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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000520777
Querying Taster for transcript #2: ENST00000355826
Querying Taster for transcript #3: ENST00000518681
Querying Taster for transcript #4: ENST00000505820
Querying Taster for transcript #5: ENST00000378712
Querying Taster for transcript #6: ENST00000504599
Querying Taster for transcript #7: ENST00000357210
Querying Taster for transcript #8: ENST00000360522
Querying Taster for transcript #9: ENST00000378710
MT speed 0 s - this script 6.841863 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MIB2	polymorphism_automatic	9.19042619784705e-13	simple_aae				F15L	single base exchange	rs7418389		show file
MIB2	polymorphism_automatic	9.19042619784705e-13	simple_aae				F15L	single base exchange	rs7418389		show file
MIB2	polymorphism_automatic	9.19042619784705e-13	simple_aae				F15L	single base exchange	rs7418389		show file
MIB2	polymorphism_automatic	1.52600154734728e-12	simple_aae				F72L	single base exchange	rs7418389		show file
MIB2	polymorphism_automatic	1.52600154734728e-12	simple_aae				F72L	single base exchange	rs7418389		show file
MIB2	polymorphism_automatic	1.52600154734728e-12	simple_aae				F72L	single base exchange	rs7418389		show file
MIB2	polymorphism_automatic	1.52600154734728e-12	simple_aae				F72L	single base exchange	rs7418389		show file
MIB2	polymorphism_automatic	0.000562306127393053	without_aae					single base exchange	rs7418389		show file
MIB2	polymorphism_automatic	0.000562306127393053	without_aae					single base exchange	rs7418389		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999081 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000357210

Genbank transcript ID

N/A

UniProt peptide

Q96AX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.43T>C
cDNA.259T>C
g.1133T>C

AA changes

F15L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000012961

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000029060

n/a

Ggallus

no alignment

ENSGALG00000001473

n/a

Trubripes

no alignment

ENSTRUG00000005595

n/a

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0086442

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000019608

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3042 / 3042

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

1014 / 1014

position of stopcodon in wt / mu cDNA

3258 / 3258

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

217 / 217

chromosome

strand

last intron/exon boundary

3020

theoretical NMD boundary in CDS

2753

length of CDS

3042

coding sequence (CDS) position

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

259

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MGWKPSEARG QSQSFQASGL QPRSLKAARR ATGRPDRSRA ARPTMDPSAH RSRAAPPNMD
PDPQAGVQVG MRVVRGVDWK WGQQDGGEGG VGTVVELGRH GSPSTPDRTV VVQWDQGTRT
NYRAGYQGAH DLLLYDNAQI GVRHPNIICD CCKKHGLRGM RWKCRVCLDY DLCTQCYMHN
KHELAHAFDR YETAHSRPVT LSPRQGLPRI PLRGIFQGAK VVRGPDWEWG SQDGGEGKPG
RVVDIRGWDV ETGRSVASVT WADGTTNVYR VGHKGKVDLK CVGEAAGGFY YKDHLPRLGK
PAELQRRVSA DSQPFQHGDK VKCLLDTDVL REMQEGHGGW NPRMAEFIGQ TGTVHRITDR
GDVRVQFNHE TRWTFHPGAL TKHHSFWVGD VVRVIGDLDT VKRLQAGHGE WTDDMAPALG
RVGKVVKVFG DGNLRVAVAG QRWTFSPSCL VAYRPEEDAN LDVAERAREN KSSLSVALDK
LRAQKSDPEH PGRLVVEVAL GNAARALDLL RRRPEQVDTK NQGRTALQVA AYLGQVELIR
LLLQARAGVD LPDDEGNTAL HYAALGNQPE ATRVLLSAGC RADAINSTQS TALHVAVQRG
FLEVVRALCE RGCDVNLPDA HSDTPLHSAI SAGTGASGIV EVLTEVPNID VTATNSQGFT
LLHHASLKGH ALAVRKILAR ARQLVDAKKE DGFTALHLAA LNNHREVAQI LIREGRCDVN
VRNRKLQSPL HLAVQQAHVG LVPLLVDAGC SVNAEDEEGD TALHVALQRH QLLPLVADGA
GGDPGPLQLL SRLQASGLPG SAELTVGAAV ACFLALEGAD VSYTNHRGRS PLDLAAEGRV
LKALQGCAQR FRERQAGGGA APGPRQTLGT PNTVTNLHVG AAPGPEAAEC LVCSELALLV
LFSPCQHRTV CEECARRMKK CIRCQVVVSK KLRPDGSEVA SAAPAPGPPR QLVEELQSRY
RQMEERITCP ICIDSHIRLV FQCGHGACAP CGSALSACPI CRQPIRDRIQ IFV*

mutated AA sequence

MGWKPSEARG QSQSLQASGL QPRSLKAARR ATGRPDRSRA ARPTMDPSAH RSRAAPPNMD
PDPQAGVQVG MRVVRGVDWK WGQQDGGEGG VGTVVELGRH GSPSTPDRTV VVQWDQGTRT
NYRAGYQGAH DLLLYDNAQI GVRHPNIICD CCKKHGLRGM RWKCRVCLDY DLCTQCYMHN
KHELAHAFDR YETAHSRPVT LSPRQGLPRI PLRGIFQGAK VVRGPDWEWG SQDGGEGKPG
RVVDIRGWDV ETGRSVASVT WADGTTNVYR VGHKGKVDLK CVGEAAGGFY YKDHLPRLGK
PAELQRRVSA DSQPFQHGDK VKCLLDTDVL REMQEGHGGW NPRMAEFIGQ TGTVHRITDR
GDVRVQFNHE TRWTFHPGAL TKHHSFWVGD VVRVIGDLDT VKRLQAGHGE WTDDMAPALG
RVGKVVKVFG DGNLRVAVAG QRWTFSPSCL VAYRPEEDAN LDVAERAREN KSSLSVALDK
LRAQKSDPEH PGRLVVEVAL GNAARALDLL RRRPEQVDTK NQGRTALQVA AYLGQVELIR
LLLQARAGVD LPDDEGNTAL HYAALGNQPE ATRVLLSAGC RADAINSTQS TALHVAVQRG
FLEVVRALCE RGCDVNLPDA HSDTPLHSAI SAGTGASGIV EVLTEVPNID VTATNSQGFT
LLHHASLKGH ALAVRKILAR ARQLVDAKKE DGFTALHLAA LNNHREVAQI LIREGRCDVN
VRNRKLQSPL HLAVQQAHVG LVPLLVDAGC SVNAEDEEGD TALHVALQRH QLLPLVADGA
GGDPGPLQLL SRLQASGLPG SAELTVGAAV ACFLALEGAD VSYTNHRGRS PLDLAAEGRV
LKALQGCAQR FRERQAGGGA APGPRQTLGT PNTVTNLHVG AAPGPEAAEC LVCSELALLV
LFSPCQHRTV CEECARRMKK CIRCQVVVSK KLRPDGSEVA SAAPAPGPPR QLVEELQSRY
RQMEERITCP ICIDSHIRLV FQCGHGACAP CGSALSACPI CRQPIRDRIQ IFV*

speed

1.08 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: 0.999999999999081 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000360522

Genbank transcript ID

N/A

UniProt peptide

Q96AX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.43T>C
cDNA.259T>C
g.1133T>C

AA changes

F15L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000012961

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000029060

n/a

Ggallus

no alignment

ENSGALG00000001473

n/a

Trubripes

no alignment

ENSTRUG00000005595

n/a

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0086442

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000019608

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2937 / 2937

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

979 / 979

position of stopcodon in wt / mu cDNA

3153 / 3153

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

217 / 217

chromosome

strand

last intron/exon boundary

2915

theoretical NMD boundary in CDS

2648

length of CDS

2937

coding sequence (CDS) position

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

259

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MGWKPSEARG QSQSFQASGL QPRSLKAARR ATGRPDRSRA ARPTMDPSAH RSRAAPPNMD
PDPQAGVQVG MRVVRGVDWK WGQQDGGEGG VGTVVELGRH GSPSTPDRTV VVQWDQGTRT
NYRAGYQGAH DLLLYDNAQI GVRHPNIICD CCKKHGLRGM RWKCRVCLDY DLCTQCYMHN
KHELAHAFDR YETAHSRPVT LSPRQGLPRI PLRGIFQGAK VVRGPDWEWG SQDGGEGKPG
RVVDIRGWDV ETGRSVASVT WADGTTNVYR VGHKGKVDLK CVGEAAGGFY YKDHLPRLGK
PAELQRRVSA DSQPFQHGDK VKCLLDTDVL REMQEGHGGW NPRMAEFIGQ TGTVHRITDR
GDVRVQFNHE TRWTFHPGAL TKALGRVGKV VKVFGDGNLR VAVAGQRWTF SPSCLVAYRP
EEDANLDVAE RARENKSSLS VALDKLRAQK SDPEHPGRLV VEVALGNAAR ALDLLRRRPE
QVDTKNQGRT ALQVAAYLGQ VELIRLLLQA RAGVDLPDDE GNTALHYAAL GNQPEATRVL
LSAGCRADAI NSTQSTALHV AVQRGFLEVV RALCERGCDV NLPDAHSDTP LHSAISAGTG
ASGIVEVLTE VPNIDVTATN SQGFTLLHHA SLKGHALAVR KILARARQLV DAKKEDGFTA
LHLAALNNHR EVAQILIREG RCDVNVRNRK LQSPLHLAVQ QAHVGLVPLL VDAGCSVNAE
DEEGDTALHV ALQRHQLLPL VADGAGGDPG PLQLLSRLQA SGLPGSAELT VGAAVACFLA
LEGADVSYTN HRGRSPLDLA AEGRVLKALQ GCAQRFRERQ AGGGAAPGPR QTLGTPNTVT
NLHVGAAPGP EAAECLVCSE LALLVLFSPC QHRTVCEECA RRMKKCIRCQ VVVSKKLRPD
GSEVASAAPA PGPPRQLVEE LQSRYRQMEE RITCPICIDS HIRLVFQCGH GACAPCGSAL
SACPICRQPI RDRIQIFV*

mutated AA sequence

MGWKPSEARG QSQSLQASGL QPRSLKAARR ATGRPDRSRA ARPTMDPSAH RSRAAPPNMD
PDPQAGVQVG MRVVRGVDWK WGQQDGGEGG VGTVVELGRH GSPSTPDRTV VVQWDQGTRT
NYRAGYQGAH DLLLYDNAQI GVRHPNIICD CCKKHGLRGM RWKCRVCLDY DLCTQCYMHN
KHELAHAFDR YETAHSRPVT LSPRQGLPRI PLRGIFQGAK VVRGPDWEWG SQDGGEGKPG
RVVDIRGWDV ETGRSVASVT WADGTTNVYR VGHKGKVDLK CVGEAAGGFY YKDHLPRLGK
PAELQRRVSA DSQPFQHGDK VKCLLDTDVL REMQEGHGGW NPRMAEFIGQ TGTVHRITDR
GDVRVQFNHE TRWTFHPGAL TKALGRVGKV VKVFGDGNLR VAVAGQRWTF SPSCLVAYRP
EEDANLDVAE RARENKSSLS VALDKLRAQK SDPEHPGRLV VEVALGNAAR ALDLLRRRPE
QVDTKNQGRT ALQVAAYLGQ VELIRLLLQA RAGVDLPDDE GNTALHYAAL GNQPEATRVL
LSAGCRADAI NSTQSTALHV AVQRGFLEVV RALCERGCDV NLPDAHSDTP LHSAISAGTG
ASGIVEVLTE VPNIDVTATN SQGFTLLHHA SLKGHALAVR KILARARQLV DAKKEDGFTA
LHLAALNNHR EVAQILIREG RCDVNVRNRK LQSPLHLAVQ QAHVGLVPLL VDAGCSVNAE
DEEGDTALHV ALQRHQLLPL VADGAGGDPG PLQLLSRLQA SGLPGSAELT VGAAVACFLA
LEGADVSYTN HRGRSPLDLA AEGRVLKALQ GCAQRFRERQ AGGGAAPGPR QTLGTPNTVT
NLHVGAAPGP EAAECLVCSE LALLVLFSPC QHRTVCEECA RRMKKCIRCQ VVVSKKLRPD
GSEVASAAPA PGPPRQLVEE LQSRYRQMEE RITCPICIDS HIRLVFQCGH GACAPCGSAL
SACPICRQPI RDRIQIFV*

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999081 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000378710

Genbank transcript ID

N/A

UniProt peptide

Q96AX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.43T>C
cDNA.259T>C
g.1133T>C

AA changes

F15L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000012961

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000029060

n/a

Ggallus

no alignment

ENSGALG00000001473

n/a

Trubripes

no alignment

ENSTRUG00000005595

n/a

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0086442

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000019608

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2934 / 2934

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

978 / 978

position of stopcodon in wt / mu cDNA

3150 / 3150

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

217 / 217

chromosome

strand

last intron/exon boundary

2912

theoretical NMD boundary in CDS

2645

length of CDS

2934

coding sequence (CDS) position

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

259

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MGWKPSEARG QSQSFQASGL QPRSLKAARR ATGRPDRSRA ARPTMDPSAH RSRAAPPNMD
PDPQAGVQVG MRVVRGVDWK WGQQDGGEGG VGTVVELGRH GSPSTPDRTV VVQWDQGTRT
NYRAGYQGAH DLLLYDNAQI GVRHPNIICD CCKKHGLRGM RWKCRVCLDY DLCTQCYMHN
KHELAHAFDR YETAHSRPVT LSPRQGLPRI PLRGIFQGAK VVRGPDWEWG SQDGGEGKPG
RVVDIRGWDV ETGRSVASVT WADGTTNVYR VGHKGKVDLK CVGEAAGGFY YKDHLPRLGK
PAELQRRVSA DSQPFQHGDK VKCLLDTDVL REMQEGHGGW NPRMAEHHSF WVGDVVRVIG
DLDTVKRLQA GHGEWTDDMA PALGRVGKVV KVFGDGNLRV AVAGQRWTFS PSCLVAYRPE
EDANLDVAER ARENKSSLSV ALDKLRAQKS DPEHPGRLVV EVALGNAARA LDLLRRRPEQ
VDTKNQGRTA LQVAAYLGQV ELIRLLLQAR AGVDLPDDEG NTALHYAALG NQPEATRVLL
SAGCRADAIN STQSTALHVA VQRGFLEVVR ALCERGCDVN LPDAHSDTPL HSAISAGTGA
SGIVEVLTEV PNIDVTATNS QGFTLLHHAS LKGHALAVRK ILARARQLVD AKKEDGFTAL
HLAALNNHRE VAQILIREGR CDVNVRNRKL QSPLHLAVQQ AHVGLVPLLV DAGCSVNAED
EEGDTALHVA LQRHQLLPLV ADGAGGDPGP LQLLSRLQAS GLPGSAELTV GAAVACFLAL
EGADVSYTNH RGRSPLDLAA EGRVLKALQG CAQRFRERQA GGGAAPGPRQ TLGTPNTVTN
LHVGAAPGPE AAECLVCSEL ALLVLFSPCQ HRTVCEECAR RMKKCIRCQV VVSKKLRPDG
SEVASAAPAP GPPRQLVEEL QSRYRQMEER ITCPICIDSH IRLVFQCGHG ACAPCGSALS
ACPICRQPIR DRIQIFV*

mutated AA sequence

MGWKPSEARG QSQSLQASGL QPRSLKAARR ATGRPDRSRA ARPTMDPSAH RSRAAPPNMD
PDPQAGVQVG MRVVRGVDWK WGQQDGGEGG VGTVVELGRH GSPSTPDRTV VVQWDQGTRT
NYRAGYQGAH DLLLYDNAQI GVRHPNIICD CCKKHGLRGM RWKCRVCLDY DLCTQCYMHN
KHELAHAFDR YETAHSRPVT LSPRQGLPRI PLRGIFQGAK VVRGPDWEWG SQDGGEGKPG
RVVDIRGWDV ETGRSVASVT WADGTTNVYR VGHKGKVDLK CVGEAAGGFY YKDHLPRLGK
PAELQRRVSA DSQPFQHGDK VKCLLDTDVL REMQEGHGGW NPRMAEHHSF WVGDVVRVIG
DLDTVKRLQA GHGEWTDDMA PALGRVGKVV KVFGDGNLRV AVAGQRWTFS PSCLVAYRPE
EDANLDVAER ARENKSSLSV ALDKLRAQKS DPEHPGRLVV EVALGNAARA LDLLRRRPEQ
VDTKNQGRTA LQVAAYLGQV ELIRLLLQAR AGVDLPDDEG NTALHYAALG NQPEATRVLL
SAGCRADAIN STQSTALHVA VQRGFLEVVR ALCERGCDVN LPDAHSDTPL HSAISAGTGA
SGIVEVLTEV PNIDVTATNS QGFTLLHHAS LKGHALAVRK ILARARQLVD AKKEDGFTAL
HLAALNNHRE VAQILIREGR CDVNVRNRKL QSPLHLAVQQ AHVGLVPLLV DAGCSVNAED
EEGDTALHVA LQRHQLLPLV ADGAGGDPGP LQLLSRLQAS GLPGSAELTV GAAVACFLAL
EGADVSYTNH RGRSPLDLAA EGRVLKALQG CAQRFRERQA GGGAAPGPRQ TLGTPNTVTN
LHVGAAPGPE AAECLVCSEL ALLVLFSPCQ HRTVCEECAR RMKKCIRCQV VVSKKLRPDG
SEVASAAPAP GPPRQLVEEL QSRYRQMEER ITCPICIDSH IRLVFQCGHG ACAPCGSALS
ACPICRQPIR DRIQIFV*

speed

0.60 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998474 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000520777

Genbank transcript ID

NM_001170686

UniProt peptide

Q96AX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.214T>C
cDNA.259T>C
g.1133T>C

AA changes

F72L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000012961

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000029060

n/a

Ggallus

no alignment

ENSGALG00000001473

n/a

Trubripes

no alignment

ENSTRUG00000005595

n/a

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0086442

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000019608

n/a

protein features

start (aa)	end (aa)	feature	details
59	138	DOMAIN	MIB/HERC2 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3201 / 3201

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

1067 / 1067

position of stopcodon in wt / mu cDNA

3246 / 3246

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

46 / 46

chromosome

strand

last intron/exon boundary

3008

theoretical NMD boundary in CDS

2912

length of CDS

3201

coding sequence (CDS) position

214

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

259

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SFQASGLQPR SLKAARRATG RPDRSRAARP TMDPSAHRSR AAPPNMDPDP
QAGVQVGMRV VRGVDWKWGQ QDGGEGGVGT VVELGRHGSP STPDRTVVVQ WDQGTRTNYR
AGYQGAHDLL LYDNAQIGVR HPNIICDCCK KHGLRGMRWK CRVCLDYDLC TQCYMHNKHE
LAHAFDRYET AHSRPVTLSP RQGLPRIPLR GIFQGAKVVR GPDWEWGSQD GGEGKPGRVV
DIRGWDVETG RSVASVTWAD GTTNVYRVGH KGKVDLKCVG EAAGGFYYKD HLPRLGKPAE
LQRRVSADSQ PFQHGDKVKC LLDTDVLREM QEGHGGWNPR MAETGTVHRI TDRGDVRVQF
NHETRWTFHP GALTKHHSFW VGDVVRVIGD LDTVKRLQAG HGEWTDDMAP ALGRVGKVVK
VFGDGNLRVA VAGQRWTFSP SCLVAYRPEE DANLDVAERA RENKSSLSVA LDKLRAQKSD
PEHPGRLVVE VALGNAARAL DLLRRRPEQV DTKNQGRTAL QVAAYLGQVE LIRLLLQARA
GVDLPDDEGN TALHYAALGN QPEATRVLLS AGCRADAINS TQSTALHVAV QRGFLEVVRA
LCERGCDVNL PDAHSDTPLH SAISAGTGAS GIVEVLTEVP NIDVTATNSQ GFTLLHHASL
KGHALAVRKI LARARQLVDA KKEDGFTALH LAALNNHREV AQILIREGRC DVNVRNRKLQ
SPLHLAVQQA HVGLVPLLVD AGCSVNAEDE EGDTALHVAL QRHQLLPLVA DGAGGDPGPL
QLLSRLQASG LPGSAELTVG AAVACFLALE GADVSYTNHR GRSPLDLAAE GRVLKALQGC
AQRFRERQAG GGAAPGPRQT LGTPNTVTNL HVGAAPGPEA AECLVCSELA LLVLFSPCQH
RTVCEECARR MKKCIRCQVV VSKKLRPDGS EVASAAPAPG PPRQLVEELQ SRYRQMEERI
TCPICIDSHI RLVFQCGHGA CAPCGSALSA CPICRQPIRD RIQIFV*

mutated AA sequence

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SLQASGLQPR SLKAARRATG RPDRSRAARP TMDPSAHRSR AAPPNMDPDP
QAGVQVGMRV VRGVDWKWGQ QDGGEGGVGT VVELGRHGSP STPDRTVVVQ WDQGTRTNYR
AGYQGAHDLL LYDNAQIGVR HPNIICDCCK KHGLRGMRWK CRVCLDYDLC TQCYMHNKHE
LAHAFDRYET AHSRPVTLSP RQGLPRIPLR GIFQGAKVVR GPDWEWGSQD GGEGKPGRVV
DIRGWDVETG RSVASVTWAD GTTNVYRVGH KGKVDLKCVG EAAGGFYYKD HLPRLGKPAE
LQRRVSADSQ PFQHGDKVKC LLDTDVLREM QEGHGGWNPR MAETGTVHRI TDRGDVRVQF
NHETRWTFHP GALTKHHSFW VGDVVRVIGD LDTVKRLQAG HGEWTDDMAP ALGRVGKVVK
VFGDGNLRVA VAGQRWTFSP SCLVAYRPEE DANLDVAERA RENKSSLSVA LDKLRAQKSD
PEHPGRLVVE VALGNAARAL DLLRRRPEQV DTKNQGRTAL QVAAYLGQVE LIRLLLQARA
GVDLPDDEGN TALHYAALGN QPEATRVLLS AGCRADAINS TQSTALHVAV QRGFLEVVRA
LCERGCDVNL PDAHSDTPLH SAISAGTGAS GIVEVLTEVP NIDVTATNSQ GFTLLHHASL
KGHALAVRKI LARARQLVDA KKEDGFTALH LAALNNHREV AQILIREGRC DVNVRNRKLQ
SPLHLAVQQA HVGLVPLLVD AGCSVNAEDE EGDTALHVAL QRHQLLPLVA DGAGGDPGPL
QLLSRLQASG LPGSAELTVG AAVACFLALE GADVSYTNHR GRSPLDLAAE GRVLKALQGC
AQRFRERQAG GGAAPGPRQT LGTPNTVTNL HVGAAPGPEA AECLVCSELA LLVLFSPCQH
RTVCEECARR MKKCIRCQVV VSKKLRPDGS EVASAAPAPG PPRQLVEELQ SRYRQMEERI
TCPICIDSHI RLVFQCGHGA CAPCGSALSA CPICRQPIRD RIQIFV*

speed

1.09 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998474 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000355826

Genbank transcript ID

NM_001170687

UniProt peptide

Q96AX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.214T>C
cDNA.253T>C
g.1133T>C

AA changes

F72L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000012961

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000029060

n/a

Ggallus

no alignment

ENSGALG00000001473

n/a

Trubripes

no alignment

ENSTRUG00000005595

n/a

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0086442

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000019608

n/a

protein features

start (aa)	end (aa)	feature	details
59	138	DOMAIN	MIB/HERC2 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3171 / 3171

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

1057 / 1057

position of stopcodon in wt / mu cDNA

3210 / 3210

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

40 / 40

chromosome

strand

last intron/exon boundary

2972

theoretical NMD boundary in CDS

2882

length of CDS

3171

coding sequence (CDS) position

214

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

253

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SFQASGLQPR SLKAARRATG RPDRSRAAPP NMDPDPQAGV QVGMRVVRGV
DWKWGQQDGG EGGVGTVVEL GRHGSPSTPD RTVVVQWDQG TRTNYRAGYQ GAHDLLLYDN
AQIGVRHPNI ICDCCKKHGL RGMRWKCRVC LDYDLCTQCY MHNKHELAHA FDRYETAHSR
PVTLSPRQGL PRIPLRGIFQ GAKVVRGPDW EWGSQDGGEG KPGRVVDIRG WDVETGRSVA
SVTWADGTTN VYRVGHKGKV DLKCVGEAAG GFYYKDHLPR LGKPAELQRR VSADSQPFQH
GDKVKCLLDT DVLREMQEGH GGWNPRMAEF IGQTGTVHRI TDRGDVRVQF NHETRWTFHP
GALTKHHSFW VGDVVRVIGD LDTVKRLQAG HGEWTDDMAP ALGRVGKVVK VFGDGNLRVA
VAGQRWTFSP SCLVAYRPEE DANLDVAERA RENKSSLSVA LDKLRAQKSD PEHPGRLVVE
VALGNAARAL DLLRRRPEQV DTKNQGRTAL QVAAYLGQVE LIRLLLQARA GVDLPDDEGN
TALHYAALGN QPEATRVLLS AGCRADAINS TQSTALHVAV QRGFLEVVRA LCERGCDVNL
PDAHSDTPLH SAISAGTGAS GIVEVLTEVP NIDVTATNSQ GFTLLHHASL KGHALAVRKI
LARARQLVDA KKEDGFTALH LAALNNHREV AQILIREGRC DVNVRNRKLQ SPLHLAVQQA
HVGLVPLLVD AGCSVNAEDE EGDTALHVAL QRHQLLPLVA DGAGGDPGPL QLLSRLQASG
LPGSAELTVG AAVACFLALE GADVSYTNHR GRSPLDLAAE GRVLKALQGC AQRFRERQAG
GGAAPGPRQT LGTPNTVTNL HVGAAPGPEA AECLVCSELA LLVLFSPCQH RTVCEECARR
MKKCIRCQVV VSKKLRPDGS EVASAAPAPG PPRQLVEELQ SRYRQMEERI TCPICIDSHI
RLVFQCGHGA CAPCGSALSA CPICRQPIRD RIQIFV*

mutated AA sequence

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SLQASGLQPR SLKAARRATG RPDRSRAAPP NMDPDPQAGV QVGMRVVRGV
DWKWGQQDGG EGGVGTVVEL GRHGSPSTPD RTVVVQWDQG TRTNYRAGYQ GAHDLLLYDN
AQIGVRHPNI ICDCCKKHGL RGMRWKCRVC LDYDLCTQCY MHNKHELAHA FDRYETAHSR
PVTLSPRQGL PRIPLRGIFQ GAKVVRGPDW EWGSQDGGEG KPGRVVDIRG WDVETGRSVA
SVTWADGTTN VYRVGHKGKV DLKCVGEAAG GFYYKDHLPR LGKPAELQRR VSADSQPFQH
GDKVKCLLDT DVLREMQEGH GGWNPRMAEF IGQTGTVHRI TDRGDVRVQF NHETRWTFHP
GALTKHHSFW VGDVVRVIGD LDTVKRLQAG HGEWTDDMAP ALGRVGKVVK VFGDGNLRVA
VAGQRWTFSP SCLVAYRPEE DANLDVAERA RENKSSLSVA LDKLRAQKSD PEHPGRLVVE
VALGNAARAL DLLRRRPEQV DTKNQGRTAL QVAAYLGQVE LIRLLLQARA GVDLPDDEGN
TALHYAALGN QPEATRVLLS AGCRADAINS TQSTALHVAV QRGFLEVVRA LCERGCDVNL
PDAHSDTPLH SAISAGTGAS GIVEVLTEVP NIDVTATNSQ GFTLLHHASL KGHALAVRKI
LARARQLVDA KKEDGFTALH LAALNNHREV AQILIREGRC DVNVRNRKLQ SPLHLAVQQA
HVGLVPLLVD AGCSVNAEDE EGDTALHVAL QRHQLLPLVA DGAGGDPGPL QLLSRLQASG
LPGSAELTVG AAVACFLALE GADVSYTNHR GRSPLDLAAE GRVLKALQGC AQRFRERQAG
GGAAPGPRQT LGTPNTVTNL HVGAAPGPEA AECLVCSELA LLVLFSPCQH RTVCEECARR
MKKCIRCQVV VSKKLRPDGS EVASAAPAPG PPRQLVEELQ SRYRQMEERI TCPICIDSHI
RLVFQCGHGA CAPCGSALSA CPICRQPIRD RIQIFV*

speed

1.12 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998474 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000518681

Genbank transcript ID

NM_001170688

UniProt peptide

Q96AX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.214T>C
cDNA.237T>C
g.1133T>C

AA changes

F72L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000012961

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000029060

n/a

Ggallus

no alignment

ENSGALG00000001473

n/a

Trubripes

no alignment

ENSTRUG00000005595

n/a

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0086442

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000019608

n/a

protein features

start (aa)	end (aa)	feature	details
59	138	DOMAIN	MIB/HERC2 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3018 / 3018

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

1006 / 1006

position of stopcodon in wt / mu cDNA

3041 / 3041

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

24 / 24

chromosome

strand

last intron/exon boundary

2803

theoretical NMD boundary in CDS

2729

length of CDS

3018

coding sequence (CDS) position

214

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

237

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SFQASGLQPR SLKAARRATG RPDRSRAARP TMDPSAHRSR AAPPNMDPDP
QAGVQVGMRV VRGVDWKWGQ QDGGEGGVGT VVELGRHGSP STPDRTVVVQ WDQGTRTNYR
AGYQGAHDLL LYDNAQIGVR HPNIICDCCK KHGLRGMRWK CRVCLDYDLC TQCYMHNKHE
LAHAFDRYET AHSRPVTLSP RQGLPRIPLR GIFQGAKVVR GPDWEWGSQD GKPAELQRRV
SADSQPFQHG DKVKCLLDTD VLREMQEGHG GWNPRMAEFI GQTGTVHRIT DRGDVRVQFN
HETRWTFHPG ALTKHHSFWV GDVVRVIGDL DTVKRLQAGH GEWTDDMAPA LGRVGKVVKV
FGDGNLRVAV AGQRWTFSPS CLVAYRPEED ANLDVAERAR ENKSSLSVAL DKLRAQKSDP
EHPGRLVVEV ALGNAARALD LLRRRPEQVD TKNQGRTALQ VAAYLGQVEL IRLLLQARAG
VDLPDDEGNT ALHYAALGNQ PEATRVLLSA GCRADAINST QSTALHVAVQ RGFLEVVRAL
CERGCDVNLP DAHSDTPLHS AISAGTGASG IVEVLTEVPN IDVTATNSQG FTLLHHASLK
GHALAVRKIL ARARQLVDAK KEDGFTALHL AALNNHREVA QILIREGRCD VNVRNRKLQS
PLHLAVQQAH VGLVPLLVDA GCSVNAEDEE GDTALHVALQ RHQLLPLVAD GAGGDPGPLQ
LLSRLQASGL PGSAELTVGA AVACFLALEG ADVSYTNHRG RSPLDLAAEG RVLKALQGCA
QRFRERQAGG GAAPGPRQTL GTPNTVTNLH VGAAPGPEAA ECLVCSELAL LVLFSPCQHR
TVCEECARRM KKCIRCQVVV SKKLRPDGSE VASAAPAPGP PRQLVEELQS RYRQMEERIT
CPICIDSHIR LVFQCGHGAC APCGSALSAC PICRQPIRDR IQIFV*

mutated AA sequence

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SLQASGLQPR SLKAARRATG RPDRSRAARP TMDPSAHRSR AAPPNMDPDP
QAGVQVGMRV VRGVDWKWGQ QDGGEGGVGT VVELGRHGSP STPDRTVVVQ WDQGTRTNYR
AGYQGAHDLL LYDNAQIGVR HPNIICDCCK KHGLRGMRWK CRVCLDYDLC TQCYMHNKHE
LAHAFDRYET AHSRPVTLSP RQGLPRIPLR GIFQGAKVVR GPDWEWGSQD GKPAELQRRV
SADSQPFQHG DKVKCLLDTD VLREMQEGHG GWNPRMAEFI GQTGTVHRIT DRGDVRVQFN
HETRWTFHPG ALTKHHSFWV GDVVRVIGDL DTVKRLQAGH GEWTDDMAPA LGRVGKVVKV
FGDGNLRVAV AGQRWTFSPS CLVAYRPEED ANLDVAERAR ENKSSLSVAL DKLRAQKSDP
EHPGRLVVEV ALGNAARALD LLRRRPEQVD TKNQGRTALQ VAAYLGQVEL IRLLLQARAG
VDLPDDEGNT ALHYAALGNQ PEATRVLLSA GCRADAINST QSTALHVAVQ RGFLEVVRAL
CERGCDVNLP DAHSDTPLHS AISAGTGASG IVEVLTEVPN IDVTATNSQG FTLLHHASLK
GHALAVRKIL ARARQLVDAK KEDGFTALHL AALNNHREVA QILIREGRCD VNVRNRKLQS
PLHLAVQQAH VGLVPLLVDA GCSVNAEDEE GDTALHVALQ RHQLLPLVAD GAGGDPGPLQ
LLSRLQASGL PGSAELTVGA AVACFLALEG ADVSYTNHRG RSPLDLAAEG RVLKALQGCA
QRFRERQAGG GAAPGPRQTL GTPNTVTNLH VGAAPGPEAA ECLVCSELAL LVLFSPCQHR
TVCEECARRM KKCIRCQVVV SKKLRPDGSE VASAAPAPGP PRQLVEELQS RYRQMEERIT
CPICIDSHIR LVFQCGHGAC APCGSALSAC PICRQPIRDR IQIFV*

speed

1.05 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998474 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000505820

Genbank transcript ID

NM_080875

UniProt peptide

Q96AX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.214T>C
cDNA.231T>C
g.1133T>C

AA changes

F72L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000012961

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000029060

n/a

Ggallus

no alignment

ENSGALG00000001473

n/a

Trubripes

no alignment

ENSTRUG00000005595

n/a

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0086442

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000019608

n/a

protein features

start (aa)	end (aa)	feature	details
59	138	DOMAIN	MIB/HERC2 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3213 / 3213

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

1071 / 1071

position of stopcodon in wt / mu cDNA

3230 / 3230

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

18 / 18

chromosome

strand

last intron/exon boundary

2992

theoretical NMD boundary in CDS

2924

length of CDS

3213

coding sequence (CDS) position

214

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

231

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SFQASGLQPR SLKAARRATG RPDRSRAARP TMDPSAHRSR AAPPNMDPDP
QAGVQVGMRV VRGVDWKWGQ QDGGEGGVGT VVELGRHGSP STPDRTVVVQ WDQGTRTNYR
AGYQGAHDLL LYDNAQIGVR HPNIICDCCK KHGLRGMRWK CRVCLDYDLC TQCYMHNKHE
LAHAFDRYET AHSRPVTLSP RQGLPRIPLR GIFQGAKVVR GPDWEWGSQD GGEGKPGRVV
DIRGWDVETG RSVASVTWAD GTTNVYRVGH KGKVDLKCVG EAAGGFYYKD HLPRLGKPAE
LQRRVSADSQ PFQHGDKVKC LLDTDVLREM QEGHGGWNPR MAEFIGQTGT VHRITDRGDV
RVQFNHETRW TFHPGALTKH HSFWVGDVVR VIGDLDTVKR LQAGHGEWTD DMAPALGRVG
KVVKVFGDGN LRVAVAGQRW TFSPSCLVAY RPEEDANLDV AERARENKSS LSVALDKLRA
QKSDPEHPGR LVVEVALGNA ARALDLLRRR PEQVDTKNQG RTALQVAAYL GQVELIRLLL
QARAGVDLPD DEGNTALHYA ALGNQPEATR VLLSAGCRAD AINSTQSTAL HVAVQRGFLE
VVRALCERGC DVNLPDAHSD TPLHSAISAG TGASGIVEVL TEVPNIDVTA TNSQGFTLLH
HASLKGHALA VRKILARARQ LVDAKKEDGF TALHLAALNN HREVAQILIR EGRCDVNVRN
RKLQSPLHLA VQQAHVGLVP LLVDAGCSVN AEDEEGDTAL HVALQRHQLL PLVADGAGGD
PGPLQLLSRL QASGLPGSAE LTVGAAVACF LALEGADVSY TNHRGRSPLD LAAEGRVLKA
LQGCAQRFRE RQAGGGAAPG PRQTLGTPNT VTNLHVGAAP GPEAAECLVC SELALLVLFS
PCQHRTVCEE CARRMKKCIR CQVVVSKKLR PDGSEVASAA PAPGPPRQLV EELQSRYRQM
EERITCPICI DSHIRLVFQC GHGACAPCGS ALSACPICRQ PIRDRIQIFV *

mutated AA sequence

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SLQASGLQPR SLKAARRATG RPDRSRAARP TMDPSAHRSR AAPPNMDPDP
QAGVQVGMRV VRGVDWKWGQ QDGGEGGVGT VVELGRHGSP STPDRTVVVQ WDQGTRTNYR
AGYQGAHDLL LYDNAQIGVR HPNIICDCCK KHGLRGMRWK CRVCLDYDLC TQCYMHNKHE
LAHAFDRYET AHSRPVTLSP RQGLPRIPLR GIFQGAKVVR GPDWEWGSQD GGEGKPGRVV
DIRGWDVETG RSVASVTWAD GTTNVYRVGH KGKVDLKCVG EAAGGFYYKD HLPRLGKPAE
LQRRVSADSQ PFQHGDKVKC LLDTDVLREM QEGHGGWNPR MAEFIGQTGT VHRITDRGDV
RVQFNHETRW TFHPGALTKH HSFWVGDVVR VIGDLDTVKR LQAGHGEWTD DMAPALGRVG
KVVKVFGDGN LRVAVAGQRW TFSPSCLVAY RPEEDANLDV AERARENKSS LSVALDKLRA
QKSDPEHPGR LVVEVALGNA ARALDLLRRR PEQVDTKNQG RTALQVAAYL GQVELIRLLL
QARAGVDLPD DEGNTALHYA ALGNQPEATR VLLSAGCRAD AINSTQSTAL HVAVQRGFLE
VVRALCERGC DVNLPDAHSD TPLHSAISAG TGASGIVEVL TEVPNIDVTA TNSQGFTLLH
HASLKGHALA VRKILARARQ LVDAKKEDGF TALHLAALNN HREVAQILIR EGRCDVNVRN
RKLQSPLHLA VQQAHVGLVP LLVDAGCSVN AEDEEGDTAL HVALQRHQLL PLVADGAGGD
PGPLQLLSRL QASGLPGSAE LTVGAAVACF LALEGADVSY TNHRGRSPLD LAAEGRVLKA
LQGCAQRFRE RQAGGGAAPG PRQTLGTPNT VTNLHVGAAP GPEAAECLVC SELALLVLFS
PCQHRTVCEE CARRMKKCIR CQVVVSKKLR PDGSEVASAA PAPGPPRQLV EELQSRYRQM
EERITCPICI DSHIRLVFQC GHGACAPCGS ALSACPICRQ PIRDRIQIFV *

speed

1.06 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999437693872607 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000378712

Genbank transcript ID

NM_001170689

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.236T>C
g.1133T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

326 / 326

chromosome

strand

last intron/exon boundary

2578

theoretical NMD boundary in CDS

2202

length of CDS

2262

coding sequence (CDS) position

N/A

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

236

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MDPDPQAGVQ VGMRVVRGVD WKWGQQDGGE GGVGTVVELG RHGSPSTPDR TVVVQWDQGT
RTNYRAGYQG AHDLLLYDNA QIGVRHPNII CDCCKKHGLR GMRWKCRVCL DYDLCTQCYM
HNKHELAHAF DRYETAHSRP VTLSPRQGLP RIPLRGIFQG AKVVRGPDWE WGSQDGKPAE
LQRRVSADSQ PFQHGDKVKC LLDTDVLREM QEGHGGWNPR MAEFIGQTGT VHRITDRGDV
RVQFNHETRW TFHPGALTKH HSFWVGDVVR VIGDLDTVKR LQAGHGEWTD DMAPALGRVG
KVVKVFGDGN LRVAVAGQRW TFSPSCLVAY RPEEDANLDV AERARENKSS LSVALDKLRA
QKSDPEHPGR LVVEVALGNA ARALDLLRRR PEQVDTKNQG RTALQVAAYL GQVELIRLLL
QARAGVDLPD DEGNTALHYA ALGNQPEATR VLLSAGCRAD AINSTQSTAL HVAVQRGFLE
VVRALCERGC DVNLPDAHSD TPLHSAISAG TGASGIVEVL TEVPNIDVTA TNSQGFTLLH
HASLKGHALA VRKILARARQ LVDAKKEDGF TALHLAALNN HREVAQILIR EGRCDVNVRN
RKLQSPLHLA VQQAHVGLVP LLVDAGCSVN AEDEEGDTAL HVALQRHQLL PLVADGAGGD
PGPLQLLSRL QASGLPGSAE LTVGAAVACF LALEGADVSY TNHRGRSPLD LAAEGRVLKA
LQGCAQRFRV RAQDEEVHQV PGGRQQETAP RRL*

mutated AA sequence

N/A

speed

0.84 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999437693872607 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000504599

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.238T>C
g.1133T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

328 / 328

chromosome

strand

last intron/exon boundary

2999

theoretical NMD boundary in CDS

2621

length of CDS

2910

coding sequence (CDS) position

N/A

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

238

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MDPSAHRSRA APPNMDPDPQ AGVQVGMRVV RGVDWKWGQQ DGGEGGVGTV VELGRHGSPS
TPDRTVVVQW DQGTRTNYRA GYQGAHDLLL YDNAQIGVRH PNIICDCCKK HGLRGMRWKC
RVCLDYDLCT QCYMHNKHEL AHAFDRYETA HSRPVTLSPR QGLPRIPLRG IFQGAKVVRG
PDWEWGSQDG GEGKPGRVVD IRGWDVETGR SVASVTWADG TTNVYRVGHK GKVDLKCVGE
AAGGFYYKDH LPRLGKPAEL QRRVSADSQP FQHGDKVKCL LDTDVLREMQ EGHGGWNPRM
AEFIGQTGTV HRITDRGDVR VQFNHETRWT FHPGALTKHH SFWVGDVVRV IGDLDTVKRL
QAGHGEWTDD MAPALGRVGK VVKVFGDGNL RVAVAGQRWT FSPSCLVAYR PEEDANLDVA
ERARENKSSL SVALDKLRAQ KSDPEHPGRL VVEVALGNAA RALDLLRRRP EQVDTKNQGR
TALQVAAYLG QVELIRLLLQ ARAGVDLPDD EGNTALHYAA LGNQPEATRV LLSAGCRADA
INSTQSTALH VAVQRGFLEV VRALCERGCD VNLPDAHSDT PLHSAISAGT GASGIVEVLT
EVPNIDVTAT NSQGFTLLHH ASLKGHALAV RKILARARQL VDAKKEDGFT ALHLAALNNH
REVAQILIRE GRCDVNVRNR KLQSPLHLAV QQAHVGLVPL LVDAGCSVNA EDEEGDTALH
VALQRHQLLP LVADGAGGDP GPLQLLSRLQ ASGLPGSAEL TVGAAVACFL ALEGADVSYT
NHRGRSPLDL AAEGRVLKAL QGCAQRFRER QAGGGAAPGP RQTLGTPNTV TNLHVGAAPG
PEAAECLVCS ELALLVLFSP CQHRTVCEEC ARRMKKCIRC QVVVSKKLRP DGSEVASAAP
APGPPRQLVE ELQSRYRQME ERITCPICID SHIRLVFQCG HGACAPCGSA LSACPICRQP
IRDRIQIFV*

mutated AA sequence

N/A

speed

0.82 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems