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: ENST00000326735
Querying Taster for transcript #2: ENST00000341676
Querying Taster for transcript #3: ENST00000452699
MT speed 0 s - this script 4.154094 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ATP13A2	disease_causing	0.999896809134182	simple_aae		affected		L1015R	single base exchange	rs137853967		show file
ATP13A2	disease_causing	0.999896809134182	simple_aae		affected		L1059R	single base exchange	rs137853967		show file
ATP13A2	disease_causing	0.999896809134182	simple_aae		affected		L1054R	single base exchange	rs137853967		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999896809134182 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM116828)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:17313359A>CN/A show variant in all transcripts IGV

HGNC symbol

ATP13A2

Ensembl transcript ID

ENST00000341676

Genbank transcript ID

NM_001141974

UniProt peptide

Q9NQ11

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3044T>G
cDNA.3221T>G
g.25065T>G

AA changes

L1015R Score: 102 explain score(s)

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

1015

frameshift

known variant

Reference ID: rs137853967
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM116828)

known disease mutation at this position, please check HGMD for details (HGMD ID CM116828)
known disease mutation at this position, please check HGMD for details (HGMD ID CM116828)

regulatory features

CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.659	1
	3.869	1
(flanking)	1.841	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	25056	wt: 0.2909 / mu: 0.2990 (marginal change - not scored)	wt: GGTCTTCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTG mu: GGTCTTCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTG	gctt\|CCAG
Acc increased	25058	wt: 0.61 / mu: 0.70	wt: TCTTCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCA mu: TCTTCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCA	ttcc\|AGTA
Acc marginally increased	25059	wt: 0.9520 / mu: 0.9576 (marginal change - not scored)	wt: CTTCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAG mu: CTTCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAG	tcca\|GTAC
Acc increased	25061	wt: 0.42 / mu: 0.49	wt: TCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAGCC mu: TCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAGCC	cagt\|ACCT
Donor gained	25059	0.90	mu: CTTCCAGTACCGCAT	TCCA\|gtac

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1015

mutated

not conserved

1015

Ptroglodytes

all identical

ENSPTRG00000000241

964

Mmulatta

all identical

ENSMMUG00000001610

1058

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000036622

1048

Ggallus

no alignment

ENSGALG00000003774

n/a

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000061890

1038

Dmelanogaster

all conserved

FBgn0052000

1294

Celegans

all conserved

W08D2.5

1061

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
998	1018	TRANSMEM	Helical; (Potential).	lost
1019	1046	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1047	1066	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1067	1079	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1080	1097	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1098	1113	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1114	1134	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1135	1180	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3477 / 3477

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

1159 / 1159

position of stopcodon in wt / mu cDNA

3654 / 3654

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

178 / 178

chromosome

strand

-1

last intron/exon boundary

3281

theoretical NMD boundary in CDS

3053

length of CDS

3477

coding sequence (CDS) position

3044

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

3221

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

25065

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

17313359

original gDNA sequence snippet

TCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAGCCGTGT

altered gDNA sequence snippet

TCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAGCCGTGT

original cDNA sequence snippet

TCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAGCCGTGT

altered cDNA sequence snippet

TCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAGCCGTGT

wildtype AA sequence

MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI
PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS
PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAKRVLRY YLFQGQRYIW IETQQAFYQV
SLLDHGRSCD DVHRSRHGLS LQDQMVRKAI YGPNVISIPV KSYPQLLVDE ALNPYYGFQA
FSIALWLADH YYWYALCIFL ISSISICLSL YKTRKQSQTL RDMVKLSMRV CVCRPGGEEE
WVDSSELVPG DCLVLPQEGG LMPCDAALVA GECMVNESSL TGESIPVLKT ALPEGLGPYC
AETHRRHTLF CGTLILQARA YVGPHVLAVV TRTGFCTAKG GLVSSILHPR PINFKFYKHS
MKFVAALSVL ALLGTIYSIF ILYRNRVPLN EIVIRALDLV TVVVPPALPA AMTVCTLYAQ
SRLRRQGIFC IHPLRINLGG KLQLVCFDKT GTLTEDGLDV MGVVPLKGQA FLPLVPEPRR
LPVGPLLRAL ATCHALSRLQ DTPVGDPMDL KMVESTGWVL EEEPAADSAF GTQVLAVMRP
PLWEPQLQAM EEPPVPVSVL HRFPFSSALQ RMSVVVAWPG ATQPEAYVKG SPELVAGLCN
PETVPTDFAQ MLQSYTAAGY RVVALASKPL PTVPSLEAAQ QLTRDTVEGD LSLLGLLVMR
NLLKPQTTPV IQALRRTRIR AVMVTGDNLQ TAVTVARGCG MVAPQEHLII VHATHPERGQ
PASLEFLPME SPTAVNGVKV LVQGTVFARM APEQKTELVC ELQKLQYCVG MCGDGANDCG
ALKAADVGIS LSQAEASVVS PFTSSMASIE CVPMVIREGR CSLDTSFSVF KYMALYSLTQ
FISVLILYTI NTNLGDLQFL AIDLVITTTV AVLMSRTGPA LVLGRVRPPG ALLSVPVLSS
LLLQMVLVTG VQLGGYFLTL AQPWFVPLNR TVAAPDNLPN YENTVVFSLS SFQYLILAAA
VSKGAPFRRP LYTNERARPV PPRLPAPPPA QAGLQEALQA AGTRAGRAAL AAAARRPPEV
VQAHGHPRHW NSLPLSHQLD PSPATPPPPP PTSLRLATVY TPPPRPPPPW GSVDYCPLPW
TIPRRGGSPQ LPSVLLSV*

mutated AA sequence

MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI
PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS
PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAKRVLRY YLFQGQRYIW IETQQAFYQV
SLLDHGRSCD DVHRSRHGLS LQDQMVRKAI YGPNVISIPV KSYPQLLVDE ALNPYYGFQA
FSIALWLADH YYWYALCIFL ISSISICLSL YKTRKQSQTL RDMVKLSMRV CVCRPGGEEE
WVDSSELVPG DCLVLPQEGG LMPCDAALVA GECMVNESSL TGESIPVLKT ALPEGLGPYC
AETHRRHTLF CGTLILQARA YVGPHVLAVV TRTGFCTAKG GLVSSILHPR PINFKFYKHS
MKFVAALSVL ALLGTIYSIF ILYRNRVPLN EIVIRALDLV TVVVPPALPA AMTVCTLYAQ
SRLRRQGIFC IHPLRINLGG KLQLVCFDKT GTLTEDGLDV MGVVPLKGQA FLPLVPEPRR
LPVGPLLRAL ATCHALSRLQ DTPVGDPMDL KMVESTGWVL EEEPAADSAF GTQVLAVMRP
PLWEPQLQAM EEPPVPVSVL HRFPFSSALQ RMSVVVAWPG ATQPEAYVKG SPELVAGLCN
PETVPTDFAQ MLQSYTAAGY RVVALASKPL PTVPSLEAAQ QLTRDTVEGD LSLLGLLVMR
NLLKPQTTPV IQALRRTRIR AVMVTGDNLQ TAVTVARGCG MVAPQEHLII VHATHPERGQ
PASLEFLPME SPTAVNGVKV LVQGTVFARM APEQKTELVC ELQKLQYCVG MCGDGANDCG
ALKAADVGIS LSQAEASVVS PFTSSMASIE CVPMVIREGR CSLDTSFSVF KYMALYSLTQ
FISVLILYTI NTNLGDLQFL AIDLVITTTV AVLMSRTGPA LVLGRVRPPG ALLSVPVLSS
LLLQMVLVTG VQLGGYFLTL AQPWFVPLNR TVAAPDNLPN YENTVVFSLS SFQYRILAAA
VSKGAPFRRP LYTNERARPV PPRLPAPPPA QAGLQEALQA AGTRAGRAAL AAAARRPPEV
VQAHGHPRHW NSLPLSHQLD PSPATPPPPP PTSLRLATVY TPPPRPPPPW GSVDYCPLPW
TIPRRGGSPQ LPSVLLSV*

speed

1.05 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: 0.999896809134182 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM116828)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:17313359A>CN/A show variant in all transcripts IGV

HGNC symbol

ATP13A2

Ensembl transcript ID

ENST00000326735

Genbank transcript ID

NM_022089

UniProt peptide

Q9NQ11

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3176T>G
cDNA.3210T>G
g.25065T>G

AA changes

L1059R Score: 102 explain score(s)

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

1059

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.659	1
	3.869	1
(flanking)	1.841	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	25056	wt: 0.2909 / mu: 0.2990 (marginal change - not scored)	wt: GGTCTTCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTG mu: GGTCTTCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTG	gctt\|CCAG
Acc increased	25058	wt: 0.61 / mu: 0.70	wt: TCTTCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCA mu: TCTTCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCA	ttcc\|AGTA
Acc marginally increased	25059	wt: 0.9520 / mu: 0.9576 (marginal change - not scored)	wt: CTTCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAG mu: CTTCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAG	tcca\|GTAC
Acc increased	25061	wt: 0.42 / mu: 0.49	wt: TCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAGCC mu: TCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAGCC	cagt\|ACCT
Donor gained	25059	0.90	mu: CTTCCAGTACCGCAT	TCCA\|gtac

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1059

mutated

not conserved

1059

Ptroglodytes

all identical

ENSPTRG00000000241

964

Mmulatta

all identical

ENSMMUG00000001610

1058

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000036622

1048

Ggallus

no alignment

ENSGALG00000003774

n/a

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000061890

1038

Dmelanogaster

all conserved

FBgn0052000

1294

Celegans

all conserved

W08D2.5

1061

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1047	1066	TRANSMEM	Helical; (Potential).	lost
1067	1079	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1080	1097	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1098	1113	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1114	1134	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1135	1180	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3543 / 3543

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

1181 / 1181

position of stopcodon in wt / mu cDNA

3577 / 3577

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

35 / 35

chromosome

strand

-1

last intron/exon boundary

3440

theoretical NMD boundary in CDS

3355

length of CDS

3543

coding sequence (CDS) position

3176

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

3210

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

25065

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

17313359

original gDNA sequence snippet

TCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAGCCGTGT

altered gDNA sequence snippet

TCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAGCCGTGT

original cDNA sequence snippet

TCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAGCCGTGT

altered cDNA sequence snippet

TCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAGCCGTGT

wildtype AA sequence

MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI
PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS
PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAVSVGQK RVLRYYLFQG QRYIWIETQQ
AFYQVSLLDH GRSCDDVHRS RHGLSLQDQM VRKAIYGPNV ISIPVKSYPQ LLVDEALNPY
YGFQAFSIAL WLADHYYWYA LCIFLISSIS ICLSLYKTRK QSQTLRDMVK LSMRVCVCRP
GGEEEWVDSS ELVPGDCLVL PQEGGLMPCD AALVAGECMV NESSLTGESI PVLKTALPEG
LGPYCAETHR RHTLFCGTLI LQARAYVGPH VLAVVTRTGF CTAKGGLVSS ILHPRPINFK
FYKHSMKFVA ALSVLALLGT IYSIFILYRN RVPLNEIVIR ALDLVTVVVP PALPAAMTVC
TLYAQSRLRR QGIFCIHPLR INLGGKLQLV CFDKTGTLTE DGLDVMGVVP LKGQAFLPLV
PEPRRLPVGP LLRALATCHA LSRLQDTPVG DPMDLKMVES TGWVLEEEPA ADSAFGTQVL
AVMRPPLWEP QLQAMEEPPV PVSVLHRFPF SSALQRMSVV VAWPGATQPE AYVKGSPELV
AGLCNPETVP TDFAQMLQSY TAAGYRVVAL ASKPLPTVPS LEAAQQLTRD TVEGDLSLLG
LLVMRNLLKP QTTPVIQALR RTRIRAVMVT GDNLQTAVTV ARGCGMVAPQ EHLIIVHATH
PERGQPASLE FLPMESPTAV NGVKDPDQAA SYTVEPDPRS RHLALSGPTF GIIVKHFPKL
LPKVLVQGTV FARMAPEQKT ELVCELQKLQ YCVGMCGDGA NDCGALKAAD VGISLSQAEA
SVVSPFTSSM ASIECVPMVI REGRCSLDTS FSVFKYMALY SLTQFISVLI LYTINTNLGD
LQFLAIDLVI TTTVAVLMSR TGPALVLGRV RPPGALLSVP VLSSLLLQMV LVTGVQLGGY
FLTLAQPWFV PLNRTVAAPD NLPNYENTVV FSLSSFQYLI LAAAVSKGAP FRRPLYTNVP
FLVALALLSS VLVGLVLVPG LLQGPLALRN ITDTGFKLLL LGLVTLNFVG AFMLESVLDQ
CLPACLRRLR PKRASKKRFK QLERELAEQP WPPLPAGPLR *

mutated AA sequence

MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI
PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS
PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAVSVGQK RVLRYYLFQG QRYIWIETQQ
AFYQVSLLDH GRSCDDVHRS RHGLSLQDQM VRKAIYGPNV ISIPVKSYPQ LLVDEALNPY
YGFQAFSIAL WLADHYYWYA LCIFLISSIS ICLSLYKTRK QSQTLRDMVK LSMRVCVCRP
GGEEEWVDSS ELVPGDCLVL PQEGGLMPCD AALVAGECMV NESSLTGESI PVLKTALPEG
LGPYCAETHR RHTLFCGTLI LQARAYVGPH VLAVVTRTGF CTAKGGLVSS ILHPRPINFK
FYKHSMKFVA ALSVLALLGT IYSIFILYRN RVPLNEIVIR ALDLVTVVVP PALPAAMTVC
TLYAQSRLRR QGIFCIHPLR INLGGKLQLV CFDKTGTLTE DGLDVMGVVP LKGQAFLPLV
PEPRRLPVGP LLRALATCHA LSRLQDTPVG DPMDLKMVES TGWVLEEEPA ADSAFGTQVL
AVMRPPLWEP QLQAMEEPPV PVSVLHRFPF SSALQRMSVV VAWPGATQPE AYVKGSPELV
AGLCNPETVP TDFAQMLQSY TAAGYRVVAL ASKPLPTVPS LEAAQQLTRD TVEGDLSLLG
LLVMRNLLKP QTTPVIQALR RTRIRAVMVT GDNLQTAVTV ARGCGMVAPQ EHLIIVHATH
PERGQPASLE FLPMESPTAV NGVKDPDQAA SYTVEPDPRS RHLALSGPTF GIIVKHFPKL
LPKVLVQGTV FARMAPEQKT ELVCELQKLQ YCVGMCGDGA NDCGALKAAD VGISLSQAEA
SVVSPFTSSM ASIECVPMVI REGRCSLDTS FSVFKYMALY SLTQFISVLI LYTINTNLGD
LQFLAIDLVI TTTVAVLMSR TGPALVLGRV RPPGALLSVP VLSSLLLQMV LVTGVQLGGY
FLTLAQPWFV PLNRTVAAPD NLPNYENTVV FSLSSFQYRI LAAAVSKGAP FRRPLYTNVP
FLVALALLSS VLVGLVLVPG LLQGPLALRN ITDTGFKLLL LGLVTLNFVG AFMLESVLDQ
CLPACLRRLR PKRASKKRFK QLERELAEQP WPPLPAGPLR *

speed

1.07 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999896809134182 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM116828)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:17313359A>CN/A show variant in all transcripts IGV

HGNC symbol

ATP13A2

Ensembl transcript ID

ENST00000452699

Genbank transcript ID

NM_001141973

UniProt peptide

Q9NQ11

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3161T>G
cDNA.3351T>G
g.25065T>G

AA changes

L1054R Score: 102 explain score(s)

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

1054

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.659	1
	3.869	1
(flanking)	1.841	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	25056	wt: 0.2909 / mu: 0.2990 (marginal change - not scored)	wt: GGTCTTCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTG mu: GGTCTTCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTG	gctt\|CCAG
Acc increased	25058	wt: 0.61 / mu: 0.70	wt: TCTTCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCA mu: TCTTCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCA	ttcc\|AGTA
Acc marginally increased	25059	wt: 0.9520 / mu: 0.9576 (marginal change - not scored)	wt: CTTCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAG mu: CTTCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAG	tcca\|GTAC
Acc increased	25061	wt: 0.42 / mu: 0.49	wt: TCTCTCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAGCC mu: TCTCTCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAGCC	cagt\|ACCT
Donor gained	25059	0.90	mu: CTTCCAGTACCGCAT	TCCA\|gtac

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1054

mutated

not conserved

1054

Ptroglodytes

all identical

ENSPTRG00000000241

964

Mmulatta

all identical

ENSMMUG00000001610

1058

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000036622

1048

Ggallus

no alignment

ENSGALG00000003774

n/a

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000061890

1038

Dmelanogaster

all conserved

FBgn0052000

1294

Celegans

all conserved

W08D2.5

1062

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1047	1066	TRANSMEM	Helical; (Potential).	lost
1067	1079	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1080	1097	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1098	1113	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1114	1134	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1135	1180	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3528 / 3528

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

1176 / 1176

position of stopcodon in wt / mu cDNA

3718 / 3718

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

191 / 191

chromosome

strand

-1

last intron/exon boundary

3581

theoretical NMD boundary in CDS

3340

length of CDS

3528

coding sequence (CDS) position

3161

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

3351

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

25065

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

17313359

original gDNA sequence snippet

TCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAGCCGTGT

altered gDNA sequence snippet

TCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAGCCGTGT

original cDNA sequence snippet

TCTGTCCAGCTTCCAGTACCTCATCCTGGCTGCAGCCGTGT

altered cDNA sequence snippet

TCTGTCCAGCTTCCAGTACCGCATCCTGGCTGCAGCCGTGT

wildtype AA sequence

MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI
PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS
PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAKRVLRY YLFQGQRYIW IETQQAFYQV
SLLDHGRSCD DVHRSRHGLS LQDQMVRKAI YGPNVISIPV KSYPQLLVDE ALNPYYGFQA
FSIALWLADH YYWYALCIFL ISSISICLSL YKTRKQSQTL RDMVKLSMRV CVCRPGGEEE
WVDSSELVPG DCLVLPQEGG LMPCDAALVA GECMVNESSL TGESIPVLKT ALPEGLGPYC
AETHRRHTLF CGTLILQARA YVGPHVLAVV TRTGFCTAKG GLVSSILHPR PINFKFYKHS
MKFVAALSVL ALLGTIYSIF ILYRNRVPLN EIVIRALDLV TVVVPPALPA AMTVCTLYAQ
SRLRRQGIFC IHPLRINLGG KLQLVCFDKT GTLTEDGLDV MGVVPLKGQA FLPLVPEPRR
LPVGPLLRAL ATCHALSRLQ DTPVGDPMDL KMVESTGWVL EEEPAADSAF GTQVLAVMRP
PLWEPQLQAM EEPPVPVSVL HRFPFSSALQ RMSVVVAWPG ATQPEAYVKG SPELVAGLCN
PETVPTDFAQ MLQSYTAAGY RVVALASKPL PTVPSLEAAQ QLTRDTVEGD LSLLGLLVMR
NLLKPQTTPV IQALRRTRIR AVMVTGDNLQ TAVTVARGCG MVAPQEHLII VHATHPERGQ
PASLEFLPME SPTAVNGVKD PDQAASYTVE PDPRSRHLAL SGPTFGIIVK HFPKLLPKVL
VQGTVFARMA PEQKTELVCE LQKLQYCVGM CGDGANDCGA LKAADVGISL SQAEASVVSP
FTSSMASIEC VPMVIREGRC SLDTSFSVFK YMALYSLTQF ISVLILYTIN TNLGDLQFLA
IDLVITTTVA VLMSRTGPAL VLGRVRPPGA LLSVPVLSSL LLQMVLVTGV QLGGYFLTLA
QPWFVPLNRT VAAPDNLPNY ENTVVFSLSS FQYLILAAAV SKGAPFRRPL YTNVPFLVAL
ALLSSVLVGL VLVPGLLQGP LALRNITDTG FKLLLLGLVT LNFVGAFMLE SVLDQCLPAC
LRRLRPKRAS KKRFKQLERE LAEQPWPPLP AGPLR*

mutated AA sequence

MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI
PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS
PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAKRVLRY YLFQGQRYIW IETQQAFYQV
SLLDHGRSCD DVHRSRHGLS LQDQMVRKAI YGPNVISIPV KSYPQLLVDE ALNPYYGFQA
FSIALWLADH YYWYALCIFL ISSISICLSL YKTRKQSQTL RDMVKLSMRV CVCRPGGEEE
WVDSSELVPG DCLVLPQEGG LMPCDAALVA GECMVNESSL TGESIPVLKT ALPEGLGPYC
AETHRRHTLF CGTLILQARA YVGPHVLAVV TRTGFCTAKG GLVSSILHPR PINFKFYKHS
MKFVAALSVL ALLGTIYSIF ILYRNRVPLN EIVIRALDLV TVVVPPALPA AMTVCTLYAQ
SRLRRQGIFC IHPLRINLGG KLQLVCFDKT GTLTEDGLDV MGVVPLKGQA FLPLVPEPRR
LPVGPLLRAL ATCHALSRLQ DTPVGDPMDL KMVESTGWVL EEEPAADSAF GTQVLAVMRP
PLWEPQLQAM EEPPVPVSVL HRFPFSSALQ RMSVVVAWPG ATQPEAYVKG SPELVAGLCN
PETVPTDFAQ MLQSYTAAGY RVVALASKPL PTVPSLEAAQ QLTRDTVEGD LSLLGLLVMR
NLLKPQTTPV IQALRRTRIR AVMVTGDNLQ TAVTVARGCG MVAPQEHLII VHATHPERGQ
PASLEFLPME SPTAVNGVKD PDQAASYTVE PDPRSRHLAL SGPTFGIIVK HFPKLLPKVL
VQGTVFARMA PEQKTELVCE LQKLQYCVGM CGDGANDCGA LKAADVGISL SQAEASVVSP
FTSSMASIEC VPMVIREGRC SLDTSFSVFK YMALYSLTQF ISVLILYTIN TNLGDLQFLA
IDLVITTTVA VLMSRTGPAL VLGRVRPPGA LLSVPVLSSL LLQMVLVTGV QLGGYFLTLA
QPWFVPLNRT VAAPDNLPNY ENTVVFSLSS FQYRILAAAV SKGAPFRRPL YTNVPFLVAL
ALLSSVLVGL VLVPGLLQGP LALRNITDTG FKLLLLGLVT LNFVGAFMLE SVLDQCLPAC
LRRLRPKRAS KKRFKQLERE LAEQPWPPLP AGPLR*

speed

0.99 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