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: ENST00000258381
Querying Taster for transcript #2: ENST00000358662
Querying Taster for transcript #3: ENST00000392048
Querying Taster for transcript #4: ENST00000258382
Querying Taster for transcript #5: ENST00000540870
Querying Taster for transcript #6: ENST00000338556
MT speed 0 s - this script 5.964066 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SP110	polymorphism_automatic	2.55018228756398e-13	simple_aae		affected		M225T	single base exchange	rs1135791		show file
SP110	polymorphism_automatic	4.23994173104347e-13	simple_aae		affected		M523T	single base exchange	rs1135791		show file
SP110	polymorphism_automatic	4.23994173104347e-13	simple_aae		affected		M523T	single base exchange	rs1135791		show file
SP110	polymorphism_automatic	4.23994173104347e-13	simple_aae		affected		M523T	single base exchange	rs1135791		show file
SP110	polymorphism_automatic	4.23994173104347e-13	simple_aae		affected		M521T	single base exchange	rs1135791		show file
SP110	polymorphism_automatic	5.52002887843628e-13	simple_aae		affected		M529T	single base exchange	rs1135791		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999745 (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)

chr2:231042276A>GN/A show variant in all transcripts IGV

HGNC symbol

SP110

Ensembl transcript ID

ENST00000338556

Genbank transcript ID

N/A

UniProt peptide

Q9HB58

alteration type

single base exchange

alteration region

CDS

DNA changes

c.674T>C
cDNA.1658T>C
g.48169T>C

AA changes

M225T Score: 81 explain score(s)

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

225

frameshift

known variant

Reference ID: rs1135791

database	homozygous (G/G)	heterozygous	allele carriers
1000G	316	995	1311
ExAC	12009	8749	20758

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.36	0
	-0.287	0
(flanking)	-0.943	0

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	48174	wt: 0.7805 / mu: 0.8416 (marginal change - not scored)	wt: TGACCCTAGGAGAGC mu: CGACCCTAGGAGAGC	ACCC\|tagg
Donor increased	48171	wt: 0.39 / mu: 0.61	wt: GAATGACCCTAGGAG mu: GAACGACCCTAGGAG	ATGA\|ccct
Donor marginally increased	48164	wt: 0.9854 / mu: 0.9914 (marginal change - not scored)	wt: TGTGAAGGAATGACC mu: TGTGAAGGAACGACC	TGAA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

225

mutated

not conserved

225

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000070034

421

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000055359

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000032669

protein features

start (aa)	end (aa)	feature	details
256	256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
281	294	MOTIF	Nuclear localization signal (Potential).	might get lost (downstream of altered splice site)
428	444	MOTIF	Nuclear localization signal (Potential).	might get lost (downstream of altered splice site)
454	535	DOMAIN	SAND.	might get lost (downstream of altered splice site)
464	464	CONFLICT	L -> S (in Ref. 1; AAA18806).	might get lost (downstream of altered splice site)
525	529	REGION	Nuclear hormone receptor interaction (Potential).	might get lost (downstream of altered splice site)
534	580	ZN_FING	PHD-type.	might get lost (downstream of altered splice site)
570	570	CONFLICT	M -> I (in Ref. 3; AK026488).	might get lost (downstream of altered splice site)
581	676	DOMAIN	Bromo.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

756 / 756

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

252 / 252

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

985 / 985

chromosome

strand

-1

last intron/exon boundary

1681

theoretical NMD boundary in CDS

646

length of CDS

756

coding sequence (CDS) position

674

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

1658

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

48169

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

231042276

original gDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered gDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

original cDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered cDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

wildtype AA sequence

MPEIRDNSPE PNDPEEPQEV SSTPSDKKGK KRKRCIWSTP KRRHKKKSLP GEIIDGTSEM
NEGKRSQKTP STPRRVTQGA ASPGHGIQEK LQVVDKVTQR KDDSTWNSEV MMRVQKARTK
CARKSRLKEK KKEKDICSSS KRRFQKNIHR RGKPKSDTVD FHCSKLPVTC GEAKGILYKK
KMKHGSSVKC IRNEDGTWLT PNEFEVEGKG RNAKNWKRNI RCEGMTLGEL LKSGLLLCPP
RINLKRELNS K*

mutated AA sequence

speed

0.90 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: 0.999999999999576 (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)

chr2:231042276A>GN/A show variant in all transcripts IGV

HGNC symbol

SP110

Ensembl transcript ID

ENST00000258381

Genbank transcript ID

NM_080424

UniProt peptide

Q9HB58

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1568T>C
cDNA.1646T>C
g.48169T>C

AA changes

M523T Score: 81 explain score(s)

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

523

frameshift

known variant

Reference ID: rs1135791

database	homozygous (G/G)	heterozygous	allele carriers
1000G	316	995	1311
ExAC	12009	8749	20758

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.36	0
	-0.287	0
(flanking)	-0.943	0

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	48174	wt: 0.7805 / mu: 0.8416 (marginal change - not scored)	wt: TGACCCTAGGAGAGC mu: CGACCCTAGGAGAGC	ACCC\|tagg
Donor increased	48171	wt: 0.39 / mu: 0.61	wt: GAATGACCCTAGGAG mu: GAACGACCCTAGGAG	ATGA\|ccct
Donor marginally increased	48164	wt: 0.9854 / mu: 0.9914 (marginal change - not scored)	wt: TGTGAAGGAATGACC mu: TGTGAAGGAACGACC	TGAA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

523

mutated

not conserved

523

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000070034

421

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000055359

RVLS

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000032669

162

protein features

start (aa)	end (aa)	feature	details
454	535	DOMAIN	SAND.	lost
525	529	REGION	Nuclear hormone receptor interaction (Potential).	might get lost (downstream of altered splice site)
534	580	ZN_FING	PHD-type.	might get lost (downstream of altered splice site)
570	570	CONFLICT	M -> I (in Ref. 3; AK026488).	might get lost (downstream of altered splice site)
581	676	DOMAIN	Bromo.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2142 / 2142

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

714 / 714

position of stopcodon in wt / mu cDNA

2220 / 2220

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

79 / 79

chromosome

strand

-1

last intron/exon boundary

2107

theoretical NMD boundary in CDS

1978

length of CDS

2142

coding sequence (CDS) position

1568

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

1646

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

48169

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

231042276

original gDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered gDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

original cDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered cDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

wildtype AA sequence

MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLKCEFL LLKAYCHPQS SFFTGIPFNI RDYGEPFQEA MWLDLVKERL ITEMYTVAWF
VRDMRLMFRN HKTFYKASDF GQVGLDLEAE FEKDLKDVLG FHEANDGGFW TLP*

mutated AA sequence

MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGTTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLKCEFL LLKAYCHPQS SFFTGIPFNI RDYGEPFQEA MWLDLVKERL ITEMYTVAWF
VRDMRLMFRN HKTFYKASDF GQVGLDLEAE FEKDLKDVLG FHEANDGGFW TLP*

speed

1.17 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999576 (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)

chr2:231042276A>GN/A show variant in all transcripts IGV

HGNC symbol

SP110

Ensembl transcript ID

ENST00000358662

Genbank transcript ID

NM_004509

UniProt peptide

Q9HB58

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1568T>C
cDNA.1647T>C
g.48169T>C

AA changes

M523T Score: 81 explain score(s)

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

523

frameshift

known variant

Reference ID: rs1135791

database	homozygous (G/G)	heterozygous	allele carriers
1000G	316	995	1311
ExAC	12009	8749	20758

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.36	0
	-0.287	0
(flanking)	-0.943	0

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	48174	wt: 0.7805 / mu: 0.8416 (marginal change - not scored)	wt: TGACCCTAGGAGAGC mu: CGACCCTAGGAGAGC	ACCC\|tagg
Donor increased	48171	wt: 0.39 / mu: 0.61	wt: GAATGACCCTAGGAG mu: GAACGACCCTAGGAG	ATGA\|ccct
Donor marginally increased	48164	wt: 0.9854 / mu: 0.9914 (marginal change - not scored)	wt: TGTGAAGGAATGACC mu: TGTGAAGGAACGACC	TGAA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

523

mutated

not conserved

523

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000070034

421

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000055359

RVLS

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000032669

162

protein features

start (aa)	end (aa)	feature	details
454	535	DOMAIN	SAND.	lost
525	529	REGION	Nuclear hormone receptor interaction (Potential).	might get lost (downstream of altered splice site)
534	580	ZN_FING	PHD-type.	might get lost (downstream of altered splice site)
570	570	CONFLICT	M -> I (in Ref. 3; AK026488).	might get lost (downstream of altered splice site)
581	676	DOMAIN	Bromo.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2070 / 2070

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

690 / 690

position of stopcodon in wt / mu cDNA

2149 / 2149

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

80 / 80

chromosome

strand

-1

last intron/exon boundary

2036

theoretical NMD boundary in CDS

1906

length of CDS

2070

coding sequence (CDS) position

1568

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

1647

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

48169

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

231042276

original gDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered gDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

original cDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered cDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

wildtype AA sequence

MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLIRDYG EPFQEAMWLD LVKERLITEM YTVAWFVRDM RLMFRNHKTF YKASDFGQVG
LDLEAEFEKD LKDVLGFHEA NDGGFWTLP*

mutated AA sequence

MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGTTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLIRDYG EPFQEAMWLD LVKERLITEM YTVAWFVRDM RLMFRNHKTF YKASDFGQVG
LDLEAEFEKD LKDVLGFHEA NDGGFWTLP*

speed

1.33 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999576 (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)

chr2:231042276A>GN/A show variant in all transcripts IGV

HGNC symbol

SP110

Ensembl transcript ID

ENST00000258382

Genbank transcript ID

NM_004510

UniProt peptide

Q9HB58

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1568T>C
cDNA.1808T>C
g.48169T>C

AA changes

M523T Score: 81 explain score(s)

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

523

frameshift

known variant

Reference ID: rs1135791

database	homozygous (G/G)	heterozygous	allele carriers
1000G	316	995	1311
ExAC	12009	8749	20758

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.36	0
	-0.287	0
(flanking)	-0.943	0

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	48174	wt: 0.7805 / mu: 0.8416 (marginal change - not scored)	wt: TGACCCTAGGAGAGC mu: CGACCCTAGGAGAGC	ACCC\|tagg
Donor increased	48171	wt: 0.39 / mu: 0.61	wt: GAATGACCCTAGGAG mu: GAACGACCCTAGGAG	ATGA\|ccct
Donor marginally increased	48164	wt: 0.9854 / mu: 0.9914 (marginal change - not scored)	wt: TGTGAAGGAATGACC mu: TGTGAAGGAACGACC	TGAA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

523

mutated

not conserved

523

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000070034

421

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000055359

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000032669

protein features

start (aa)	end (aa)	feature	details
454	535	DOMAIN	SAND.	lost
525	529	REGION	Nuclear hormone receptor interaction (Potential).	might get lost (downstream of altered splice site)
534	580	ZN_FING	PHD-type.	might get lost (downstream of altered splice site)
570	570	CONFLICT	M -> I (in Ref. 3; AK026488).	might get lost (downstream of altered splice site)
581	676	DOMAIN	Bromo.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1650 / 1650

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

550 / 550

position of stopcodon in wt / mu cDNA

1890 / 1890

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

241 / 241

chromosome

strand

-1

last intron/exon boundary

1831

theoretical NMD boundary in CDS

1540

length of CDS

1650

coding sequence (CDS) position

1568

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

1808

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

48169

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

231042276

original gDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered gDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

original cDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered cDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

wildtype AA sequence

mutated AA sequence

speed

0.91 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999576 (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)

chr2:231042276A>GN/A show variant in all transcripts IGV

HGNC symbol

SP110

Ensembl transcript ID

ENST00000392048

Genbank transcript ID

N/A

UniProt peptide

Q9HB58

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1562T>C
cDNA.1663T>C
g.48169T>C

AA changes

M521T Score: 81 explain score(s)

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

521

frameshift

known variant

Reference ID: rs1135791

database	homozygous (G/G)	heterozygous	allele carriers
1000G	316	995	1311
ExAC	12009	8749	20758

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.36	0
	-0.287	0
(flanking)	-0.943	0

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	48174	wt: 0.7805 / mu: 0.8416 (marginal change - not scored)	wt: TGACCCTAGGAGAGC mu: CGACCCTAGGAGAGC	ACCC\|tagg
Donor increased	48171	wt: 0.39 / mu: 0.61	wt: GAATGACCCTAGGAG mu: GAACGACCCTAGGAG	ATGA\|ccct
Donor marginally increased	48164	wt: 0.9854 / mu: 0.9914 (marginal change - not scored)	wt: TGTGAAGGAATGACC mu: TGTGAAGGAACGACC	TGAA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

521

mutated

not conserved

521

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000070034

421

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000055359

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000032669

protein features

start (aa)	end (aa)	feature	details
454	535	DOMAIN	SAND.	lost
525	529	REGION	Nuclear hormone receptor interaction (Potential).	might get lost (downstream of altered splice site)
534	580	ZN_FING	PHD-type.	might get lost (downstream of altered splice site)
570	570	CONFLICT	M -> I (in Ref. 3; AK026488).	might get lost (downstream of altered splice site)
581	676	DOMAIN	Bromo.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1644 / 1644

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

548 / 548

position of stopcodon in wt / mu cDNA

1745 / 1745

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

102 / 102

chromosome

strand

-1

last intron/exon boundary

1686

theoretical NMD boundary in CDS

1534

length of CDS

1644

coding sequence (CDS) position

1562

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

1663

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

48169

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

231042276

original gDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered gDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

original cDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered cDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

wildtype AA sequence

MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGA
SSRHGIQKKL KRVDQVPQKK DDSTCNSTVE TRAQKARTEC ARKSRSEEII DGTSEMNEGK
RSQKTPSTPR RVTQGAASPG HGIQEKLQVV DKVTQRKDDS TWNSEVMMRV QKARTKCARK
SRLKEKKKEK DICSSSKRRF QKNIHRRGKP KSDTVDFHCS KLPVTCGEAK GILYKKKMKH
GSSVKCIRNE DGTWLTPNEF EVEGKGRNAK NWKRNIRCEG MTLGELLKSG LLLCPPRINL
KRELNSK*

mutated AA sequence

MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGA
SSRHGIQKKL KRVDQVPQKK DDSTCNSTVE TRAQKARTEC ARKSRSEEII DGTSEMNEGK
RSQKTPSTPR RVTQGAASPG HGIQEKLQVV DKVTQRKDDS TWNSEVMMRV QKARTKCARK
SRLKEKKKEK DICSSSKRRF QKNIHRRGKP KSDTVDFHCS KLPVTCGEAK GILYKKKMKH
GSSVKCIRNE DGTWLTPNEF EVEGKGRNAK NWKRNIRCEG TTLGELLKSG LLLCPPRINL
KRELNSK*

speed

1.38 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999448 (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)

chr2:231042276A>GN/A show variant in all transcripts IGV

HGNC symbol

SP110

Ensembl transcript ID

ENST00000540870

Genbank transcript ID

NM_001185015

UniProt peptide

Q9HB58

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1586T>C
cDNA.1844T>C
g.48169T>C

AA changes

M529T Score: 81 explain score(s)

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

529

frameshift

known variant

Reference ID: rs1135791

database	homozygous (G/G)	heterozygous	allele carriers
1000G	316	995	1311
ExAC	12009	8749	20758

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.36	0
	-0.287	0
(flanking)	-0.943	0

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	48174	wt: 0.7805 / mu: 0.8416 (marginal change - not scored)	wt: TGACCCTAGGAGAGC mu: CGACCCTAGGAGAGC	ACCC\|tagg
Donor increased	48171	wt: 0.39 / mu: 0.61	wt: GAATGACCCTAGGAG mu: GAACGACCCTAGGAG	ATGA\|ccct
Donor marginally increased	48164	wt: 0.9854 / mu: 0.9914 (marginal change - not scored)	wt: TGTGAAGGAATGACC mu: TGTGAAGGAACGACC	TGAA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

529

mutated

not conserved

529

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000070034

421

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000055359

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000032669

protein features

start (aa)	end (aa)	feature	details
454	535	DOMAIN	SAND.	lost
525	529	REGION	Nuclear hormone receptor interaction (Potential).	lost
534	580	ZN_FING	PHD-type.	might get lost (downstream of altered splice site)
570	570	CONFLICT	M -> I (in Ref. 3; AK026488).	might get lost (downstream of altered splice site)
581	676	DOMAIN	Bromo.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

1926 / 1926

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

1867

theoretical NMD boundary in CDS

1558

length of CDS

1668

coding sequence (CDS) position

1586

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

1844

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

48169

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

231042276

original gDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered gDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

original cDNA sequence snippet

GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA

altered cDNA sequence snippet

GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA

wildtype AA sequence

MGRGFRMFTM TRAMEEALFQ HFMHQKLGIA YAIHKPFPFF EGLLDNSIIT KRMYMESLEA
CRNLIPVSRV VHNILTQLER TFNLSLLVTL FSQINLREYP NLVTIYRSFK RVGASYEWQS
RDTPILLEAP TGLAEGSSLH TPLALPPPQP PQPSCSPCAP RVSEPGTSSQ QSDEILSESP
SPSDPVLPLP ALIQEGRSTS VTNDKLTSKM NAEEDSEEMP SLLTSTVQVA SDNLIPQIRD
KEDPQEMPHS PLGSMPEIRD NSPEPNDPEE PQEVSSTPSD KKGKKRKRCI WSTPKRRHKK
KSLPGGTASS RHGIQKKLKR VDQVPQKKDD STCNSTVETR AQKARTECAR KSRSEEIIDG
TSEMNEGKRS QKTPSTPRRV TQGAASPGHG IQEKLQVVDK VTQRKDDSTW NSEVMMRVQK
ARTKCARKSR LKEKKKEKDI CSSSKRRFQK NIHRRGKPKS DTVDFHCSKL PVTCGEAKGI
LYKKKMKHGS SVKCIRNEDG TWLTPNEFEV EGKGRNAKNW KRNIRCEGMT LGELLKSGLL
LCPPRINLKR ELNSK*

mutated AA sequence

speed

1.39 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