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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000540367
Querying Taster for transcript #2: ENST00000539743
Querying Taster for transcript #3: ENST00000538994
Querying Taster for transcript #4: ENST00000376618
Querying Taster for transcript #5: ENST00000265641
MT speed 0 s - this script 4.762022 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CPT1A	disease_causing_automatic	0.999999999883616	simple_aae		affected	0	T314I	single base exchange	rs80356776		show file
CPT1A	disease_causing_automatic	0.999999999883616	simple_aae		affected	0	T314I	single base exchange	rs80356776		show file
CPT1A	disease_causing_automatic	0.999999999883616	simple_aae		affected	0	T314I	single base exchange	rs80356776		show file
CPT1A	disease_causing_automatic	0.999999999883616	simple_aae		affected	0	T314I	single base exchange	rs80356776		show file
CPT1A	disease_causing_automatic	0.999999999933899	simple_aae		affected	0	T66I	single base exchange	rs80356776		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999883616 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM042690)
known disease mutation: rs65657 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:68560809G>AN/A show variant in all transcripts IGV

HGNC symbol

CPT1A

Ensembl transcript ID

ENST00000540367

Genbank transcript ID

N/A

UniProt peptide

P50416

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941C>T
cDNA.970C>T
g.51070C>T

AA changes

T314I Score: 89 explain score(s)

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

314

frameshift

known variant

Reference ID: rs80356776
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs65657 (pathogenic for Carnitine palmitoyltransferase 1A deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM042690)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042690)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042690)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-4.307	0
	5.929	1
(flanking)	4.896	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	51077	wt: 0.9556 / mu: 0.9572 (marginal change - not scored)	wt: CGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAGG mu: CGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAGG	ccgg\|ATCC
Acc increased	51075	wt: 0.55 / mu: 0.72	wt: AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA mu: AGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACA	tccc\|GGAT
Acc increased	51076	wt: 0.47 / mu: 0.63	wt: GCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAG mu: GCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAG	cccg\|GATC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

all identical

ENSPTRG00000003987

314

Mmulatta

all identical

ENSMMUG00000001780

314

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000024900

314

Ggallus

all identical

ENSGALG00000007077

314

Trubripes

all identical

ENSTRUG00000009681

315

Drerio

all identical

ENSDARG00000062054

314

Dmelanogaster

all identical

FBgn0261862

314

Celegans

all identical

Y46G5A.17

315

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
123	773	TOPO_DOM	Cytoplasmic (Potential).	lost
473	473	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
479	479	CONFLICT	P -> Q (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
568	568	CONFLICT	A -> T (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
588	588	MOD_RES	Phosphothreonine (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)
604	604	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
741	741	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
747	747	MOD_RES	Phosphoserine (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

2271 / 2271

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

757 / 757

position of stopcodon in wt / mu cDNA

2300 / 2300

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

-1

last intron/exon boundary

2265

theoretical NMD boundary in CDS

2185

length of CDS

2271

coding sequence (CDS) position

941

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

970

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

51070

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

68560809

original gDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered gDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

original cDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered cDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

wildtype AA sequence

MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNTSRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETGIISQ GPSSDT*

mutated AA sequence

MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNISRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETGIISQ GPSSDT*

speed

0.79 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: 0.999999999883616 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM042690)
known disease mutation: rs65657 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:68560809G>AN/A show variant in all transcripts IGV

HGNC symbol

CPT1A

Ensembl transcript ID

ENST00000539743

Genbank transcript ID

N/A

UniProt peptide

P50416

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941C>T
cDNA.970C>T
g.51070C>T

AA changes

T314I Score: 89 explain score(s)

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

314

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-4.307	0
	5.929	1
(flanking)	4.896	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	51077	wt: 0.9556 / mu: 0.9572 (marginal change - not scored)	wt: CGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAGG mu: CGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAGG	ccgg\|ATCC
Acc increased	51075	wt: 0.55 / mu: 0.72	wt: AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA mu: AGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACA	tccc\|GGAT
Acc increased	51076	wt: 0.47 / mu: 0.63	wt: GCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAG mu: GCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAG	cccg\|GATC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

all identical

ENSPTRG00000003987

314

Mmulatta

all identical

ENSMMUG00000001780

314

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000024900

314

Ggallus

all identical

ENSGALG00000007077

314

Trubripes

all identical

ENSTRUG00000009681

315

Drerio

all identical

ENSDARG00000062054

314

Dmelanogaster

all identical

FBgn0261862

314

Celegans

all identical

Y46G5A.17

315

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
123	773	TOPO_DOM	Cytoplasmic (Potential).	lost
473	473	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
479	479	CONFLICT	P -> Q (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
568	568	CONFLICT	A -> T (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
588	588	MOD_RES	Phosphothreonine (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)
604	604	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
741	741	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
747	747	MOD_RES	Phosphoserine (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

2322 / 2322

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

774 / 774

position of stopcodon in wt / mu cDNA

2351 / 2351

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

-1

last intron/exon boundary

2265

theoretical NMD boundary in CDS

2185

length of CDS

2322

coding sequence (CDS) position

941

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

970

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

51070

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

68560809

original gDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered gDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

original cDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered cDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

wildtype AA sequence

mutated AA sequence

MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNISRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETDSHRF GRHLKEAMTD IITLFGLSSN SKK*

speed

0.86 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999883616 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM042690)
known disease mutation: rs65657 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:68560809G>AN/A show variant in all transcripts IGV

HGNC symbol

CPT1A

Ensembl transcript ID

ENST00000376618

Genbank transcript ID

NM_001031847

UniProt peptide

P50416

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941C>T
cDNA.1111C>T
g.51070C>T

AA changes

T314I Score: 89 explain score(s)

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

314

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-4.307	0
	5.929	1
(flanking)	4.896	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	51077	wt: 0.9556 / mu: 0.9572 (marginal change - not scored)	wt: CGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAGG mu: CGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAGG	ccgg\|ATCC
Acc increased	51075	wt: 0.55 / mu: 0.72	wt: AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA mu: AGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACA	tccc\|GGAT
Acc increased	51076	wt: 0.47 / mu: 0.63	wt: GCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAG mu: GCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAG	cccg\|GATC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

all identical

ENSPTRG00000003987

314

Mmulatta

all identical

ENSMMUG00000001780

314

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000024900

314

Ggallus

all identical

ENSGALG00000007077

314

Trubripes

all identical

ENSTRUG00000009681

315

Drerio

all identical

ENSDARG00000062054

314

Dmelanogaster

all identical

FBgn0261862

314

Celegans

all identical

Y46G5A.17

315

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
123	773	TOPO_DOM	Cytoplasmic (Potential).	lost
473	473	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
479	479	CONFLICT	P -> Q (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
568	568	CONFLICT	A -> T (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
588	588	MOD_RES	Phosphothreonine (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)
604	604	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
741	741	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
747	747	MOD_RES	Phosphoserine (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

2271 / 2271

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

757 / 757

position of stopcodon in wt / mu cDNA

2441 / 2441

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

171 / 171

chromosome

strand

-1

last intron/exon boundary

2406

theoretical NMD boundary in CDS

2185

length of CDS

2271

coding sequence (CDS) position

941

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

1111

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

51070

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

68560809

original gDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered gDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

original cDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered cDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

wildtype AA sequence

mutated AA sequence

MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNISRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETGIISQ GPSSDT*

speed

0.79 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999883616 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM042690)
known disease mutation: rs65657 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:68560809G>AN/A show variant in all transcripts IGV

HGNC symbol

CPT1A

Ensembl transcript ID

ENST00000265641

Genbank transcript ID

NM_001876

UniProt peptide

P50416

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941C>T
cDNA.1111C>T
g.51070C>T

AA changes

T314I Score: 89 explain score(s)

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

314

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-4.307	0
	5.929	1
(flanking)	4.896	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	51077	wt: 0.9556 / mu: 0.9572 (marginal change - not scored)	wt: CGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAGG mu: CGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAGG	ccgg\|ATCC
Acc increased	51075	wt: 0.55 / mu: 0.72	wt: AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA mu: AGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACA	tccc\|GGAT
Acc increased	51076	wt: 0.47 / mu: 0.63	wt: GCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAG mu: GCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAG	cccg\|GATC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

all identical

ENSPTRG00000003987

314

Mmulatta

all identical

ENSMMUG00000001780

314

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000024900

314

Ggallus

all identical

ENSGALG00000007077

314

Trubripes

all identical

ENSTRUG00000009681

315

Drerio

all identical

ENSDARG00000062054

314

Dmelanogaster

all identical

FBgn0261862

314

Celegans

all identical

Y46G5A.17

315

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
123	773	TOPO_DOM	Cytoplasmic (Potential).	lost
473	473	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
479	479	CONFLICT	P -> Q (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
568	568	CONFLICT	A -> T (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
588	588	MOD_RES	Phosphothreonine (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)
604	604	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
741	741	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
747	747	MOD_RES	Phosphoserine (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

2322 / 2322

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

774 / 774

position of stopcodon in wt / mu cDNA

2492 / 2492

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

171 / 171

chromosome

strand

-1

last intron/exon boundary

2406

theoretical NMD boundary in CDS

2185

length of CDS

2322

coding sequence (CDS) position

941

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

1111

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

51070

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

68560809

original gDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered gDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

original cDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered cDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

wildtype AA sequence

mutated AA sequence

MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNISRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETDSHRF GRHLKEAMTD IITLFGLSSN SKK*

speed

0.92 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999933899 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM042690)
known disease mutation: rs65657 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:68560809G>AN/A show variant in all transcripts IGV

HGNC symbol

CPT1A

Ensembl transcript ID

ENST00000538994

Genbank transcript ID

N/A

UniProt peptide

P50416

alteration type

single base exchange

alteration region

CDS

DNA changes

c.197C>T
cDNA.299C>T
g.51070C>T

AA changes

T66I Score: 89 explain score(s)

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

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-4.307	0
	5.929	1
(flanking)	4.896	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	51077	wt: 0.9556 / mu: 0.9572 (marginal change - not scored)	wt: CGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAGG mu: CGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAGG	ccgg\|ATCC
Acc increased	51075	wt: 0.55 / mu: 0.72	wt: AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA mu: AGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACA	tccc\|GGAT
Acc increased	51076	wt: 0.47 / mu: 0.63	wt: GCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAG mu: GCGGATGTTTAATATTTCCCGGATCCCAGGAGAGGAGACAG	cccg\|GATC

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

ENSPTRG00000003987

314

Mmulatta

all identical

ENSMMUG00000001780

314

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000024900

314

Ggallus

all identical

ENSGALG00000007077

314

Trubripes

all identical

ENSTRUG00000009681

315

Drerio

all identical

ENSDARG00000062054

314

Dmelanogaster

all identical

FBgn0261862

313

Celegans

all identical

Y46G5A.17

316

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
48	73	TRANSMEM	Helical; (Potential).	lost
74	102	TOPO_DOM	Mitochondrial intermembrane (Potential).	might get lost (downstream of altered splice site)
103	122	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
123	773	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
473	473	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
479	479	CONFLICT	P -> Q (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
555	567	REGION	Coenzyme A binding (By similarity).	might get lost (downstream of altered splice site)
568	568	CONFLICT	A -> T (in Ref. 1; AAC41748).	might get lost (downstream of altered splice site)
588	588	MOD_RES	Phosphothreonine (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)
604	604	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
741	741	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
747	747	MOD_RES	Phosphoserine (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

237 / 237

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

79 / 79

position of stopcodon in wt / mu cDNA

339 / 339

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

-1

last intron/exon boundary

326

theoretical NMD boundary in CDS

173

length of CDS

237

coding sequence (CDS) position

197

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

299

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

51070

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

68560809

original gDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered gDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

original cDNA sequence snippet

GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGG

altered cDNA sequence snippet

GTGGGAGCGGATGTTTAATATTTCCCGGATCCCAGGAGAGG

wildtype AA sequence

MVNSNYYAMD LLYILPTHIQ AARAGNAIHA ILLYRRKLDR EEIKPIRLLG STIPLCSAQW
ERMFNTSRIP GEETDDLP*

mutated AA sequence

MVNSNYYAMD LLYILPTHIQ AARAGNAIHA ILLYRRKLDR EEIKPIRLLG STIPLCSAQW
ERMFNISRIP GEETDDLP*

speed

0.88 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

mutation t@sting

Prediction

disease causing

Problems