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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000227266
Querying Taster for transcript #2: ENST00000524463
Querying Taster for transcript #3: ENST00000529974
MT speed 2.27 s - this script 3.707422 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CTSC	disease_causing_automatic	0.999999999999965	simple_aae		affected	0	W39S	single base exchange	rs104894210		show file
CTSC	disease_causing_automatic	0.999999999999965	simple_aae		affected	0	W39S	single base exchange	rs104894210		show file
CTSC	disease_causing_automatic	0.999999999999965	simple_aae		affected	0	W39S	single base exchange	rs104894210		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999965 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CD076774)
known disease mutation at this position (HGMD CM011309)
known disease mutation: rs7296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:88070725C>GN/A show variant in all transcripts IGV

HGNC symbol

CTSC

Ensembl transcript ID

ENST00000227266

Genbank transcript ID

NM_001814

UniProt peptide

P53634

alteration type

single base exchange

alteration region

CDS

DNA changes

c.116G>C
cDNA.231G>C
g.231G>C

AA changes

W39S Score: 177 explain score(s)

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

frameshift

known variant

Reference ID: rs104894210

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs7296 (pathogenic for Papillon-Lefèvre syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD076774)

known disease mutation at this position, please check HGMD for details (HGMD ID CD076774)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011309)

known disease mutation at this position, please check HGMD for details (HGMD ID CD076774)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011309)
known disease mutation at this position, please check HGMD for details (HGMD ID CD076774)

known disease mutation at this position, please check HGMD for details (HGMD ID CD076774)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011309)
known disease mutation at this position, please check HGMD for details (HGMD ID CD076774)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011309)

regulatory features

Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HDAC1, Transcription Factor, HDAC1 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
MEF2A, Transcription Factor, MEF2A Transcription Factor Binding
MEF2C, Transcription Factor, MEF2C Transcription Factor Binding
Max, Transcription Factor, Max TF binding
POU2F2, Transcription Factor, POU2F2 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
ZEB1, Transcription Factor, ZEB1 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.207	1
	5.207	1
(flanking)	4.306	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	241	wt: 0.76 / mu: 0.86	wt: CTGGGCACCTGGGTCTTCCAGGTGGGCTCCAGCGGTTCCCA mu: CTGGGCACCTCGGTCTTCCAGGTGGGCTCCAGCGGTTCCCA	ccag\|GTGG
Acc marginally increased	224	wt: 0.6017 / mu: 0.6126 (marginal change - not scored)	wt: GCACCTATCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTG mu: GCACCTATCTTGACCTGCTGGGCACCTCGGTCTTCCAGGTG	ctgg\|GCAC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000004152

Mmulatta

all identical

ENSMMUG00000022139

Fcatus

all identical

ENSFCAG00000008445

Mmusculus

all identical

ENSMUSG00000030560

Ggallus

all identical

ENSGALG00000017239

Trubripes

all identical

ENSTRUG00000006734

Drerio

all identical

ENSDARG00000018806

Dmelanogaster

no homologue

Celegans

no alignment

F15D4.4

n/a

Xtropicalis

all identical

ENSXETG00000011748

protein features

start (aa)	end (aa)	feature	details
36	48	STRAND		lost
53	53	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
54	54	DISULFID		might get lost (downstream of altered splice site)
54	56	HELIX		might get lost (downstream of altered splice site)
60	69	STRAND		might get lost (downstream of altered splice site)
63	63	CONFLICT	K -> I (in Ref. 6; BAD96758).	might get lost (downstream of altered splice site)
70	72	TURN		might get lost (downstream of altered splice site)
73	76	STRAND		might get lost (downstream of altered splice site)
81	87	STRAND		might get lost (downstream of altered splice site)
88	90	TURN		might get lost (downstream of altered splice site)
91	96	STRAND		might get lost (downstream of altered splice site)
99	110	STRAND		might get lost (downstream of altered splice site)
113	121	STRAND		might get lost (downstream of altered splice site)
118	118	DISULFID		might get lost (downstream of altered splice site)
119	119	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
123	128	STRAND		might get lost (downstream of altered splice site)
133	141	STRAND		might get lost (downstream of altered splice site)
135	230	PROPEP	/FTId=PRO_0000026339.	might get lost (downstream of altered splice site)
136	136	DISULFID		might get lost (downstream of altered splice site)
237	237	CONFLICT	W -> V (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
255	255	DISULFID		might get lost (downstream of altered splice site)
258	258	ACT_SITE		might get lost (downstream of altered splice site)
258	275	HELIX		might get lost (downstream of altered splice site)
276	276	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
285	291	HELIX		might get lost (downstream of altered splice site)
291	291	DISULFID		might get lost (downstream of altered splice site)
298	298	DISULFID		might get lost (downstream of altered splice site)
302	302	BINDING	Chloride.	might get lost (downstream of altered splice site)
303	306	HELIX		might get lost (downstream of altered splice site)
304	304	BINDING	Chloride; via amide nitrogen.	might get lost (downstream of altered splice site)
309	313	HELIX		might get lost (downstream of altered splice site)
319	321	HELIX		might get lost (downstream of altered splice site)
321	321	DISULFID		might get lost (downstream of altered splice site)
321	321	CONFLICT	C -> S (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
331	331	DISULFID		might get lost (downstream of altered splice site)
337	337	DISULFID		might get lost (downstream of altered splice site)
342	347	STRAND		might get lost (downstream of altered splice site)
347	347	BINDING	Chloride.	might get lost (downstream of altered splice site)
355	355	CONFLICT	C -> M (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
357	367	HELIX		might get lost (downstream of altered splice site)
366	366	CONFLICT	H -> R (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
370	374	STRAND		might get lost (downstream of altered splice site)
376	378	CONFLICT	VYD -> YVY (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
378	382	HELIX		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
405	405	ACT_SITE		might get lost (downstream of altered splice site)
405	414	STRAND		might get lost (downstream of altered splice site)
416	418	TURN		might get lost (downstream of altered splice site)
421	426	STRAND		might get lost (downstream of altered splice site)
427	427	ACT_SITE		might get lost (downstream of altered splice site)
438	442	STRAND		might get lost (downstream of altered splice site)
447	449	HELIX		might get lost (downstream of altered splice site)
455	459	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1392 / 1392

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

464 / 464

position of stopcodon in wt / mu cDNA

1507 / 1507

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

116 / 116

chromosome

strand

-1

last intron/exon boundary

1005

theoretical NMD boundary in CDS

839

length of CDS

1392

coding sequence (CDS) position

116

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

231

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

231

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

88070725

original gDNA sequence snippet

TCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTGGGCTCCA

altered gDNA sequence snippet

TCTTGACCTGCTGGGCACCTCGGTCTTCCAGGTGGGCTCCA

original cDNA sequence snippet

TCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTGGGCTCCA

altered cDNA sequence snippet

TCTTGACCTGCTGGGCACCTCGGTCTTCCAGGTGGGCTCCA

wildtype AA sequence

MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTWV FQVGSSGSQR DVNCSVMGPQ
EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK WFAFFKYKEE GSKVTTYCNE
TMTGWVHDVL GRNWACFTGK KVGTASENVY VNIAHLKNSQ EKYSNRLYKY DHNFVKAINA
IQKSWTATTY MEYETLTLGD MIRRSGGHSR KIPRPKPAPL TAEIQQKILH LPTSWDWRNV
HGINFVSPVR NQASCGSCYS FASMGMLEAR IRILTNNSQT PILSPQEVVS CSQYAQGCEG
GFPYLIAGKY AQDFGLVEEA CFPYTGTDSP CKMKEDCFRY YSSEYHYVGG FYGGCNEALM
KLELVHHGPM AVAFEVYDDF LHYKKGIYHH TGLRDPFNPF ELTNHAVLLV GYGTDSASGM
DYWIVKNSWG TGWGENGYFR IRRGTDECAI ESIAVAATPI PKL*

mutated AA sequence

MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTSV FQVGSSGSQR DVNCSVMGPQ
EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK WFAFFKYKEE GSKVTTYCNE
TMTGWVHDVL GRNWACFTGK KVGTASENVY VNIAHLKNSQ EKYSNRLYKY DHNFVKAINA
IQKSWTATTY MEYETLTLGD MIRRSGGHSR KIPRPKPAPL TAEIQQKILH LPTSWDWRNV
HGINFVSPVR NQASCGSCYS FASMGMLEAR IRILTNNSQT PILSPQEVVS CSQYAQGCEG
GFPYLIAGKY AQDFGLVEEA CFPYTGTDSP CKMKEDCFRY YSSEYHYVGG FYGGCNEALM
KLELVHHGPM AVAFEVYDDF LHYKKGIYHH TGLRDPFNPF ELTNHAVLLV GYGTDSASGM
DYWIVKNSWG TGWGENGYFR IRRGTDECAI ESIAVAATPI PKL*

speed

0.75 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999965 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CD076774)
known disease mutation at this position (HGMD CM011309)
known disease mutation: rs7296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:88070725C>GN/A show variant in all transcripts IGV

HGNC symbol

CTSC

Ensembl transcript ID

ENST00000524463

Genbank transcript ID

NM_148170

UniProt peptide

P53634

alteration type

single base exchange

alteration region

CDS

DNA changes

c.116G>C
cDNA.205G>C
g.231G>C

AA changes

W39S Score: 177 explain score(s)

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

frameshift

known variant

Reference ID: rs104894210

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.207	1
	5.207	1
(flanking)	4.306	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	241	wt: 0.76 / mu: 0.86	wt: CTGGGCACCTGGGTCTTCCAGGTGGGCTCCAGCGGTTCCCA mu: CTGGGCACCTCGGTCTTCCAGGTGGGCTCCAGCGGTTCCCA	ccag\|GTGG
Acc marginally increased	224	wt: 0.6017 / mu: 0.6126 (marginal change - not scored)	wt: GCACCTATCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTG mu: GCACCTATCTTGACCTGCTGGGCACCTCGGTCTTCCAGGTG	ctgg\|GCAC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000004152

Mmulatta

all identical

ENSMMUG00000022139

Fcatus

all identical

ENSFCAG00000008445

Mmusculus

all identical

ENSMUSG00000030560

Ggallus

all identical

ENSGALG00000017239

Trubripes

all identical

ENSTRUG00000006734

Drerio

all identical

ENSDARG00000018806

Dmelanogaster

no homologue

Celegans

no alignment

F15D4.4

n/a

Xtropicalis

all identical

ENSXETG00000011748

protein features

start (aa)	end (aa)	feature	details
36	48	STRAND		lost
53	53	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
54	54	DISULFID		might get lost (downstream of altered splice site)
54	56	HELIX		might get lost (downstream of altered splice site)
60	69	STRAND		might get lost (downstream of altered splice site)
63	63	CONFLICT	K -> I (in Ref. 6; BAD96758).	might get lost (downstream of altered splice site)
70	72	TURN		might get lost (downstream of altered splice site)
73	76	STRAND		might get lost (downstream of altered splice site)
81	87	STRAND		might get lost (downstream of altered splice site)
88	90	TURN		might get lost (downstream of altered splice site)
91	96	STRAND		might get lost (downstream of altered splice site)
99	110	STRAND		might get lost (downstream of altered splice site)
113	121	STRAND		might get lost (downstream of altered splice site)
118	118	DISULFID		might get lost (downstream of altered splice site)
119	119	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
123	128	STRAND		might get lost (downstream of altered splice site)
133	141	STRAND		might get lost (downstream of altered splice site)
135	230	PROPEP	/FTId=PRO_0000026339.	might get lost (downstream of altered splice site)
136	136	DISULFID		might get lost (downstream of altered splice site)
237	237	CONFLICT	W -> V (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
255	255	DISULFID		might get lost (downstream of altered splice site)
258	258	ACT_SITE		might get lost (downstream of altered splice site)
258	275	HELIX		might get lost (downstream of altered splice site)
276	276	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
285	291	HELIX		might get lost (downstream of altered splice site)
291	291	DISULFID		might get lost (downstream of altered splice site)
298	298	DISULFID		might get lost (downstream of altered splice site)
302	302	BINDING	Chloride.	might get lost (downstream of altered splice site)
303	306	HELIX		might get lost (downstream of altered splice site)
304	304	BINDING	Chloride; via amide nitrogen.	might get lost (downstream of altered splice site)
309	313	HELIX		might get lost (downstream of altered splice site)
319	321	HELIX		might get lost (downstream of altered splice site)
321	321	DISULFID		might get lost (downstream of altered splice site)
321	321	CONFLICT	C -> S (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
331	331	DISULFID		might get lost (downstream of altered splice site)
337	337	DISULFID		might get lost (downstream of altered splice site)
342	347	STRAND		might get lost (downstream of altered splice site)
347	347	BINDING	Chloride.	might get lost (downstream of altered splice site)
355	355	CONFLICT	C -> M (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
357	367	HELIX		might get lost (downstream of altered splice site)
366	366	CONFLICT	H -> R (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
370	374	STRAND		might get lost (downstream of altered splice site)
376	378	CONFLICT	VYD -> YVY (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
378	382	HELIX		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
405	405	ACT_SITE		might get lost (downstream of altered splice site)
405	414	STRAND		might get lost (downstream of altered splice site)
416	418	TURN		might get lost (downstream of altered splice site)
421	426	STRAND		might get lost (downstream of altered splice site)
427	427	ACT_SITE		might get lost (downstream of altered splice site)
438	442	STRAND		might get lost (downstream of altered splice site)
447	449	HELIX		might get lost (downstream of altered splice site)
455	459	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

414 / 414

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

138 / 138

position of stopcodon in wt / mu cDNA

503 / 503

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

90 / 90

chromosome

strand

-1

last intron/exon boundary

493

theoretical NMD boundary in CDS

353

length of CDS

414

coding sequence (CDS) position

116

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

205

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

231

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

88070725

original gDNA sequence snippet

TCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTGGGCTCCA

altered gDNA sequence snippet

TCTTGACCTGCTGGGCACCTCGGTCTTCCAGGTGGGCTCCA

original cDNA sequence snippet

TCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTGGGCTCCA

altered cDNA sequence snippet

TCTTGACCTGCTGGGCACCTCGGTCTTCCAGGTGGGCTCCA

wildtype AA sequence

MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTWV FQVGSSGSQR DVNCSVMGPQ
EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK WFAFFKDVTD FISHLFMQLG
TVGIYDLPHL RNKLVIK*

mutated AA sequence

MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTSV FQVGSSGSQR DVNCSVMGPQ
EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK WFAFFKDVTD FISHLFMQLG
TVGIYDLPHL RNKLVIK*

speed

0.77 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999965 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CD076774)
known disease mutation at this position (HGMD CM011309)
known disease mutation: rs7296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:88070725C>GN/A show variant in all transcripts IGV

HGNC symbol

CTSC

Ensembl transcript ID

ENST00000529974

Genbank transcript ID

NM_001114173

UniProt peptide

P53634

alteration type

single base exchange

alteration region

CDS

DNA changes

c.116G>C
cDNA.177G>C
g.231G>C

AA changes

W39S Score: 177 explain score(s)

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

frameshift

known variant

Reference ID: rs104894210

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.207	1
	5.207	1
(flanking)	4.306	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	241	wt: 0.76 / mu: 0.86	wt: CTGGGCACCTGGGTCTTCCAGGTGGGCTCCAGCGGTTCCCA mu: CTGGGCACCTCGGTCTTCCAGGTGGGCTCCAGCGGTTCCCA	ccag\|GTGG
Acc marginally increased	224	wt: 0.6017 / mu: 0.6126 (marginal change - not scored)	wt: GCACCTATCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTG mu: GCACCTATCTTGACCTGCTGGGCACCTCGGTCTTCCAGGTG	ctgg\|GCAC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000004152

Mmulatta

all identical

ENSMMUG00000022139

Fcatus

all identical

ENSFCAG00000008445

Mmusculus

all identical

ENSMUSG00000030560

Ggallus

all identical

ENSGALG00000017239

Trubripes

all identical

ENSTRUG00000006734

Drerio

all identical

ENSDARG00000018806

Dmelanogaster

no homologue

Celegans

no alignment

F15D4.4

n/a

Xtropicalis

all identical

ENSXETG00000011748

protein features

start (aa)	end (aa)	feature	details
36	48	STRAND		lost
53	53	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
54	54	DISULFID		might get lost (downstream of altered splice site)
54	56	HELIX		might get lost (downstream of altered splice site)
60	69	STRAND		might get lost (downstream of altered splice site)
63	63	CONFLICT	K -> I (in Ref. 6; BAD96758).	might get lost (downstream of altered splice site)
70	72	TURN		might get lost (downstream of altered splice site)
73	76	STRAND		might get lost (downstream of altered splice site)
81	87	STRAND		might get lost (downstream of altered splice site)
88	90	TURN		might get lost (downstream of altered splice site)
91	96	STRAND		might get lost (downstream of altered splice site)
99	110	STRAND		might get lost (downstream of altered splice site)
113	121	STRAND		might get lost (downstream of altered splice site)
118	118	DISULFID		might get lost (downstream of altered splice site)
119	119	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
123	128	STRAND		might get lost (downstream of altered splice site)
133	141	STRAND		might get lost (downstream of altered splice site)
135	230	PROPEP	/FTId=PRO_0000026339.	might get lost (downstream of altered splice site)
136	136	DISULFID		might get lost (downstream of altered splice site)
237	237	CONFLICT	W -> V (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
255	255	DISULFID		might get lost (downstream of altered splice site)
258	258	ACT_SITE		might get lost (downstream of altered splice site)
258	275	HELIX		might get lost (downstream of altered splice site)
276	276	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
285	291	HELIX		might get lost (downstream of altered splice site)
291	291	DISULFID		might get lost (downstream of altered splice site)
298	298	DISULFID		might get lost (downstream of altered splice site)
302	302	BINDING	Chloride.	might get lost (downstream of altered splice site)
303	306	HELIX		might get lost (downstream of altered splice site)
304	304	BINDING	Chloride; via amide nitrogen.	might get lost (downstream of altered splice site)
309	313	HELIX		might get lost (downstream of altered splice site)
319	321	HELIX		might get lost (downstream of altered splice site)
321	321	DISULFID		might get lost (downstream of altered splice site)
321	321	CONFLICT	C -> S (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
331	331	DISULFID		might get lost (downstream of altered splice site)
337	337	DISULFID		might get lost (downstream of altered splice site)
342	347	STRAND		might get lost (downstream of altered splice site)
347	347	BINDING	Chloride.	might get lost (downstream of altered splice site)
355	355	CONFLICT	C -> M (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
357	367	HELIX		might get lost (downstream of altered splice site)
366	366	CONFLICT	H -> R (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
370	374	STRAND		might get lost (downstream of altered splice site)
376	378	CONFLICT	VYD -> YVY (in Ref. 14; AA sequence).	might get lost (downstream of altered splice site)
378	382	HELIX		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
405	405	ACT_SITE		might get lost (downstream of altered splice site)
405	414	STRAND		might get lost (downstream of altered splice site)
416	418	TURN		might get lost (downstream of altered splice site)
421	426	STRAND		might get lost (downstream of altered splice site)
427	427	ACT_SITE		might get lost (downstream of altered splice site)
438	442	STRAND		might get lost (downstream of altered splice site)
447	449	HELIX		might get lost (downstream of altered splice site)
455	459	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

426 / 426

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

142 / 142

position of stopcodon in wt / mu cDNA

487 / 487

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

62 / 62

chromosome

strand

-1

last intron/exon boundary

465

theoretical NMD boundary in CDS

353

length of CDS

426

coding sequence (CDS) position

116

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

177

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

231

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

88070725

original gDNA sequence snippet

TCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTGGGCTCCA

altered gDNA sequence snippet

TCTTGACCTGCTGGGCACCTCGGTCTTCCAGGTGGGCTCCA

original cDNA sequence snippet

TCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTGGGCTCCA

altered cDNA sequence snippet

TCTTGACCTGCTGGGCACCTCGGTCTTCCAGGTGGGCTCCA

wildtype AA sequence

MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTWV FQVGSSGSQR DVNCSVMGPQ
EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK WFAFFKDVTD FISHLFMQLG
TVGIYDLPHL RNKLAMNRRW G*

mutated AA sequence

MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTSV FQVGSSGSQR DVNCSVMGPQ
EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK WFAFFKDVTD FISHLFMQLG
TVGIYDLPHL RNKLAMNRRW G*

speed

0.75 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems