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: ENST00000285013
Querying Taster for transcript #2: ENST00000526861
Querying Taster for transcript #3: ENST00000534689
Querying Taster for transcript #4: ENST00000533791
Querying Taster for transcript #5: ENST00000360502
Querying Taster for transcript #6: ENST00000542635
MT speed 4.54 s - this script 4.826244 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SLFN13	polymorphism_automatic	3.16702220004572e-12	simple_aae		affected		E652K	single base exchange	rs3744371		show file
SLFN13	polymorphism_automatic	3.16702220004572e-12	simple_aae		affected		E652K	single base exchange	rs3744371		show file
SLFN13	polymorphism_automatic	3.16702220004572e-12	simple_aae		affected		E652K	single base exchange	rs3744371		show file
SLFN13	polymorphism_automatic	3.16702220004572e-12	simple_aae		affected		E334K	single base exchange	rs3744371		show file
SLFN13	polymorphism_automatic	3.16702220004572e-12	simple_aae		affected		E334K	single base exchange	rs3744371		show file
SLFN13	polymorphism_automatic	3.16702220004572e-12	simple_aae		affected		E652K	single base exchange	rs3744371		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996833 (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)

chr17:33768354C>TN/A show variant in all transcripts IGV

HGNC symbol

SLFN13

Ensembl transcript ID

ENST00000285013

Genbank transcript ID

NM_144682

UniProt peptide

Q68D06

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1954G>A
cDNA.2230G>A
g.7503G>A

AA changes

E652K Score: 56 explain score(s)

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

652

frameshift

known variant

Reference ID: rs3744371

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1107	1036	2143
ExAC	19269	-5771	13498

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.775	0.068
	-0.144	0.09
(flanking)	0.878	0.094

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	7500	wt: 0.9544 / mu: 0.9556 (marginal change - not scored)	wt: AGACCCGGGAAACTT mu: AGACCCGGAAAACTT	ACCC\|ggga
Donor increased	7501	wt: 0.85 / mu: 0.94	wt: GACCCGGGAAACTTT mu: GACCCGGAAAACTTT	CCCG\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

652

mutated

all conserved

652

Ptroglodytes

all conserved

ENSPTRG00000042109

652

Mmulatta

all conserved

ENSMMUG00000005551

652

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000072621

589

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

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

2694 / 2694

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

898 / 898

position of stopcodon in wt / mu cDNA

2970 / 2970

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

277 / 277

chromosome

strand

-1

last intron/exon boundary

2199

theoretical NMD boundary in CDS

1872

length of CDS

2694

coding sequence (CDS) position

1954

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

2230

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

7503

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

33768354

original gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

original cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

wildtype AA sequence

MEANHCSLGV YPSYPDLVID VGEVTLGEEN RKKLQKTQRD QERARVIRAA CALLNSGGGV
IQMEMANRDE RPTEMGLDLE ESLRKLIQYP YLQAFFETKQ HGRCFYIFVK SWSGDPFLKD
GSFNSRICSL SSSLYCRSGT SVLHMNSRQA FDFLKTKERQ SKYNLINEGS PPSKIMKAVY
QNISESNPAY EVFQTDTIEY GEILSFPESP SIEFKQFSTK HIQQYVENII PEYISAFANT
EGGYLFIGVD DKSRKVLGCA KEQVDPDSLK NVIARAISKL PIVHFCSSKP RVEYSTKIVE
VFCGKELYGY LCVIKVKAFC CVVFSEAPKS WMVREKYIRP LTTEEWVEKM MDADPEFPPD
FAEAFESQLS LSDSPSLCRP VYSKKGLEHK ADLQQHLFPV PPGHLECTPE SLWKELSLQH
EGLKELIHKQ MRPFSQGIVI LSRSWAVDLN LQEKPGVICD ALLIAQNSTP ILYTILREQD
AEGQDYCTRT AFTLKQKLVN MGGYTGKVCV RAKVLCLSPE SSAEALEAAV SPMDYPASYS
LAGTQHMEAL LQSLVIVLLG FRSLLSDQLG CEVLNLLTAQ QYEIFSRSLR KNRELFVHGL
PGSGKTIMAM KIMEKIRNVF HCEAHRILYV CENQPLRNFI SDRNICRAET RETFLREKFE
HIQHIVIDEA QNFRTEDGDW YRKAKTITQR EKDCPGVLWI FLDYFQTSHL GHSGLPPLSA
QYPREELTRV VRNADEIAEY IQQEMQLIIE NPPINIPHGY LAILSEAKWV PGVPGNTKII
KNFTLEQIVT YVADTCRCFF ERGYSPKDVA VLVSTVTEVE QYQSKLLKAM RKKMVVQLSD
ACDMLGVHIV LDSVRRFSGL ERSIVFGIHP RTADPAILPN ILICLASRAK QHLYIFL*

mutated AA sequence

MEANHCSLGV YPSYPDLVID VGEVTLGEEN RKKLQKTQRD QERARVIRAA CALLNSGGGV
IQMEMANRDE RPTEMGLDLE ESLRKLIQYP YLQAFFETKQ HGRCFYIFVK SWSGDPFLKD
GSFNSRICSL SSSLYCRSGT SVLHMNSRQA FDFLKTKERQ SKYNLINEGS PPSKIMKAVY
QNISESNPAY EVFQTDTIEY GEILSFPESP SIEFKQFSTK HIQQYVENII PEYISAFANT
EGGYLFIGVD DKSRKVLGCA KEQVDPDSLK NVIARAISKL PIVHFCSSKP RVEYSTKIVE
VFCGKELYGY LCVIKVKAFC CVVFSEAPKS WMVREKYIRP LTTEEWVEKM MDADPEFPPD
FAEAFESQLS LSDSPSLCRP VYSKKGLEHK ADLQQHLFPV PPGHLECTPE SLWKELSLQH
EGLKELIHKQ MRPFSQGIVI LSRSWAVDLN LQEKPGVICD ALLIAQNSTP ILYTILREQD
AEGQDYCTRT AFTLKQKLVN MGGYTGKVCV RAKVLCLSPE SSAEALEAAV SPMDYPASYS
LAGTQHMEAL LQSLVIVLLG FRSLLSDQLG CEVLNLLTAQ QYEIFSRSLR KNRELFVHGL
PGSGKTIMAM KIMEKIRNVF HCEAHRILYV CENQPLRNFI SDRNICRAET RKTFLREKFE
HIQHIVIDEA QNFRTEDGDW YRKAKTITQR EKDCPGVLWI FLDYFQTSHL GHSGLPPLSA
QYPREELTRV VRNADEIAEY IQQEMQLIIE NPPINIPHGY LAILSEAKWV PGVPGNTKII
KNFTLEQIVT YVADTCRCFF ERGYSPKDVA VLVSTVTEVE QYQSKLLKAM RKKMVVQLSD
ACDMLGVHIV LDSVRRFSGL ERSIVFGIHP RTADPAILPN ILICLASRAK QHLYIFL*

speed

0.34 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: 0.999999999996833 (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)

chr17:33768354C>TN/A show variant in all transcripts IGV

HGNC symbol

SLFN13

Ensembl transcript ID

ENST00000526861

Genbank transcript ID

N/A

UniProt peptide

Q68D06

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1954G>A
cDNA.2212G>A
g.7503G>A

AA changes

E652K Score: 56 explain score(s)

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

652

frameshift

known variant

Reference ID: rs3744371

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1107	1036	2143
ExAC	19269	-5771	13498

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.775	0.068
	-0.144	0.09
(flanking)	0.878	0.094

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	7500	wt: 0.9544 / mu: 0.9556 (marginal change - not scored)	wt: AGACCCGGGAAACTT mu: AGACCCGGAAAACTT	ACCC\|ggga
Donor increased	7501	wt: 0.85 / mu: 0.94	wt: GACCCGGGAAACTTT mu: GACCCGGAAAACTTT	CCCG\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

