGTATGTGG

original cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGATCTTCCTGAGC

altered cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGATCTTCCTGAGC

wildtype AA sequence

mutated AA sequence

MENDPSRRRE SISLTPVAKG LENMGADFLE SLEEGQLPRS DLSPAEIRSS WSEAAPKPFS
RWRNLQPALR ARSFCREHMQ LFRWIGTGLL CTGLSAFLLV ACLLDFQRAL ALFVLTCVVL
TFLGHRLLKR LLGPKLRRFL KPQGHPRLLL WFKRGLALAA FLGLVLWLSL DTSQRPEQLV
SFAGICVFVA LLFACSKHHC AVSWRAVSWG LGLQFVLGLL VIRTEPGFIA FEWLGEKIRI
FLSYTKAGSS FVFGEALVKD VFAFQVLPII VFFSCVISVL YHVGLMQWVI LKIAWLMQVT
MGTTATETLS VAGNIFVSQT EAPLLIRPYL ADMTLSEVHV VMTGGYATIA GSLLGAYISF
GIDATSLIAA SVMAAPCALA LSKLVYPEVE ESKFRREEGV KLTYGDAQNL IEAASTGAAI
SVKVVANIAA NLIAFLAVLD FINAALSWLG DMVDIQGLSF QLICSYILRP VAFLMGVAWE
DCPVVAELLG IKLFLNEFVA YQDLSKYKQR RLAGAEEWVG DRKQWISVRA EVLTTFALCG
FANFSSIGIM LGGLTSMVPQ RKSDFSQIVL RALFTGACVS LVNACMAGIL YMPRGAEVDC
MSLLNTTLSS SSFEIYQCCR EAFQSVNPEF SPEALDNCCR FYNHTICAQ*

speed

1.24 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.28349267780844e-06 (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)

chr15:85448875C>AN/A show variant in all transcripts IGV

HGNC symbol

SLC28A1

Ensembl transcript ID

ENST00000537703

Genbank transcript ID

N/A

UniProt peptide

O00337

alteration type

single base exchange

alteration region

CDS

DNA changes

c.475C>A
cDNA.911C>A
g.20991C>A

AA changes

Q159K Score: 53 explain score(s)

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

159

frameshift

known variant

Reference ID: rs8187758

database	homozygous (A/A)	heterozygous	allele carriers
1000G	254	997	1251
ExAC	5161	22445	27606

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.572
	3.518	0.995
(flanking)	2.923	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 increased	20994	wt: 0.51 / mu: 0.59	wt: AGCAGATCCGGGTAG mu: AGAAGATCCGGGTAG	CAGA\|tccg
Donor gained	20987	1.00	mu: CTGGGCGAGAAGATC	GGGC\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

159

mutated

all conserved

159

Ptroglodytes

all identical

ENSPTRG00000007407

237

Mmulatta

all identical

ENSMMUG00000016772

237

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025726

237

Ggallus

all identical

ENSGALG00000002522

231

Trubripes

all identical

ENSTRUG00000003627

187

Drerio

all identical

ENSDARG00000060879

234

Dmelanogaster

all conserved

FBgn0025709

238

Celegans

not conserved

F27E11.2

205

Xtropicalis

all identical

ENSXETG00000009806

216

protein features

start (aa)	end (aa)	feature	details
153	171	TRANSMEM	Helical; (Potential).	lost
177	197	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
205	225	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
261	281	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
361	381	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
428	448	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
532	552	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
572	592	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
609	612	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

864 / 864

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

288 / 288

position of stopcodon in wt / mu cDNA

1300 / 1300

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

437 / 437

chromosome

strand

last intron/exon boundary

1286

theoretical NMD boundary in CDS

799

length of CDS

864

coding sequence (CDS) position

475

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

911

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

20991

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

85448875

original gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGGTAGGTATGTGG

altered gDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGGTAGGTATGTGG

original cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGCAGATCCGGATCTTCCTGAGC

altered cDNA sequence snippet

CGTTCGAGTGGCTGGGCGAGAAGATCCGGATCTTCCTGAGC

wildtype AA sequence

MQLFRWIGTG LLCTGLSAFL LVACLLDFQR ALALFVLTCV VLTFLGHRLL KRLLGPKLRR
FLKPQGHPRL LLWFKRGLAL AAFLGLVLWL SLDTSQRPEQ LVSFAGICVF VALLFACSKH
HCAVSWRAVS WGLGLQFVLG LLVIRTEPGF IAFEWLGEQI RIFLSYTKAG SSFVFGEALV
KDVFAFQVLP IIVFFSCVIS VLYHVGLMQW VILKIAWLMQ VTMGTTATET LSVAGNIFVS
QTEAPLLIRP YLADMTLSEV HVVMTGGYAT IAGSLLGAYI SFGLEKL*

mutated AA sequence

MQLFRWIGTG LLCTGLSAFL LVACLLDFQR ALALFVLTCV VLTFLGHRLL KRLLGPKLRR
FLKPQGHPRL LLWFKRGLAL AAFLGLVLWL SLDTSQRPEQ LVSFAGICVF VALLFACSKH
HCAVSWRAVS WGLGLQFVLG LLVIRTEPGF IAFEWLGEKI RIFLSYTKAG SSFVFGEALV
KDVFAFQVLP IIVFFSCVIS VLYHVGLMQW VILKIAWLMQ VTMGTTATET LSVAGNIFVS
QTEAPLLIRP YLADMTLSEV HVVMTGGYAT IAGSLLGAYI SFGLEKL*

speed

1.12 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