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: ENST00000209873
Querying Taster for transcript #2: ENST00000394384
Querying Taster for transcript #3: ENST00000550286
MT speed 0 s - this script 3.528743 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AAAS	disease_causing_automatic	0.836512127674614	simple_aae		affected	0	L430F	single base exchange	rs121918551		show file
AAAS	disease_causing_automatic	0.836512127674614	simple_aae		affected	0	L397F	single base exchange	rs121918551		show file
AAAS	disease_causing_automatic	0.873597778996748	simple_aae		affected	0	L306F	single base exchange	rs121918551		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.836512127674614 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM086756)
known disease mutation: rs5047 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:53701879G>AN/A show variant in all transcripts IGV

HGNC symbol

AAAS

Ensembl transcript ID

ENST00000209873

Genbank transcript ID

NM_015665

UniProt peptide

Q9NRG9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1288C>T
cDNA.1454C>T
g.16770C>T

AA changes

L430F Score: 22 explain score(s)

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

430

frameshift

known variant

Reference ID: rs121918551

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

known disease mutation: rs5047 (pathogenic for Glucocorticoid deficiency with achalasia) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM086756)

known disease mutation at this position, please check HGMD for details (HGMD ID CM086756)
known disease mutation at this position, please check HGMD for details (HGMD ID CM086756)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.49	1
	2.936	1
(flanking)	0.163	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 marginally increased	16778	wt: 0.9710 / mu: 0.9866 (marginal change - not scored)	wt: CCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTT mu: CCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTGTT	tcgc\|ACTC
Acc increased	16772	wt: 0.38 / mu: 0.46	wt: GGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCC mu: GGTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCC	cctt\|TTTC
Acc increased	16774	wt: 0.42 / mu: 0.50	wt: TAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTG mu: TAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTG	tttt\|TCGC
Acc marginally increased	16777	wt: 0.9526 / mu: 0.9560 (marginal change - not scored)	wt: ACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGT mu: ACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTGT	ttcg\|CACT
Acc marginally increased	16776	wt: 0.9451 / mu: 0.9729 (marginal change - not scored)	wt: AACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTG mu: AACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTG	tttc\|GCAC
Acc increased	16775	wt: 0.68 / mu: 0.80	wt: AAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGT mu: AAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGT	tttt\|CGCA
Acc marginally increased	16780	wt: 0.9236 / mu: 0.9753 (marginal change - not scored)	wt: AGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTTTG mu: AGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTGTTTG	gcac\|TCGA
Acc increased	16773	wt: 0.55 / mu: 0.73	wt: GTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCT mu: GTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCT	cttt\|TTCG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

430

mutated

not conserved

430

Ptroglodytes

all identical

ENSPTRG00000005012

430

Mmulatta

no alignment

ENSMMUG00000022036

n/a

Fcatus

all identical

ENSFCAG00000005881

430

Mmusculus

all identical

ENSMUSG00000036678

430

Ggallus

all conserved

ENSGALG00000013597

281

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000019547

413

Dmelanogaster

not conserved

FBgn0030122

414

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000012664

436

protein features

start (aa)	end (aa)	feature	details
479	479	CONFLICT	I -> V (in Ref. 5; BAA91394).	might get lost (downstream of altered splice site)
495	495	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
544	546	MOTIF	Microbody targeting signal (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1641 / 1641

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

547 / 547

position of stopcodon in wt / mu cDNA

1807 / 1807

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

167 / 167

chromosome

strand

-1

last intron/exon boundary

1583

theoretical NMD boundary in CDS

1366

length of CDS

1641

coding sequence (CDS) position

1288

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

1454

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

16770

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

53701879

original gDNA sequence snippet

ATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGC

altered gDNA sequence snippet

ATGGTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGC

original cDNA sequence snippet

ATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGC

altered cDNA sequence snippet

ATGGTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGC

wildtype AA sequence

MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL TKDPLKTPGR
LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE EEVFEWVKTA SGWALALCRW
ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA
SSTIVPSLKH RLQRNVASLA WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS
HPGHTPVTSL AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS
KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE PLIYSLSFPE
RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH SMVWDPSGER LAVLMKGKPR
VQDGKPVILL FRTRNSPVFE LLPCGIIQGE PGAQPQLITF HPSFNKGALL SVGWSTGRIA
HIPLYFVNAQ FPRFSPVLGR AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH
SPHSHL*

mutated AA sequence

MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL TKDPLKTPGR
LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE EEVFEWVKTA SGWALALCRW
ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA
SSTIVPSLKH RLQRNVASLA WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS
HPGHTPVTSL AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS
KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE PLIYSLSFPE
RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH SMVWDPSGER LAVLMKGKPR
VQDGKPVILF FRTRNSPVFE LLPCGIIQGE PGAQPQLITF HPSFNKGALL SVGWSTGRIA
HIPLYFVNAQ FPRFSPVLGR AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH
SPHSHL*

speed

0.60 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: 0.836512127674614 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM086756)
known disease mutation: rs5047 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:53701879G>AN/A show variant in all transcripts IGV

HGNC symbol

AAAS

Ensembl transcript ID

ENST00000394384

Genbank transcript ID

NM_001173466

UniProt peptide

Q9NRG9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1189C>T
cDNA.1320C>T
g.16770C>T

AA changes

L397F Score: 22 explain score(s)

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

397

frameshift

known variant

Reference ID: rs121918551

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

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.49	1
	2.936	1
(flanking)	0.163	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 marginally increased	16778	wt: 0.9710 / mu: 0.9866 (marginal change - not scored)	wt: CCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTT mu: CCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTGTT	tcgc\|ACTC
Acc increased	16772	wt: 0.38 / mu: 0.46	wt: GGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCC mu: GGTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCC	cctt\|TTTC
Acc increased	16774	wt: 0.42 / mu: 0.50	wt: TAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTG mu: TAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTG	tttt\|TCGC
Acc marginally increased	16777	wt: 0.9526 / mu: 0.9560 (marginal change - not scored)	wt: ACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGT mu: ACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTGT	ttcg\|CACT
Acc marginally increased	16776	wt: 0.9451 / mu: 0.9729 (marginal change - not scored)	wt: AACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTG mu: AACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTG	tttc\|GCAC
Acc increased	16775	wt: 0.68 / mu: 0.80	wt: AAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGT mu: AAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGT	tttt\|CGCA
Acc marginally increased	16780	wt: 0.9236 / mu: 0.9753 (marginal change - not scored)	wt: AGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTTTG mu: AGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTGTTTG	gcac\|TCGA
Acc increased	16773	wt: 0.55 / mu: 0.73	wt: GTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCT mu: GTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCT	cttt\|TTCG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

397

mutated

not conserved

397

Ptroglodytes

all identical

ENSPTRG00000005012

430

Mmulatta

no alignment

ENSMMUG00000022036

n/a

Fcatus

all identical

ENSFCAG00000005881

430

Mmusculus

all identical

ENSMUSG00000036678

430

Ggallus

all conserved

ENSGALG00000013597

281

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000019547

413

Dmelanogaster

not conserved

FBgn0030122

414

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000012664

436

protein features

start (aa)	end (aa)	feature	details
479	479	CONFLICT	I -> V (in Ref. 5; BAA91394).	might get lost (downstream of altered splice site)
495	495	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
544	546	MOTIF	Microbody targeting signal (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1542 / 1542

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

514 / 514

position of stopcodon in wt / mu cDNA

1673 / 1673

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

132 / 132

chromosome

strand

-1

last intron/exon boundary

1449

theoretical NMD boundary in CDS

1267

length of CDS

1542

coding sequence (CDS) position

1189

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

1320

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

16770

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

53701879

original gDNA sequence snippet

ATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGC

altered gDNA sequence snippet

ATGGTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGC

original cDNA sequence snippet

ATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGC

altered cDNA sequence snippet

ATGGTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGC

wildtype AA sequence

MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL TKDPLKTPGR
LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE EEVFEWVKTA SGWALALCRW
ASSLHGSLFP HLSLRSEDLI AEFAQVTNCT IVPSLKHRLQ RNVASLAWKP LSASVLAVAC
QSCILIWTLD PTSLSTRPSS GCAQVLSHPG HTPVTSLAWA PSGGRLLSAS PVDAAIRVWD
VSTETCVPLP WFRGGGVTNL LWSPDGSKIL ATTPSAVFRV WEAQMWTCER WPTLSGRCQT
GCWSPDGSRL LFTVLGEPLI YSLSFPERCG EGKGCVGGAK SATIVADLSE TTIQTPDGEE
RLGGEAHSMV WDPSGERLAV LMKGKPRVQD GKPVILLFRT RNSPVFELLP CGIIQGEPGA
QPQLITFHPS FNKGALLSVG WSTGRIAHIP LYFVNAQFPR FSPVLGRAQE PPAGGGGSIH
DLPLFTETSP TSAPWDPLPG PPPVLPHSPH SHL*

mutated AA sequence

MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL TKDPLKTPGR
LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE EEVFEWVKTA SGWALALCRW
ASSLHGSLFP HLSLRSEDLI AEFAQVTNCT IVPSLKHRLQ RNVASLAWKP LSASVLAVAC
QSCILIWTLD PTSLSTRPSS GCAQVLSHPG HTPVTSLAWA PSGGRLLSAS PVDAAIRVWD
VSTETCVPLP WFRGGGVTNL LWSPDGSKIL ATTPSAVFRV WEAQMWTCER WPTLSGRCQT
GCWSPDGSRL LFTVLGEPLI YSLSFPERCG EGKGCVGGAK SATIVADLSE TTIQTPDGEE
RLGGEAHSMV WDPSGERLAV LMKGKPRVQD GKPVILFFRT RNSPVFELLP CGIIQGEPGA
QPQLITFHPS FNKGALLSVG WSTGRIAHIP LYFVNAQFPR FSPVLGRAQE PPAGGGGSIH
DLPLFTETSP TSAPWDPLPG PPPVLPHSPH SHL*

speed

0.75 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.873597778996748 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM086756)
known disease mutation: rs5047 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:53701879G>AN/A show variant in all transcripts IGV

HGNC symbol

AAAS

Ensembl transcript ID

ENST00000550286

Genbank transcript ID

N/A

UniProt peptide

Q9NRG9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.916C>T
cDNA.1270C>T
g.16770C>T

AA changes

L306F Score: 22 explain score(s)

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

306

frameshift

known variant

Reference ID: rs121918551

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

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.49	1
	2.936	1
(flanking)	0.163	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 marginally increased	16778	wt: 0.9710 / mu: 0.9866 (marginal change - not scored)	wt: CCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTT mu: CCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTGTT	tcgc\|ACTC
Acc increased	16772	wt: 0.38 / mu: 0.46	wt: GGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCC mu: GGTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCC	cctt\|TTTC
Acc increased	16774	wt: 0.42 / mu: 0.50	wt: TAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTG mu: TAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTG	tttt\|TCGC
Acc marginally increased	16777	wt: 0.9526 / mu: 0.9560 (marginal change - not scored)	wt: ACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGT mu: ACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTGT	ttcg\|CACT
Acc marginally increased	16776	wt: 0.9451 / mu: 0.9729 (marginal change - not scored)	wt: AACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTG mu: AACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTG	tttc\|GCAC
Acc increased	16775	wt: 0.68 / mu: 0.80	wt: AAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGT mu: AAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGT	tttt\|CGCA
Acc marginally increased	16780	wt: 0.9236 / mu: 0.9753 (marginal change - not scored)	wt: AGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTTTG mu: AGTCATCCTCTTTTTTCGCACTCGAAACAGCCCTGTGTTTG	gcac\|TCGA
Acc increased	16773	wt: 0.55 / mu: 0.73	wt: GTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCT mu: GTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGCCCT	cttt\|TTCG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

306

mutated

not conserved

306

Ptroglodytes

all identical

ENSPTRG00000005012

430

Mmulatta

no alignment

ENSMMUG00000022036

n/a

Fcatus

all identical

ENSFCAG00000005881

430

Mmusculus

all identical

ENSMUSG00000036678

430

Ggallus

all conserved

ENSGALG00000013597

281

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000019547

413

Dmelanogaster

not conserved

FBgn0030122

416

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000012664

436

protein features

start (aa)	end (aa)	feature	details
285	324	REPEAT	WD 4.	lost
479	479	CONFLICT	I -> V (in Ref. 5; BAA91394).	might get lost (downstream of altered splice site)
495	495	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
544	546	MOTIF	Microbody targeting signal (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1269 / 1269

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

423 / 423

position of stopcodon in wt / mu cDNA

1623 / 1623

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

355 / 355

chromosome

strand

-1

last intron/exon boundary

1399

theoretical NMD boundary in CDS

994

length of CDS

1269

coding sequence (CDS) position

916

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

1270

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

16770

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

53701879

original gDNA sequence snippet

ATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGC

altered gDNA sequence snippet

ATGGTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGC

original cDNA sequence snippet

ATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGC

altered cDNA sequence snippet

ATGGTAAACCAGTCATCCTCTTTTTTCGCACTCGAAACAGC

wildtype AA sequence

MKLQTQKKRL RSEDLIAEFA QVTNWSSCCL RVFAWHPHTN KFAVALLDDS VRVYNASSTI
VPSLKHRLQR NVASLAWKPL SASVLAVACQ SCILIWTLDP TSLSTRPSSG CAQVLSHPGH
TPVTSLAWAP SGGRLLSASP VDAAIRVWDV STETCVPLPW FRGGGVTNLL WSPDGSKILA
TTPSAVFRVW EAQMWTCERW PTLSGRCQTG CWSPDGSRLL FTVLGEPLIY SLSFPERCGE
GKGCVGGAKS ATIVADLSET TIQTPDGEER LGGEAHSMVW DPSGERLAVL MKGKPRVQDG
KPVILLFRTR NSPVFELLPC GIIQGEPGAQ PQLITFHPSF NKGALLSVGW STGRIAHIPL
YFVNAQFPRF SPVLGRAQEP PAGGGGSIHD LPLFTETSPT SAPWDPLPGP PPVLPHSPHS
HL*

mutated AA sequence

MKLQTQKKRL RSEDLIAEFA QVTNWSSCCL RVFAWHPHTN KFAVALLDDS VRVYNASSTI
VPSLKHRLQR NVASLAWKPL SASVLAVACQ SCILIWTLDP TSLSTRPSSG CAQVLSHPGH
TPVTSLAWAP SGGRLLSASP VDAAIRVWDV STETCVPLPW FRGGGVTNLL WSPDGSKILA
TTPSAVFRVW EAQMWTCERW PTLSGRCQTG CWSPDGSRLL FTVLGEPLIY SLSFPERCGE
GKGCVGGAKS ATIVADLSET TIQTPDGEER LGGEAHSMVW DPSGERLAVL MKGKPRVQDG
KPVILFFRTR NSPVFELLPC GIIQGEPGAQ PQLITFHPSF NKGALLSVGW STGRIAHIPL
YFVNAQFPRF SPVLGRAQEP PAGGGGSIHD LPLFTETSPT SAPWDPLPGP PPVLPHSPHS
HL*

speed

0.70 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