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 14 transcript(s)...
Querying Taster for transcript #1: ENST00000368167
Querying Taster for transcript #2: ENST00000452291
Querying Taster for transcript #3: ENST00000368165
Querying Taster for transcript #4: ENST00000368166
Querying Taster for transcript #5: ENST00000368163
Querying Taster for transcript #6: ENST00000368164
Querying Taster for transcript #7: ENST00000368157
Querying Taster for transcript #8: ENST00000368156
Querying Taster for transcript #9: ENST00000368155
Querying Taster for transcript #10: ENST00000368154
Querying Taster for transcript #11: ENST00000368160
Querying Taster for transcript #12: ENST00000368161
Querying Taster for transcript #13: ENST00000434258
Querying Taster for transcript #14: ENST00000444681
MT speed 0 s - this script 6.088121 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CD1E	polymorphism_automatic	0	simple_aae		affected		Q106R	single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	0	simple_aae		affected		Q106R	single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	0	simple_aae		affected		Q106R	single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	0	simple_aae		affected		Q106R	single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	0	simple_aae		affected		Q106R	single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	0	simple_aae		affected		Q106R	single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	0	simple_aae		affected		Q104R	single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	0	simple_aae		affected		Q106R	single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	3.32513060419259e-08	without_aae		affected			single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	3.32513060419259e-08	without_aae		affected			single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	3.32513060419259e-08	without_aae		affected			single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	3.32513060419259e-08	without_aae		affected			single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	3.32513060419259e-08	without_aae		affected			single base exchange	rs1065457		show file
CD1E	polymorphism_automatic	3.32513060419259e-08	without_aae		affected			single base exchange	rs1065457		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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 CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368167

Genbank transcript ID

NM_030893

UniProt peptide

P15812

alteration type

single base exchange

alteration region

CDS

DNA changes

c.317A>G
cDNA.556A>G
g.1172A>G

AA changes

Q106R Score: 43 explain score(s)

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

106

frameshift

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

106

mutated

all conserved

106

Ptroglodytes

all conserved

ENSPTRG00000001501

106

Mmulatta

all conserved

ENSMMUG00000016784

106

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

all conserved

ENSGALG00000012494

101

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
87	111	HELIX		lost
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1167 / 1167

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

389 / 389

position of stopcodon in wt / mu cDNA

1406 / 1406

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

240 / 240

chromosome

strand

last intron/exon boundary

1238

theoretical NMD boundary in CDS

948

length of CDS

1167

coding sequence (CDS) position

317

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

556

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered cDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

wildtype AA sequence

MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG
DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIQIVQA SAGQFQLEYP
FEIQILAGCR MNAPQIFLNM AYQGSDFLSF QGISWEPSPG AGIRAQNICK VLNRYLDIKE
ILQSLLGHTC PRFLAGLMEA GESELKRKVK PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV
WVMWMRGEQE QRGTQRGDVL PNADETWYLR ATLDVAAGEA AGLSCRVKHS SLGGHDLIIH
WGGYSIFLIL ICLTVIVTLV ILVVVDSRLK KQSSNKNILS PHTPSPVFLM GANTQDTKNS
RHQFCLAQVS WIKNRVLKKW KTRLNQLW*

mutated AA sequence

MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG
DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIRIVQA SAGQFQLEYP
FEIQILAGCR MNAPQIFLNM AYQGSDFLSF QGISWEPSPG AGIRAQNICK VLNRYLDIKE
ILQSLLGHTC PRFLAGLMEA GESELKRKVK PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV
WVMWMRGEQE QRGTQRGDVL PNADETWYLR ATLDVAAGEA AGLSCRVKHS SLGGHDLIIH
WGGYSIFLIL ICLTVIVTLV ILVVVDSRLK KQSSNKNILS PHTPSPVFLM GANTQDTKNS
RHQFCLAQVS WIKNRVLKKW KTRLNQLW*

speed

0.78 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 (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 CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368165

Genbank transcript ID

NM_001185107

UniProt peptide

P15812

alteration type

single base exchange

alteration region

CDS

DNA changes

c.317A>G
cDNA.423A>G
g.1172A>G

AA changes

Q106R Score: 43 explain score(s)

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

106

frameshift

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

106

mutated

all conserved

106

Ptroglodytes

all conserved

ENSPTRG00000001501

106

Mmulatta

all conserved

ENSMMUG00000016784

106

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

all conserved

ENSGALG00000012494

101

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
87	111	HELIX		lost
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

897 / 897

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

299 / 299

position of stopcodon in wt / mu cDNA

1003 / 1003

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

107 / 107

chromosome

strand

last intron/exon boundary

835

theoretical NMD boundary in CDS

678

length of CDS

897

coding sequence (CDS) position

317

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

423

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered cDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

wildtype AA sequence

MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG
DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIQIVQA SAGQFQLELK
PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV WVMWMRGEQE QRGTQRGDVL PNADETWYLR
ATLDVAAGEA AGLSCRVKHS SLGGHDLIIH WGGYSIFLIL ICLTVIVTLV ILVVVDSRLK
KQSSNKNILS PHTPSPVFLM GANTQDTKNS RHQFCLAQVS WIKNRVLKKW KTRLNQLW*

mutated AA sequence

MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG
DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIRIVQA SAGQFQLELK
PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV WVMWMRGEQE QRGTQRGDVL PNADETWYLR
ATLDVAAGEA AGLSCRVKHS SLGGHDLIIH WGGYSIFLIL ICLTVIVTLV ILVVVDSRLK
KQSSNKNILS PHTPSPVFLM GANTQDTKNS RHQFCLAQVS WIKNRVLKKW KTRLNQLW*

speed

0.36 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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 CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368163

Genbank transcript ID

NM_001042585

UniProt peptide

P15812

alteration type

single base exchange

alteration region

CDS

DNA changes

c.317A>G
cDNA.396A>G
g.1172A>G

AA changes

Q106R Score: 43 explain score(s)

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

106

frameshift

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

106

mutated

all conserved

106

Ptroglodytes

all conserved

ENSPTRG00000001501

106

Mmulatta

all conserved

ENSMMUG00000016784

106

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

all conserved

ENSGALG00000012494

101

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
87	111	HELIX		lost
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

966 / 966

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

322 / 322

position of stopcodon in wt / mu cDNA

1045 / 1045

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

80 / 80

chromosome

strand

last intron/exon boundary

913

theoretical NMD boundary in CDS

783

length of CDS

966

coding sequence (CDS) position

317

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

396

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered cDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

wildtype AA sequence

MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG
DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIQIVQA SAGQFQLEYP
FEIQILAGCR MNAPQIFLNM AYQGSDFLSF QGISWEPSPG AGIRAQNICK VLNRYLDIKE
ILQSLLGHTC PRFLAGLMEA GESELKRKVK PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV
WVMWMRGGYS IFLILICLTV IVTLVILVVV DSRLKKQSPV FLMGANTQDT KNSRHQFCLA
QVSWIKNRVL KKWKTRLNQL W*

mutated AA sequence

MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG
DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIRIVQA SAGQFQLEYP
FEIQILAGCR MNAPQIFLNM AYQGSDFLSF QGISWEPSPG AGIRAQNICK VLNRYLDIKE
ILQSLLGHTC PRFLAGLMEA GESELKRKVK PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV
WVMWMRGGYS IFLILICLTV IVTLVILVVV DSRLKKQSPV FLMGANTQDT KNSRHQFCLA
QVSWIKNRVL KKWKTRLNQL W*

speed

0.37 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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 CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368156

Genbank transcript ID

NM_001185115

UniProt peptide

P15812

alteration type

single base exchange

alteration region

CDS

DNA changes

c.317A>G
cDNA.317A>G
g.1172A>G

AA changes

Q106R Score: 43 explain score(s)

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

106

frameshift

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

106

mutated

all conserved

106

Ptroglodytes

all conserved

ENSPTRG00000001501

106

Mmulatta

all conserved

ENSMMUG00000016784

106

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

all conserved

ENSGALG00000012494

101

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
87	111	HELIX		lost
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

861 / 861

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

287 / 287

position of stopcodon in wt / mu cDNA

861 / 861

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

1 / 1

chromosome

strand

last intron/exon boundary

729

theoretical NMD boundary in CDS

678

length of CDS

861

coding sequence (CDS) position

317

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

317

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered cDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

wildtype AA sequence

mutated AA sequence

speed

0.35 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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 CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368155

Genbank transcript ID

NM_001185108

UniProt peptide

P15812

alteration type

single base exchange

alteration region

CDS

DNA changes

c.317A>G
cDNA.317A>G
g.1172A>G

AA changes

Q106R Score: 43 explain score(s)

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

106

frameshift

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

106

mutated

all conserved

106

Ptroglodytes

all conserved

ENSPTRG00000001501

106

Mmulatta

all conserved

ENSMMUG00000016784

106

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

all conserved

ENSGALG00000012494

101

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
87	111	HELIX		lost
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

696 / 696

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

232 / 232

position of stopcodon in wt / mu cDNA

696 / 696

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

1 / 1

chromosome

strand

last intron/exon boundary

564

theoretical NMD boundary in CDS

513

length of CDS

696

coding sequence (CDS) position

317

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

317

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered cDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

wildtype AA sequence

MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG
DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIQIVQA SAGQFQLELK
PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV WVMWMRGGYS IFLILICLTV IVTLVILVVV
DSRLKKQSPV FLMGANTQDT KNSRHQFCLA QVSWIKNRVL KKWKTRLNQL W*

mutated AA sequence

MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG
DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIRIVQA SAGQFQLELK
PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV WVMWMRGGYS IFLILICLTV IVTLVILVVV
DSRLKKQSPV FLMGANTQDT KNSRHQFCLA QVSWIKNRVL KKWKTRLNQL W*

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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 CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368160

Genbank transcript ID

NM_001042583

UniProt peptide

P15812

alteration type

single base exchange

alteration region

CDS

DNA changes

c.317A>G
cDNA.317A>G
g.1172A>G

AA changes

Q106R Score: 43 explain score(s)

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

106

frameshift

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

106

mutated

all conserved

106

Ptroglodytes

all conserved

ENSPTRG00000001501

106

Mmulatta

all conserved

ENSMMUG00000016784

106

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

all conserved

ENSGALG00000012494

101

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
87	111	HELIX		lost
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1131 / 1131

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

377 / 377

position of stopcodon in wt / mu cDNA

1131 / 1131

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

1 / 1

chromosome

strand

last intron/exon boundary

999

theoretical NMD boundary in CDS

948

length of CDS

1131

coding sequence (CDS) position

317

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

317

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered cDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

wildtype AA sequence

mutated AA sequence

speed

0.39 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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 CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000434258

Genbank transcript ID

N/A

UniProt peptide

P15812

alteration type

single base exchange

alteration region

CDS

DNA changes

c.311A>G
cDNA.322A>G
g.1172A>G

AA changes

Q104R Score: 43 explain score(s)

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

104

frameshift

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

104

mutated

all conserved

104

Ptroglodytes

all conserved

ENSPTRG00000001501

106

Mmulatta

all conserved

ENSMMUG00000016784

106

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

all conserved

ENSGALG00000012494

101

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
87	111	HELIX		lost
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1023 / 1023

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

341 / 341

position of stopcodon in wt / mu cDNA

1034 / 1034

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

12 / 12

chromosome

strand

last intron/exon boundary

631

theoretical NMD boundary in CDS

569

length of CDS

1023

coding sequence (CDS) position

311

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

322

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered cDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

wildtype AA sequence

MIKSRVKRYR RRRGSQRAPQ ALQSYHLAAE EQLSFRMLQT SSFANHSWAH SEGSGWLGDL
QTHGWDTVLG TIRFLKPWSH GNFSKQELKN LQSLFQLYFH SFIQIVQASA GQFQLEYPFE
IQILAGCRMN APQIFLNMAY QGSDFLSFQG ISWEPSPGAG IRAQNICKVL NRYLDIKEIL
QSLLGHTCPR FLAGLMEAGE SELKRKVKPE AWLSCGPSPG PGRLQLVCHV SGFYPKPVWV
MWMRGEQEQR GTQRGDVLPN ADETWYLRAT LDVAAGEAAG LSCRVKHSSL GGHDLIIHWG
EKQLRLCWEI MKIALGLLSV GLRKWVGMLG TRRVKLGQSK *

mutated AA sequence

MIKSRVKRYR RRRGSQRAPQ ALQSYHLAAE EQLSFRMLQT SSFANHSWAH SEGSGWLGDL
QTHGWDTVLG TIRFLKPWSH GNFSKQELKN LQSLFQLYFH SFIRIVQASA GQFQLEYPFE
IQILAGCRMN APQIFLNMAY QGSDFLSFQG ISWEPSPGAG IRAQNICKVL NRYLDIKEIL
QSLLGHTCPR FLAGLMEAGE SELKRKVKPE AWLSCGPSPG PGRLQLVCHV SGFYPKPVWV
MWMRGEQEQR GTQRGDVLPN ADETWYLRAT LDVAAGEAAG LSCRVKHSSL GGHDLIIHWG
EKQLRLCWEI MKIALGLLSV GLRKWVGMLG TRRVKLGQSK *

speed

0.37 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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 CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368161

Genbank transcript ID

NM_001042584

UniProt peptide

P15812

alteration type

single base exchange

alteration region

CDS

DNA changes

c.317A>G
cDNA.317A>G
g.1172A>G

AA changes

Q106R Score: 43 explain score(s)

