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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000348749
Querying Taster for transcript #2: ENST00000261007
Querying Taster for transcript #3: ENST00000409542
Querying Taster for transcript #4: ENST00000409219
MT speed 0 s - this script 4.766582 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CHRNA1	disease_causing_automatic	0.999999680860487	simple_aae		affected	0	S314I	single base exchange	rs137852802		show file
CHRNA1	disease_causing_automatic	0.999999749171539	simple_aae		affected	0	S207I	single base exchange	rs137852802		show file
CHRNA1	disease_causing_automatic	0.999999857541348	simple_aae		affected	0	S289I	single base exchange	rs137852802		show file
CHRNA1	disease_causing_automatic	0.999999857541348	simple_aae		affected	0	S289I	single base exchange	rs137852802		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999680860487 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970305)
known disease mutation: rs18380 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:175614810C>AN/A show variant in all transcripts IGV

HGNC symbol

CHRNA1

Ensembl transcript ID

ENST00000261007

Genbank transcript ID

NM_001039523

UniProt peptide

P02708

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941G>T
cDNA.1008G>T
g.14391G>T

AA changes

S314I Score: 142 explain score(s)

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

314

frameshift

known variant

Reference ID: rs137852802
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18380 (pathogenic for Congenital myasthenic syndrome 1A) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970305)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970305)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970305)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.329	0.821
	4.248	1
(flanking)	2.409	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	14387	wt: 0.3593 / mu: 0.3993 (marginal change - not scored)	wt: TGGAGCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATT mu: TGGAGCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATT	acgt\|CCAG
Acc marginally increased	14392	wt: 0.2413 / mu: 0.2638 (marginal change - not scored)	wt: CTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAA mu: CTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAA	cagt\|GCTG
Acc increased	14397	wt: 0.33 / mu: 0.69	wt: CCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAAATACA mu: CCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAATACA	ctgt\|GCCC
Acc gained	14389	0.34	mu: GAGCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGG	gtcc\|ATTG
Acc gained	14393	0.80	mu: TGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAA	attg\|CTGT
Acc gained	14396	0.51	mu: TCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAATAC	gctg\|TGCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

all identical

ENSPTRG00000012658

314

Mmulatta

all identical

ENSMMUG00000021796

313

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000027107

289

Ggallus

all identical

ENSGALG00000009301

299

Trubripes

all identical

ENSTRUG00000008738

310

Drerio

all identical

ENSDARG00000009021

289

Dmelanogaster

no homologue

Celegans

all conserved

K11G12.2

323

Xtropicalis

all identical

ENSXETG00000025418

289

protein features

start (aa)	end (aa)	feature	details
322	341	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
342	453	TOPO_DOM	Cytoplasmic.	might get lost (downstream of altered splice site)
415	415	CONFLICT	P -> F (in Ref. 4; AAD14247).	might get lost (downstream of altered splice site)
454	472	TRANSMEM	Helical.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1449 / 1449

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

483 / 483

position of stopcodon in wt / mu cDNA

1516 / 1516

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

68 / 68

chromosome

strand

-1

last intron/exon boundary

1385

theoretical NMD boundary in CDS

1267

length of CDS

1449

coding sequence (CDS) position

941

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

1008

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

14391

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

175614810

original gDNA sequence snippet

GCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAA

altered gDNA sequence snippet

GCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAA

original cDNA sequence snippet

GCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAA

altered cDNA sequence snippet

GCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAA

wildtype AA sequence

MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL
INVDEVNQIV TTNVRLKQGD MVDLPRPSCV TLGVPLFSHL QNEQWVDYNL KWNPDDYGGV
KKIHIPSEKI WRPDLVLYNN ADGDFAIVKF TKVLLQYTGH ITWTPPAIFK SYCEIIVTHF
PFDEQNCSMK LGTWTYDGSV VAINPESDQP DLSNFMESGE WVIKESRGWK HSVTYSCCPD
TPYLDITYHF VMQRLPLYFI VNVIIPCLLF SFLTGLVFYL PTDSGEKMTL SISVLLSLTV
FLLVIVELIP STSSAVPLIG KYMLFTMVFV IASIIITVIV INTHHRSPST HVMPNWVRKV
FIDTIPNIMF FSTMKRPSRE KQDKKIFTED IDISDISGKP GPPPMGFHSP LIKHPEVKSA
IEGIKYIAET MKSDQESNNA AAEWKYVAMV MDHILLGVFM LVCIIGTLAV FAGRLIELNQ
QG*

mutated AA sequence

MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL
INVDEVNQIV TTNVRLKQGD MVDLPRPSCV TLGVPLFSHL QNEQWVDYNL KWNPDDYGGV
KKIHIPSEKI WRPDLVLYNN ADGDFAIVKF TKVLLQYTGH ITWTPPAIFK SYCEIIVTHF
PFDEQNCSMK LGTWTYDGSV VAINPESDQP DLSNFMESGE WVIKESRGWK HSVTYSCCPD
TPYLDITYHF VMQRLPLYFI VNVIIPCLLF SFLTGLVFYL PTDSGEKMTL SISVLLSLTV
FLLVIVELIP STSIAVPLIG KYMLFTMVFV IASIIITVIV INTHHRSPST HVMPNWVRKV
FIDTIPNIMF FSTMKRPSRE KQDKKIFTED IDISDISGKP GPPPMGFHSP LIKHPEVKSA
IEGIKYIAET MKSDQESNNA AAEWKYVAMV MDHILLGVFM LVCIIGTLAV FAGRLIELNQ
QG*

speed

0.89 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: 0.999999749171539 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970305)
known disease mutation: rs18380 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:175614810C>AN/A show variant in all transcripts IGV

HGNC symbol

CHRNA1

Ensembl transcript ID

ENST00000409542

Genbank transcript ID

N/A

UniProt peptide

P02708

alteration type

single base exchange

alteration region

CDS

DNA changes

c.620G>T
cDNA.638G>T
g.14391G>T

AA changes

S207I Score: 142 explain score(s)

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

207

frameshift

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.329	0.821
	4.248	1
(flanking)	2.409	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	14387	wt: 0.3593 / mu: 0.3993 (marginal change - not scored)	wt: TGGAGCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATT mu: TGGAGCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATT	acgt\|CCAG
Acc marginally increased	14392	wt: 0.2413 / mu: 0.2638 (marginal change - not scored)	wt: CTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAA mu: CTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAA	cagt\|GCTG
Acc increased	14397	wt: 0.33 / mu: 0.69	wt: CCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAAATACA mu: CCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAATACA	ctgt\|GCCC
Acc gained	14389	0.34	mu: GAGCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGG	gtcc\|ATTG
Acc gained	14393	0.80	mu: TGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAA	attg\|CTGT
Acc gained	14396	0.51	mu: TCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAATAC	gctg\|TGCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

207

mutated

not conserved

207

Ptroglodytes

all identical

ENSPTRG00000012658

314

Mmulatta

all identical

ENSMMUG00000021796

313

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000027107

289

Ggallus

all identical

ENSGALG00000009301

299

Trubripes

all identical

ENSTRUG00000008738

310

Drerio

all identical

ENSDARG00000009021

289

Dmelanogaster

no homologue

Celegans

all conserved

K11G12.2

323

Xtropicalis

all identical

ENSXETG00000025418

289

protein features

start (aa)	end (aa)	feature	details
21	255	TOPO_DOM	Extracellular.	lost
237	237	DISULFID	Associated with receptor activation.	might get lost (downstream of altered splice site)
238	238	DISULFID	Associated with receptor activation.	might get lost (downstream of altered splice site)
256	280	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
288	306	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
322	341	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
342	453	TOPO_DOM	Cytoplasmic.	might get lost (downstream of altered splice site)
415	415	CONFLICT	P -> F (in Ref. 4; AAD14247).	might get lost (downstream of altered splice site)
454	472	TRANSMEM	Helical.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1128 / 1128

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

376 / 376

position of stopcodon in wt / mu cDNA

1146 / 1146

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

19 / 19

chromosome

strand

-1

last intron/exon boundary

1015

theoretical NMD boundary in CDS

946

length of CDS

1128

coding sequence (CDS) position

620

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

638

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

14391

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

175614810

original gDNA sequence snippet

GCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAA

altered gDNA sequence snippet

GCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAA

original cDNA sequence snippet

GCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAA

altered cDNA sequence snippet

GCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAA

wildtype AA sequence

MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL
INVDEVNQIV TTNVRLKQNC SMKLGTWTYD GSVVAINPES DQPDLSNFME SGEWVIKESR
GWKHSVTYSC CPDTPYLDIT YHFVMQRLPL YFIVNVIIPC LLFSFLTGLV FYLPTDSGEK
MTLSISVLLS LTVFLLVIVE LIPSTSSAVP LIGKYMLFTM VFVIASIIIT VIVINTHHRS
PSTHVMPNWV RKVFIDTIPN IMFFSTMKRP SREKQDKKIF TEDIDISDIS GKPGPPPMGF
HSPLIKHPEV KSAIEGIKYI AETMKSDQES NNAAAEWKYV AMVMDHILLG VFMLVCIIGT
LAVFAGRLIE LNQQG*

mutated AA sequence

MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL
INVDEVNQIV TTNVRLKQNC SMKLGTWTYD GSVVAINPES DQPDLSNFME SGEWVIKESR
GWKHSVTYSC CPDTPYLDIT YHFVMQRLPL YFIVNVIIPC LLFSFLTGLV FYLPTDSGEK
MTLSISVLLS LTVFLLVIVE LIPSTSIAVP LIGKYMLFTM VFVIASIIIT VIVINTHHRS
PSTHVMPNWV RKVFIDTIPN IMFFSTMKRP SREKQDKKIF TEDIDISDIS GKPGPPPMGF
HSPLIKHPEV KSAIEGIKYI AETMKSDQES NNAAAEWKYV AMVMDHILLG VFMLVCIIGT
LAVFAGRLIE LNQQG*

speed

0.90 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999857541348 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970305)
known disease mutation: rs18380 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:175614810C>AN/A show variant in all transcripts IGV

HGNC symbol

CHRNA1

Ensembl transcript ID

ENST00000348749

Genbank transcript ID

NM_000079

UniProt peptide

P02708

alteration type

single base exchange

alteration region

CDS

DNA changes

c.866G>T
cDNA.944G>T
g.14391G>T

AA changes

S289I Score: 142 explain score(s)

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

289

frameshift

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.329	0.821
	4.248	1
(flanking)	2.409	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	14387	wt: 0.3593 / mu: 0.3993 (marginal change - not scored)	wt: TGGAGCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATT mu: TGGAGCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATT	acgt\|CCAG
Acc marginally increased	14392	wt: 0.2413 / mu: 0.2638 (marginal change - not scored)	wt: CTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAA mu: CTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAA	cagt\|GCTG
Acc increased	14397	wt: 0.33 / mu: 0.69	wt: CCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAAATACA mu: CCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAATACA	ctgt\|GCCC
Acc gained	14389	0.34	mu: GAGCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGG	gtcc\|ATTG
Acc gained	14393	0.80	mu: TGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAA	attg\|CTGT
Acc gained	14396	0.51	mu: TCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAATAC	gctg\|TGCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

289

mutated

not conserved

289

Ptroglodytes

all identical

ENSPTRG00000012658

314

Mmulatta

all identical

ENSMMUG00000021796

313

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000027107

289

Ggallus

all identical

ENSGALG00000009301

299

Trubripes

all identical

ENSTRUG00000008738

310

Drerio

all identical

ENSDARG00000009021

289

Dmelanogaster

no homologue

Celegans

all conserved

K11G12.2

323

Xtropicalis

all identical

ENSXETG00000025418

289

protein features

start (aa)	end (aa)	feature	details
288	306	TRANSMEM	Helical.	lost
322	341	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
342	453	TOPO_DOM	Cytoplasmic.	might get lost (downstream of altered splice site)
415	415	CONFLICT	P -> F (in Ref. 4; AAD14247).	might get lost (downstream of altered splice site)
454	472	TRANSMEM	Helical.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1374 / 1374

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

458 / 458

position of stopcodon in wt / mu cDNA

1452 / 1452

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

79 / 79

chromosome

strand

-1

last intron/exon boundary

1321

theoretical NMD boundary in CDS

1192

length of CDS

1374

coding sequence (CDS) position

866

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

944

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

14391

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

175614810

original gDNA sequence snippet

GCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAA

altered gDNA sequence snippet

GCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAA

original cDNA sequence snippet

GCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAA

altered cDNA sequence snippet

GCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAA

wildtype AA sequence

MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL
INVDEVNQIV TTNVRLKQQW VDYNLKWNPD DYGGVKKIHI PSEKIWRPDL VLYNNADGDF
AIVKFTKVLL QYTGHITWTP PAIFKSYCEI IVTHFPFDEQ NCSMKLGTWT YDGSVVAINP
ESDQPDLSNF MESGEWVIKE SRGWKHSVTY SCCPDTPYLD ITYHFVMQRL PLYFIVNVII
PCLLFSFLTG LVFYLPTDSG EKMTLSISVL LSLTVFLLVI VELIPSTSSA VPLIGKYMLF
TMVFVIASII ITVIVINTHH RSPSTHVMPN WVRKVFIDTI PNIMFFSTMK RPSREKQDKK
IFTEDIDISD ISGKPGPPPM GFHSPLIKHP EVKSAIEGIK YIAETMKSDQ ESNNAAAEWK
YVAMVMDHIL LGVFMLVCII GTLAVFAGRL IELNQQG*

mutated AA sequence

MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL
INVDEVNQIV TTNVRLKQQW VDYNLKWNPD DYGGVKKIHI PSEKIWRPDL VLYNNADGDF
AIVKFTKVLL QYTGHITWTP PAIFKSYCEI IVTHFPFDEQ NCSMKLGTWT YDGSVVAINP
ESDQPDLSNF MESGEWVIKE SRGWKHSVTY SCCPDTPYLD ITYHFVMQRL PLYFIVNVII
PCLLFSFLTG LVFYLPTDSG EKMTLSISVL LSLTVFLLVI VELIPSTSIA VPLIGKYMLF
TMVFVIASII ITVIVINTHH RSPSTHVMPN WVRKVFIDTI PNIMFFSTMK RPSREKQDKK
IFTEDIDISD ISGKPGPPPM GFHSPLIKHP EVKSAIEGIK YIAETMKSDQ ESNNAAAEWK
YVAMVMDHIL LGVFMLVCII GTLAVFAGRL IELNQQG*

speed

0.80 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999857541348 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970305)
known disease mutation: rs18380 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:175614810C>AN/A show variant in all transcripts IGV

HGNC symbol

CHRNA1

Ensembl transcript ID

ENST00000409219

Genbank transcript ID

N/A

UniProt peptide

P02708

alteration type

single base exchange

alteration region

CDS

DNA changes

c.866G>T
cDNA.884G>T
g.14391G>T

AA changes

S289I Score: 142 explain score(s)

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

289

frameshift

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.329	0.821
	4.248	1
(flanking)	2.409	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	14387	wt: 0.3593 / mu: 0.3993 (marginal change - not scored)	wt: TGGAGCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATT mu: TGGAGCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATT	acgt\|CCAG
Acc marginally increased	14392	wt: 0.2413 / mu: 0.2638 (marginal change - not scored)	wt: CTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAA mu: CTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAA	cagt\|GCTG
Acc increased	14397	wt: 0.33 / mu: 0.69	wt: CCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAAATACA mu: CCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAATACA	ctgt\|GCCC
Acc gained	14389	0.34	mu: GAGCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGG	gtcc\|ATTG
Acc gained	14393	0.80	mu: TGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAA	attg\|CTGT
Acc gained	14396	0.51	mu: TCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAAAATAC	gctg\|TGCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

289

mutated

not conserved

289

Ptroglodytes

all identical

ENSPTRG00000012658

314

Mmulatta

all identical

ENSMMUG00000021796

313

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000027107

289

Ggallus

all identical

ENSGALG00000009301

299

Trubripes

all identical

ENSTRUG00000008738

310

Drerio

all identical

ENSDARG00000009021

289

Dmelanogaster

no homologue

Celegans

all conserved

K11G12.2

323

Xtropicalis

all identical

ENSXETG00000025418

289

protein features

start (aa)	end (aa)	feature	details
288	306	TRANSMEM	Helical.	lost
322	341	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
342	453	TOPO_DOM	Cytoplasmic.	might get lost (downstream of altered splice site)
415	415	CONFLICT	P -> F (in Ref. 4; AAD14247).	might get lost (downstream of altered splice site)
454	472	TRANSMEM	Helical.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1134 / 1134

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

378 / 378

position of stopcodon in wt / mu cDNA

1152 / 1152

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

19 / 19

chromosome

strand

-1

last intron/exon boundary

1021

theoretical NMD boundary in CDS

952

length of CDS

1134

coding sequence (CDS) position

866

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

884

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

14391

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

175614810

original gDNA sequence snippet

GCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAA

altered gDNA sequence snippet

GCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAA

original cDNA sequence snippet

GCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAA

altered cDNA sequence snippet

GCTGATCCCCTCCACGTCCATTGCTGTGCCCTTGATTGGAA

wildtype AA sequence

mutated AA sequence

MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL
INVDEVNQIV TTNVRLKQQW VDYNLKWNPD DYGGVKKIHI PSEKIWRPDL VLYNNADGDF
AIVKFTKVLL QYTGHITWTP PAIFKSYCEI IVTHFPFDEQ NCSMKLGTWT YDGSVVAINP
ESDQPDLSNF MESGEWVIKE SRGWKHSVTY SCCPDTPYLD ITYHFVMQRL PLYFIVNVII
PCLLFSFLTG LVFYLPTDSG EKMTLSISVL LSLTVFLLVI VELIPSTSIA VPLIGKYMLF
TMVFVIASII ITVIVINTHH RSPSTHVMPN WVRKAAAEWK YVAMVMDHIL LGVFMLVCII
GTLAVFAGRL IELNQQG*

speed

0.90 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems