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: ENST00000403066
Querying Taster for transcript #2: ENST00000215812
Querying Taster for transcript #3: ENST00000402286
Querying Taster for transcript #4: ENST00000401751
Querying Taster for transcript #5: ENST00000415957
Querying Taster for transcript #6: ENST00000539629
Querying Taster for transcript #7: ENST00000540910
MT speed 0 s - this script 2.971041 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SEC14L3	polymorphism_automatic	0.999998912657664	simple_aae		affected		R155H	single base exchange	rs2269961		show file
SEC14L3	polymorphism_automatic	0.999998912657664	simple_aae		affected		R214H	single base exchange	rs2269961		show file
SEC14L3	polymorphism_automatic	0.999998912657664	simple_aae		affected		R137H	single base exchange	rs2269961		show file
SEC14L3	polymorphism_automatic	0.999998912657664	simple_aae		affected		R155H	single base exchange	rs2269961		show file
SEC14L3	polymorphism_automatic	0.999998912657664	simple_aae		affected		R155H	single base exchange	rs2269961		show file
SEC14L3	polymorphism_automatic	0.999998912657664	simple_aae		affected		R155H	single base exchange	rs2269961		show file
SEC14L3	polymorphism_automatic	0.999998912657664	simple_aae		affected		R137H	single base exchange	rs2269961		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.08734233583044e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:30860830C>TN/A show variant in all transcripts IGV

HGNC symbol

SEC14L3

Ensembl transcript ID

ENST00000403066

Genbank transcript ID

N/A

UniProt peptide

Q9UDX4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.464G>A
cDNA.748G>A
g.7207G>A

AA changes

R155H Score: 29 explain score(s)

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

155

frameshift

known variant

Reference ID: rs2269961

database	homozygous (T/T)	heterozygous	allele carriers
1000G	141	820	961
ExAC	3060	20060	23120

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.011	0.987
	3.982	1
(flanking)	2.823	0.997

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	7209	wt: 0.9417 / mu: 0.9747 (marginal change - not scored)	wt: CTCGCAGGAAAATTA mu: CTCACAGGAAAATTA	CGCA\|ggaa
Donor marginally increased	7210	wt: 0.9779 / mu: 0.9902 (marginal change - not scored)	wt: TCGCAGGAAAATTAT mu: TCACAGGAAAATTAT	GCAG\|gaaa
Donor increased	7199	wt: 0.25 / mu: 0.34	wt: AGTGAGGACACTCGC mu: AGTGAGGACACTCAC	TGAG\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

155

mutated

not conserved

155

Ptroglodytes

all identical

ENSPTRG00000014246

214

Mmulatta

all identical

ENSMMUG00000019374

214

Fcatus

all identical

ENSFCAG00000008644

214

Mmusculus

all identical

ENSMUSG00000054986

214

Ggallus

all identical

ENSGALG00000007840

214

Trubripes

no homologue

Drerio

all identical

ENSDARG00000059729

215

Dmelanogaster

not conserved

FBgn0035146

213

KSGV

Celegans

not conserved

H06O01.3

211

Xtropicalis

all identical

ENSXETG00000016146

217

protein features

start (aa)	end (aa)	feature	details
76	249	DOMAIN	CRAL-TRIO.	lost
275	383	DOMAIN	GOLD.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1062 / 1062

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

354 / 354

position of stopcodon in wt / mu cDNA

1346 / 1346

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

285 / 285

chromosome

strand

-1

last intron/exon boundary

1189

theoretical NMD boundary in CDS

854

length of CDS

1062

coding sequence (CDS) position

464

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

748

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

7207

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

30860830

original gDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered gDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

original cDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered cDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

wildtype AA sequence

MEFRKTMDID HILDWQPPEV IQKYMPGGLC GYDRDGCPVW YDIIGPLDPK GLLFSVTKQD
LLKTKMRDCE RILHECDLQT ERLGKKIETI VMIFDCEGLG LKHFWKPLVE VYQEFFGLLE
ENYPETLKFM LIVKATKLFP VGYNLMKPFL SEDTRRKIIV LGNNWKEGLL KLISPEELPA
QFGGTLTDPD GNPKCLTKIN YGGEIPKSMY VRDQVKTQYE HSVQINRGSS HQVEYEILFP
GCVLRWQFSS DGADIGFGVF LKTKMGERQR AGEMTDVLPS QRYNAHMVPE DGNLTCSEAG
VYVESESGKS CCHLPVIICS HELQNSHSNS QVMAYQMVRK CKLSRPLPLP ASN*

mutated AA sequence

MEFRKTMDID HILDWQPPEV IQKYMPGGLC GYDRDGCPVW YDIIGPLDPK GLLFSVTKQD
LLKTKMRDCE RILHECDLQT ERLGKKIETI VMIFDCEGLG LKHFWKPLVE VYQEFFGLLE
ENYPETLKFM LIVKATKLFP VGYNLMKPFL SEDTHRKIIV LGNNWKEGLL KLISPEELPA
QFGGTLTDPD GNPKCLTKIN YGGEIPKSMY VRDQVKTQYE HSVQINRGSS HQVEYEILFP
GCVLRWQFSS DGADIGFGVF LKTKMGERQR AGEMTDVLPS QRYNAHMVPE DGNLTCSEAG
VYVESESGKS CCHLPVIICS HELQNSHSNS QVMAYQMVRK CKLSRPLPLP ASN*

speed

0.19 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: 1.08734233583044e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:30860830C>TN/A show variant in all transcripts IGV

HGNC symbol

SEC14L3

Ensembl transcript ID

ENST00000215812

Genbank transcript ID

NM_001257379

UniProt peptide

Q9UDX4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.641G>A
cDNA.732G>A
g.7207G>A

AA changes

R214H Score: 29 explain score(s)

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

214

frameshift

known variant

Reference ID: rs2269961

database	homozygous (T/T)	heterozygous	allele carriers
1000G	141	820	961
ExAC	3060	20060	23120

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.011	0.987
	3.982	1
(flanking)	2.823	0.997

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	7209	wt: 0.9417 / mu: 0.9747 (marginal change - not scored)	wt: CTCGCAGGAAAATTA mu: CTCACAGGAAAATTA	CGCA\|ggaa
Donor marginally increased	7210	wt: 0.9779 / mu: 0.9902 (marginal change - not scored)	wt: TCGCAGGAAAATTAT mu: TCACAGGAAAATTAT	GCAG\|gaaa
Donor increased	7199	wt: 0.25 / mu: 0.34	wt: AGTGAGGACACTCGC mu: AGTGAGGACACTCAC	TGAG\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

214

mutated

not conserved

214

Ptroglodytes

all identical

ENSPTRG00000014246

214

Mmulatta

all identical

ENSMMUG00000019374

214

Fcatus

all identical

ENSFCAG00000008644

214

Mmusculus

all identical

ENSMUSG00000054986

214

Ggallus

all identical

ENSGALG00000007840

214

Trubripes

no homologue

Drerio

all identical

ENSDARG00000059729

215

Dmelanogaster

not conserved

FBgn0035146

213

KSGV

Celegans

not conserved

H06O01.3

211

Xtropicalis

all identical

ENSXETG00000016146

217

protein features

start (aa)	end (aa)	feature	details
76	249	DOMAIN	CRAL-TRIO.	lost
275	383	DOMAIN	GOLD.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1203 / 1203

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

401 / 401

position of stopcodon in wt / mu cDNA

1294 / 1294

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

92 / 92

chromosome

strand

-1

last intron/exon boundary

1173

theoretical NMD boundary in CDS

1031

length of CDS

1203

coding sequence (CDS) position

641

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

732

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

7207

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

30860830

original gDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered gDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

original cDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered cDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

wildtype AA sequence

MSGRVGDLSP KQAETLAKFR ENVQDVLPAL PNPDDYFLLR WLRARNFDLQ KSEALLRKYM
EFRKTMDIDH ILDWQPPEVI QKYMPGGLCG YDRDGCPVWY DIIGPLDPKG LLFSVTKQDL
LKTKMRDCER ILHECDLQTE RLGKKIETIV MIFDCEGLGL KHFWKPLVEV YQEFFGLLEE
NYPETLKFML IVKATKLFPV GYNLMKPFLS EDTRRKIIVL GNNWKEGLLK LISPEELPAQ
FGGTLTDPDG NPKCLTKINY GGEIPKSMYV RDQVKTQYEH SVQINRGSSH QVEYEILFPG
CVLRWQFSSD GADIGFGVFL KTKMGERQRA GEMTDVLPSQ RYNAHMVPED GNLTCSEAGV
YVLRFDNTYS FVHAKKVSFT VEVLLPDEGM QKYDKELTPV *

mutated AA sequence

MSGRVGDLSP KQAETLAKFR ENVQDVLPAL PNPDDYFLLR WLRARNFDLQ KSEALLRKYM
EFRKTMDIDH ILDWQPPEVI QKYMPGGLCG YDRDGCPVWY DIIGPLDPKG LLFSVTKQDL
LKTKMRDCER ILHECDLQTE RLGKKIETIV MIFDCEGLGL KHFWKPLVEV YQEFFGLLEE
NYPETLKFML IVKATKLFPV GYNLMKPFLS EDTHRKIIVL GNNWKEGLLK LISPEELPAQ
FGGTLTDPDG NPKCLTKINY GGEIPKSMYV RDQVKTQYEH SVQINRGSSH QVEYEILFPG
CVLRWQFSSD GADIGFGVFL KTKMGERQRA GEMTDVLPSQ RYNAHMVPED GNLTCSEAGV
YVLRFDNTYS FVHAKKVSFT VEVLLPDEGM QKYDKELTPV *

speed

0.16 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.08734233583044e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:30860830C>TN/A show variant in all transcripts IGV

HGNC symbol

SEC14L3

Ensembl transcript ID

ENST00000402286

Genbank transcript ID

NM_001257378

UniProt peptide

Q9UDX4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.410G>A
cDNA.887G>A
g.7207G>A

AA changes

R137H Score: 29 explain score(s)

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

137

frameshift

known variant

Reference ID: rs2269961

database	homozygous (T/T)	heterozygous	allele carriers
1000G	141	820	961
ExAC	3060	20060	23120

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.011	0.987
	3.982	1
(flanking)	2.823	0.997

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	7209	wt: 0.9417 / mu: 0.9747 (marginal change - not scored)	wt: CTCGCAGGAAAATTA mu: CTCACAGGAAAATTA	CGCA\|ggaa
Donor marginally increased	7210	wt: 0.9779 / mu: 0.9902 (marginal change - not scored)	wt: TCGCAGGAAAATTAT mu: TCACAGGAAAATTAT	GCAG\|gaaa
Donor increased	7199	wt: 0.25 / mu: 0.34	wt: AGTGAGGACACTCGC mu: AGTGAGGACACTCAC	TGAG\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

137

mutated

not conserved

137

Ptroglodytes

all identical

ENSPTRG00000014246

214

Mmulatta

all identical

ENSMMUG00000019374

214

Fcatus

all identical

ENSFCAG00000008644

214

Mmusculus

all identical

ENSMUSG00000054986

214

Ggallus

all identical

ENSGALG00000007840

214

Trubripes

no homologue

Drerio

all identical

ENSDARG00000059729

215

Dmelanogaster

not conserved

FBgn0035146

213

KSGV

Celegans

not conserved

H06O01.3

211

Xtropicalis

all identical

ENSXETG00000016146

217

protein features

start (aa)	end (aa)	feature	details
76	249	DOMAIN	CRAL-TRIO.	lost
275	383	DOMAIN	GOLD.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

972 / 972

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

324 / 324

position of stopcodon in wt / mu cDNA

1449 / 1449

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

478 / 478

chromosome

strand

-1

last intron/exon boundary

1328

theoretical NMD boundary in CDS

800

length of CDS

972

coding sequence (CDS) position

410

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

887

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

7207

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

30860830

original gDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered gDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

original cDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered cDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

wildtype AA sequence

MVIQKYMPGG LCGYDRDGCP VWYDIIGPLD PKGLLFSVTK QDLLKTKMRD CERILHECDL
QTERLGKKIE TIVMIFDCEG LGLKHFWKPL VEVYQEFFGL LEENYPETLK FMLIVKATKL
FPVGYNLMKP FLSEDTRRKI IVLGNNWKEG LLKLISPEEL PAQFGGTLTD PDGNPKCLTK
INYGGEIPKS MYVRDQVKTQ YEHSVQINRG SSHQVEYEIL FPGCVLRWQF SSDGADIGFG
VFLKTKMGER QRAGEMTDVL PSQRYNAHMV PEDGNLTCSE AGVYVLRFDN TYSFVHAKKV
SFTVEVLLPD EGMQKYDKEL TPV*

mutated AA sequence

MVIQKYMPGG LCGYDRDGCP VWYDIIGPLD PKGLLFSVTK QDLLKTKMRD CERILHECDL
QTERLGKKIE TIVMIFDCEG LGLKHFWKPL VEVYQEFFGL LEENYPETLK FMLIVKATKL
FPVGYNLMKP FLSEDTHRKI IVLGNNWKEG LLKLISPEEL PAQFGGTLTD PDGNPKCLTK
INYGGEIPKS MYVRDQVKTQ YEHSVQINRG SSHQVEYEIL FPGCVLRWQF SSDGADIGFG
VFLKTKMGER QRAGEMTDVL PSQRYNAHMV PEDGNLTCSE AGVYVLRFDN TYSFVHAKKV
SFTVEVLLPD EGMQKYDKEL TPV*

speed

0.27 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.08734233583044e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:30860830C>TN/A show variant in all transcripts IGV

HGNC symbol

SEC14L3

Ensembl transcript ID

ENST00000401751

Genbank transcript ID

N/A

UniProt peptide

Q9UDX4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.464G>A
cDNA.717G>A
g.7207G>A

AA changes

R155H Score: 29 explain score(s)

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

155

frameshift

known variant

Reference ID: rs2269961

database	homozygous (T/T)	heterozygous	allele carriers
1000G	141	820	961
ExAC	3060	20060	23120

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.011	0.987
	3.982	1
(flanking)	2.823	0.997

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	7209	wt: 0.9417 / mu: 0.9747 (marginal change - not scored)	wt: CTCGCAGGAAAATTA mu: CTCACAGGAAAATTA	CGCA\|ggaa
Donor marginally increased	7210	wt: 0.9779 / mu: 0.9902 (marginal change - not scored)	wt: TCGCAGGAAAATTAT mu: TCACAGGAAAATTAT	GCAG\|gaaa
Donor increased	7199	wt: 0.25 / mu: 0.34	wt: AGTGAGGACACTCGC mu: AGTGAGGACACTCAC	TGAG\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

155

mutated

not conserved

155

Ptroglodytes

all identical

ENSPTRG00000014246

214

Mmulatta

all identical

ENSMMUG00000019374

214

Fcatus

all identical

ENSFCAG00000008644

214

Mmusculus

all identical

ENSMUSG00000054986

214

Ggallus

all identical

ENSGALG00000007840

214

Trubripes

no homologue

Drerio

all identical

ENSDARG00000059729

215

Dmelanogaster

not conserved

FBgn0035146

213

KSGV

Celegans

not conserved

H06O01.3

211

Xtropicalis

all identical

ENSXETG00000016146

217

protein features

start (aa)	end (aa)	feature	details
76	249	DOMAIN	CRAL-TRIO.	lost
275	383	DOMAIN	GOLD.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1026 / 1026

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

342 / 342

position of stopcodon in wt / mu cDNA

1279 / 1279

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

254 / 254

chromosome

strand

-1

last intron/exon boundary

1158

theoretical NMD boundary in CDS

854

length of CDS

1026

coding sequence (CDS) position

464

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

717

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

7207

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

30860830

original gDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered gDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

original cDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered cDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

wildtype AA sequence

mutated AA sequence

MEFRKTMDID HILDWQPPEV IQKYMPGGLC GYDRDGCPVW YDIIGPLDPK GLLFSVTKQD
LLKTKMRDCE RILHECDLQT ERLGKKIETI VMIFDCEGLG LKHFWKPLVE VYQEFFGLLE
ENYPETLKFM LIVKATKLFP VGYNLMKPFL SEDTHRKIIV LGNNWKEGLL KLISPEELPA
QFGGTLTDPD GNPKCLTKIN YGGEIPKSMY VRDQVKTQYE HSVQINRGSS HQVEYEILFP
GCVLRWQFSS DGADIGFGVF LKTKMGERQR AGEMTDVLPS QRYNAHMVPE DGNLTCSEAG
VYVLRFDNTY SFVHAKKVSF TVEVLLPDEG MQKYDKELTP V*

speed

0.12 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.08734233583044e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:30860830C>TN/A show variant in all transcripts IGV

HGNC symbol

SEC14L3

Ensembl transcript ID

ENST00000415957

Genbank transcript ID

N/A

UniProt peptide

Q9UDX4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.464G>A
cDNA.590G>A
g.7207G>A

AA changes

R155H Score: 29 explain score(s)

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

155

frameshift

known variant

Reference ID: rs2269961

database	homozygous (T/T)	heterozygous	allele carriers
1000G	141	820	961
ExAC	3060	20060	23120

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.011	0.987
	3.982	1
(flanking)	2.823	0.997

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	7209	wt: 0.9417 / mu: 0.9747 (marginal change - not scored)	wt: CTCGCAGGAAAATTA mu: CTCACAGGAAAATTA	CGCA\|ggaa
Donor marginally increased	7210	wt: 0.9779 / mu: 0.9902 (marginal change - not scored)	wt: TCGCAGGAAAATTAT mu: TCACAGGAAAATTAT	GCAG\|gaaa
Donor increased	7199	wt: 0.25 / mu: 0.34	wt: AGTGAGGACACTCGC mu: AGTGAGGACACTCAC	TGAG\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

155

mutated

not conserved

155

Ptroglodytes

all identical

ENSPTRG00000014246

214

Mmulatta

all identical

ENSMMUG00000019374

214

Fcatus

all identical

ENSFCAG00000008644

214

Mmusculus

all identical

ENSMUSG00000054986

214

Ggallus

all identical

ENSGALG00000007840

214

Trubripes

no homologue

Drerio

all identical

ENSDARG00000059729

215

Dmelanogaster

not conserved

FBgn0035146

213

KSGV

Celegans

not conserved

H06O01.3

211

Xtropicalis

all identical

ENSXETG00000016146

217

protein features

start (aa)	end (aa)	feature	details
76	249	DOMAIN	CRAL-TRIO.	lost
275	383	DOMAIN	GOLD.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1062 / 1062

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

354 / 354

position of stopcodon in wt / mu cDNA

1188 / 1188

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

127 / 127

chromosome

strand

-1

last intron/exon boundary

1031

theoretical NMD boundary in CDS

854

length of CDS

1062

coding sequence (CDS) position

464

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

590

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

7207

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

30860830

original gDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered gDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

original cDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered cDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

wildtype AA sequence

mutated AA sequence

MEFRKTMDID HILDWQPPEV IQKYMPGGLC GYDRDGCPVW YDIIGPLDPK GLLFSVTKQD
LLKTKMRDCE RILHECDLQT ERLGKKIETI VMIFDCEGLG LKHFWKPLVE VYQEFFGLLE
ENYPETLKFM LIVKATKLFP VGYNLMKPFL SEDTHRKIIV LGNNWKEGLL KLISPEELPA
QFGGTLTDPD GNPKCLTKIN YGGEIPKSMY VRDQVKTQYE HSVQINRGSS HQVEYEILFP
GCVLRWQFSS DGADIGFGVF LKTKMGERQR AGEMTDVLPS QRYNAHMVPE DGNLTCSEAG
VYVESESGKS CCHLPVIICS HELQNSHSNS QVMAYQMVRK CKLSRPLPLP ASN*

speed

0.26 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.08734233583044e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:30860830C>TN/A show variant in all transcripts IGV

HGNC symbol

SEC14L3

Ensembl transcript ID

ENST00000539629

Genbank transcript ID

N/A

UniProt peptide

Q9UDX4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.464G>A
cDNA.787G>A
g.7207G>A

AA changes

R155H Score: 29 explain score(s)

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

155

frameshift

known variant

Reference ID: rs2269961

database	homozygous (T/T)	heterozygous	allele carriers
1000G	141	820	961
ExAC	3060	20060	23120

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.011	0.987
	3.982	1
(flanking)	2.823	0.997

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	7209	wt: 0.9417 / mu: 0.9747 (marginal change - not scored)	wt: CTCGCAGGAAAATTA mu: CTCACAGGAAAATTA	CGCA\|ggaa
Donor marginally increased	7210	wt: 0.9779 / mu: 0.9902 (marginal change - not scored)	wt: TCGCAGGAAAATTAT mu: TCACAGGAAAATTAT	GCAG\|gaaa
Donor increased	7199	wt: 0.25 / mu: 0.34	wt: AGTGAGGACACTCGC mu: AGTGAGGACACTCAC	TGAG\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

155

mutated

not conserved

155

Ptroglodytes

all identical

ENSPTRG00000014246

214

Mmulatta

all identical

ENSMMUG00000019374

214

Fcatus

all identical

ENSFCAG00000008644

214

Mmusculus

all identical

ENSMUSG00000054986

214

Ggallus

all identical

ENSGALG00000007840

214

Trubripes

no homologue

Drerio

all identical

ENSDARG00000059729

215

Dmelanogaster

not conserved

FBgn0035146

213

KSGV

Celegans

not conserved

H06O01.3

211

Xtropicalis

all identical

ENSXETG00000016146

217

protein features

start (aa)	end (aa)	feature	details
76	249	DOMAIN	CRAL-TRIO.	lost
275	383	DOMAIN	GOLD.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1026 / 1026

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

342 / 342

position of stopcodon in wt / mu cDNA

1349 / 1349

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

324 / 324

chromosome

strand

-1

last intron/exon boundary

1228

theoretical NMD boundary in CDS

854

length of CDS

1026

coding sequence (CDS) position

464

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

787

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

7207

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

30860830

original gDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered gDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

original cDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered cDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

wildtype AA sequence

mutated AA sequence

MEFRKTMDID HILDWQPPEV IQKYMPGGLC GYDRDGCPVW YDIIGPLDPK GLLFSVTKQD
LLKTKMRDCE RILHECDLQT ERLGKKIETI VMIFDCEGLG LKHFWKPLVE VYQEFFGLLE
ENYPETLKFM LIVKATKLFP VGYNLMKPFL SEDTHRKIIV LGNNWKEGLL KLISPEELPA
QFGGTLTDPD GNPKCLTKIN YGGEIPKSMY VRDQVKTQYE HSVQINRGSS HQVEYEILFP
GCVLRWQFSS DGADIGFGVF LKTKMGERQR AGEMTDVLPS QRYNAHMVPE DGNLTCSEAG
VYVLRFDNTY SFVHAKKVSF TVEVLLPDEG MQKYDKELTP V*

speed

0.11 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.08734233583044e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:30860830C>TN/A show variant in all transcripts IGV

HGNC symbol

SEC14L3

Ensembl transcript ID

ENST00000540910

Genbank transcript ID

N/A

UniProt peptide

Q9UDX4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.410G>A
cDNA.760G>A
g.7207G>A

AA changes

R137H Score: 29 explain score(s)

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

137

frameshift

known variant

Reference ID: rs2269961

database	homozygous (T/T)	heterozygous	allele carriers
1000G	141	820	961
ExAC	3060	20060	23120

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.011	0.987
	3.982	1
(flanking)	2.823	0.997

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	7209	wt: 0.9417 / mu: 0.9747 (marginal change - not scored)	wt: CTCGCAGGAAAATTA mu: CTCACAGGAAAATTA	CGCA\|ggaa
Donor marginally increased	7210	wt: 0.9779 / mu: 0.9902 (marginal change - not scored)	wt: TCGCAGGAAAATTAT mu: TCACAGGAAAATTAT	GCAG\|gaaa
Donor increased	7199	wt: 0.25 / mu: 0.34	wt: AGTGAGGACACTCGC mu: AGTGAGGACACTCAC	TGAG\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

137

mutated

not conserved

137

Ptroglodytes

all identical

ENSPTRG00000014246

214

Mmulatta

all identical

ENSMMUG00000019374

214

Fcatus

all identical

ENSFCAG00000008644

214

Mmusculus

all identical

ENSMUSG00000054986

214

Ggallus

all identical

ENSGALG00000007840

214

Trubripes

no homologue

Drerio

all identical

ENSDARG00000059729

215

Dmelanogaster

not conserved

FBgn0035146

213

KSGV

Celegans

not conserved

H06O01.3

211

Xtropicalis

all identical

ENSXETG00000016146

217

protein features

start (aa)	end (aa)	feature	details
76	249	DOMAIN	CRAL-TRIO.	lost
275	383	DOMAIN	GOLD.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

972 / 972

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

324 / 324

position of stopcodon in wt / mu cDNA

1322 / 1322

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

351 / 351

chromosome

strand

-1

last intron/exon boundary

1201

theoretical NMD boundary in CDS

800

length of CDS

972

coding sequence (CDS) position

410

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

760

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

7207

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

30860830

original gDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered gDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

original cDNA sequence snippet

ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG

altered cDNA sequence snippet

ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG

wildtype AA sequence

mutated AA sequence

speed

0.12 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