652

mutated

all conserved

652

Ptroglodytes

all conserved

ENSPTRG00000042109

652

Mmulatta

all conserved

ENSMMUG00000005551

652

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000072621

589

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

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

2694 / 2694

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

898 / 898

position of stopcodon in wt / mu cDNA

2952 / 2952

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

259 / 259

chromosome

strand

-1

last intron/exon boundary

2181

theoretical NMD boundary in CDS

1872

length of CDS

2694

coding sequence (CDS) position

1954

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

2212

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

7503

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

33768354

original gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

original cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

wildtype AA sequence

mutated AA sequence

MEANHCSLGV YPSYPDLVID VGEVTLGEEN RKKLQKTQRD QERARVIRAA CALLNSGGGV
IQMEMANRDE RPTEMGLDLE ESLRKLIQYP YLQAFFETKQ HGRCFYIFVK SWSGDPFLKD
GSFNSRICSL SSSLYCRSGT SVLHMNSRQA FDFLKTKERQ SKYNLINEGS PPSKIMKAVY
QNISESNPAY EVFQTDTIEY GEILSFPESP SIEFKQFSTK HIQQYVENII PEYISAFANT
EGGYLFIGVD DKSRKVLGCA KEQVDPDSLK NVIARAISKL PIVHFCSSKP RVEYSTKIVE
VFCGKELYGY LCVIKVKAFC CVVFSEAPKS WMVREKYIRP LTTEEWVEKM MDADPEFPPD
FAEAFESQLS LSDSPSLCRP VYSKKGLEHK ADLQQHLFPV PPGHLECTPE SLWKELSLQH
EGLKELIHKQ MRPFSQGIVI LSRSWAVDLN LQEKPGVICD ALLIAQNSTP ILYTILREQD
AEGQDYCTRT AFTLKQKLVN MGGYTGKVCV RAKVLCLSPE SSAEALEAAV SPMDYPASYS
LAGTQHMEAL LQSLVIVLLG FRSLLSDQLG CEVLNLLTAQ QYEIFSRSLR KNRELFVHGL
PGSGKTIMAM KIMEKIRNVF HCEAHRILYV CENQPLRNFI SDRNICRAET RKTFLREKFE
HIQHIVIDEA QNFRTEDGDW YRKAKTITQR EKDCPGVLWI FLDYFQTSHL GHSGLPPLSA
QYPREELTRV VRNADEIAEY IQQEMQLIIE NPPINIPHGY LAILSEAKWV PGVPGNTKII
KNFTLEQIVT YVADTCRCFF ERGYSPKDVA VLVSTVTEVE QYQSKLLKAM RKKMVVQLSD
ACDMLGVHIV LDSVRRFSGL ERSIVFGIHP RTADPAILPN ILICLASRAK QHLYIFL*

speed

1.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996833 (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)

chr17:33768354C>TN/A show variant in all transcripts IGV

HGNC symbol

SLFN13

Ensembl transcript ID

ENST00000533791

Genbank transcript ID

N/A

UniProt peptide

Q68D06

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1954G>A
cDNA.2284G>A
g.7503G>A

AA changes

E652K Score: 56 explain score(s)

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

652

frameshift

known variant

Reference ID: rs3744371

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1107	1036	2143
ExAC	19269	-5771	13498

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.775	0.068
	-0.144	0.09
(flanking)	0.878	0.094

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	7500	wt: 0.9544 / mu: 0.9556 (marginal change - not scored)	wt: AGACCCGGGAAACTT mu: AGACCCGGAAAACTT	ACCC\|ggga
Donor increased	7501	wt: 0.85 / mu: 0.94	wt: GACCCGGGAAACTTT mu: GACCCGGAAAACTTT	CCCG\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

