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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000274897
Querying Taster for transcript #2: ENST00000514921
Querying Taster for transcript #3: ENST00000370877
Querying Taster for transcript #4: ENST00000509997
Querying Taster for transcript #5: ENST00000370876
Querying Taster for transcript #6: ENST00000502396
Querying Taster for transcript #7: ENST00000358276
MT speed 0 s - this script 4.307851 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MLIP	polymorphism_automatic	6.25000051712732e-12	simple_aae		affected		E444A	single base exchange	rs2754779		show file
MLIP	polymorphism_automatic	6.25000051712732e-12	simple_aae		affected		E455A	single base exchange	rs2754779		show file
MLIP	polymorphism_automatic	2.45846110136227e-08	without_aae		affected			single base exchange	rs2754779		show file
MLIP	polymorphism_automatic	2.45846110136227e-08	without_aae		affected			single base exchange	rs2754779		show file
MLIP	polymorphism_automatic	2.45846110136227e-08	without_aae		affected			single base exchange	rs2754779		show file
MLIP	polymorphism_automatic	2.45846110136227e-08	without_aae		affected			single base exchange	rs2754779		show file
MLIP	polymorphism_automatic	2.45846110136227e-08	without_aae		affected			single base exchange	rs2754779		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999375 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:54002231A>CN/A show variant in all transcripts IGV

HGNC symbol

MLIP

Ensembl transcript ID

ENST00000514921

Genbank transcript ID

N/A

UniProt peptide

Q5VWP3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1331A>C
cDNA.1444A>C
g.207452A>C

AA changes

E444A Score: 107 explain score(s)

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

444

frameshift

known variant

Reference ID: rs2754779

database	homozygous (C/C)	heterozygous	allele carriers
1000G	324	879	1203
ExAC	287	1947	2234

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.159	0.028
	-0.273	0.002
(flanking)	-0.883	0.002

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	207445	wt: 0.9134 / mu: 0.9168 (marginal change - not scored)	wt: TTGACCAAAAAGAAA mu: TTGACCAAAAAGCAA	GACC\|aaaa
Donor increased	207443	wt: 0.85 / mu: 0.94	wt: ACTTGACCAAAAAGA mu: ACTTGACCAAAAAGC	TTGA\|ccaa

distance from splice site

719

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

444

mutated

not conserved

444

Ptroglodytes

no alignment

ENSPTRG00000018294

n/a

Mmulatta

no alignment

ENSMMUG00000012781

n/a

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000032355

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000089920

607

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2748 / 2748

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

916 / 916

position of stopcodon in wt / mu cDNA

2861 / 2861

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

114 / 114

chromosome

strand

last intron/exon boundary

2799

theoretical NMD boundary in CDS

2635

length of CDS

2748

coding sequence (CDS) position

1331

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

1444

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

207452

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

54002231

original gDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered gDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

original cDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered cDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

wildtype AA sequence

MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQLTSSPT TSEQLACKPP AFSFVSPTNP NTPPDPVNLE
GASVLEEFHT RRLDVGGAVV EESATYFQTT AHSTPFSASK GTSSTLLFPH STQLSGSNLP
SSTAADPKPG LTSEVLKKTT LTSHVLSHGE SPRTSSSPPS SSASLKSNSA SYIPVRIVTH
SLSPSPKPFT SSFHGSSSTI CSQMSSSGNL SKSGVKSPVP SRLALLTAIL KSNPSHQRPF
SPASCPTFSL NSPASSTLTL DQKEKQTPPT PKKSLSSCSL RAGSPDQGEL QVSELTQQSF
HLPVFTKSTP LSQAPSLSPT KQASSSLASM NVERTPSPTL KSNTMLSLLQ TSTSSSVGLP
PVPPSSSLSS LKSKQDGDLR GPENPRNIHT YPSTLASSAL SSLSPPINQR ATFSSSEKCF
HPSPALSSLI NRSKRASSQL SGQELNPSAL PSLPVSSADF ASLPNLRSSS LPHANLPTLV
PQLSPSALHP HCGSGTLPSR LGKSESTTPN HRSPVSTPSL PISLTRTEEL ISPCALSMST
GPENKKSKQY KTKSSYKAFA AIPTNTLLLE QKALDEPAKT ESVSKDNTLE PPVELYFPAQ
LRQQTEELCA TIDKVLQDSL SMHSSDSPSR SPKTLLGSDT VKTPTTLPRA AGRETKYANL
SSPSSTVSES QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQAAHSV
DSYCNGSDTS GPWLL*

mutated AA sequence

MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQLTSSPT TSEQLACKPP AFSFVSPTNP NTPPDPVNLE
GASVLEEFHT RRLDVGGAVV EESATYFQTT AHSTPFSASK GTSSTLLFPH STQLSGSNLP
SSTAADPKPG LTSEVLKKTT LTSHVLSHGE SPRTSSSPPS SSASLKSNSA SYIPVRIVTH
SLSPSPKPFT SSFHGSSSTI CSQMSSSGNL SKSGVKSPVP SRLALLTAIL KSNPSHQRPF
SPASCPTFSL NSPASSTLTL DQKAKQTPPT PKKSLSSCSL RAGSPDQGEL QVSELTQQSF
HLPVFTKSTP LSQAPSLSPT KQASSSLASM NVERTPSPTL KSNTMLSLLQ TSTSSSVGLP
PVPPSSSLSS LKSKQDGDLR GPENPRNIHT YPSTLASSAL SSLSPPINQR ATFSSSEKCF
HPSPALSSLI NRSKRASSQL SGQELNPSAL PSLPVSSADF ASLPNLRSSS LPHANLPTLV
PQLSPSALHP HCGSGTLPSR LGKSESTTPN HRSPVSTPSL PISLTRTEEL ISPCALSMST
GPENKKSKQY KTKSSYKAFA AIPTNTLLLE QKALDEPAKT ESVSKDNTLE PPVELYFPAQ
LRQQTEELCA TIDKVLQDSL SMHSSDSPSR SPKTLLGSDT VKTPTTLPRA AGRETKYANL
SSPSSTVSES QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQAAHSV
DSYCNGSDTS GPWLL*

speed

0.11 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: 0.99999999999375 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:54002231A>CN/A show variant in all transcripts IGV

HGNC symbol

MLIP

Ensembl transcript ID

ENST00000502396

Genbank transcript ID

N/A

UniProt peptide

Q5VWP3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1364A>C
cDNA.1396A>C
g.207452A>C

AA changes

E455A Score: 107 explain score(s)

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

455

frameshift

known variant

Reference ID: rs2754779

database	homozygous (C/C)	heterozygous	allele carriers
1000G	324	879	1203
ExAC	287	1947	2234

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.159	0.028
	-0.273	0.002
(flanking)	-0.883	0.002

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	207445	wt: 0.9134 / mu: 0.9168 (marginal change - not scored)	wt: TTGACCAAAAAGAAA mu: TTGACCAAAAAGCAA	GACC\|aaaa
Donor increased	207443	wt: 0.85 / mu: 0.94	wt: ACTTGACCAAAAAGA mu: ACTTGACCAAAAAGC	TTGA\|ccaa

distance from splice site

719

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

455

mutated

not conserved

455

Ptroglodytes

no alignment

ENSPTRG00000018294

n/a

Mmulatta

no alignment

ENSMMUG00000012781

n/a

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000032355

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000089920

607

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2982 / 2982

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

994 / 994

position of stopcodon in wt / mu cDNA

3014 / 3014

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

33 / 33

chromosome

strand

last intron/exon boundary

3009

theoretical NMD boundary in CDS

2926

length of CDS

2982

coding sequence (CDS) position

1364

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

1396

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

207452

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

54002231

original gDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered gDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

original cDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered cDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

wildtype AA sequence

MLSEQGLLSD CGNNYFQMTS CILSGSIQTT PQVSAGGSEA KPLIFTFVPT VRRLPTHTQL
ADTSKFLVKI PEESSDKSPE TVNRSKSNDY LTLNAGSQQE RDQAKLTCPS EVSGTILQER
EFEANKLQGM QQSDLFKAEY VLIVDSEGED EAASRKVEQG PPGGIGTAAV RPKSLAISSS
LVSDVVRPKT QGTDLKTSSH PEMLHGMAPQ QKHGQLTSSP TTSEQLACKP PAFSFVSPTN
PNTPPDPVNL EGASVLEEFH TRRLDVGGAV VEESATYFQT TAHSTPFSAS KGTSSTLLFP
HSTQLSGSNL PSSTAADPKP GLTSEVLKKT TLTSHVLSHG ESPRTSSSPP SSSASLKSNS
ASYIPVRIVT HSLSPSPKPF TSSFHGSSST ICSQMSSSGN LSKSGVKSPV PSRLALLTAI
LKSNPSHQRP FSPASCPTFS LNSPASSTLT LDQKEKQTPP TPKKSLSSCS LRAGSPDQGE
LQVSELTQQS FHLPVFTKST PLSQAPSLSP TKQASSSLAS MNVERTPSPT LKSNTMLSLL
QTSTSSSVGL PPVPPSSSLS SLKSKQDGDL RGPENPRNIH TYPSTLASSA LSSLSPPINQ
RATFSSSEKC FHPSPALSSL INRSKRASSQ LSGQELNPSA LPSLPVSSAD FASLPNLRSS
SLPHANLPTL VPQLSPSALH PHCGSGTLPS RLGKSESTTP NHRSPVSTPS LPISLTRTEE
LISPCALSMS TGPENKKSKQ YKTKSSYKAF AAIPTNTLLL EQKALDEPAK TESVSKDNTL
EPPVELYFPA QLRQQTEELC ATIDKVLQDS LSMHSSDSPS RSPKTLLGSD TVKTPTTLPR
AAGRETKYAN LSSPSSTVSE SQLTKPGVIR PVPVKSRILL KKEEEVYEPN PFSKYLEDNS
DLFSEQDVTV PPKPVSLHPL YQTKLYPPAK SLLHPQTLSH ADCLAPGPFS HLSFSLSDEQ
ENSHTLLSHN ACNKLSHPMV AIPEHEALDS KEQ*

mutated AA sequence

MLSEQGLLSD CGNNYFQMTS CILSGSIQTT PQVSAGGSEA KPLIFTFVPT VRRLPTHTQL
ADTSKFLVKI PEESSDKSPE TVNRSKSNDY LTLNAGSQQE RDQAKLTCPS EVSGTILQER
EFEANKLQGM QQSDLFKAEY VLIVDSEGED EAASRKVEQG PPGGIGTAAV RPKSLAISSS
LVSDVVRPKT QGTDLKTSSH PEMLHGMAPQ QKHGQLTSSP TTSEQLACKP PAFSFVSPTN
PNTPPDPVNL EGASVLEEFH TRRLDVGGAV VEESATYFQT TAHSTPFSAS KGTSSTLLFP
HSTQLSGSNL PSSTAADPKP GLTSEVLKKT TLTSHVLSHG ESPRTSSSPP SSSASLKSNS
ASYIPVRIVT HSLSPSPKPF TSSFHGSSST ICSQMSSSGN LSKSGVKSPV PSRLALLTAI
LKSNPSHQRP FSPASCPTFS LNSPASSTLT LDQKAKQTPP TPKKSLSSCS LRAGSPDQGE
LQVSELTQQS FHLPVFTKST PLSQAPSLSP TKQASSSLAS MNVERTPSPT LKSNTMLSLL
QTSTSSSVGL PPVPPSSSLS SLKSKQDGDL RGPENPRNIH TYPSTLASSA LSSLSPPINQ
RATFSSSEKC FHPSPALSSL INRSKRASSQ LSGQELNPSA LPSLPVSSAD FASLPNLRSS
SLPHANLPTL VPQLSPSALH PHCGSGTLPS RLGKSESTTP NHRSPVSTPS LPISLTRTEE
LISPCALSMS TGPENKKSKQ YKTKSSYKAF AAIPTNTLLL EQKALDEPAK TESVSKDNTL
EPPVELYFPA QLRQQTEELC ATIDKVLQDS LSMHSSDSPS RSPKTLLGSD TVKTPTTLPR
AAGRETKYAN LSSPSSTVSE SQLTKPGVIR PVPVKSRILL KKEEEVYEPN PFSKYLEDNS
DLFSEQDVTV PPKPVSLHPL YQTKLYPPAK SLLHPQTLSH ADCLAPGPFS HLSFSLSDEQ
ENSHTLLSHN ACNKLSHPMV AIPEHEALDS KEQ*

speed

0.10 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999975415389 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr6:54002231A>CN/A show variant in all transcripts IGV

HGNC symbol

MLIP

Ensembl transcript ID

ENST00000274897

Genbank transcript ID

NM_138569

UniProt peptide

Q5VWP3

alteration type

single base exchange

alteration region

intron

DNA changes

g.207452A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2754779

database	homozygous (C/C)	heterozygous	allele carriers
1000G	324	879	1203
ExAC	287	1947	2234

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.159	0.028
	-0.273	0.002
(flanking)	-0.883	0.002

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	207445	wt: 0.9134 / mu: 0.9168 (marginal change - not scored)	wt: TTGACCAAAAAGAAA mu: TTGACCAAAAAGCAA	GACC\|aaaa
Donor increased	207443	wt: 0.85 / mu: 0.94	wt: ACTTGACCAAAAAGA mu: ACTTGACCAAAAAGC	TTGA\|ccaa

distance from splice site

11623

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
355	355	CONFLICT	N -> T (in Ref. 3; AAH09010).	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

114 / 114

chromosome

strand

last intron/exon boundary

1485

theoretical NMD boundary in CDS

1321

length of CDS

1377

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)

207452

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

54002231

original gDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered gDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQQYKTKS SYKAFAAIPT NTLLLEQKAL DEPAKTESVS
KDNTLEPPVE LYFPAQLRQQ TEELCATIDK VLQDSLSMHS SDSPSRSPKT LLGSDTVKTP
TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK SRILLKKEEE VYEPNPFSKY
LEDNSDLFSE QDVTVPPKPV SLHPLYQTKL YPPAKSLLHP QTLSHADCLA PGPFSHLSFS
LSDEQENSHT LLSHNACNKL SHPMVAIPEH EALDSKEQ*

mutated AA sequence

N/A

speed

0.08 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999975415389 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr6:54002231A>CN/A show variant in all transcripts IGV

HGNC symbol

MLIP

Ensembl transcript ID

ENST00000370877

Genbank transcript ID

N/A

UniProt peptide

Q5VWP3

alteration type

single base exchange

alteration region

intron

DNA changes

g.207452A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2754779

database	homozygous (C/C)	heterozygous	allele carriers
1000G	324	879	1203
ExAC	287	1947	2234

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.159	0.028
	-0.273	0.002
(flanking)	-0.883	0.002

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	207445	wt: 0.9134 / mu: 0.9168 (marginal change - not scored)	wt: TTGACCAAAAAGAAA mu: TTGACCAAAAAGCAA	GACC\|aaaa
Donor increased	207443	wt: 0.85 / mu: 0.94	wt: ACTTGACCAAAAAGA mu: ACTTGACCAAAAAGC	TTGA\|ccaa

distance from splice site

12568

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
355	355	CONFLICT	N -> T (in Ref. 3; AAH09010).	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

103 / 103

chromosome

strand

last intron/exon boundary

904

theoretical NMD boundary in CDS

751

length of CDS

807

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)

207452

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

54002231

original gDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered gDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MELEKREKRS LLNKNLEEKL TSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE
ANKLQGMQQS DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS
DVVRPKTQGT DLKTSSHPEM LHGMAPQQKH GQALDEPAKT ESVSKDNTLE PPVEHSSDSP
SRSPKTLLGS DTVKTPTTLP RAAGRETKYA NLSSPSSTVS ESQLTKPGVI RPVPVKSRIL
LKKEEEVYEP NPFSKYLEDN SDLFSEQQ*

mutated AA sequence

N/A

speed

0.69 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999975415389 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr6:54002231A>CN/A show variant in all transcripts IGV

HGNC symbol

MLIP

Ensembl transcript ID

ENST00000370876

Genbank transcript ID

N/A

UniProt peptide

Q5VWP3

alteration type

single base exchange

alteration region

intron

DNA changes

g.207452A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2754779

database	homozygous (C/C)	heterozygous	allele carriers
1000G	324	879	1203
ExAC	287	1947	2234

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.159	0.028
	-0.273	0.002
(flanking)	-0.883	0.002

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	207445	wt: 0.9134 / mu: 0.9168 (marginal change - not scored)	wt: TTGACCAAAAAGAAA mu: TTGACCAAAAAGCAA	GACC\|aaaa
Donor increased	207443	wt: 0.85 / mu: 0.94	wt: ACTTGACCAAAAAGA mu: ACTTGACCAAAAAGC	TTGA\|ccaa

distance from splice site

12568

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
355	355	CONFLICT	N -> T (in Ref. 3; AAH09010).	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

47 / 47

chromosome

strand

last intron/exon boundary

746

theoretical NMD boundary in CDS

649

length of CDS

705

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)

207452

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

54002231

original gDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered gDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MCSWYLGFEC SSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE ANKLQGMQQS
DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS DVVRPKTQGT
DLKTSSHPEM LHGMAPQQKH GQTPTTLPRA AGRETKYANL SSPSSTVSES QLTKPGVIRP
VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQLSHPM VAIPEHEALD SKEQ*

mutated AA sequence

N/A

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999975415389 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr6:54002231A>CN/A show variant in all transcripts IGV

HGNC symbol

MLIP

Ensembl transcript ID

ENST00000509997

Genbank transcript ID

N/A

UniProt peptide

Q5VWP3

alteration type

single base exchange

alteration region

intron

DNA changes

g.207452A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2754779

database	homozygous (C/C)	heterozygous	allele carriers
1000G	324	879	1203
ExAC	287	1947	2234

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.159	0.028
	-0.273	0.002
(flanking)	-0.883	0.002

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	207445	wt: 0.9134 / mu: 0.9168 (marginal change - not scored)	wt: TTGACCAAAAAGAAA mu: TTGACCAAAAAGCAA	GACC\|aaaa
Donor increased	207443	wt: 0.85 / mu: 0.94	wt: ACTTGACCAAAAAGA mu: ACTTGACCAAAAAGC	TTGA\|ccaa

distance from splice site

12568

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
355	355	CONFLICT	N -> T (in Ref. 3; AAH09010).	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

30 / 30

chromosome

strand

last intron/exon boundary

705

theoretical NMD boundary in CDS

625

length of CDS

681

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)

207452

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

54002231

original gDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered gDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MELEKREKRS LLNKNLEEKL TSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE
ANKLQGMQQS DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS
DVVRPKTQGT DLKTSSHPEM LHGMAPQQKH GQTPTTLPRA AGRETKYANL SSPSSTVSES
QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQQ*

mutated AA sequence

N/A

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999975415389 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr6:54002231A>CN/A show variant in all transcripts IGV

HGNC symbol

MLIP

Ensembl transcript ID

ENST00000358276

Genbank transcript ID

N/A

UniProt peptide

Q5VWP3

alteration type

single base exchange

alteration region

intron

DNA changes

g.207452A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2754779

database	homozygous (C/C)	heterozygous	allele carriers
1000G	324	879	1203
ExAC	287	1947	2234

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.159	0.028
	-0.273	0.002
(flanking)	-0.883	0.002

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	207445	wt: 0.9134 / mu: 0.9168 (marginal change - not scored)	wt: TTGACCAAAAAGAAA mu: TTGACCAAAAAGCAA	GACC\|aaaa
Donor increased	207443	wt: 0.85 / mu: 0.94	wt: ACTTGACCAAAAAGA mu: ACTTGACCAAAAAGC	TTGA\|ccaa

distance from splice site

12568

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
355	355	CONFLICT	N -> T (in Ref. 3; AAH09010).	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

84 / 84

chromosome

strand

last intron/exon boundary

951

theoretical NMD boundary in CDS

817

length of CDS

873

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)

207452

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

54002231

original gDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered gDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTSCILSGSI QTTPQVSAGG SEAKPLIFTF VPTVRRLPTH TQLADTSKFL VKIPEESSDK
SPETVNRSKS NDYLTLNAGS QQERDQAKLT CPSEVSGTIL QEREFEANKL QGMQQSDLFK
AEYVLIVDSE GEDEAASRKV EQGPPGGIGT AAVRPKSLAI SSSLVSDVVR PKTQGTDLKT
SSHPEMLHGM APQQKHGQTP TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK
SRILLKKEEE VYEPNPFSKY LEDNSDLFSE QLSHPMVAIP EHEALDSKEQ *

mutated AA sequence

N/A

speed

0.67 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

Problems