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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000378896
Querying Taster for transcript #2: ENST00000265187
Querying Taster for transcript #3: ENST00000378883
Querying Taster for transcript #4: ENST00000378886
MT speed 0 s - this script 3.000261 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MCM8	polymorphism_automatic	0.00674580385950496	simple_aae		affected		Q63K	single base exchange	rs236110		show file
MCM8	polymorphism_automatic	0.00674580385950496	simple_aae		affected		Q63K	single base exchange	rs236110		show file
MCM8	polymorphism_automatic	0.00674580385950496	simple_aae		affected		Q63K	single base exchange	rs236110		show file
MCM8	polymorphism_automatic	0.00674580385950496	simple_aae		affected		Q63K	single base exchange	rs236110		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993254196140495 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:5933108C>AN/A show variant in all transcripts IGV

HGNC symbol

MCM8

Ensembl transcript ID

ENST00000378896

Genbank transcript ID

NM_032485

UniProt peptide

Q9UJA3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.187C>A
cDNA.564C>A
g.1811C>A

AA changes

Q63K Score: 53 explain score(s)

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

frameshift

known variant

Reference ID: rs236110

database	homozygous (A/A)	heterozygous	allele carriers
1000G	234	841	1075
ExAC	2407	16313	18720

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.955	0.966
	1.154	0.939
(flanking)	0.955	0.873

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	1801	wt: 0.31 / mu: 0.42	wt: CCACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCA mu: CCACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCA	aaca\|AAGA
Acc marginally increased	1802	wt: 0.8855 / mu: 0.9213 (marginal change - not scored)	wt: CACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCAG mu: CACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCAG	acaa\|AGAC
Donor increased	1807	wt: 0.60 / mu: 0.98	wt: AAGACCCCACAGTCA mu: AAGACCCCAAAGTCA	GACC\|ccac
Donor marginally increased	1812	wt: 0.9893 / mu: 0.9941 (marginal change - not scored)	wt: CCCACAGTCAATGCA mu: CCCAAAGTCAATGCA	CACA\|gtca
Donor marginally increased	1816	wt: 0.8816 / mu: 0.9139 (marginal change - not scored)	wt: CAGTCAATGCAGTCA mu: AAGTCAATGCAGTCA	GTCA\|atgc
Donor increased	1813	wt: 0.40 / mu: 0.56	wt: CCACAGTCAATGCAG mu: CCAAAGTCAATGCAG	ACAG\|tcaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000013233

Mmulatta

all identical

ENSMMUG00000013740

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000027353

Ggallus

not conserved

ENSGALG00000009195

Trubripes

not conserved

ENSTRUG00000007887

Drerio

all conserved

ENSDARG00000074326

Dmelanogaster

not conserved

FBgn0003227

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004500

protein features

start (aa)	end (aa)	feature	details
402	609	DOMAIN	MCM.	might get lost (downstream of altered splice site)
454	461	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
481	490	COMPBIAS	Thr-rich.	might get lost (downstream of altered splice site)
590	590	CONFLICT	V -> A (in Ref. 6; AAI01056).	might get lost (downstream of altered splice site)
788	788	CONFLICT	E -> G (in Ref. 6; AAI01055).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2523 / 2523

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

841 / 841

position of stopcodon in wt / mu cDNA

2900 / 2900

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

378 / 378

chromosome

strand

last intron/exon boundary

2808

theoretical NMD boundary in CDS

2380

length of CDS

2523

coding sequence (CDS) position

187

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

564

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

1811

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

5933108

original gDNA sequence snippet

TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG

altered gDNA sequence snippet

TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG

original cDNA sequence snippet

TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG

altered cDNA sequence snippet

TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG

wildtype AA sequence

MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPQSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK CMFLLYIEAN
SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE NLFKLIVNSL CPVIFGHELV
KAGLALALFG GSQKYADDKN RIPIRGDPHI LVVGDPGLGK SQMLQAACNV APRGVYVCGN
TTTTSGLTVT LSKDSSSGDF ALEAGALVLG DQGICGIDEF DKMGNQHQAL LEAMEQQSIS
LAKAGVVCSL PARTSIIAAA NPVGGHYNKA KTVSENLKMG SALLSRFDLV FILLDTPNEH
HDHLLSEHVI AIRAGKQRTI SSATVARMNS QDSNTSVLEV VSEKPLSERL KVVPGETIDP
IPHQLLRKYI GYARQYVYPR LSTEAARVLQ DFYLELRKQS QRLNSSPITT RQLESLIRLT
EARARLELRE EATKEDAEDI VEIMKYSMLG TYSDEFGNLD FERSQHGSGM SNRSTAKRFI
SALNNVAERT YNNIFQFHQL RQIAKELNIQ VADFENFIGS LNDQGYLLKK GPKVYQLQTM
*

mutated AA sequence

MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPKSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK CMFLLYIEAN
SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE NLFKLIVNSL CPVIFGHELV
KAGLALALFG GSQKYADDKN RIPIRGDPHI LVVGDPGLGK SQMLQAACNV APRGVYVCGN
TTTTSGLTVT LSKDSSSGDF ALEAGALVLG DQGICGIDEF DKMGNQHQAL LEAMEQQSIS
LAKAGVVCSL PARTSIIAAA NPVGGHYNKA KTVSENLKMG SALLSRFDLV FILLDTPNEH
HDHLLSEHVI AIRAGKQRTI SSATVARMNS QDSNTSVLEV VSEKPLSERL KVVPGETIDP
IPHQLLRKYI GYARQYVYPR LSTEAARVLQ DFYLELRKQS QRLNSSPITT RQLESLIRLT
EARARLELRE EATKEDAEDI VEIMKYSMLG TYSDEFGNLD FERSQHGSGM SNRSTAKRFI
SALNNVAERT YNNIFQFHQL RQIAKELNIQ VADFENFIGS LNDQGYLLKK GPKVYQLQTM
*

speed

0.34 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993254196140495 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:5933108C>AN/A show variant in all transcripts IGV

HGNC symbol

MCM8

Ensembl transcript ID

ENST00000265187

Genbank transcript ID

NM_182802

UniProt peptide

Q9UJA3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.187C>A
cDNA.339C>A
g.1811C>A

AA changes

Q63K Score: 53 explain score(s)

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

frameshift

known variant

Reference ID: rs236110

database	homozygous (A/A)	heterozygous	allele carriers
1000G	234	841	1075
ExAC	2407	16313	18720

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.955	0.966
	1.154	0.939
(flanking)	0.955	0.873

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	1801	wt: 0.31 / mu: 0.42	wt: CCACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCA mu: CCACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCA	aaca\|AAGA
Acc marginally increased	1802	wt: 0.8855 / mu: 0.9213 (marginal change - not scored)	wt: CACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCAG mu: CACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCAG	acaa\|AGAC
Donor increased	1807	wt: 0.60 / mu: 0.98	wt: AAGACCCCACAGTCA mu: AAGACCCCAAAGTCA	GACC\|ccac
Donor marginally increased	1812	wt: 0.9893 / mu: 0.9941 (marginal change - not scored)	wt: CCCACAGTCAATGCA mu: CCCAAAGTCAATGCA	CACA\|gtca
Donor marginally increased	1816	wt: 0.8816 / mu: 0.9139 (marginal change - not scored)	wt: CAGTCAATGCAGTCA mu: AAGTCAATGCAGTCA	GTCA\|atgc
Donor increased	1813	wt: 0.40 / mu: 0.56	wt: CCACAGTCAATGCAG mu: CCAAAGTCAATGCAG	ACAG\|tcaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000013233

Mmulatta

all identical

ENSMMUG00000013740

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000027353

Ggallus

not conserved

ENSGALG00000009195

Trubripes

not conserved

ENSTRUG00000007887

Drerio

all conserved

ENSDARG00000074326

Dmelanogaster

not conserved

FBgn0003227

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004500

protein features

start (aa)	end (aa)	feature	details
402	609	DOMAIN	MCM.	might get lost (downstream of altered splice site)
454	461	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
481	490	COMPBIAS	Thr-rich.	might get lost (downstream of altered splice site)
590	590	CONFLICT	V -> A (in Ref. 6; AAI01056).	might get lost (downstream of altered splice site)
788	788	CONFLICT	E -> G (in Ref. 6; AAI01055).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2475 / 2475

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

825 / 825

position of stopcodon in wt / mu cDNA

2627 / 2627

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

153 / 153

chromosome

strand

last intron/exon boundary

2535

theoretical NMD boundary in CDS

2332

length of CDS

2475

coding sequence (CDS) position

187

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

339

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

1811

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

5933108

original gDNA sequence snippet

TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG

altered gDNA sequence snippet

TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG

original cDNA sequence snippet

TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG

altered cDNA sequence snippet

TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG

wildtype AA sequence

MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPQSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEANSISNSK GQKTKSSEDG
CKHGMLMEFS LKDLYAIQEI QAEENLFKLI VNSLCPVIFG HELVKAGLAL ALFGGSQKYA
DDKNRIPIRG DPHILVVGDP GLGKSQMLQA ACNVAPRGVY VCGNTTTTSG LTVTLSKDSS
SGDFALEAGA LVLGDQGICG IDEFDKMGNQ HQALLEAMEQ QSISLAKAGV VCSLPARTSI
IAAANPVGGH YNKAKTVSEN LKMGSALLSR FDLVFILLDT PNEHHDHLLS EHVIAIRAGK
QRTISSATVA RMNSQDSNTS VLEVVSEKPL SERLKVVPGE TIDPIPHQLL RKYIGYARQY
VYPRLSTEAA RVLQDFYLEL RKQSQRLNSS PITTRQLESL IRLTEARARL ELREEATKED
AEDIVEIMKY SMLGTYSDEF GNLDFERSQH GSGMSNRSTA KRFISALNNV AERTYNNIFQ
FHQLRQIAKE LNIQVADFEN FIGSLNDQGY LLKKGPKVYQ LQTM*

mutated AA sequence

MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPKSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEANSISNSK GQKTKSSEDG
CKHGMLMEFS LKDLYAIQEI QAEENLFKLI VNSLCPVIFG HELVKAGLAL ALFGGSQKYA
DDKNRIPIRG DPHILVVGDP GLGKSQMLQA ACNVAPRGVY VCGNTTTTSG LTVTLSKDSS
SGDFALEAGA LVLGDQGICG IDEFDKMGNQ HQALLEAMEQ QSISLAKAGV VCSLPARTSI
IAAANPVGGH YNKAKTVSEN LKMGSALLSR FDLVFILLDT PNEHHDHLLS EHVIAIRAGK
QRTISSATVA RMNSQDSNTS VLEVVSEKPL SERLKVVPGE TIDPIPHQLL RKYIGYARQY
VYPRLSTEAA RVLQDFYLEL RKQSQRLNSS PITTRQLESL IRLTEARARL ELREEATKED
AEDIVEIMKY SMLGTYSDEF GNLDFERSQH GSGMSNRSTA KRFISALNNV AERTYNNIFQ
FHQLRQIAKE LNIQVADFEN FIGSLNDQGY LLKKGPKVYQ LQTM*

speed

0.32 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993254196140495 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:5933108C>AN/A show variant in all transcripts IGV

HGNC symbol

MCM8

Ensembl transcript ID

ENST00000378883

Genbank transcript ID

N/A

UniProt peptide

Q9UJA3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.187C>A
cDNA.564C>A
g.1811C>A

AA changes

Q63K Score: 53 explain score(s)

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

frameshift

known variant

Reference ID: rs236110

database	homozygous (A/A)	heterozygous	allele carriers
1000G	234	841	1075
ExAC	2407	16313	18720

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.955	0.966
	1.154	0.939
(flanking)	0.955	0.873

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	1801	wt: 0.31 / mu: 0.42	wt: CCACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCA mu: CCACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCA	aaca\|AAGA
Acc marginally increased	1802	wt: 0.8855 / mu: 0.9213 (marginal change - not scored)	wt: CACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCAG mu: CACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCAG	acaa\|AGAC
Donor increased	1807	wt: 0.60 / mu: 0.98	wt: AAGACCCCACAGTCA mu: AAGACCCCAAAGTCA	GACC\|ccac
Donor marginally increased	1812	wt: 0.9893 / mu: 0.9941 (marginal change - not scored)	wt: CCCACAGTCAATGCA mu: CCCAAAGTCAATGCA	CACA\|gtca
Donor marginally increased	1816	wt: 0.8816 / mu: 0.9139 (marginal change - not scored)	wt: CAGTCAATGCAGTCA mu: AAGTCAATGCAGTCA	GTCA\|atgc
Donor increased	1813	wt: 0.40 / mu: 0.56	wt: CCACAGTCAATGCAG mu: CCAAAGTCAATGCAG	ACAG\|tcaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000013233

Mmulatta

all identical

ENSMMUG00000013740

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000027353

Ggallus

not conserved

ENSGALG00000009195

Trubripes

not conserved

ENSTRUG00000007887

Drerio

all conserved

ENSDARG00000074326

Dmelanogaster

not conserved

FBgn0003227

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004500

protein features

start (aa)	end (aa)	feature	details
402	609	DOMAIN	MCM.	might get lost (downstream of altered splice site)
454	461	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
481	490	COMPBIAS	Thr-rich.	might get lost (downstream of altered splice site)
590	590	CONFLICT	V -> A (in Ref. 6; AAI01056).	might get lost (downstream of altered splice site)
788	788	CONFLICT	E -> G (in Ref. 6; AAI01055).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2382 / 2382

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

794 / 794

position of stopcodon in wt / mu cDNA

2759 / 2759

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

378 / 378

chromosome

strand

last intron/exon boundary

2667

theoretical NMD boundary in CDS

2239

length of CDS

2382

coding sequence (CDS) position

187

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

564

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

1811

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

5933108

original gDNA sequence snippet

TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG

altered gDNA sequence snippet

TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG

original cDNA sequence snippet

TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG

altered cDNA sequence snippet

TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG

wildtype AA sequence

MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPQSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK CMFLLYIEAN
SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE NLFKLIVNSL CPVIFGHEAA
CNVAPRGVYV CGNTTTTSGL TVTLSKDSSS GDFALEAGAL VLGDQGICGI DEFDKMGNQH
QALLEAMEQQ SISLAKAGVV CSLPARTSII AAANPVGGHY NKAKTVSENL KMGSALLSRF
DLVFILLDTP NEHHDHLLSE HVIAIRAGKQ RTISSATVAR MNSQDSNTSV LEVVSEKPLS
ERLKVVPGET IDPIPHQLLR KYIGYARQYV YPRLSTEAAR VLQDFYLELR KQSQRLNSSP
ITTRQLESLI RLTEARARLE LREEATKEDA EDIVEIMKYS MLGTYSDEFG NLDFERSQHG
SGMSNRSTAK RFISALNNVA ERTYNNIFQF HQLRQIAKEL NIQVADFENF IGSLNDQGYL
LKKGPKVYQL QTM*

mutated AA sequence

MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPKSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK CMFLLYIEAN
SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE NLFKLIVNSL CPVIFGHEAA
CNVAPRGVYV CGNTTTTSGL TVTLSKDSSS GDFALEAGAL VLGDQGICGI DEFDKMGNQH
QALLEAMEQQ SISLAKAGVV CSLPARTSII AAANPVGGHY NKAKTVSENL KMGSALLSRF
DLVFILLDTP NEHHDHLLSE HVIAIRAGKQ RTISSATVAR MNSQDSNTSV LEVVSEKPLS
ERLKVVPGET IDPIPHQLLR KYIGYARQYV YPRLSTEAAR VLQDFYLELR KQSQRLNSSP
ITTRQLESLI RLTEARARLE LREEATKEDA EDIVEIMKYS MLGTYSDEFG NLDFERSQHG
SGMSNRSTAK RFISALNNVA ERTYNNIFQF HQLRQIAKEL NIQVADFENF IGSLNDQGYL
LKKGPKVYQL QTM*

speed

0.30 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993254196140495 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:5933108C>AN/A show variant in all transcripts IGV

HGNC symbol

MCM8

Ensembl transcript ID

ENST00000378886

Genbank transcript ID

N/A

UniProt peptide

Q9UJA3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.187C>A
cDNA.365C>A
g.1811C>A

AA changes

Q63K Score: 53 explain score(s)

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

frameshift

known variant

Reference ID: rs236110

database	homozygous (A/A)	heterozygous	allele carriers
1000G	234	841	1075
ExAC	2407	16313	18720

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.955	0.966
	1.154	0.939
(flanking)	0.955	0.873

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	1801	wt: 0.31 / mu: 0.42	wt: CCACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCA mu: CCACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCA	aaca\|AAGA
Acc marginally increased	1802	wt: 0.8855 / mu: 0.9213 (marginal change - not scored)	wt: CACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCAG mu: CACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCAG	acaa\|AGAC
Donor increased	1807	wt: 0.60 / mu: 0.98	wt: AAGACCCCACAGTCA mu: AAGACCCCAAAGTCA	GACC\|ccac
Donor marginally increased	1812	wt: 0.9893 / mu: 0.9941 (marginal change - not scored)	wt: CCCACAGTCAATGCA mu: CCCAAAGTCAATGCA	CACA\|gtca
Donor marginally increased	1816	wt: 0.8816 / mu: 0.9139 (marginal change - not scored)	wt: CAGTCAATGCAGTCA mu: AAGTCAATGCAGTCA	GTCA\|atgc
Donor increased	1813	wt: 0.40 / mu: 0.56	wt: CCACAGTCAATGCAG mu: CCAAAGTCAATGCAG	ACAG\|tcaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000013233

Mmulatta

all identical

ENSMMUG00000013740

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000027353

Ggallus

not conserved

ENSGALG00000009195

Trubripes

not conserved

ENSTRUG00000007887

Drerio

all conserved

ENSDARG00000074326

Dmelanogaster

not conserved

FBgn0003227

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004500

protein features

start (aa)	end (aa)	feature	details
402	609	DOMAIN	MCM.	might get lost (downstream of altered splice site)
454	461	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
481	490	COMPBIAS	Thr-rich.	might get lost (downstream of altered splice site)
590	590	CONFLICT	V -> A (in Ref. 6; AAI01056).	might get lost (downstream of altered splice site)
788	788	CONFLICT	E -> G (in Ref. 6; AAI01055).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2643 / 2643

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

881 / 881

position of stopcodon in wt / mu cDNA

2821 / 2821

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

179 / 179

chromosome

strand

last intron/exon boundary

2729

theoretical NMD boundary in CDS

2500

length of CDS

2643

coding sequence (CDS) position

187

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

365

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

1811

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

5933108

original gDNA sequence snippet

TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG

altered gDNA sequence snippet

TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG

original cDNA sequence snippet

TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG

altered cDNA sequence snippet

TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG

wildtype AA sequence

MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPQSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK CMFLLYIEAN
SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE NLFKLIVKWS LALSPRLEYS
GAISAHCNLH LPSSNSSPTS ACRVAGTTGM RHQTQLLLLV KAGLALALFG GSQKYADDKN
RIPIRGDPHI LVVGDPGLGK SQMLQAACNV APRGVYVCGN TTTTSGLTVT LSKDSSSGDF
ALEAGALVLG DQGICGIDEF DKMGNQHQAL LEAMEQQSIS LAKAGVVCSL PARTSIIAAA
NPVGGHYNKA KTVSENLKMG SALLSRFDLV FILLDTPNEH HDHLLSEHVI AIRAGKQRTI
SSATVARMNS QDSNTSVLEV VSEKPLSERL KVVPGETIDP IPHQLLRKYI GYARQYVYPR
LSTEAARVLQ DFYLELRKQS QRLNSSPITT RQLESLIRLT EARARLELRE EATKEDAEDI
VEIMKYSMLG TYSDEFGNLD FERSQHGSGM SNRSTAKRFI SALNNVAERT YNNIFQFHQL
RQIAKELNIQ VADFENFIGS LNDQGYLLKK GPKVYQLQTM *

mutated AA sequence

MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPKSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK CMFLLYIEAN
SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE NLFKLIVKWS LALSPRLEYS
GAISAHCNLH LPSSNSSPTS ACRVAGTTGM RHQTQLLLLV KAGLALALFG GSQKYADDKN
RIPIRGDPHI LVVGDPGLGK SQMLQAACNV APRGVYVCGN TTTTSGLTVT LSKDSSSGDF
ALEAGALVLG DQGICGIDEF DKMGNQHQAL LEAMEQQSIS LAKAGVVCSL PARTSIIAAA
NPVGGHYNKA KTVSENLKMG SALLSRFDLV FILLDTPNEH HDHLLSEHVI AIRAGKQRTI
SSATVARMNS QDSNTSVLEV VSEKPLSERL KVVPGETIDP IPHQLLRKYI GYARQYVYPR
LSTEAARVLQ DFYLELRKQS QRLNSSPITT RQLESLIRLT EARARLELRE EATKEDAEDI
VEIMKYSMLG TYSDEFGNLD FERSQHGSGM SNRSTAKRFI SALNNVAERT YNNIFQFHQL
RQIAKELNIQ VADFENFIGS LNDQGYLLKK GPKVYQLQTM *

speed

0.28 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

Problems