652

mutated

all conserved

652

Ptroglodytes

all conserved

ENSPTRG00000042109

652

Mmulatta

all conserved

ENSMMUG00000005551

652

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000072621

589

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

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

2694 / 2694

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

898 / 898

position of stopcodon in wt / mu cDNA

3024 / 3024

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

331 / 331

chromosome

strand

-1

last intron/exon boundary

2253

theoretical NMD boundary in CDS

1872

length of CDS

2694

coding sequence (CDS) position

1954

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

2284

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

7503

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

33768354

original gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

original cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

wildtype AA sequence

mutated AA sequence

MEANHCSLGV YPSYPDLVID VGEVTLGEEN RKKLQKTQRD QERARVIRAA CALLNSGGGV
IQMEMANRDE RPTEMGLDLE ESLRKLIQYP YLQAFFETKQ HGRCFYIFVK SWSGDPFLKD
GSFNSRICSL SSSLYCRSGT SVLHMNSRQA FDFLKTKERQ SKYNLINEGS PPSKIMKAVY
QNISESNPAY EVFQTDTIEY GEILSFPESP SIEFKQFSTK HIQQYVENII PEYISAFANT
EGGYLFIGVD DKSRKVLGCA KEQVDPDSLK NVIARAISKL PIVHFCSSKP RVEYSTKIVE
VFCGKELYGY LCVIKVKAFC CVVFSEAPKS WMVREKYIRP LTTEEWVEKM MDADPEFPPD
FAEAFESQLS LSDSPSLCRP VYSKKGLEHK ADLQQHLFPV PPGHLECTPE SLWKELSLQH
EGLKELIHKQ MRPFSQGIVI LSRSWAVDLN LQEKPGVICD ALLIAQNSTP ILYTILREQD
AEGQDYCTRT AFTLKQKLVN MGGYTGKVCV RAKVLCLSPE SSAEALEAAV SPMDYPASYS
LAGTQHMEAL LQSLVIVLLG FRSLLSDQLG CEVLNLLTAQ QYEIFSRSLR KNRELFVHGL
PGSGKTIMAM KIMEKIRNVF HCEAHRILYV CENQPLRNFI SDRNICRAET RKTFLREKFE
HIQHIVIDEA QNFRTEDGDW YRKAKTITQR EKDCPGVLWI FLDYFQTSHL GHSGLPPLSA
QYPREELTRV VRNADEIAEY IQQEMQLIIE NPPINIPHGY LAILSEAKWV PGVPGNTKII
KNFTLEQIVT YVADTCRCFF ERGYSPKDVA VLVSTVTEVE QYQSKLLKAM RKKMVVQLSD
ACDMLGVHIV LDSVRRFSGL ERSIVFGIHP RTADPAILPN ILICLASRAK QHLYIFL*

speed

1.19 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996833 (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)

chr17:33768354C>TN/A show variant in all transcripts IGV

HGNC symbol

SLFN13

Ensembl transcript ID

ENST00000534689

Genbank transcript ID

N/A

UniProt peptide

Q68D06

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1000G>A
cDNA.1203G>A
g.7503G>A

AA changes

E334K Score: 56 explain score(s)

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

334

frameshift

known variant

Reference ID: rs3744371

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1107	1036	2143
ExAC	19269	-5771	13498

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.775	0.068
	-0.144	0.09
(flanking)	0.878	0.094

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	7500	wt: 0.9544 / mu: 0.9556 (marginal change - not scored)	wt: AGACCCGGGAAACTT mu: AGACCCGGAAAACTT	ACCC\|ggga
Donor increased	7501	wt: 0.85 / mu: 0.94	wt: GACCCGGGAAACTTT mu: GACCCGGAAAACTTT	CCCG\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

334

mutated

all conserved

334

Ptroglodytes

all conserved

ENSPTRG00000042109

652

Mmulatta

all conserved

ENSMMUG00000005551

652

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000072621

589

ETN

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
599	606	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1740 / 1740

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

580 / 580

position of stopcodon in wt / mu cDNA

1943 / 1943

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

204 / 204

chromosome

strand

-1

last intron/exon boundary

1172

theoretical NMD boundary in CDS

918

length of CDS

1740

coding sequence (CDS) position

1000

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

1203

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

7503

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

33768354

original gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

original cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

wildtype AA sequence

MEANHCSLAP KSWMVREKYI RPLTTEEWVE KMMDADPEFP PDFAEAFESQ LSLSDSPSLC
RPVYSKKGLE HKADLQQHLF PVPPGHLECT PESLWKELSL QHEGLKELIH KQMRPFSQGI
VILSRSWAVD LNLQEKPGVI CDALLIAQNS TPILYTILRE QDAEGQDYCT RTAFTLKQKL
VNMGGYTGKV CVRAKVLCLS PESSAEALEA AVSPMDYPAS YSLAGTQHME ALLQSLVIVL
LGFRSLLSDQ LGCEVLNLLT AQQYEIFSRS LRKNRELFVH GLPGSGKTIM AMKIMEKIRN
VFHCEAHRIL YVCENQPLRN FISDRNICRA ETRETFLREK FEHIQHIVID EAQNFRTEDG
DWYRKAKTIT QREKDCPGVL WIFLDYFQTS HLGHSGLPPL SAQYPREELT RVVRNADEIA
EYIQQEMQLI IENPPINIPH GYLAILSEAK WVPGVPGNTK IIKNFTLEQI VTYVADTCRC
FFERGYSPKD VAVLVSTVTE VEQYQSKLLK AMRKKMVVQL SDACDMLGVH IVLDSVRRFS
GLERSIVFGI HPRTADPAIL PNILICLASR AKQHLYIFL*

mutated AA sequence

MEANHCSLAP KSWMVREKYI RPLTTEEWVE KMMDADPEFP PDFAEAFESQ LSLSDSPSLC
RPVYSKKGLE HKADLQQHLF PVPPGHLECT PESLWKELSL QHEGLKELIH KQMRPFSQGI
VILSRSWAVD LNLQEKPGVI CDALLIAQNS TPILYTILRE QDAEGQDYCT RTAFTLKQKL
VNMGGYTGKV CVRAKVLCLS PESSAEALEA AVSPMDYPAS YSLAGTQHME ALLQSLVIVL
LGFRSLLSDQ LGCEVLNLLT AQQYEIFSRS LRKNRELFVH GLPGSGKTIM AMKIMEKIRN
VFHCEAHRIL YVCENQPLRN FISDRNICRA ETRKTFLREK FEHIQHIVID EAQNFRTEDG
DWYRKAKTIT QREKDCPGVL WIFLDYFQTS HLGHSGLPPL SAQYPREELT RVVRNADEIA
EYIQQEMQLI IENPPINIPH GYLAILSEAK WVPGVPGNTK IIKNFTLEQI VTYVADTCRC
FFERGYSPKD VAVLVSTVTE VEQYQSKLLK AMRKKMVVQL SDACDMLGVH IVLDSVRRFS
GLERSIVFGI HPRTADPAIL PNILICLASR AKQHLYIFL*

speed

0.34 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996833 (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)

chr17:33768354C>TN/A show variant in all transcripts IGV

HGNC symbol

SLFN13

Ensembl transcript ID

ENST00000360502

Genbank transcript ID

N/A

UniProt peptide

Q68D06

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1000G>A
cDNA.1000G>A
g.7503G>A

AA changes

E334K Score: 56 explain score(s)

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

334

frameshift

known variant

Reference ID: rs3744371

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1107	1036	2143
ExAC	19269	-5771	13498

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.775	0.068
	-0.144	0.09
(flanking)	0.878	0.094

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	7500	wt: 0.9544 / mu: 0.9556 (marginal change - not scored)	wt: AGACCCGGGAAACTT mu: AGACCCGGAAAACTT	ACCC\|ggga
Donor increased	7501	wt: 0.85 / mu: 0.94	wt: GACCCGGGAAACTTT mu: GACCCGGAAAACTTT	CCCG\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

334

mutated

all conserved

334

Ptroglodytes

all conserved

ENSPTRG00000042109

652

Mmulatta

all conserved

ENSMMUG00000005551

652

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000072621

589

ETN

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
599	606	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1740 / 1740

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

580 / 580

position of stopcodon in wt / mu cDNA

1740 / 1740

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

969

theoretical NMD boundary in CDS

918

length of CDS

1740

coding sequence (CDS) position

1000

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

1000

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

7503

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

33768354

original gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

original cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

wildtype AA sequence

mutated AA sequence

MEANHCSLAP KSWMVREKYI RPLTTEEWVE KMMDADPEFP PDFAEAFESQ LSLSDSPSLC
RPVYSKKGLE HKADLQQHLF PVPPGHLECT PESLWKELSL QHEGLKELIH KQMRPFSQGI
VILSRSWAVD LNLQEKPGVI CDALLIAQNS TPILYTILRE QDAEGQDYCT RTAFTLKQKL
VNMGGYTGKV CVRAKVLCLS PESSAEALEA AVSPMDYPAS YSLAGTQHME ALLQSLVIVL
LGFRSLLSDQ LGCEVLNLLT AQQYEIFSRS LRKNRELFVH GLPGSGKTIM AMKIMEKIRN
VFHCEAHRIL YVCENQPLRN FISDRNICRA ETRKTFLREK FEHIQHIVID EAQNFRTEDG
DWYRKAKTIT QREKDCPGVL WIFLDYFQTS HLGHSGLPPL SAQYPREELT RVVRNADEIA
EYIQQEMQLI IENPPINIPH GYLAILSEAK WVPGVPGNTK IIKNFTLEQI VTYVADTCRC
FFERGYSPKD VAVLVSTVTE VEQYQSKLLK AMRKKMVVQL SDACDMLGVH IVLDSVRRFS
GLERSIVFGI HPRTADPAIL PNILICLASR AKQHLYIFL*

speed

1.14 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996833 (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)

chr17:33768354C>TN/A show variant in all transcripts IGV

HGNC symbol

SLFN13

Ensembl transcript ID

ENST00000542635

Genbank transcript ID

N/A

UniProt peptide

Q68D06

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1954G>A
cDNA.2131G>A
g.7503G>A

AA changes

E652K Score: 56 explain score(s)

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

652

frameshift

known variant

Reference ID: rs3744371

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1107	1036	2143
ExAC	19269	-5771	13498

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.775	0.068
	-0.144	0.09
(flanking)	0.878	0.094

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	7500	wt: 0.9544 / mu: 0.9556 (marginal change - not scored)	wt: AGACCCGGGAAACTT mu: AGACCCGGAAAACTT	ACCC\|ggga
Donor increased	7501	wt: 0.85 / mu: 0.94	wt: GACCCGGGAAACTTT mu: GACCCGGAAAACTTT	CCCG\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

652

mutated

all conserved

652

Ptroglodytes

all conserved

ENSPTRG00000042109

652

Mmulatta

all conserved

ENSMMUG00000005551

652

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000072621

589

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

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

2694 / 2694

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

898 / 898

position of stopcodon in wt / mu cDNA

2871 / 2871

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

178 / 178

chromosome

strand

-1

last intron/exon boundary

2100

theoretical NMD boundary in CDS

1872

length of CDS

2694

coding sequence (CDS) position

1954

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

2131

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

7503

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

33768354

original gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered gDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

original cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA

altered cDNA sequence snippet

TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA

wildtype AA sequence

mutated AA sequence

MEANHCSLGV YPSYPDLVID VGEVTLGEEN RKKLQKTQRD QERARVIRAA CALLNSGGGV
IQMEMANRDE RPTEMGLDLE ESLRKLIQYP YLQAFFETKQ HGRCFYIFVK SWSGDPFLKD
GSFNSRICSL SSSLYCRSGT SVLHMNSRQA FDFLKTKERQ SKYNLINEGS PPSKIMKAVY
QNISESNPAY EVFQTDTIEY GEILSFPESP SIEFKQFSTK HIQQYVENII PEYISAFANT
EGGYLFIGVD DKSRKVLGCA KEQVDPDSLK NVIARAISKL PIVHFCSSKP RVEYSTKIVE
VFCGKELYGY LCVIKVKAFC CVVFSEAPKS WMVREKYIRP LTTEEWVEKM MDADPEFPPD
FAEAFESQLS LSDSPSLCRP VYSKKGLEHK ADLQQHLFPV PPGHLECTPE SLWKELSLQH
EGLKELIHKQ MRPFSQGIVI LSRSWAVDLN LQEKPGVICD ALLIAQNSTP ILYTILREQD
AEGQDYCTRT AFTLKQKLVN MGGYTGKVCV RAKVLCLSPE SSAEALEAAV SPMDYPASYS
LAGTQHMEAL LQSLVIVLLG FRSLLSDQLG CEVLNLLTAQ QYEIFSRSLR KNRELFVHGL
PGSGKTIMAM KIMEKIRNVF HCEAHRILYV CENQPLRNFI SDRNICRAET RKTFLREKFE
HIQHIVIDEA QNFRTEDGDW YRKAKTITQR EKDCPGVLWI FLDYFQTSHL GHSGLPPLSA
QYPREELTRV VRNADEIAEY IQQEMQLIIE NPPINIPHGY LAILSEAKWV PGVPGNTKII
KNFTLEQIVT YVADTCRCFF ERGYSPKDVA VLVSTVTEVE QYQSKLLKAM RKKMVVQLSD
ACDMLGVHIV LDSVRRFSGL ERSIVFGIHP RTADPAILPN ILICLASRAK QHLYIFL*

speed

0.35 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