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: ENST00000371872
Querying Taster for transcript #2: ENST00000371868
Querying Taster for transcript #3: ENST00000439388
Querying Taster for transcript #4: ENST00000422262
MT speed 3.84 s - this script 4.960394 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SARDH	polymorphism_automatic	2.0927942301352e-07	simple_aae		affected		R42H	single base exchange	rs2073817		show file
SARDH	polymorphism_automatic	3.18343597038862e-07	simple_aae		affected		R614H	single base exchange	rs2073817		show file
SARDH	polymorphism_automatic	3.18343597038862e-07	simple_aae		affected		R614H	single base exchange	rs2073817		show file
SARDH	polymorphism_automatic	3.18343597038862e-07	simple_aae		affected		R446H	single base exchange	rs2073817		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999790720577 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136559460C>TN/A show variant in all transcripts IGV

HGNC symbol

SARDH

Ensembl transcript ID

ENST00000371868

Genbank transcript ID

N/A

UniProt peptide

Q9UL12

alteration type

single base exchange

alteration region

CDS

DNA changes

c.125G>A
cDNA.959G>A
g.45618G>A

AA changes

R42H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs2073817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	334	1188	1522
ExAC	1287	4603	5890

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.976	0.015
	1.625	0.02
(flanking)	0.54	0.01

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	45621	wt: 0.40 / mu: 0.61	wt: GTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACCTGA mu: GTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACCTGA	gtgg\|GGGC
Donor gained	45614	0.44	mu: TCAACCACCATGGGG	AACC\|acca

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

ENSPTRG00000021522

614

Mmulatta

all identical

ENSMMUG00000017210

614

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000009614

615

Ggallus

all identical

ENSGALG00000002855

602

Trubripes

not conserved

ENSTRUG00000008684

Drerio

all identical

ENSDARG00000058102

611

Dmelanogaster

not conserved

FBgn0034276

584

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023098

498

protein features

start (aa)	end (aa)	feature	details
108	108	MOD_RES	Tele-8alpha-FAD histidine (By similarity).	might get lost (downstream of altered splice site)
777	777	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
884	884	MOD_RES	N6-acetyllysine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1107 / 1107

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

369 / 369

position of stopcodon in wt / mu cDNA

1941 / 1941

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

835 / 835

chromosome

strand

-1

last intron/exon boundary

1816

theoretical NMD boundary in CDS

931

length of CDS

1107

coding sequence (CDS) position

125

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

959

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

45618

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

136559460

original gDNA sequence snippet

CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC

altered gDNA sequence snippet

CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC

original cDNA sequence snippet

CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC

altered cDNA sequence snippet

CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC

wildtype AA sequence

MSYFGKFYLV GLDARKAADW LFSADVSRPP GSTVYTCMLN HRGGTESDLT VSRLAPSHQA
SPLAPAFEGD GYYLAMGGAV AQHNWSHITT VLQDQKSQCQ LIDSSEDLGM ISIQGPASRA
ILQEVLDADL SNEAFPFSTH KLLRAAGHLV RAMRLSFVGE LGWELHIPKA SCVPVYRAVM
AAGAKHGLIN AGYRAIDSLS IEKGYRHWHA DLRPDDSPLE AGLAFTCKLK SPVPFLGREA
LEQQRAAGLR RRLVCFTMEE PLWTRPHPAV SGAPAFSTAS SSKVPMFGLE AIWRNGQVVG
HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ AHLKSPFDPN
NKRVKGIY*

mutated AA sequence

MSYFGKFYLV GLDARKAADW LFSADVSRPP GSTVYTCMLN HHGGTESDLT VSRLAPSHQA
SPLAPAFEGD GYYLAMGGAV AQHNWSHITT VLQDQKSQCQ LIDSSEDLGM ISIQGPASRA
ILQEVLDADL SNEAFPFSTH KLLRAAGHLV RAMRLSFVGE LGWELHIPKA SCVPVYRAVM
AAGAKHGLIN AGYRAIDSLS IEKGYRHWHA DLRPDDSPLE AGLAFTCKLK SPVPFLGREA
LEQQRAAGLR RRLVCFTMEE PLWTRPHPAV SGAPAFSTAS SSKVPMFGLE AIWRNGQVVG
HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ AHLKSPFDPN
NKRVKGIY*

speed

1.10 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: 0.999999681656403 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136559460C>TN/A show variant in all transcripts IGV

HGNC symbol

SARDH

Ensembl transcript ID

ENST00000371872

Genbank transcript ID

NM_007101

UniProt peptide

Q9UL12

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1841G>A
cDNA.2099G>A
g.45618G>A

AA changes

R614H Score: 29 explain score(s)

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

614

frameshift

known variant

Reference ID: rs2073817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	334	1188	1522
ExAC	1287	4603	5890

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.976	0.015
	1.625	0.02
(flanking)	0.54	0.01

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	45621	wt: 0.40 / mu: 0.61	wt: GTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACCTGA mu: GTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACCTGA	gtgg\|GGGC
Donor gained	45614	0.44	mu: TCAACCACCATGGGG	AACC\|acca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

614

mutated

not conserved

614

Ptroglodytes

all identical

ENSPTRG00000021522

614

Mmulatta

all identical

ENSMMUG00000017210

614

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000009614

615

Ggallus

all identical

ENSGALG00000002855

602

Trubripes

not conserved

ENSTRUG00000008684

Drerio

all identical

ENSDARG00000058102

611

Dmelanogaster

not conserved

FBgn0034276

584

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023098

498

protein features

start (aa)	end (aa)	feature	details
777	777	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
884	884	MOD_RES	N6-acetyllysine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2757 / 2757

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

919 / 919

position of stopcodon in wt / mu cDNA

3015 / 3015

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

259 / 259

chromosome

strand

-1

last intron/exon boundary

2890

theoretical NMD boundary in CDS

2581

length of CDS

2757

coding sequence (CDS) position

1841

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

2099

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

45618

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

136559460

original gDNA sequence snippet

CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC

altered gDNA sequence snippet

CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC

original cDNA sequence snippet

CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC

altered cDNA sequence snippet

CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC

wildtype AA sequence

MASLSRALRV AAAHPRQSPT RGMGPCNLSS AAGPTAEKSV PYQRTLKEGQ GTSVVAQGPS
RPLPSTANVV VIGGGSLGCQ TLYHLAKLGM SGAVLLERER LTSGTTWHTA GLLWQLRPSD
VEVELLAHTR RVVSRELEEE TGLHTGWIQN GGLFIASNRQ RLDEYKRLMS LGKAYGVESH
VLSPAETKTL YPLMNVDDLY GTLYVPHDGT MDPAGTCTTL ARAASARGAQ VIENCPVTGI
RVWTDDFGVR RVAGVETQHG SIQTPCVVNC AGVWASAVGR MAGVKVPLVA MHHAYVVTER
IEGIQNMPNV RDHDASVYLR LQGDALSVGG YEANPIFWEE VSDKFAFGLF DLDWEVFTQH
IEGAINRVPV LEKTGIKSTV CGPESFTPDH KPLMGEAPEL RGFFLGCGFN SAGMMLGGGC
GQELAHWIIH GRPEKDMHGY DIRRFHHSLT DHPRWIRERS HESYAKNYSV VFPHDEPLAG
RNMRRDPLHE ELLGQGCVFQ ERHGWERPGW FHPRGPAPVL EYDYYGAYGS RAHEDYAYRR
LLADEYTFAF PPHHDTIKKE CLACRGAAAV FDMSYFGKFY LVGLDARKAA DWLFSADVSR
PPGSTVYTCM LNHRGGTESD LTVSRLAPSH QASPLAPAFE GDGYYLAMGG AVAQHNWSHI
TTVLQDQKSQ CQLIDSSEDL GMISIQGPAS RAILQEVLDA DLSNEAFPFS THKLLRAAGH
LVRAMRLSFV GELGWELHIP KASCVPVYRA VMAAGAKHGL INAGYRAIDS LSIEKGYRHW
HADLRPDDSP LEAGLAFTCK LKSPVPFLGR EALEQQRAAG LRRRLVCFTM EDKVPMFGLE
AIWRNGQVVG HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ
AHLKSPFDPN NKRVKGIY*

mutated AA sequence

MASLSRALRV AAAHPRQSPT RGMGPCNLSS AAGPTAEKSV PYQRTLKEGQ GTSVVAQGPS
RPLPSTANVV VIGGGSLGCQ TLYHLAKLGM SGAVLLERER LTSGTTWHTA GLLWQLRPSD
VEVELLAHTR RVVSRELEEE TGLHTGWIQN GGLFIASNRQ RLDEYKRLMS LGKAYGVESH
VLSPAETKTL YPLMNVDDLY GTLYVPHDGT MDPAGTCTTL ARAASARGAQ VIENCPVTGI
RVWTDDFGVR RVAGVETQHG SIQTPCVVNC AGVWASAVGR MAGVKVPLVA MHHAYVVTER
IEGIQNMPNV RDHDASVYLR LQGDALSVGG YEANPIFWEE VSDKFAFGLF DLDWEVFTQH
IEGAINRVPV LEKTGIKSTV CGPESFTPDH KPLMGEAPEL RGFFLGCGFN SAGMMLGGGC
GQELAHWIIH GRPEKDMHGY DIRRFHHSLT DHPRWIRERS HESYAKNYSV VFPHDEPLAG
RNMRRDPLHE ELLGQGCVFQ ERHGWERPGW FHPRGPAPVL EYDYYGAYGS RAHEDYAYRR
LLADEYTFAF PPHHDTIKKE CLACRGAAAV FDMSYFGKFY LVGLDARKAA DWLFSADVSR
PPGSTVYTCM LNHHGGTESD LTVSRLAPSH QASPLAPAFE GDGYYLAMGG AVAQHNWSHI
TTVLQDQKSQ CQLIDSSEDL GMISIQGPAS RAILQEVLDA DLSNEAFPFS THKLLRAAGH
LVRAMRLSFV GELGWELHIP KASCVPVYRA VMAAGAKHGL INAGYRAIDS LSIEKGYRHW
HADLRPDDSP LEAGLAFTCK LKSPVPFLGR EALEQQRAAG LRRRLVCFTM EDKVPMFGLE
AIWRNGQVVG HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ
AHLKSPFDPN NKRVKGIY*

speed

0.99 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999681656403 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136559460C>TN/A show variant in all transcripts IGV

HGNC symbol

SARDH

Ensembl transcript ID

ENST00000439388

Genbank transcript ID

NM_001134707

UniProt peptide

Q9UL12

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1841G>A
cDNA.1975G>A
g.45618G>A

AA changes

R614H Score: 29 explain score(s)

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

614

frameshift

known variant

Reference ID: rs2073817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	334	1188	1522
ExAC	1287	4603	5890

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.976	0.015
	1.625	0.02
(flanking)	0.54	0.01

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	45621	wt: 0.40 / mu: 0.61	wt: GTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACCTGA mu: GTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACCTGA	gtgg\|GGGC
Donor gained	45614	0.44	mu: TCAACCACCATGGGG	AACC\|acca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

614

mutated

not conserved

614

Ptroglodytes

all identical

ENSPTRG00000021522

614

Mmulatta

all identical

ENSMMUG00000017210

614

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000009614

615

Ggallus

all identical

ENSGALG00000002855

602

Trubripes

not conserved

ENSTRUG00000008684

Drerio

all identical

ENSDARG00000058102

611

Dmelanogaster

not conserved

FBgn0034276

584

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023098

498

protein features

start (aa)	end (aa)	feature	details
777	777	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
884	884	MOD_RES	N6-acetyllysine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2757 / 2757

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

919 / 919

position of stopcodon in wt / mu cDNA

2891 / 2891

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

135 / 135

chromosome

strand

-1

last intron/exon boundary

2766

theoretical NMD boundary in CDS

2581

length of CDS

2757

coding sequence (CDS) position

1841

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

1975

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

45618

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

136559460

original gDNA sequence snippet

CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC

altered gDNA sequence snippet

CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC

original cDNA sequence snippet

CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC

altered cDNA sequence snippet

CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC

wildtype AA sequence

mutated AA sequence

MASLSRALRV AAAHPRQSPT RGMGPCNLSS AAGPTAEKSV PYQRTLKEGQ GTSVVAQGPS
RPLPSTANVV VIGGGSLGCQ TLYHLAKLGM SGAVLLERER LTSGTTWHTA GLLWQLRPSD
VEVELLAHTR RVVSRELEEE TGLHTGWIQN GGLFIASNRQ RLDEYKRLMS LGKAYGVESH
VLSPAETKTL YPLMNVDDLY GTLYVPHDGT MDPAGTCTTL ARAASARGAQ VIENCPVTGI
RVWTDDFGVR RVAGVETQHG SIQTPCVVNC AGVWASAVGR MAGVKVPLVA MHHAYVVTER
IEGIQNMPNV RDHDASVYLR LQGDALSVGG YEANPIFWEE VSDKFAFGLF DLDWEVFTQH
IEGAINRVPV LEKTGIKSTV CGPESFTPDH KPLMGEAPEL RGFFLGCGFN SAGMMLGGGC
GQELAHWIIH GRPEKDMHGY DIRRFHHSLT DHPRWIRERS HESYAKNYSV VFPHDEPLAG
RNMRRDPLHE ELLGQGCVFQ ERHGWERPGW FHPRGPAPVL EYDYYGAYGS RAHEDYAYRR
LLADEYTFAF PPHHDTIKKE CLACRGAAAV FDMSYFGKFY LVGLDARKAA DWLFSADVSR
PPGSTVYTCM LNHHGGTESD LTVSRLAPSH QASPLAPAFE GDGYYLAMGG AVAQHNWSHI
TTVLQDQKSQ CQLIDSSEDL GMISIQGPAS RAILQEVLDA DLSNEAFPFS THKLLRAAGH
LVRAMRLSFV GELGWELHIP KASCVPVYRA VMAAGAKHGL INAGYRAIDS LSIEKGYRHW
HADLRPDDSP LEAGLAFTCK LKSPVPFLGR EALEQQRAAG LRRRLVCFTM EDKVPMFGLE
AIWRNGQVVG HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ
AHLKSPFDPN NKRVKGIY*

speed

1.01 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999681656403 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136559460C>TN/A show variant in all transcripts IGV

HGNC symbol

SARDH

Ensembl transcript ID

ENST00000422262

Genbank transcript ID

N/A

UniProt peptide

Q9UL12

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1337G>A
cDNA.1773G>A
g.45618G>A

AA changes

R446H Score: 29 explain score(s)

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

446

frameshift

known variant

Reference ID: rs2073817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	334	1188	1522
ExAC	1287	4603	5890

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.976	0.015
	1.625	0.02
(flanking)	0.54	0.01

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	45621	wt: 0.40 / mu: 0.61	wt: GTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACCTGA mu: GTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACCTGA	gtgg\|GGGC
Donor gained	45614	0.44	mu: TCAACCACCATGGGG	AACC\|acca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

446

mutated

not conserved

446

Ptroglodytes

all identical

ENSPTRG00000021522

614

Mmulatta

all identical

ENSMMUG00000017210

614

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000009614

615

Ggallus

all identical

ENSGALG00000002855

602

Trubripes

not conserved

ENSTRUG00000008684

Drerio

all identical

ENSDARG00000058102

611

Dmelanogaster

not conserved

FBgn0034276

584

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023098

498

protein features

start (aa)	end (aa)	feature	details
777	777	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
884	884	MOD_RES	N6-acetyllysine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2253 / 2253

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

751 / 751

position of stopcodon in wt / mu cDNA

2689 / 2689

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

437 / 437

chromosome

strand

-1

last intron/exon boundary

2564

theoretical NMD boundary in CDS

2077

length of CDS

2253

coding sequence (CDS) position

1337

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

1773

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

45618

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

136559460

original gDNA sequence snippet

CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC

altered gDNA sequence snippet

CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC

original cDNA sequence snippet

CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC

altered cDNA sequence snippet

CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC

wildtype AA sequence

MSLGKAYGVE SHVLSPAETK TLYPLMNVDD LYGTLYVPHD GTMDPAGTCT TLARAASARG
AQVIENCPVT GIRVWTDDFG VRRVAGVETQ HGSIQTPCVV NCAGVWASAV GRMAGVKVPL
VAMHHAYVVT ERIEGIQNMP NVRDHDASVY LRLQGDALSV GGYEANPIFW EEVSDKFAFG
LFDLDWEVFT QHIEGAINRV PVLEKTGIKS TVCGPESFTP DHKPLMGEAP ELRGFFLGCG
FNSAGMMLGG GCGQELAHWI IHGRPEKDMH GYDIRRFHHS LTDHPRWIRE RSHESYAKNY
SVVFPHDEPL AGRNMRRDPL HEELLGQGCV FQERHGWERP GWFHPRGPAP VLEYDYYGAY
GSRAHEDYAY RRLLADEYTF AFPPHHDTIK KECLACRGAA AVFDMSYFGK FYLVGLDARK
AADWLFSADV SRPPGSTVYT CMLNHRGGTE SDLTVSRLAP SHQASPLAPA FEGDGYYLAM
GGAVAQHNWS HITTVLQDQK SQCQLIDSSE DLGMISIQGP ASRAILQEVL DADLSNEAFP
FSTHKLLRAA GHLVRAMRLS FVGELGWELH IPKASCVPVY RAVMAAGAKH GLINAGYRAI
DSLSIEKGYR HWHADLRPDD SPLEAGLAFT CKLKSPVPFL GREALEQQRA AGLRRRLVCF
TMEDKVPMFG LEAIWRNGQV VGHVRRADFG FAIDKTIAYG YIHDPSGGPV SLDFVKSGDY
ALERMGVTYG AQAHLKSPFD PNNKRVKGIY *

mutated AA sequence

MSLGKAYGVE SHVLSPAETK TLYPLMNVDD LYGTLYVPHD GTMDPAGTCT TLARAASARG
AQVIENCPVT GIRVWTDDFG VRRVAGVETQ HGSIQTPCVV NCAGVWASAV GRMAGVKVPL
VAMHHAYVVT ERIEGIQNMP NVRDHDASVY LRLQGDALSV GGYEANPIFW EEVSDKFAFG
LFDLDWEVFT QHIEGAINRV PVLEKTGIKS TVCGPESFTP DHKPLMGEAP ELRGFFLGCG
FNSAGMMLGG GCGQELAHWI IHGRPEKDMH GYDIRRFHHS LTDHPRWIRE RSHESYAKNY
SVVFPHDEPL AGRNMRRDPL HEELLGQGCV FQERHGWERP GWFHPRGPAP VLEYDYYGAY
GSRAHEDYAY RRLLADEYTF AFPPHHDTIK KECLACRGAA AVFDMSYFGK FYLVGLDARK
AADWLFSADV SRPPGSTVYT CMLNHHGGTE SDLTVSRLAP SHQASPLAPA FEGDGYYLAM
GGAVAQHNWS HITTVLQDQK SQCQLIDSSE DLGMISIQGP ASRAILQEVL DADLSNEAFP
FSTHKLLRAA GHLVRAMRLS FVGELGWELH IPKASCVPVY RAVMAAGAKH GLINAGYRAI
DSLSIEKGYR HWHADLRPDD SPLEAGLAFT CKLKSPVPFL GREALEQQRA AGLRRRLVCF
TMEDKVPMFG LEAIWRNGQV VGHVRRADFG FAIDKTIAYG YIHDPSGGPV SLDFVKSGDY
ALERMGVTYG AQAHLKSPFD PNNKRVKGIY *

speed

0.74 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

Problems