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 14 transcript(s)...
Querying Taster for transcript #1: ENST00000529984
Querying Taster for transcript #2: ENST00000372104
Querying Taster for transcript #3: ENST00000448481
Querying Taster for transcript #4: ENST00000456914
Querying Taster for transcript #5: ENST00000354383
Querying Taster for transcript #6: ENST00000355498
Querying Taster for transcript #7: ENST00000372098
Querying Taster for transcript #8: ENST00000372110
Querying Taster for transcript #9: ENST00000372115
Querying Taster for transcript #10: ENST00000488731
Querying Taster for transcript #11: ENST00000531105
Querying Taster for transcript #12: ENST00000528332
Querying Taster for transcript #13: ENST00000450313
Querying Taster for transcript #14: ENST00000372100
MT speed 0 s - this script 6.034574 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MUTYH	polymorphism_automatic	0.053812066505279	simple_aae		affected		Q321H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.053812066505279	simple_aae		affected		Q335H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.053812066505279	simple_aae		affected		Q325H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.053812066505279	simple_aae		affected		Q324H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.053812066505279	simple_aae		affected		Q338H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.053812066505279	simple_aae		affected		Q321H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.257394234704028	simple_aae		affected		Q310H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.257394234704028	simple_aae		affected		Q310H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.257394234704028	simple_aae		affected		Q311H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.257394234704028	simple_aae		affected		Q310H	single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.999999999908777	without_aae		affected			single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.999999999908777	without_aae		affected			single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.999999999908777	without_aae		affected			single base exchange	rs3219489		show file
MUTYH	polymorphism_automatic	0.999999999908777	without_aae		affected			single base exchange	rs3219489		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.946187933494721 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000448481

Genbank transcript ID

N/A

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.963G>C
cDNA.1006G>C
g.8638G>C

AA changes

Q321H Score: 24 explain score(s)

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

321

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

321

mutated

not conserved

321

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

309

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

293

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

position of stopcodon in wt / mu cDNA

1642 / 1642

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

44 / 44

chromosome

strand

-1

last intron/exon boundary

1511

theoretical NMD boundary in CDS

1417

length of CDS

1599

coding sequence (CDS) position

963

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

1006

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL
QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML
QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL
GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL
VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL
LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL
EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR
HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY
QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL
QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML
QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL
GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL
VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL
LASGSLSGSP DVEECAPNTG HCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL
EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR
HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY
QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

speed

0.20 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: 0.946187933494721 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000372098

Genbank transcript ID

NM_012222

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1005G>C
cDNA.1139G>C
g.8638G>C

AA changes

Q335H Score: 24 explain score(s)

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

335

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

335

mutated

not conserved

335

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

309

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

293

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1641 / 1641

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

547 / 547

position of stopcodon in wt / mu cDNA

1775 / 1775

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

135 / 135

chromosome

strand

-1

last intron/exon boundary

1644

theoretical NMD boundary in CDS

1459

length of CDS

1641

coding sequence (CDS) position

1005

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

1139

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG
APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL
DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG
RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL
CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE
SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS
RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE
LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT
AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS
LNSAAQ*

mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG
APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL
DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG
RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL
CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE
SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGHCHLCL PPSEPWDQTL GVVNFPRKAS
RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE
LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT
AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS
LNSAAQ*

speed

0.86 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.946187933494721 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000372110

Genbank transcript ID

N/A

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.975G>C
cDNA.1109G>C
g.8638G>C

AA changes

Q325H Score: 24 explain score(s)

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

325

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

325

mutated

not conserved

325

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

306

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

296

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1611 / 1611

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

537 / 537

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

135 / 135

chromosome

strand

-1

last intron/exon boundary

1614

theoretical NMD boundary in CDS

1429

length of CDS

1611

coding sequence (CDS) position

975

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

1109

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDAGLARQPE
EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS
EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV
VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP
SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE
QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS RKPPREESSA
TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA
THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV
FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ*

mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDAGLARQPE
EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS
EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV
VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP
SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE
QEQLLASGSL SGSPDVEECA PNTGHCHLCL PPSEPWDQTL GVVNFPRKAS RKPPREESSA
TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA
THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV
FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ*

speed

0.47 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.946187933494721 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000372115

Genbank transcript ID

NM_001048171

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.972G>C
cDNA.1188G>C
g.8638G>C

AA changes

Q324H Score: 24 explain score(s)

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

324

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

324

mutated

not conserved

324

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

306

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

296

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1608 / 1608

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

536 / 536

position of stopcodon in wt / mu cDNA

1824 / 1824

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

-1

last intron/exon boundary

1693

theoretical NMD boundary in CDS

1426

length of CDS

1608

coding sequence (CDS) position

972

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

1188

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ
EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT
CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT
HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF
RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ*

mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ
EQLLASGSLS GSPDVEECAP NTGHCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT
CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT
HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF
RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ*

speed

0.49 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.946187933494721 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000450313

Genbank transcript ID

NM_001128425

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1014G>C
cDNA.1230G>C
g.8638G>C

AA changes

Q338H Score: 24 explain score(s)

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

338

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

338

mutated

not conserved

338

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

309

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

293

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		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

1866 / 1866

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

-1

last intron/exon boundary

1735

theoretical NMD boundary in CDS

1468

length of CDS

1650

coding sequence (CDS) position

1014

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

1230

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDACAGMIAE
CPGAPAGLAR QPEEVVLQAS VSSYHLFRDV AEVTAFRGSL LSWYDQEKRD LPWRRRAEDE
MDLDRRAYAV WVSEVMLQQT QVATVINYYT GWMQKWPTLQ DLASASLEEV NQLWAGLGYY
SRGRRLQEGA RKVVEELGGH MPRTAETLQQ LLPGVGRYTA GAIASIAFGQ ATGVVDGNVA
RVLCRVRAIG ADPSSTLVSQ QLWGLAQQLV DPARPGDFNQ AAMELGATVC TPQRPLCSQC
PVESLCRARQ RVEQEQLLAS GSLSGSPDVE ECAPNTGQCH LCLPPSEPWD QTLGVVNFPR
KASRKPPREE SSATCVLEQP GALGAQILLV QRPNSGLLAG LWEFPSVTWE PSEQLQRKAL
LQELQRWAGP LPATHLRHLG EVVHTFSHIK LTYQVYGLAL EGQTPVTTVP PGARWLTQEE
FHTAAVSTAM KKVFRVYQGQ QPGTCMGSKR SQVSSPCSRK KPRMGQQVLD NFFRSHISTD
AHSLNSAAQ*

mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDACAGMIAE
CPGAPAGLAR QPEEVVLQAS VSSYHLFRDV AEVTAFRGSL LSWYDQEKRD LPWRRRAEDE
MDLDRRAYAV WVSEVMLQQT QVATVINYYT GWMQKWPTLQ DLASASLEEV NQLWAGLGYY
SRGRRLQEGA RKVVEELGGH MPRTAETLQQ LLPGVGRYTA GAIASIAFGQ ATGVVDGNVA
RVLCRVRAIG ADPSSTLVSQ QLWGLAQQLV DPARPGDFNQ AAMELGATVC TPQRPLCSQC
PVESLCRARQ RVEQEQLLAS GSLSGSPDVE ECAPNTGHCH LCLPPSEPWD QTLGVVNFPR
KASRKPPREE SSATCVLEQP GALGAQILLV QRPNSGLLAG LWEFPSVTWE PSEQLQRKAL
LQELQRWAGP LPATHLRHLG EVVHTFSHIK LTYQVYGLAL EGQTPVTTVP PGARWLTQEE
FHTAAVSTAM KKVFRVYQGQ QPGTCMGSKR SQVSSPCSRK KPRMGQQVLD NFFRSHISTD
AHSLNSAAQ*

speed

0.16 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.946187933494721 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000372100

Genbank transcript ID

N/A

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.963G>C
cDNA.1109G>C
g.8638G>C

AA changes

Q321H Score: 24 explain score(s)

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

321

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

321

mutated

not conserved

321

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

309

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

293

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

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

147 / 147

chromosome

strand

-1

last intron/exon boundary

1614

theoretical NMD boundary in CDS

1417

length of CDS

1599

coding sequence (CDS) position

963

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

1109

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL
QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML
QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL
GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL
VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL
LASGSLSGSP DVEECAPNTG HCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL
EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR
HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY
QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

speed

0.84 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.742605765295972 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000372104

Genbank transcript ID

N/A

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.930G>C
cDNA.1123G>C
g.8638G>C

AA changes

Q310H Score: 24 explain score(s)

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

310

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

310

mutated

not conserved

310

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

306

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

296

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
304	316	HELIX		lost
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1566 / 1566

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

522 / 522

position of stopcodon in wt / mu cDNA

1759 / 1759

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

194 / 194

chromosome

strand

-1

last intron/exon boundary

1628

theoretical NMD boundary in CDS

1384

length of CDS

1566

coding sequence (CDS) position

930

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

1123

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGH CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

speed

0.41 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.742605765295972 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000456914

Genbank transcript ID

NM_001048174

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.930G>C
cDNA.992G>C
g.8638G>C

AA changes

Q310H Score: 24 explain score(s)

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

310

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

310

mutated

not conserved

310

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

306

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

296

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
304	316	HELIX		lost
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1566 / 1566

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

522 / 522

position of stopcodon in wt / mu cDNA

1628 / 1628

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

63 / 63

chromosome

strand

-1

last intron/exon boundary

1497

theoretical NMD boundary in CDS

1384

length of CDS

1566

coding sequence (CDS) position

930

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

992

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGH CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

speed

0.84 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.742605765295972 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000354383

Genbank transcript ID

NM_001048172

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.933G>C
cDNA.1044G>C
g.8638G>C

AA changes

Q311H Score: 24 explain score(s)

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

311

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

311

mutated

not conserved

311

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

306

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

296

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
304	316	HELIX		lost
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1569 / 1569

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

523 / 523

position of stopcodon in wt / mu cDNA

1680 / 1680

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

112 / 112

chromosome

strand

-1

last intron/exon boundary

1549

theoretical NMD boundary in CDS

1387

length of CDS

1569

coding sequence (CDS) position

933

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

1044

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAG LARQPEEVVL QASVSSYHLF
RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN
YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET
LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ
QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP
DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL EQPGALGAQI
LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS
HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG
SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAG LARQPEEVVL QASVSSYHLF
RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN
YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET
LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ
QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP
DVEECAPNTG HCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL EQPGALGAQI
LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS
HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG
SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

speed

0.42 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.742605765295972 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000355498

Genbank transcript ID

NM_001048173

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.930G>C
cDNA.1076G>C
g.8638G>C

AA changes

Q310H Score: 24 explain score(s)

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

310

frameshift

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

310

mutated

not conserved

310

Ptroglodytes

all identical

ENSPTRG00000024019

335

Mmulatta

all identical

ENSMMUG00000020079

335

Fcatus

all identical

ENSFCAG00000002222

323

Mmusculus

all identical

ENSMUSG00000028687

306

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074889

301

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003533

296

PIAKDVG

protein features

start (aa)	end (aa)	feature	details
304	316	HELIX		lost
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1566 / 1566

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

522 / 522

position of stopcodon in wt / mu cDNA

1712 / 1712

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

147 / 147

chromosome

strand

-1

last intron/exon boundary

1581

theoretical NMD boundary in CDS

1384

length of CDS

1566

coding sequence (CDS) position

930

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

1076

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered cDNA sequence snippet

TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

wildtype AA sequence

mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGH CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

speed

0.33 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.12231374998111e-11 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000529984

Genbank transcript ID

N/A

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

intron

DNA changes

g.8638G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

277

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
87	104	HELIX		might get lost (downstream of altered splice site)
109	116	HELIX		might get lost (downstream of altered splice site)
120	135	HELIX		might get lost (downstream of altered splice site)
139	152	HELIX		might get lost (downstream of altered splice site)
156	160	HELIX		might get lost (downstream of altered splice site)
164	171	HELIX		might get lost (downstream of altered splice site)
177	193	HELIX		might get lost (downstream of altered splice site)
202	208	HELIX		might get lost (downstream of altered splice site)
214	224	HELIX		might get lost (downstream of altered splice site)
234	243	HELIX		might get lost (downstream of altered splice site)
253	266	HELIX		might get lost (downstream of altered splice site)
272	285	HELIX		might get lost (downstream of altered splice site)
287	287	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
289	291	STRAND		might get lost (downstream of altered splice site)
294	294	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
297	297	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
300	302	HELIX		might get lost (downstream of altered splice site)
303	303	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
304	316	HELIX		might get lost (downstream of altered splice site)
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

236 / 236

chromosome

strand

-1

last intron/exon boundary

755

theoretical NMD boundary in CDS

469

length of CDS

651

coding sequence (CDS) position

N/A

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

N/A

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGG ESTLGWPGLL FSWPAAAGGS
SEGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY
QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV
SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ*

mutated AA sequence

N/A

speed

0.30 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.12231374998111e-11 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000531105

Genbank transcript ID

N/A

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

intron

DNA changes

g.8638G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

2396

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
87	104	HELIX		might get lost (downstream of altered splice site)
109	116	HELIX		might get lost (downstream of altered splice site)
120	135	HELIX		might get lost (downstream of altered splice site)
139	152	HELIX		might get lost (downstream of altered splice site)
156	160	HELIX		might get lost (downstream of altered splice site)
164	171	HELIX		might get lost (downstream of altered splice site)
177	193	HELIX		might get lost (downstream of altered splice site)
202	208	HELIX		might get lost (downstream of altered splice site)
214	224	HELIX		might get lost (downstream of altered splice site)
234	243	HELIX		might get lost (downstream of altered splice site)
253	266	HELIX		might get lost (downstream of altered splice site)
272	285	HELIX		might get lost (downstream of altered splice site)
287	287	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
289	291	STRAND		might get lost (downstream of altered splice site)
294	294	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
297	297	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
300	302	HELIX		might get lost (downstream of altered splice site)
303	303	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
304	316	HELIX		might get lost (downstream of altered splice site)
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

195 / 195

chromosome

strand

-1

last intron/exon boundary

310

theoretical NMD boundary in CDS

length of CDS

189

coding sequence (CDS) position

N/A

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

N/A

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGF QKVPGVLSVQ SEKAPHGPAS
PG*

mutated AA sequence

N/A

speed

0.13 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.12231374998111e-11 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000488731

Genbank transcript ID

N/A

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

intron

DNA changes

g.8638G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

277

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
87	104	HELIX		might get lost (downstream of altered splice site)
109	116	HELIX		might get lost (downstream of altered splice site)
120	135	HELIX		might get lost (downstream of altered splice site)
139	152	HELIX		might get lost (downstream of altered splice site)
156	160	HELIX		might get lost (downstream of altered splice site)
164	171	HELIX		might get lost (downstream of altered splice site)
177	193	HELIX		might get lost (downstream of altered splice site)
202	208	HELIX		might get lost (downstream of altered splice site)
214	224	HELIX		might get lost (downstream of altered splice site)
234	243	HELIX		might get lost (downstream of altered splice site)
253	266	HELIX		might get lost (downstream of altered splice site)
272	285	HELIX		might get lost (downstream of altered splice site)
287	287	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
289	291	STRAND		might get lost (downstream of altered splice site)
294	294	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
297	297	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
300	302	HELIX		might get lost (downstream of altered splice site)
303	303	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
304	316	HELIX		might get lost (downstream of altered splice site)
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

27 / 27

chromosome

strand

-1

last intron/exon boundary

546

theoretical NMD boundary in CDS

469

length of CDS

651

coding sequence (CDS) position

N/A

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

N/A

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.65 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.12231374998111e-11 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM083726)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:45797505C>GN/A show variant in all transcripts IGV

HGNC symbol

MUTYH

Ensembl transcript ID

ENST00000528332

Genbank transcript ID

N/A

UniProt peptide

Q9UIF7

alteration type

single base exchange

alteration region

intron

DNA changes

g.8638G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3219489

database	homozygous (G/G)	heterozygous	allele carriers
1000G	280	1010	1290
ExAC	4266	20333	24599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.756	0.999
	-0.078	0.335
(flanking)	0.088	0.335

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
Acc increased	8633	wt: 0.63 / mu: 0.72	wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG	actg\|GACA
Donor marginally increased	8639	wt: 0.4745 / mu: 0.5174 (marginal change - not scored)	wt: GACAGTGCCACCTGT mu: GACACTGCCACCTGT	CAGT\|gcca
Donor marginally increased	8630	wt: 0.2529 / mu: 0.3326 (marginal change - not scored)	wt: CCAACACTGGACAGT mu: CCAACACTGGACACT	AACA\|ctgg
Acc gained	8646	0.48	mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC	acct\|GTGC

distance from splice site

277

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
87	104	HELIX		might get lost (downstream of altered splice site)
109	116	HELIX		might get lost (downstream of altered splice site)
120	135	HELIX		might get lost (downstream of altered splice site)
139	152	HELIX		might get lost (downstream of altered splice site)
156	160	HELIX		might get lost (downstream of altered splice site)
164	171	HELIX		might get lost (downstream of altered splice site)
177	193	HELIX		might get lost (downstream of altered splice site)
202	208	HELIX		might get lost (downstream of altered splice site)
214	224	HELIX		might get lost (downstream of altered splice site)
234	243	HELIX		might get lost (downstream of altered splice site)
253	266	HELIX		might get lost (downstream of altered splice site)
272	285	HELIX		might get lost (downstream of altered splice site)
287	287	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
289	291	STRAND		might get lost (downstream of altered splice site)
294	294	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
297	297	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
300	302	HELIX		might get lost (downstream of altered splice site)
303	303	METAL	Iron-sulfur (4Fe-4S) (By similarity).	might get lost (downstream of altered splice site)
304	316	HELIX		might get lost (downstream of altered splice site)
330	332	HELIX		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
364	495	DOMAIN	Nudix hydrolase.	might get lost (downstream of altered splice site)
366	377	STRAND		might get lost (downstream of altered splice site)
379	388	STRAND		might get lost (downstream of altered splice site)
403	405	STRAND		might get lost (downstream of altered splice site)
410	424	HELIX		might get lost (downstream of altered splice site)
447	456	STRAND		might get lost (downstream of altered splice site)
470	474	STRAND		might get lost (downstream of altered splice site)
475	480	HELIX		might get lost (downstream of altered splice site)
485	495	HELIX		might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

194 / 194

chromosome

strand

-1

last intron/exon boundary

755

theoretical NMD boundary in CDS

511

length of CDS

693

coding sequence (CDS) position

N/A

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

N/A

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

8638

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

45797505

original gDNA sequence snippet

CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC

altered gDNA sequence snippet

CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGGESTLGW
PGLLFSWPAA AGGSSEGLLA GLWEFPSVTW EPSEQLQRKA LLQELQRWAG PLPATHLRHL
GEVVHTFSHI KLTYQVYGLA LEGQTPVTTV PPGARWLTQE EFHTAAVSTA MKKVFRVYQG
QQPGTCMGSK RSQVSSPCSR KKPRMGQQVL DNFFRSHIST DAHSLNSAAQ *

mutated AA sequence

N/A

speed

0.23 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

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