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: ENST00000405237
Querying Taster for transcript #2: ENST00000312108
Querying Taster for transcript #3: ENST00000395650
Querying Taster for transcript #4: ENST00000360719
Querying Taster for transcript #5: ENST00000457250
Querying Taster for transcript #6: ENST00000440709
Querying Taster for transcript #7: ENST00000434492
MT speed 0 s - this script 5.050965 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CPT1B	polymorphism_automatic	0.999999999303188	simple_aae		affected		E450K	single base exchange	rs470117		show file
CPT1B	polymorphism_automatic	0.999999999303188	simple_aae		affected		E326K	single base exchange	rs470117		show file
CPT1B	polymorphism_automatic	0.999999999303188	simple_aae		affected		E531K	single base exchange	rs470117		show file
CPT1B	polymorphism_automatic	0.999999999303188	simple_aae		affected		E531K	single base exchange	rs470117		show file
CPT1B	polymorphism_automatic	0.999999999303188	simple_aae		affected		E531K	single base exchange	rs470117		show file
CPT1B	polymorphism_automatic	0.999999999303188	simple_aae		affected		E531K	single base exchange	rs470117		show file
CPT1B	polymorphism_automatic	0.999999999303188	simple_aae		affected		E497K	single base exchange	rs470117		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.96811860894806e-10 (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 CM070885)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:51009953C>TN/A show variant in all transcripts IGV

HGNC symbol

CPT1B

Ensembl transcript ID

ENST00000440709

Genbank transcript ID

NM_001145136

UniProt peptide

Q92523

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1348G>A
cDNA.1486G>A
g.7947G>A

AA changes

E450K Score: 56 explain score(s)

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

450

frameshift

known variant

Reference ID: rs470117

database	homozygous (T/T)	heterozygous	allele carriers
1000G	333	1011	1344
ExAC	11196	10375	21571

known disease mutation at this position, please check HGMD for details (HGMD ID CM070885)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.529	1
	5.482	1
(flanking)	0.497	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
Donor gained	7943	0.54	mu: GCGGTCATCAAGAGT	GGTC\|atca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

450

mutated

all conserved

450

Ptroglodytes

all identical

ENSPTRG00000014548

531

Mmulatta

all identical

ENSMMUG00000003121

528

Fcatus

all identical

ENSFCAG00000010593

528

Mmusculus

all identical

ENSMUSG00000078937

531

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000011589

529

Drerio

all identical

ENSDARG00000058285

529

Dmelanogaster

all identical

FBgn0261862

529

Celegans

not conserved

Y46G5A.17

532

Xtropicalis

all identical

ENSXETG00000015426

529

protein features

start (aa)	end (aa)	feature	details
123	772	TOPO_DOM	Cytoplasmic (Potential).	lost
473	473	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
589	589	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)
602	602	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2076 / 2076

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

692 / 692

position of stopcodon in wt / mu cDNA

2214 / 2214

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

139 / 139

chromosome

strand

-1

last intron/exon boundary

2217

theoretical NMD boundary in CDS

2028

length of CDS

2076

coding sequence (CDS) position

1348

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

1486

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

7947

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

51009953

original gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

original cDNA sequence snippet

AACAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered cDNA sequence snippet

AACAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

wildtype AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLSLYGK
ALLHGNCYNR WFDKSFTLIS FKNGQLGLNA EHAWADAPII GHLWEFVLGT DSFHLGYTET
GHCLGKPNPA LAPPTRLQWD IPKQCQAVIE SSYQVAKALA DDVELYCFQF LPFGKGLIKK
CRTSPDAFVQ IALQLAHFRD RGKFCLTYEA SMTRMFREGR TETVRSCTSE STAFVQAMME
GSHTKADLRD LFQKAAKKHQ NMYRLAMTGA GIDRHLFCLY LVSKYLGVSS PFLAEVLSEP
WRLSTSQIPQ SQIRMFDPEQ HPNHLGAGGG FGPVADDGYG VSYMIAGENT IFFHISSKFS
SSETNAQRFG NHIRKALLDI ADLFQVPKAY S*

mutated AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLSLYGK
ALLHGNCYNR WFDKSFTLIS FKNGQLGLNA EHAWADAPII GHLWEFVLGT DSFHLGYTET
GHCLGKPNPA LAPPTRLQWD IPKQCQAVIK SSYQVAKALA DDVELYCFQF LPFGKGLIKK
CRTSPDAFVQ IALQLAHFRD RGKFCLTYEA SMTRMFREGR TETVRSCTSE STAFVQAMME
GSHTKADLRD LFQKAAKKHQ NMYRLAMTGA GIDRHLFCLY LVSKYLGVSS PFLAEVLSEP
WRLSTSQIPQ SQIRMFDPEQ HPNHLGAGGG FGPVADDGYG VSYMIAGENT IFFHISSKFS
SSETNAQRFG NHIRKALLDI ADLFQVPKAY S*

speed

1.27 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: 6.96811860894806e-10 (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 CM070885)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:51009953C>TN/A show variant in all transcripts IGV

HGNC symbol

CPT1B

Ensembl transcript ID

ENST00000434492

Genbank transcript ID

N/A

UniProt peptide

Q92523

alteration type

single base exchange

alteration region

CDS

DNA changes

c.976G>A
cDNA.1936G>A
g.7947G>A

AA changes

E326K Score: 56 explain score(s)

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

326

frameshift

known variant

Reference ID: rs470117

database	homozygous (T/T)	heterozygous	allele carriers
1000G	333	1011	1344
ExAC	11196	10375	21571

known disease mutation at this position, please check HGMD for details (HGMD ID CM070885)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.529	1
	5.482	1
(flanking)	0.497	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
Donor gained	7943	0.54	mu: GCGGTCATCAAGAGT	GGTC\|atca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

326

mutated

all conserved

326

Ptroglodytes

all identical

ENSPTRG00000014548

529

KQC

Mmulatta

all identical

ENSMMUG00000003121

526

QCQ

Fcatus

all identical

ENSFCAG00000010593

526

KQC

Mmusculus

all identical

ENSMUSG00000078937

529

CRE

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000011589

527

ECK

Drerio

all identical

ENSDARG00000058285

527

KAC

Dmelanogaster

all identical

FBgn0261862

527

Celegans

not conserved

Y46G5A.17

530

LDQ

Xtropicalis

all identical

ENSXETG00000015426

527

CRE

protein features

start (aa)	end (aa)	feature	details
123	772	TOPO_DOM	Cytoplasmic (Potential).	lost
473	473	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
589	589	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)
602	602	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1704 / 1704

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

568 / 568

position of stopcodon in wt / mu cDNA

2664 / 2664

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

961 / 961

chromosome

strand

-1

last intron/exon boundary

2667

theoretical NMD boundary in CDS

1656

length of CDS

1704

coding sequence (CDS) position

976

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

1936

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

7947

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

51009953

original gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

original cDNA sequence snippet

TTCCAAAACAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered cDNA sequence snippet

TTCCAAAACAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

wildtype AA sequence

MELLAKEFQD KTAPRLQKYL VLKSWWASNY VSDWWEEYIY LRGRSPLMVN SNYYVMDLVL
IKNTDVQAAR LGNIIHAMIM YRRKLDREEI KPVMALGIVP MCSYQMERMF NTTRIPGKDT
DVLQHLSDSR HVAVYHKGRF FKLWLYEGAR LLKPQDLEMQ FQRILDDPSP PQPGEEKLAA
LTAGGRVEWA QARQAFFSSG KNKAALEAIE RAAFFVALDE ESYSYDPEDE ASLSLYGKAL
LHGNCYNRWF DKSFTLISFK NGQLGLNAEH AWADAPIIGH LWEFVLGTDS FHLGYTETGH
CLGKPNPALA PPTRLQWDIP KQAVIESSYQ VAKALADDVE LYCFQFLPFG KGLIKKCRTS
PDAFVQIALQ LAHFRDRGKF CLTYEASMTR MFREGRTETV RSCTSESTAF VQAMMEGSHT
KADLRDLFQK AAKKHQNMYR LAMTGAGIDR HLFCLYLVSK YLGVSSPFLA EVLSEPWRLS
TSQIPQSQIR MFDPEQHPNH LGAGGGFGPV ADDGYGVSYM IAGENTIFFH ISSKFSSSET
NAQRFGNHIR KALLDIADLF QVPKAYS*

mutated AA sequence

MELLAKEFQD KTAPRLQKYL VLKSWWASNY VSDWWEEYIY LRGRSPLMVN SNYYVMDLVL
IKNTDVQAAR LGNIIHAMIM YRRKLDREEI KPVMALGIVP MCSYQMERMF NTTRIPGKDT
DVLQHLSDSR HVAVYHKGRF FKLWLYEGAR LLKPQDLEMQ FQRILDDPSP PQPGEEKLAA
LTAGGRVEWA QARQAFFSSG KNKAALEAIE RAAFFVALDE ESYSYDPEDE ASLSLYGKAL
LHGNCYNRWF DKSFTLISFK NGQLGLNAEH AWADAPIIGH LWEFVLGTDS FHLGYTETGH
CLGKPNPALA PPTRLQWDIP KQAVIKSSYQ VAKALADDVE LYCFQFLPFG KGLIKKCRTS
PDAFVQIALQ LAHFRDRGKF CLTYEASMTR MFREGRTETV RSCTSESTAF VQAMMEGSHT
KADLRDLFQK AAKKHQNMYR LAMTGAGIDR HLFCLYLVSK YLGVSSPFLA EVLSEPWRLS
TSQIPQSQIR MFDPEQHPNH LGAGGGFGPV ADDGYGVSYM IAGENTIFFH ISSKFSSSET
NAQRFGNHIR KALLDIADLF QVPKAYS*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.96811860894806e-10 (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 CM070885)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:51009953C>TN/A show variant in all transcripts IGV

HGNC symbol

CPT1B

Ensembl transcript ID

ENST00000405237

Genbank transcript ID

NM_001145135

UniProt peptide

Q92523

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1591G>A
cDNA.1696G>A
g.7947G>A

AA changes

E531K Score: 56 explain score(s)

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

531

frameshift

known variant

Reference ID: rs470117

database	homozygous (T/T)	heterozygous	allele carriers
1000G	333	1011	1344
ExAC	11196	10375	21571

known disease mutation at this position, please check HGMD for details (HGMD ID CM070885)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.529	1
	5.482	1
(flanking)	0.497	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
Donor gained	7943	0.54	mu: GCGGTCATCAAGAGT	GGTC\|atca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

531

mutated

all conserved

531

Ptroglodytes

all identical

ENSPTRG00000014548

531

Mmulatta

all identical

ENSMMUG00000003121

528

Fcatus

all identical

ENSFCAG00000010593

528

Mmusculus

all identical

ENSMUSG00000078937

531

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000011589

529

Drerio

all identical

ENSDARG00000058285

529

Dmelanogaster

all identical

FBgn0261862

529

Celegans

not conserved

Y46G5A.17

532

Xtropicalis

all identical

ENSXETG00000015426

529

protein features

start (aa)	end (aa)	feature	details
123	772	TOPO_DOM	Cytoplasmic (Potential).	lost
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
589	589	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)
602	602	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2319 / 2319

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

773 / 773

position of stopcodon in wt / mu cDNA

2424 / 2424

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

106 / 106

chromosome

strand

-1

last intron/exon boundary

2427

theoretical NMD boundary in CDS

2271

length of CDS

2319

coding sequence (CDS) position

1591

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

1696

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

7947

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

51009953

original gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

original cDNA sequence snippet

AACAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered cDNA sequence snippet

AACAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

wildtype AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI ESSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*

mutated AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI KSSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.96811860894806e-10 (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 CM070885)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:51009953C>TN/A show variant in all transcripts IGV

HGNC symbol

CPT1B

Ensembl transcript ID

ENST00000312108

Genbank transcript ID

NM_152246

UniProt peptide

Q92523

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1591G>A
cDNA.1642G>A
g.7947G>A

AA changes

E531K Score: 56 explain score(s)

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

531

frameshift

known variant

Reference ID: rs470117

database	homozygous (T/T)	heterozygous	allele carriers
1000G	333	1011	1344
ExAC	11196	10375	21571

known disease mutation at this position, please check HGMD for details (HGMD ID CM070885)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.529	1
	5.482	1
(flanking)	0.497	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
Donor gained	7943	0.54	mu: GCGGTCATCAAGAGT	GGTC\|atca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

531

mutated

all conserved

531

Ptroglodytes

all identical

ENSPTRG00000014548

531

Mmulatta

all identical

ENSMMUG00000003121

528

Fcatus

all identical

ENSFCAG00000010593

528

Mmusculus

all identical

ENSMUSG00000078937

531

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000011589

529

Drerio

all identical

ENSDARG00000058285

529

Dmelanogaster

all identical

FBgn0261862

529

Celegans

not conserved

Y46G5A.17

532

Xtropicalis

all identical

ENSXETG00000015426

529

protein features

start (aa)	end (aa)	feature	details
123	772	TOPO_DOM	Cytoplasmic (Potential).	lost
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
589	589	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)
602	602	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2319 / 2319

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

773 / 773

position of stopcodon in wt / mu cDNA

2370 / 2370

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

52 / 52

chromosome

strand

-1

last intron/exon boundary

2373

theoretical NMD boundary in CDS

2271

length of CDS

2319

coding sequence (CDS) position

1591

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

1642

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

7947

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

51009953

original gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

original cDNA sequence snippet

AACAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered cDNA sequence snippet

AACAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

wildtype AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI ESSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*

mutated AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI KSSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.96811860894806e-10 (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 CM070885)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:51009953C>TN/A show variant in all transcripts IGV

HGNC symbol

CPT1B

Ensembl transcript ID

ENST00000395650

Genbank transcript ID

N/A

UniProt peptide

Q92523

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1591G>A
cDNA.1680G>A
g.7947G>A

AA changes

E531K Score: 56 explain score(s)

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

531

frameshift

known variant

Reference ID: rs470117

database	homozygous (T/T)	heterozygous	allele carriers
1000G	333	1011	1344
ExAC	11196	10375	21571

known disease mutation at this position, please check HGMD for details (HGMD ID CM070885)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.529	1
	5.482	1
(flanking)	0.497	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
Donor gained	7943	0.54	mu: GCGGTCATCAAGAGT	GGTC\|atca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

531

mutated

all conserved

531

Ptroglodytes

all identical

ENSPTRG00000014548

531

Mmulatta

all identical

ENSMMUG00000003121

528

Fcatus

all identical

ENSFCAG00000010593

528

Mmusculus

all identical

ENSMUSG00000078937

531

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000011589

529

Drerio

all identical

ENSDARG00000058285

529

Dmelanogaster

all identical

FBgn0261862

529

Celegans

not conserved

Y46G5A.17

532

Xtropicalis

all identical

ENSXETG00000015426

529

protein features

start (aa)	end (aa)	feature	details
123	772	TOPO_DOM	Cytoplasmic (Potential).	lost
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
589	589	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)
602	602	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2319 / 2319

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

773 / 773

position of stopcodon in wt / mu cDNA

2408 / 2408

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

90 / 90

chromosome

strand

-1

last intron/exon boundary

2325

theoretical NMD boundary in CDS

2185

length of CDS

2319

coding sequence (CDS) position

1591

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

1680

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

7947

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

51009953

original gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

original cDNA sequence snippet

AACAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered cDNA sequence snippet

AACAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

wildtype AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI ESSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*

mutated AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI KSSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*

speed

1.06 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.96811860894806e-10 (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 CM070885)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:51009953C>TN/A show variant in all transcripts IGV

HGNC symbol

CPT1B

Ensembl transcript ID

ENST00000360719

Genbank transcript ID

NM_004377

UniProt peptide

Q92523

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1591G>A
cDNA.1729G>A
g.7947G>A

AA changes

E531K Score: 56 explain score(s)

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

531

frameshift

known variant

Reference ID: rs470117

database	homozygous (T/T)	heterozygous	allele carriers
1000G	333	1011	1344
ExAC	11196	10375	21571

known disease mutation at this position, please check HGMD for details (HGMD ID CM070885)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.529	1
	5.482	1
(flanking)	0.497	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
Donor gained	7943	0.54	mu: GCGGTCATCAAGAGT	GGTC\|atca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

531

mutated

all conserved

531

Ptroglodytes

all identical

ENSPTRG00000014548

531

Mmulatta

all identical

ENSMMUG00000003121

528

Fcatus

all identical

ENSFCAG00000010593

528

Mmusculus

all identical

ENSMUSG00000078937

531

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000011589

529

Drerio

all identical

ENSDARG00000058285

529

Dmelanogaster

all identical

FBgn0261862

529

Celegans

not conserved

Y46G5A.17

532

Xtropicalis

all identical

ENSXETG00000015426

529

protein features

start (aa)	end (aa)	feature	details
123	772	TOPO_DOM	Cytoplasmic (Potential).	lost
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
589	589	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)
602	602	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2319 / 2319

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

773 / 773

position of stopcodon in wt / mu cDNA

2457 / 2457

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

139 / 139

chromosome

strand

-1

last intron/exon boundary

2374

theoretical NMD boundary in CDS

2185

length of CDS

2319

coding sequence (CDS) position

1591

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

1729

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

7947

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

51009953

original gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

original cDNA sequence snippet

AACAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered cDNA sequence snippet

AACAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

wildtype AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI ESSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*

mutated AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI KSSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*

speed

1.03 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.96811860894806e-10 (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 CM070885)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:51009953C>TN/A show variant in all transcripts IGV

HGNC symbol

CPT1B

Ensembl transcript ID

ENST00000457250

Genbank transcript ID

NM_001145134

UniProt peptide

Q92523

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1489G>A
cDNA.1627G>A
g.7947G>A

AA changes

E497K Score: 56 explain score(s)

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

497

frameshift

known variant

Reference ID: rs470117

database	homozygous (T/T)	heterozygous	allele carriers
1000G	333	1011	1344
ExAC	11196	10375	21571

known disease mutation at this position, please check HGMD for details (HGMD ID CM070885)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.529	1
	5.482	1
(flanking)	0.497	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
Donor gained	7943	0.54	mu: GCGGTCATCAAGAGT	GGTC\|atca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

497

mutated

all conserved

497

Ptroglodytes

all identical

ENSPTRG00000014548

531

Mmulatta

all identical

ENSMMUG00000003121

528

Fcatus

all identical

ENSFCAG00000010593

528

Mmusculus

all identical

ENSMUSG00000078937

531

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000011589

529

Drerio

all identical

ENSDARG00000058285

529

Dmelanogaster

all identical

FBgn0261862

529

Celegans

not conserved

Y46G5A.17

532

Xtropicalis

all identical

ENSXETG00000015426

529

protein features

start (aa)	end (aa)	feature	details
123	772	TOPO_DOM	Cytoplasmic (Potential).	lost
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
589	589	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)
602	602	BINDING	Carnitine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2217 / 2217

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

739 / 739

position of stopcodon in wt / mu cDNA

2355 / 2355

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

139 / 139

chromosome

strand

-1

last intron/exon boundary

2358

theoretical NMD boundary in CDS

2169

length of CDS

2217

coding sequence (CDS) position

1489

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

1627

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

7947

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

51009953

original gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered gDNA sequence snippet

GGCAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

original cDNA sequence snippet

AACAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC

altered cDNA sequence snippet

AACAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC

wildtype AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAYLESVRP LLDDEEYYRM ELLAKEFQDK
TAPRLQKYLV LKSWWASNYV SDWWEEYIYL RGRSPLMVNS NYYVMDLVLI KNTDVQAARL
GNIIHAMIMY RRKLDREEIK PVMALGIVPM CSYQMERMFN TTRIPGKDTD VLQHLSDSRH
VAVYHKGRFF KLWLYEGARL LKPQDLEMQF QRILDDPSPP QPGEEKLAAL TAGGRVEWAQ
ARQAFFSSGK NKAALEAIER AAFFVALDEE SYSYDPEDEA SLSLYGKALL HGNCYNRWFD
KSFTLISFKN GQLGLNAEHA WADAPIIGHL WEFVLGTDSF HLGYTETGHC LGKPNPALAP
PTRLQWDIPK QCQAVIESSY QVAKALADDV ELYCFQFLPF GKGLIKKCRT SPDAFVQIAL
QLAHFRDRGK FCLTYEASMT RMFREGRTET VRSCTSESTA FVQAMMEGSH TKADLRDLFQ
KAAKKHQNMY RLAMTGAGID RHLFCLYLVS KYLGVSSPFL AEVLSEPWRL STSQIPQSQI
RMFDPEQHPN HLGAGGGFGP VADDGYGVSY MIAGENTIFF HISSKFSSSE TNAQRFGNHI
RKALLDIADL FQVPKAYS*

mutated AA sequence

MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAYLESVRP LLDDEEYYRM ELLAKEFQDK
TAPRLQKYLV LKSWWASNYV SDWWEEYIYL RGRSPLMVNS NYYVMDLVLI KNTDVQAARL
GNIIHAMIMY RRKLDREEIK PVMALGIVPM CSYQMERMFN TTRIPGKDTD VLQHLSDSRH
VAVYHKGRFF KLWLYEGARL LKPQDLEMQF QRILDDPSPP QPGEEKLAAL TAGGRVEWAQ
ARQAFFSSGK NKAALEAIER AAFFVALDEE SYSYDPEDEA SLSLYGKALL HGNCYNRWFD
KSFTLISFKN GQLGLNAEHA WADAPIIGHL WEFVLGTDSF HLGYTETGHC LGKPNPALAP
PTRLQWDIPK QCQAVIKSSY QVAKALADDV ELYCFQFLPF GKGLIKKCRT SPDAFVQIAL
QLAHFRDRGK FCLTYEASMT RMFREGRTET VRSCTSESTA FVQAMMEGSH TKADLRDLFQ
KAAKKHQNMY RLAMTGAGID RHLFCLYLVS KYLGVSSPFL AEVLSEPWRL STSQIPQSQI
RMFDPEQHPN HLGAGGGFGP VADDGYGVSY MIAGENTIFF HISSKFSSSE TNAQRFGNHI
RKALLDIADL FQVPKAYS*

speed

1.34 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