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

106

frameshift

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

106

mutated

all conserved

106

Ptroglodytes

all conserved

ENSPTRG00000001501

106

Mmulatta

all conserved

ENSMMUG00000016784

106

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

all conserved

ENSGALG00000012494

101

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
87	111	HELIX		lost
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

873 / 873

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

291 / 291

position of stopcodon in wt / mu cDNA

873 / 873

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

1 / 1

chromosome

strand

last intron/exon boundary

895

theoretical NMD boundary in CDS

844

length of CDS

873

coding sequence (CDS) position

317

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

317

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered cDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

wildtype AA sequence

mutated AA sequence

speed

0.37 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999966748694 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000452291

Genbank transcript ID

NM_001185112

UniProt peptide

P15812

alteration type

single base exchange

alteration region

intron

DNA changes

g.1172A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

589

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
20	31	PROPEP	Removed in sCD1e. /FTId=PRO_0000379780.	might get lost (downstream of altered splice site)
37	46	STRAND		might get lost (downstream of altered splice site)
47	47	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
52	59	STRAND		might get lost (downstream of altered splice site)
62	68	STRAND		might get lost (downstream of altered splice site)
69	72	TURN		might get lost (downstream of altered splice site)
73	75	STRAND		might get lost (downstream of altered splice site)
79	82	HELIX		might get lost (downstream of altered splice site)
84	84	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
87	111	HELIX		might get lost (downstream of altered splice site)
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

146 / 146

chromosome

strand

last intron/exon boundary

577

theoretical NMD boundary in CDS

381

length of CDS

600

coding sequence (CDS) position

N/A

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

N/A

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLLLFLLFEG LCCPGENTAV KPEAWLSCGP SPGPGRLQLV CHVSGFYPKP VWVMWMRGEQ
EQRGTQRGDV LPNADETWYL RATLDVAAGE AAGLSCRVKH SSLGGHDLII HWGGYSIFLI
LICLTVIVTL VILVVVDSRL KKQSSNKNIL SPHTPSPVFL MGANTQDTKN SRHQFCLAQV
SWIKNRVLKK WKTRLNQLW*

mutated AA sequence

N/A

speed

0.66 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999966748694 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368166

Genbank transcript ID

NM_001042586

UniProt peptide

P15812

alteration type

single base exchange

alteration region

intron

DNA changes

g.1172A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

589

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
20	31	PROPEP	Removed in sCD1e. /FTId=PRO_0000379780.	might get lost (downstream of altered splice site)
37	46	STRAND		might get lost (downstream of altered splice site)
47	47	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
52	59	STRAND		might get lost (downstream of altered splice site)
62	68	STRAND		might get lost (downstream of altered splice site)
69	72	TURN		might get lost (downstream of altered splice site)
73	75	STRAND		might get lost (downstream of altered splice site)
79	82	HELIX		might get lost (downstream of altered splice site)
84	84	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
87	111	HELIX		might get lost (downstream of altered splice site)
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

105 / 105

chromosome

strand

last intron/exon boundary

536

theoretical NMD boundary in CDS

381

length of CDS

564

coding sequence (CDS) position

N/A

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

N/A

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLLLFLLFEG LCCPGENTAV KPEAWLSCGP SPGPGRLQLV CHVSGFYPKP VWVMWMRGEQ
EQRGTQRGDV LPNADETWYL RATLDVAAGE AAGLSCRVKH SSLGGHDLII HWGGYSIFLI
LICLTVIVTL VILVVVDSRL KKQSPVFLMG ANTQDTKNSR HQFCLAQVSW IKNRVLKKWK
TRLNQLW*

mutated AA sequence

N/A

speed

0.28 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999966748694 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368164

Genbank transcript ID

NM_001042587

UniProt peptide

P15812

alteration type

single base exchange

alteration region

intron

DNA changes

g.1172A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

589

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
20	31	PROPEP	Removed in sCD1e. /FTId=PRO_0000379780.	might get lost (downstream of altered splice site)
37	46	STRAND		might get lost (downstream of altered splice site)
47	47	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
52	59	STRAND		might get lost (downstream of altered splice site)
62	68	STRAND		might get lost (downstream of altered splice site)
69	72	TURN		might get lost (downstream of altered splice site)
73	75	STRAND		might get lost (downstream of altered splice site)
79	82	HELIX		might get lost (downstream of altered splice site)
84	84	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
87	111	HELIX		might get lost (downstream of altered splice site)
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

74 / 74

chromosome

strand

last intron/exon boundary

401

theoretical NMD boundary in CDS

277

length of CDS

306

coding sequence (CDS) position

N/A

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

N/A

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLLLFLLFEG LCCPGENTAV KPEAWLSCGP SPGPGRLQLV CHVSGFYPKP VWVMWMRGEQ
EQRGTQRGDV LPNADETWWI FHLSHPDLFD CDSYPGHIGC S*

mutated AA sequence

N/A

speed

0.30 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999966748694 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368157

Genbank transcript ID

NM_001185110

UniProt peptide

P15812

alteration type

single base exchange

alteration region

intron

DNA changes

g.1172A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

589

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
20	31	PROPEP	Removed in sCD1e. /FTId=PRO_0000379780.	might get lost (downstream of altered splice site)
37	46	STRAND		might get lost (downstream of altered splice site)
47	47	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
52	59	STRAND		might get lost (downstream of altered splice site)
62	68	STRAND		might get lost (downstream of altered splice site)
69	72	TURN		might get lost (downstream of altered splice site)
73	75	STRAND		might get lost (downstream of altered splice site)
79	82	HELIX		might get lost (downstream of altered splice site)
84	84	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
87	111	HELIX		might get lost (downstream of altered splice site)
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

267

theoretical NMD boundary in CDS

216

length of CDS

399

coding sequence (CDS) position

N/A

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

N/A

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLLLFLLFEG LCCPGENTAV KPEAWLSCGP SPGPGRLQLV CHVSGFYPKP VWVMWMRGGY
SIFLILICLT VIVTLVILVV VDSRLKKQSP VFLMGANTQD TKNSRHQFCL AQVSWIKNRV
LKKWKTRLNQ LW*

mutated AA sequence

N/A

speed

0.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999966748694 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368154

Genbank transcript ID

NM_001185113

UniProt peptide

P15812

alteration type

single base exchange

alteration region

intron

DNA changes

g.1172A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

589

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
20	31	PROPEP	Removed in sCD1e. /FTId=PRO_0000379780.	might get lost (downstream of altered splice site)
37	46	STRAND		might get lost (downstream of altered splice site)
47	47	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
52	59	STRAND		might get lost (downstream of altered splice site)
62	68	STRAND		might get lost (downstream of altered splice site)
69	72	TURN		might get lost (downstream of altered splice site)
73	75	STRAND		might get lost (downstream of altered splice site)
79	82	HELIX		might get lost (downstream of altered splice site)
84	84	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
87	111	HELIX		might get lost (downstream of altered splice site)
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

267

theoretical NMD boundary in CDS

216

length of CDS

435

coding sequence (CDS) position

N/A

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

N/A

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLLLFLLFEG LCCPGENTAV KPEAWLSCGP SPGPGRLQLV CHVSGFYPKP VWVMWMRGGY
SIFLILICLT VIVTLVILVV VDSRLKKQSS NKNILSPHTP SPVFLMGANT QDTKNSRHQF
CLAQVSWIKN RVLKKWKTRL NQLW*

mutated AA sequence

N/A

speed

0.33 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999966748694 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000444681

Genbank transcript ID

NM_001185114

UniProt peptide

P15812

alteration type

single base exchange

alteration region

intron

DNA changes

g.1172A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

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	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

589

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
20	31	PROPEP	Removed in sCD1e. /FTId=PRO_0000379780.	might get lost (downstream of altered splice site)
37	46	STRAND		might get lost (downstream of altered splice site)
47	47	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
52	59	STRAND		might get lost (downstream of altered splice site)
62	68	STRAND		might get lost (downstream of altered splice site)
69	72	TURN		might get lost (downstream of altered splice site)
73	75	STRAND		might get lost (downstream of altered splice site)
79	82	HELIX		might get lost (downstream of altered splice site)
84	84	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
87	111	HELIX		might get lost (downstream of altered splice site)
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

294 / 294

chromosome

strand

last intron/exon boundary

995

theoretical NMD boundary in CDS

651

length of CDS

870

coding sequence (CDS) position

N/A

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

N/A

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

1172

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

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLLLFLLFEG LCCPGENTAD PFEIQILAGC RMNAPQIFLN MAYQGSDFLS FQGISWEPSP
GAGIRAQNIC KVLNRYLDIK EILQSLLGHT CPRFLAGLME AGESELKRKV KPEAWLSCGP
SPGPGRLQLV CHVSGFYPKP VWVMWMRGEQ EQRGTQRGDV LPNADETWYL RATLDVAAGE
AAGLSCRVKH SSLGGHDLII HWGGYSIFLI LICLTVIVTL VILVVVDSRL KKQSSNKNIL
SPHTPSPVFL MGANTQDTKN SRHQFCLAQV SWIKNRVLKK WKTRLNQLW*

mutated AA sequence

N/A

speed

0.60 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

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