MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000375771
Querying Taster for transcript #2: ENST00000375766
Querying Taster for transcript #3: ENST00000441801
Querying Taster for transcript #4: ENST00000332305
Querying Taster for transcript #5: ENST00000400773
MT speed 0 s - this script 4.489694 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FBLIM1	polymorphism_automatic	0.853925347255176	simple_aae		affected		S94F	single base exchange	rs10927851		show file
FBLIM1	polymorphism_automatic	0.853925347255176	simple_aae		affected		S94F	single base exchange	rs10927851		show file
FBLIM1	polymorphism_automatic	0.974952554982145	simple_aae		affected		S191F	single base exchange	rs10927851		show file
FBLIM1	polymorphism_automatic	0.974952554982145	simple_aae		affected		S191F	single base exchange	rs10927851		show file
FBLIM1	polymorphism_automatic	0.974952554982145	simple_aae		affected		S191F	single base exchange	rs10927851		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.146074652744824 (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 CM066072)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:16096934C>TN/A show variant in all transcripts IGV

HGNC symbol

FBLIM1

Ensembl transcript ID

ENST00000332305

Genbank transcript ID

N/A

UniProt peptide

Q8WUP2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.281C>T
cDNA.312C>T
g.13833C>T

AA changes

S94F Score: 155 explain score(s)

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

frameshift

known variant

Reference ID: rs10927851

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1113	991	2104
ExAC	28677	-24587	4090

known disease mutation at this position, please check HGMD for details (HGMD ID CM066072)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.842	1
	3.719	1
(flanking)	0.206	0.998

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	13842	wt: 0.55 / mu: 0.68	wt: CAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCATGA mu: CAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCATGA	gaga\|GCTG
Acc marginally increased	13840	wt: 0.2208 / mu: 0.2454 (marginal change - not scored)	wt: CACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCAT mu: CACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCAT	ccga\|GAGC
Acc marginally increased	13824	wt: 0.9559 / mu: 0.9560 (marginal change - not scored)	wt: CATCTGTGCCTTCTGCCACAAGACCGTGTCCCCCCGAGAGC mu: CATCTGTGCCTTCTGCCACAAGACCGTGTTCCCCCGAGAGC	acaa\|GACC

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

no homologue

Mmulatta

all identical

ENSMMUG00000032243

192

Fcatus

all identical

ENSFCAG00000011590

180

Mmusculus

all identical

ENSMUSG00000006219

193

Ggallus

not conserved

ENSGALG00000003636

157

GSSLPCSLPT

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

all conserved

F42G4.3

419

Xtropicalis

not conserved

ENSXETG00000031940

150

protein features

start (aa)	end (aa)	feature	details
42	173	COMPBIAS	Pro-rich.	lost
181	242	DOMAIN	LIM zinc-binding 1.	might get lost (downstream of altered splice site)
243	300	DOMAIN	LIM zinc-binding 2.	might get lost (downstream of altered splice site)
276	373	REGION	PLEKHC1-binding.	might get lost (downstream of altered splice site)
301	370	DOMAIN	LIM zinc-binding 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

831 / 831

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

277 / 277

position of stopcodon in wt / mu cDNA

862 / 862

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

32 / 32

chromosome

strand

last intron/exon boundary

749

theoretical NMD boundary in CDS

667

length of CDS

831

coding sequence (CDS) position

281

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

312

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

13833

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

16096934

original gDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered gDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

original cDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered cDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

wildtype AA sequence

MASKPEKRVA SSVFITLAPP RRDVAVAEEV RQAVCEARRG RPWEAPAPMK TPEAGLAGRP
SPWTTPGRAA ATVPAAPMQL FNGDICAFCH KTVSPRELAV EAMKRQYHAQ CFTCRTCRRQ
LAGQSFYQKD GRPLCEPCYQ DTLERCGKCG EVVRDHIIRA LGQAFHPSCF TCVTCARCIG
DESFALGSQN EVYCLDDFYR KFAPVCSICE NPIIPRDGKD AFKIECMGRN FHENCYRCED
CRILLSVEPT DQGCYPLNNH LFCKPCHVKR SAAGCC*

mutated AA sequence

MASKPEKRVA SSVFITLAPP RRDVAVAEEV RQAVCEARRG RPWEAPAPMK TPEAGLAGRP
SPWTTPGRAA ATVPAAPMQL FNGDICAFCH KTVFPRELAV EAMKRQYHAQ CFTCRTCRRQ
LAGQSFYQKD GRPLCEPCYQ DTLERCGKCG EVVRDHIIRA LGQAFHPSCF TCVTCARCIG
DESFALGSQN EVYCLDDFYR KFAPVCSICE NPIIPRDGKD AFKIECMGRN FHENCYRCED
CRILLSVEPT DQGCYPLNNH LFCKPCHVKR SAAGCC*

speed

0.76 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: 0.146074652744824 (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 CM066072)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:16096934C>TN/A show variant in all transcripts IGV

HGNC symbol

FBLIM1

Ensembl transcript ID

ENST00000400773

Genbank transcript ID

NM_001024216

UniProt peptide

Q8WUP2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.281C>T
cDNA.580C>T
g.13833C>T

AA changes

S94F Score: 155 explain score(s)

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

frameshift

known variant

Reference ID: rs10927851

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1113	991	2104
ExAC	28677	-24587	4090

known disease mutation at this position, please check HGMD for details (HGMD ID CM066072)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.842	1
	3.719	1
(flanking)	0.206	0.998

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	13842	wt: 0.55 / mu: 0.68	wt: CAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCATGA mu: CAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCATGA	gaga\|GCTG
Acc marginally increased	13840	wt: 0.2208 / mu: 0.2454 (marginal change - not scored)	wt: CACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCAT mu: CACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCAT	ccga\|GAGC
Acc marginally increased	13824	wt: 0.9559 / mu: 0.9560 (marginal change - not scored)	wt: CATCTGTGCCTTCTGCCACAAGACCGTGTCCCCCCGAGAGC mu: CATCTGTGCCTTCTGCCACAAGACCGTGTTCCCCCGAGAGC	acaa\|GACC

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

no homologue

Mmulatta

all identical

ENSMMUG00000032243

192

Fcatus

all identical

ENSFCAG00000011590

180

Mmusculus

all identical

ENSMUSG00000006219

193

Ggallus

not conserved

ENSGALG00000003636

157

GSSLPCSLPT

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

all conserved

F42G4.3

419

Xtropicalis

not conserved

ENSXETG00000031940

150

protein features

start (aa)	end (aa)	feature	details
42	173	COMPBIAS	Pro-rich.	lost
181	242	DOMAIN	LIM zinc-binding 1.	might get lost (downstream of altered splice site)
243	300	DOMAIN	LIM zinc-binding 2.	might get lost (downstream of altered splice site)
276	373	REGION	PLEKHC1-binding.	might get lost (downstream of altered splice site)
301	370	DOMAIN	LIM zinc-binding 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

831 / 831

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

277 / 277

position of stopcodon in wt / mu cDNA

1130 / 1130

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

300 / 300

chromosome

strand

last intron/exon boundary

1017

theoretical NMD boundary in CDS

667

length of CDS

831

coding sequence (CDS) position

281

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

580

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

13833

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

16096934

original gDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered gDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

original cDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered cDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

wildtype AA sequence

mutated AA sequence

speed

0.68 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0250474450178547 (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 CM066072)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:16096934C>TN/A show variant in all transcripts IGV

HGNC symbol

FBLIM1

Ensembl transcript ID

ENST00000375771

Genbank transcript ID

N/A

UniProt peptide

Q8WUP2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.572C>T
cDNA.1015C>T
g.13833C>T

AA changes

S191F Score: 155 explain score(s)

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

191

frameshift

known variant

Reference ID: rs10927851

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1113	991	2104
ExAC	28677	-24587	4090

known disease mutation at this position, please check HGMD for details (HGMD ID CM066072)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.842	1
	3.719	1
(flanking)	0.206	0.998

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	13842	wt: 0.55 / mu: 0.68	wt: CAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCATGA mu: CAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCATGA	gaga\|GCTG
Acc marginally increased	13840	wt: 0.2208 / mu: 0.2454 (marginal change - not scored)	wt: CACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCAT mu: CACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCAT	ccga\|GAGC
Acc marginally increased	13824	wt: 0.9559 / mu: 0.9560 (marginal change - not scored)	wt: CATCTGTGCCTTCTGCCACAAGACCGTGTCCCCCCGAGAGC mu: CATCTGTGCCTTCTGCCACAAGACCGTGTTCCCCCGAGAGC	acaa\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

191

mutated

not conserved

191

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000032243

193

Fcatus

all identical

ENSFCAG00000011590

189

Mmusculus

all identical

ENSMUSG00000006219

192

Ggallus

not conserved

ENSGALG00000003636

173

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

all conserved

F42G4.3

419

Xtropicalis

not conserved

ENSXETG00000031940

129

TSHHAPLTN

protein features

start (aa)	end (aa)	feature	details
181	242	DOMAIN	LIM zinc-binding 1.	lost
243	300	DOMAIN	LIM zinc-binding 2.	might get lost (downstream of altered splice site)
276	373	REGION	PLEKHC1-binding.	might get lost (downstream of altered splice site)
301	370	DOMAIN	LIM zinc-binding 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1122 / 1122

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

374 / 374

position of stopcodon in wt / mu cDNA

1565 / 1565

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

444 / 444

chromosome

strand

last intron/exon boundary

1452

theoretical NMD boundary in CDS

958

length of CDS

1122

coding sequence (CDS) position

572

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

1015

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

13833

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

16096934

original gDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered gDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

original cDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered cDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

wildtype AA sequence

MASKPEKRVA SSVFITLAPP RRDVAVAEEV RQAVCEARRG RPWEAPAPMK TPEAGLAGRP
SPWTTPGRAA ATVPAAPMQL FNGGCPPPPP VLDGEDVLPD LDLLPPPPPP PPVLLPSEEE
APAPMGASLI ADLEQLHLSP PPPPPQAPAE GPSVQPGPLR PMEEELPPPP AEPVEKGAST
DICAFCHKTV SPRELAVEAM KRQYHAQCFT CRTCRRQLAG QSFYQKDGRP LCEPCYQDTL
ERCGKCGEVV RDHIIRALGQ AFHPSCFTCV TCARCIGDES FALGSQNEVY CLDDFYRKFA
PVCSICENPI IPRDGKDAFK IECMGRNFHE NCYRCEDCRI LLSVEPTDQG CYPLNNHLFC
KPCHVKRSAA GCC*

mutated AA sequence

MASKPEKRVA SSVFITLAPP RRDVAVAEEV RQAVCEARRG RPWEAPAPMK TPEAGLAGRP
SPWTTPGRAA ATVPAAPMQL FNGGCPPPPP VLDGEDVLPD LDLLPPPPPP PPVLLPSEEE
APAPMGASLI ADLEQLHLSP PPPPPQAPAE GPSVQPGPLR PMEEELPPPP AEPVEKGAST
DICAFCHKTV FPRELAVEAM KRQYHAQCFT CRTCRRQLAG QSFYQKDGRP LCEPCYQDTL
ERCGKCGEVV RDHIIRALGQ AFHPSCFTCV TCARCIGDES FALGSQNEVY CLDDFYRKFA
PVCSICENPI IPRDGKDAFK IECMGRNFHE NCYRCEDCRI LLSVEPTDQG CYPLNNHLFC
KPCHVKRSAA GCC*

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0250474450178547 (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 CM066072)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:16096934C>TN/A show variant in all transcripts IGV

HGNC symbol

FBLIM1

Ensembl transcript ID

ENST00000375766

Genbank transcript ID

NM_017556

UniProt peptide

Q8WUP2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.572C>T
cDNA.1212C>T
g.13833C>T

AA changes

S191F Score: 155 explain score(s)

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

191

frameshift

known variant

Reference ID: rs10927851

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1113	991	2104
ExAC	28677	-24587	4090

known disease mutation at this position, please check HGMD for details (HGMD ID CM066072)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.842	1
	3.719	1
(flanking)	0.206	0.998

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	13842	wt: 0.55 / mu: 0.68	wt: CAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCATGA mu: CAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCATGA	gaga\|GCTG
Acc marginally increased	13840	wt: 0.2208 / mu: 0.2454 (marginal change - not scored)	wt: CACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCAT mu: CACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCAT	ccga\|GAGC
Acc marginally increased	13824	wt: 0.9559 / mu: 0.9560 (marginal change - not scored)	wt: CATCTGTGCCTTCTGCCACAAGACCGTGTCCCCCCGAGAGC mu: CATCTGTGCCTTCTGCCACAAGACCGTGTTCCCCCGAGAGC	acaa\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

191

mutated

not conserved

191

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000032243

193

Fcatus

all identical

ENSFCAG00000011590

189

Mmusculus

all identical

ENSMUSG00000006219

192

Ggallus

not conserved

ENSGALG00000003636

173

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

all conserved

F42G4.3

419

Xtropicalis

not conserved

ENSXETG00000031940

129

TSHHAPLTN

protein features

start (aa)	end (aa)	feature	details
181	242	DOMAIN	LIM zinc-binding 1.	lost
243	300	DOMAIN	LIM zinc-binding 2.	might get lost (downstream of altered splice site)
276	373	REGION	PLEKHC1-binding.	might get lost (downstream of altered splice site)
301	370	DOMAIN	LIM zinc-binding 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1122 / 1122

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

374 / 374

position of stopcodon in wt / mu cDNA

1762 / 1762

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

641 / 641

chromosome

strand

last intron/exon boundary

1649

theoretical NMD boundary in CDS

958

length of CDS

1122

coding sequence (CDS) position

572

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

1212

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

13833

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

16096934

original gDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered gDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

original cDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered cDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

wildtype AA sequence

mutated AA sequence

MASKPEKRVA SSVFITLAPP RRDVAVAEEV RQAVCEARRG RPWEAPAPMK TPEAGLAGRP
SPWTTPGRAA ATVPAAPMQL FNGGCPPPPP VLDGEDVLPD LDLLPPPPPP PPVLLPSEEE
APAPMGASLI ADLEQLHLSP PPPPPQAPAE GPSVQPGPLR PMEEELPPPP AEPVEKGAST
DICAFCHKTV FPRELAVEAM KRQYHAQCFT CRTCRRQLAG QSFYQKDGRP LCEPCYQDTL
ERCGKCGEVV RDHIIRALGQ AFHPSCFTCV TCARCIGDES FALGSQNEVY CLDDFYRKFA
PVCSICENPI IPRDGKDAFK IECMGRNFHE NCYRCEDCRI LLSVEPTDQG CYPLNNHLFC
KPCHVKRSAA GCC*

speed

0.82 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0250474450178547 (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 CM066072)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:16096934C>TN/A show variant in all transcripts IGV

HGNC symbol

FBLIM1

Ensembl transcript ID

ENST00000441801

Genbank transcript ID

NM_001024215

UniProt peptide

Q8WUP2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.572C>T
cDNA.779C>T
g.13833C>T

AA changes

S191F Score: 155 explain score(s)

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

191

frameshift

known variant

Reference ID: rs10927851

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1113	991	2104
ExAC	28677	-24587	4090

known disease mutation at this position, please check HGMD for details (HGMD ID CM066072)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.842	1
	3.719	1
(flanking)	0.206	0.998

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	13842	wt: 0.55 / mu: 0.68	wt: CAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCATGA mu: CAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCATGA	gaga\|GCTG
Acc marginally increased	13840	wt: 0.2208 / mu: 0.2454 (marginal change - not scored)	wt: CACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCAT mu: CACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCAT	ccga\|GAGC
Acc marginally increased	13824	wt: 0.9559 / mu: 0.9560 (marginal change - not scored)	wt: CATCTGTGCCTTCTGCCACAAGACCGTGTCCCCCCGAGAGC mu: CATCTGTGCCTTCTGCCACAAGACCGTGTTCCCCCGAGAGC	acaa\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

191

mutated

not conserved

191

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000032243

193

Fcatus

all identical

ENSFCAG00000011590

189

Mmusculus

all identical

ENSMUSG00000006219

192

Ggallus

not conserved

ENSGALG00000003636

173

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

all conserved

F42G4.3

419

Xtropicalis

not conserved

ENSXETG00000031940

129

TSHHAPLTN

protein features

start (aa)	end (aa)	feature	details
181	242	DOMAIN	LIM zinc-binding 1.	lost
243	300	DOMAIN	LIM zinc-binding 2.	might get lost (downstream of altered splice site)
276	373	REGION	PLEKHC1-binding.	might get lost (downstream of altered splice site)
301	370	DOMAIN	LIM zinc-binding 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1125 / 1125

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

375 / 375

position of stopcodon in wt / mu cDNA

1332 / 1332

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

208 / 208

chromosome

strand

last intron/exon boundary

919

theoretical NMD boundary in CDS

661

length of CDS

1125

coding sequence (CDS) position

572

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

779

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

13833

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

16096934

original gDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered gDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

original cDNA sequence snippet

CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG

altered cDNA sequence snippet

CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG

wildtype AA sequence

MASKPEKRVA SSVFITLAPP RRDVAVAEEV RQAVCEARRG RPWEAPAPMK TPEAGLAGRP
SPWTTPGRAA ATVPAAPMQL FNGGCPPPPP VLDGEDVLPD LDLLPPPPPP PPVLLPSEEE
APAPMGASLI ADLEQLHLSP PPPPPQAPAE GPSVQPGPLR PMEEELPPPP AEPVEKGAST
DICAFCHKTV SPRELAVEAM KRQYHAQCFT CRTCRRQLAG QSFYQKDGRP LCEPCYQDTL
ERCGKCGEVV RDHIIRALGQ AFHPSCFTCV TCARCIGDES FALGSQNEVY CLDDFYRYEK
GLCTGWGAGT GRDPSRVKEL SLSPGCWARV SCLLVYYKEY YRAGLGAVAH ACNPSTLGGR
GGWITRSGDR DHPG*

mutated AA sequence

MASKPEKRVA SSVFITLAPP RRDVAVAEEV RQAVCEARRG RPWEAPAPMK TPEAGLAGRP
SPWTTPGRAA ATVPAAPMQL FNGGCPPPPP VLDGEDVLPD LDLLPPPPPP PPVLLPSEEE
APAPMGASLI ADLEQLHLSP PPPPPQAPAE GPSVQPGPLR PMEEELPPPP AEPVEKGAST
DICAFCHKTV FPRELAVEAM KRQYHAQCFT CRTCRRQLAG QSFYQKDGRP LCEPCYQDTL
ERCGKCGEVV RDHIIRALGQ AFHPSCFTCV TCARCIGDES FALGSQNEVY CLDDFYRYEK
GLCTGWGAGT GRDPSRVKEL SLSPGCWARV SCLLVYYKEY YRAGLGAVAH ACNPSTLGGR
GGWITRSGDR DHPG*

speed

0.90 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

Problems