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: ENST00000258385
Querying Taster for transcript #2: ENST00000543200
Querying Taster for transcript #3: ENST00000536614
Querying Taster for transcript #4: ENST00000457943
MT speed 0 s - this script 3.645644 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CHRND	disease_causing_automatic	0.999999999999328	simple_aae		affected	0	L63P	single base exchange	rs121909508		show file
CHRND	disease_causing_automatic	0.999999999999328	simple_aae		affected	0	L63P	single base exchange	rs121909508		show file
CHRND	disease_causing_automatic	0.999999999999328	simple_aae		affected	0	L63P	single base exchange	rs121909508		show file
CHRND	disease_causing_automatic	1	without_aae		affected	0		single base exchange	rs121909508		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999328 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081556)
known disease mutation: rs18371 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233391374T>CN/A show variant in all transcripts IGV

HGNC symbol

CHRND

Ensembl transcript ID

ENST00000258385

Genbank transcript ID

NM_000751

UniProt peptide

Q07001

alteration type

single base exchange

alteration region

CDS

DNA changes

c.188T>C
cDNA.220T>C
g.672T>C

AA changes

L63P Score: 98 explain score(s)

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

frameshift

known variant

Reference ID: rs121909508
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs18371 (pathogenic for Congenital myasthenic syndrome 3B) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM081556)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081556)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081556)

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.101	1
	4.743	1
(flanking)	1.009	1

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 marginally increased	672	wt: 0.2346 / mu: 0.2380 (marginal change - not scored)	wt: GGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAGGCC mu: GGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAGGCC	acct\|CATC
Acc marginally decreased	681	wt: 0.9492 / mu: 0.9213 (marginal change - not scored)	wt: ACTCTCCAACCTCATCTCCCTGGTGAGAGGCCCTCCGGTGC mu: ACTCTCCAACCCCATCTCCCTGGTGAGAGGCCCTCCGGTGC	ccct\|GGTG
Acc increased	669	wt: 0.33 / mu: 0.41	wt: CCTGGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAG mu: CCTGGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAG	ccaa\|CCTC
Acc marginally increased	679	wt: 0.3647 / mu: 0.3686 (marginal change - not scored)	wt: ACACTCTCCAACCTCATCTCCCTGGTGAGAGGCCCTCCGGT mu: ACACTCTCCAACCCCATCTCCCTGGTGAGAGGCCCTCCGGT	ctcc\|CTGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000013040

Mmulatta

all identical

ENSMMUG00000022147

Fcatus

all identical

ENSFCAG00000005679

Mmusculus

all identical

ENSMUSG00000026251

Ggallus

all identical

ENSGALG00000007899

Trubripes

no homologue

Drerio

all identical

ENSDARG00000019342

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000027884

protein features

start (aa)	end (aa)	feature	details
22	245	TOPO_DOM	Extracellular (Potential).	lost
97	97	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
151	151	DISULFID	By similarity.	might get lost (downstream of altered splice site)
164	164	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
165	165	DISULFID	By similarity.	might get lost (downstream of altered splice site)
246	270	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
278	299	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
312	333	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
334	471	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
390	390	MOD_RES	Phosphotyrosine; by Tyr-kinases (By similarity).	might get lost (downstream of altered splice site)
472	490	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1554 / 1554

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

518 / 518

position of stopcodon in wt / mu cDNA

1586 / 1586

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

1404

theoretical NMD boundary in CDS

1321

length of CDS

1554

coding sequence (CDS) position

188

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

220

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

672

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

233391374

original gDNA sequence snippet

GGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAGGCC

altered gDNA sequence snippet

GGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAGGCC

original cDNA sequence snippet

GGCCCTCACACTCTCCAACCTCATCTCCCTGAAAGAAGTTG

altered cDNA sequence snippet

GGCCCTCACACTCTCCAACCCCATCTCCCTGAAAGAAGTTG

wildtype AA sequence

MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND
GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFS SLKYTAKEIT
LSLKQDAKEN RTYPVEWIII DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL
IIRRKPLFYI INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP
ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL FLETLPELLH
MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM FEKQSERHGL ARRLTTARRP
PASSEQAQQE LFNELKPAVD GANFIVNHMR DQNNYNEEKD SWNRVARTVD RLCLFVVTPV
MVVGTAWIFL QGVYNQPPPQ PFPGDPYSYN VQDKRFI*

mutated AA sequence

MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNPISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND
GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFS SLKYTAKEIT
LSLKQDAKEN RTYPVEWIII DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL
IIRRKPLFYI INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP
ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL FLETLPELLH
MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM FEKQSERHGL ARRLTTARRP
PASSEQAQQE LFNELKPAVD GANFIVNHMR DQNNYNEEKD SWNRVARTVD RLCLFVVTPV
MVVGTAWIFL QGVYNQPPPQ PFPGDPYSYN VQDKRFI*

speed

0.49 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

disease causing

Model: simple_aae, prob: 0.999999999999328 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081556)
known disease mutation: rs18371 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233391374T>CN/A show variant in all transcripts IGV

HGNC symbol

CHRND

Ensembl transcript ID

ENST00000543200

Genbank transcript ID

N/A

UniProt peptide

Q07001

alteration type

single base exchange

alteration region

CDS

DNA changes

c.188T>C
cDNA.244T>C
g.672T>C

AA changes

L63P Score: 98 explain score(s)

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

frameshift

known variant

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.101	1
	4.743	1
(flanking)	1.009	1

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 marginally increased	672	wt: 0.2346 / mu: 0.2380 (marginal change - not scored)	wt: GGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAGGCC mu: GGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAGGCC	acct\|CATC
Acc marginally decreased	681	wt: 0.9492 / mu: 0.9213 (marginal change - not scored)	wt: ACTCTCCAACCTCATCTCCCTGGTGAGAGGCCCTCCGGTGC mu: ACTCTCCAACCCCATCTCCCTGGTGAGAGGCCCTCCGGTGC	ccct\|GGTG
Acc increased	669	wt: 0.33 / mu: 0.41	wt: CCTGGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAG mu: CCTGGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAG	ccaa\|CCTC
Acc marginally increased	679	wt: 0.3647 / mu: 0.3686 (marginal change - not scored)	wt: ACACTCTCCAACCTCATCTCCCTGGTGAGAGGCCCTCCGGT mu: ACACTCTCCAACCCCATCTCCCTGGTGAGAGGCCCTCCGGT	ctcc\|CTGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000013040

LKEVEETLTTNVWIEH

Mmulatta

all identical

ENSMMUG00000022147

LKEVEETLTTNVWIEH

Fcatus

all identical

ENSFCAG00000005679

KEVEETLTTNVWMEH

Mmusculus

all identical

ENSMUSG00000026251

LKEVEETLTTNVWIDH

Ggallus

all identical

ENSGALG00000007899

Trubripes

no homologue

Drerio

all identical

ENSDARG00000019342

LKEVDETLLTNVWME

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000027884

LKEA

protein features

start (aa)	end (aa)	feature	details
22	245	TOPO_DOM	Extracellular (Potential).	lost
97	97	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
151	151	DISULFID	By similarity.	might get lost (downstream of altered splice site)
164	164	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
165	165	DISULFID	By similarity.	might get lost (downstream of altered splice site)
246	270	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
278	299	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
312	333	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
334	471	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
390	390	MOD_RES	Phosphotyrosine; by Tyr-kinases (By similarity).	might get lost (downstream of altered splice site)
472	490	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1509 / 1509

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

503 / 503

position of stopcodon in wt / mu cDNA

1565 / 1565

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

57 / 57

chromosome

strand

last intron/exon boundary

1383

theoretical NMD boundary in CDS

1276

length of CDS

1509

coding sequence (CDS) position

188

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

244

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

672

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

233391374

original gDNA sequence snippet

GGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAGGCC

altered gDNA sequence snippet

GGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAGGCC

original cDNA sequence snippet

GGCCCTCACACTCTCCAACCTCATCTCCCTGGGCTGGACAG

altered cDNA sequence snippet

GGCCCTCACACTCTCCAACCCCATCTCCCTGGGCTGGACAG

wildtype AA sequence

MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNLISLGWTD NRLKWNAEEF GNISVLRLPP DMVWLPEIVL ENNNDGSFQI SYSCNVLVYH
YGFVYWLPPA IFRSSCPISV TYFPFDWQNC SLKFSSLKYT AKEITLSLKQ DAKENRTYPV
EWIIIDPEGF TENGEWEIVH RPARVNVDPR APLDSPSRQD ITFYLIIRRK PLFYIINILV
PCVLISFMVN LVFYLPADSG EKTSVAISVL LAQSVFLLLI SKRLPATSMA IPLIGKFLLF
GMVLVTMVVV ICVIVLNIHF RTPSTHVLSE GVKKLFLETL PELLHMSRPA EDGPSPGALV
RRSSSLGYIS KAEEYFLLKS RSDLMFEKQS ERHGLARRLT TARRPPASSE QAQQELFNEL
KPAVDGANFI VNHMRDQNNY NEEKDSWNRV ARTVDRLCLF VVTPVMVVGT AWIFLQGVYN
QPPPQPFPGD PYSYNVQDKR FI*

mutated AA sequence

MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNPISLGWTD NRLKWNAEEF GNISVLRLPP DMVWLPEIVL ENNNDGSFQI SYSCNVLVYH
YGFVYWLPPA IFRSSCPISV TYFPFDWQNC SLKFSSLKYT AKEITLSLKQ DAKENRTYPV
EWIIIDPEGF TENGEWEIVH RPARVNVDPR APLDSPSRQD ITFYLIIRRK PLFYIINILV
PCVLISFMVN LVFYLPADSG EKTSVAISVL LAQSVFLLLI SKRLPATSMA IPLIGKFLLF
GMVLVTMVVV ICVIVLNIHF RTPSTHVLSE GVKKLFLETL PELLHMSRPA EDGPSPGALV
RRSSSLGYIS KAEEYFLLKS RSDLMFEKQS ERHGLARRLT TARRPPASSE QAQQELFNEL
KPAVDGANFI VNHMRDQNNY NEEKDSWNRV ARTVDRLCLF VVTPVMVVGT AWIFLQGVYN
QPPPQPFPGD PYSYNVQDKR FI*

speed

0.49 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999328 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081556)
known disease mutation: rs18371 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233391374T>CN/A show variant in all transcripts IGV

HGNC symbol

CHRND

Ensembl transcript ID

ENST00000536614

Genbank transcript ID

N/A

UniProt peptide

Q07001

alteration type

single base exchange

alteration region

CDS

DNA changes

c.188T>C
cDNA.216T>C
g.672T>C

AA changes

L63P Score: 98 explain score(s)

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

frameshift

known variant

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.101	1
	4.743	1
(flanking)	1.009	1

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 marginally increased	672	wt: 0.2346 / mu: 0.2380 (marginal change - not scored)	wt: GGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAGGCC mu: GGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAGGCC	acct\|CATC
Acc marginally decreased	681	wt: 0.9492 / mu: 0.9213 (marginal change - not scored)	wt: ACTCTCCAACCTCATCTCCCTGGTGAGAGGCCCTCCGGTGC mu: ACTCTCCAACCCCATCTCCCTGGTGAGAGGCCCTCCGGTGC	ccct\|GGTG
Acc increased	669	wt: 0.33 / mu: 0.41	wt: CCTGGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAG mu: CCTGGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAG	ccaa\|CCTC
Acc marginally increased	679	wt: 0.3647 / mu: 0.3686 (marginal change - not scored)	wt: ACACTCTCCAACCTCATCTCCCTGGTGAGAGGCCCTCCGGT mu: ACACTCTCCAACCCCATCTCCCTGGTGAGAGGCCCTCCGGT	ctcc\|CTGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000013040

Mmulatta

all identical

ENSMMUG00000022147

Fcatus

all identical

ENSFCAG00000005679

Mmusculus

all identical

ENSMUSG00000026251

Ggallus

all identical

ENSGALG00000007899

Trubripes

no homologue

Drerio

all identical

ENSDARG00000019342

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000027884

protein features

start (aa)	end (aa)	feature	details
22	245	TOPO_DOM	Extracellular (Potential).	lost
97	97	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
151	151	DISULFID	By similarity.	might get lost (downstream of altered splice site)
164	164	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
165	165	DISULFID	By similarity.	might get lost (downstream of altered splice site)
246	270	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
278	299	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
312	333	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
334	471	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
390	390	MOD_RES	Phosphotyrosine; by Tyr-kinases (By similarity).	might get lost (downstream of altered splice site)
472	490	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

708 / 708

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

236 / 236

position of stopcodon in wt / mu cDNA

736 / 736

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

29 / 29

chromosome

strand

last intron/exon boundary

851

theoretical NMD boundary in CDS

772

length of CDS

708

coding sequence (CDS) position

188

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

216

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

672

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

233391374

original gDNA sequence snippet

GGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAGGCC

altered gDNA sequence snippet

GGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAGGCC

original cDNA sequence snippet

GGCCCTCACACTCTCCAACCTCATCTCCCTGAAAGAAGTTG

altered cDNA sequence snippet

GGCCCTCACACTCTCCAACCCCATCTCCCTGAAAGAAGTTG

wildtype AA sequence

mutated AA sequence

speed

0.45 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM081556)
known disease mutation: rs18371 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233391374T>CN/A show variant in all transcripts IGV

HGNC symbol

CHRND

Ensembl transcript ID

ENST00000457943

Genbank transcript ID

N/A

UniProt peptide

Q07001

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.216T>C
g.672T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.101	1
	4.743	1
(flanking)	1.009	1

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

splice sites

splice site change before start ATG (at aa -28) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	672	wt: 0.2346 / mu: 0.2380 (marginal change - not scored)	wt: GGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAGGCC mu: GGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAGGCC	acct\|CATC
Acc marginally decreased	681	wt: 0.9492 / mu: 0.9213 (marginal change - not scored)	wt: ACTCTCCAACCTCATCTCCCTGGTGAGAGGCCCTCCGGTGC mu: ACTCTCCAACCCCATCTCCCTGGTGAGAGGCCCTCCGGTGC	ccct\|GGTG
Acc increased	669	wt: 0.33 / mu: 0.41	wt: CCTGGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAG mu: CCTGGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAG	ccaa\|CCTC
Acc marginally increased	679	wt: 0.3647 / mu: 0.3686 (marginal change - not scored)	wt: ACACTCTCCAACCTCATCTCCCTGGTGAGAGGCCCTCCGGT mu: ACACTCTCCAACCCCATCTCCCTGGTGAGAGGCCCTCCGGT	ctcc\|CTGG

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	21	SIGNAL	By similarity.	might get lost (downstream of altered splice site)
22	245	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
97	97	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
151	151	DISULFID	By similarity.	might get lost (downstream of altered splice site)
164	164	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
165	165	DISULFID	By similarity.	might get lost (downstream of altered splice site)
246	270	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
278	299	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
312	333	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
334	471	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
390	390	MOD_RES	Phosphotyrosine; by Tyr-kinases (By similarity).	might get lost (downstream of altered splice site)
472	490	TRANSMEM	Helical; (Potential).	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

300 / 300

chromosome

strand

last intron/exon boundary

1089

theoretical NMD boundary in CDS

739

length of CDS

972

coding sequence (CDS) position

N/A

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

216

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

672

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

233391374

original gDNA sequence snippet

GGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAGGCC

altered gDNA sequence snippet

GGCCCTCACACTCTCCAACCCCATCTCCCTGGTGAGAGGCC

original cDNA sequence snippet

GGCCCTCACACTCTCCAACCTCATCTCCCTGAAAGAAGTTG

altered cDNA sequence snippet

GGCCCTCACACTCTCCAACCCCATCTCCCTGAAAGAAGTTG

wildtype AA sequence

MLKNLETSVS CASPRTWCGS QRLCWRTTMT APSRSPTPAT CLSTTTASCT GCHLPSSAPP
APSLSPISPS TGRTAPSSSG GEKTSVAISV LLAQSVFLLL ISKRLPATSM AIPLIGKFLL
FGMVLVTMVV VICVIVLNIH FRTPSTHVLS EGVKKLFLET LPELLHMSRP AEDGPSPGAL
VRRSSSLGYI SKAEEYFLLK SRSDLMFEKQ SERHGLARRL TTARRPPASS EQAQQELFNE
LKPAVDGANF IVNHMRDQNN YNEEKDSWNR VARTVDRLCL FVVTPVMVVG TAWIFLQGVY
NQPPPQPFPG DPYSYNVQDK RFI*

mutated AA sequence

N/A

speed

0.66 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems