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: ENST00000257555
Querying Taster for transcript #2: ENST00000535125
Querying Taster for transcript #3: ENST00000541395
Querying Taster for transcript #4: ENST00000544413
MT speed 0 s - this script 4.780978 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
HNF1A	polymorphism_automatic	0.000130735609815025	simple_aae		affected		S379N	single base exchange	rs2464196		show file
HNF1A	polymorphism_automatic	0.984194557526253	simple_aae		affected		S487N	single base exchange	rs2464196		show file
HNF1A	polymorphism_automatic	0.984194557526253	simple_aae		affected		S487N	single base exchange	rs2464196		show file
HNF1A	polymorphism_automatic	0.984194557526253	simple_aae		affected		S487N	single base exchange	rs2464196		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999869264390185 (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 CM067474)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:121435427G>AN/A show variant in all transcripts IGV

HGNC symbol

HNF1A

Ensembl transcript ID

ENST00000535125

Genbank transcript ID

N/A

UniProt peptide

P20823

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1136G>A
cDNA.1279G>A
g.19082G>A

AA changes

S379N Score: 46 explain score(s)

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

379

frameshift

known variant

Reference ID: rs2464196

database	homozygous (A/A)	heterozygous	allele carriers
1000G	297	997	1294
ExAC	6789	19189	25978

known disease mutation at this position, please check HGMD for details (HGMD ID CM067474)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.801	0.98
	0.921	0.943
(flanking)	-0.544	0.863

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	19091	wt: 0.3963 / mu: 0.4425 (marginal change - not scored)	wt: TGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGC mu: TGTGACCCAGAACCCCTTCATGGCCACCATGGCTCAGCTGC	tcat\|GGCC
Donor increased	19086	wt: 0.42 / mu: 0.74	wt: AGCCCCTTCATGGCC mu: AACCCCTTCATGGCC	CCCC\|ttca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

379

mutated

all conserved

379

Ptroglodytes

not conserved

ENSPTRG00000005551

411

PGEPA

Mmulatta

no homologue

Fcatus

all conserved

ENSFCAG00000009638

370

ATGGPLPP

Mmusculus

not conserved

ENSMUSG00000029556

369

TGGPLPP

Ggallus

all identical

ENSGALG00000006968

491

Trubripes

not conserved

ENSTRUG00000016222

344

Drerio

all identical

ENSDARG00000009470

437

Dmelanogaster

no homologue

Celegans

all conserved

F54A5.1

237

EIANA

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1572 / 1572

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

524 / 524

position of stopcodon in wt / mu cDNA

1715 / 1715

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

144 / 144

chromosome

strand

last intron/exon boundary

1588

theoretical NMD boundary in CDS

1394

length of CDS

1572

coding sequence (CDS) position

1136

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

1279

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

19082

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

121435427

original gDNA sequence snippet

GCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGG

altered gDNA sequence snippet

GCAGAGCCATGTGACCCAGAACCCCTTCATGGCCACCATGG

original cDNA sequence snippet

GCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGG

altered cDNA sequence snippet

GCAGAGCCATGTGACCCAGAACCCCTTCATGGCCACCATGG

wildtype AA sequence

MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
CIQRGVSPSQ AQGLGSNLVT EVSAAGGPLP PVSTLTALHS LEQTSPGLNQ QPQNLIMASL
PGVMTIGPGE PASLGPTFTN TGASTLVIGL ASTQAQSVPV INSMGSSLTT LQPVQFSQPL
HPSYQQPLMP PVQSHVTQSP FMATMAQLQS PHALYSHKPE VAQYTHTGLL PQTMLITDTT
NLSALASLTP TKQVFTSDTE ASSESGLHTP ASQATTLHVP SQDPASIQHL QPAHRLSASP
TVSSSSLVLY QSSDSSNGQS HLLPSNHSVI ETFISTQMAS SSQ*

mutated AA sequence

MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
CIQRGVSPSQ AQGLGSNLVT EVSAAGGPLP PVSTLTALHS LEQTSPGLNQ QPQNLIMASL
PGVMTIGPGE PASLGPTFTN TGASTLVIGL ASTQAQSVPV INSMGSSLTT LQPVQFSQPL
HPSYQQPLMP PVQSHVTQNP FMATMAQLQS PHALYSHKPE VAQYTHTGLL PQTMLITDTT
NLSALASLTP TKQVFTSDTE ASSESGLHTP ASQATTLHVP SQDPASIQHL QPAHRLSASP
TVSSSSLVLY QSSDSSNGQS HLLPSNHSVI ETFISTQMAS SSQ*

speed

1.06 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: 0.0158054424737475 (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 CM067474)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:121435427G>AN/A show variant in all transcripts IGV

HGNC symbol

HNF1A

Ensembl transcript ID

ENST00000257555

Genbank transcript ID

NM_000545

UniProt peptide

P20823

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1460G>A
cDNA.1686G>A
g.19082G>A

AA changes

S487N Score: 46 explain score(s)

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

487

frameshift

known variant

Reference ID: rs2464196

database	homozygous (A/A)	heterozygous	allele carriers
1000G	297	997	1294
ExAC	6789	19189	25978

known disease mutation at this position, please check HGMD for details (HGMD ID CM067474)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.801	0.98
	0.921	0.943
(flanking)	-0.544	0.863

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	19091	wt: 0.3963 / mu: 0.4425 (marginal change - not scored)	wt: TGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGC mu: TGTGACCCAGAACCCCTTCATGGCCACCATGGCTCAGCTGC	tcat\|GGCC
Donor increased	19086	wt: 0.42 / mu: 0.74	wt: AGCCCCTTCATGGCC mu: AACCCCTTCATGGCC	CCCC\|ttca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

487

mutated

all conserved

487

Ptroglodytes

all identical

ENSPTRG00000005551

487

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000009638

488

Mmusculus

all identical

ENSMUSG00000029556

486

Ggallus

all identical

ENSGALG00000006968

491

Trubripes

all identical

ENSTRUG00000016222

446

Drerio

all identical

ENSDARG00000009470

437

Dmelanogaster

no homologue

Celegans

all conserved

F54A5.1

237

EIANA

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

position of stopcodon in wt / mu cDNA

2122 / 2122

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

227 / 227

chromosome

strand

last intron/exon boundary

1995

theoretical NMD boundary in CDS

1718

length of CDS

1896

coding sequence (CDS) position

1460

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

1686

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

19082

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

121435427

original gDNA sequence snippet

GCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGG

altered gDNA sequence snippet

GCAGAGCCATGTGACCCAGAACCCCTTCATGGCCACCATGG

original cDNA sequence snippet

GCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGG

altered cDNA sequence snippet

GCAGAGCCATGTGACCCAGAACCCCTTCATGGCCACCATGG

wildtype AA sequence

MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH
SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA
SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV
QSHVTQSPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK
QVFTSDTEAS SESGLHTPAS QATTLHVPSQ DPASIQHLQP AHRLSASPTV SSSSLVLYQS
SDSSNGQSHL LPSNHSVIET FISTQMASSS Q*

mutated AA sequence

MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH
SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA
SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV
QSHVTQNPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK
QVFTSDTEAS SESGLHTPAS QATTLHVPSQ DPASIQHLQP AHRLSASPTV SSSSLVLYQS
SDSSNGQSHL LPSNHSVIET FISTQMASSS Q*

speed

0.87 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0158054424737475 (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 CM067474)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:121435427G>AN/A show variant in all transcripts IGV

HGNC symbol

HNF1A

Ensembl transcript ID

ENST00000541395

Genbank transcript ID

N/A

UniProt peptide

P20823

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1460G>A
cDNA.1483G>A
g.19082G>A

AA changes

S487N Score: 46 explain score(s)

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

487

frameshift

known variant

Reference ID: rs2464196

database	homozygous (A/A)	heterozygous	allele carriers
1000G	297	997	1294
ExAC	6789	19189	25978

known disease mutation at this position, please check HGMD for details (HGMD ID CM067474)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.801	0.98
	0.921	0.943
(flanking)	-0.544	0.863

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	19091	wt: 0.3963 / mu: 0.4425 (marginal change - not scored)	wt: TGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGC mu: TGTGACCCAGAACCCCTTCATGGCCACCATGGCTCAGCTGC	tcat\|GGCC
Donor increased	19086	wt: 0.42 / mu: 0.74	wt: AGCCCCTTCATGGCC mu: AACCCCTTCATGGCC	CCCC\|ttca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

487

mutated

all conserved

487

Ptroglodytes

all identical

ENSPTRG00000005551

487

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000009638

488

Mmusculus

all identical

ENSMUSG00000029556

486

Ggallus

all identical

ENSGALG00000006968

491

Trubripes

all identical

ENSTRUG00000016222

446

Drerio

all identical

ENSDARG00000009470

437

Dmelanogaster

no homologue

Celegans

all conserved

F54A5.1

237

EIANA

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1989 / 1989

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

663 / 663

position of stopcodon in wt / mu cDNA

2012 / 2012

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

24 / 24

chromosome

strand

last intron/exon boundary

1885

theoretical NMD boundary in CDS

1811

length of CDS

1989

coding sequence (CDS) position

1460

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

1483

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

19082

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

121435427

original gDNA sequence snippet

GCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGG

altered gDNA sequence snippet

GCAGAGCCATGTGACCCAGAACCCCTTCATGGCCACCATGG

original cDNA sequence snippet

GCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGG

altered cDNA sequence snippet

GCAGAGCCATGTGACCCAGAACCCCTTCATGGCCACCATGG

wildtype AA sequence

MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH
SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA
SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV
QSHVTQSPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK
QVRSRPAGPP LACDRAPHPH IPRAQEAALL PQVFTSDTEA SSESGLHTPA SQATTLHVPS
QDPASIQHLQ PAHRLSASPT VSSSSLVLYQ SSDSSNGQSH LLPSNHSVIE TFISTQMASS
SQ*

mutated AA sequence

MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH
SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA
SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV
QSHVTQNPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK
QVRSRPAGPP LACDRAPHPH IPRAQEAALL PQVFTSDTEA SSESGLHTPA SQATTLHVPS
QDPASIQHLQ PAHRLSASPT VSSSSLVLYQ SSDSSNGQSH LLPSNHSVIE TFISTQMASS
SQ*

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0158054424737475 (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 CM067474)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:121435427G>AN/A show variant in all transcripts IGV

HGNC symbol

HNF1A

Ensembl transcript ID

ENST00000544413

Genbank transcript ID

N/A

UniProt peptide

P20823

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1460G>A
cDNA.1480G>A
g.19082G>A

AA changes

S487N Score: 46 explain score(s)

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

487

frameshift

known variant

Reference ID: rs2464196

database	homozygous (A/A)	heterozygous	allele carriers
1000G	297	997	1294
ExAC	6789	19189	25978

known disease mutation at this position, please check HGMD for details (HGMD ID CM067474)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.801	0.98
	0.921	0.943
(flanking)	-0.544	0.863

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	19091	wt: 0.3963 / mu: 0.4425 (marginal change - not scored)	wt: TGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGC mu: TGTGACCCAGAACCCCTTCATGGCCACCATGGCTCAGCTGC	tcat\|GGCC
Donor increased	19086	wt: 0.42 / mu: 0.74	wt: AGCCCCTTCATGGCC mu: AACCCCTTCATGGCC	CCCC\|ttca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

487

mutated

all conserved

487

Ptroglodytes

all identical

ENSPTRG00000005551

487

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000009638

488

Mmusculus

all identical

ENSMUSG00000029556

486

Ggallus

all identical

ENSGALG00000006968

491

Trubripes

all identical

ENSTRUG00000016222

446

Drerio

all identical

ENSDARG00000009470

437

Dmelanogaster

no homologue

Celegans

all conserved

F54A5.1

237

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1917 / 1917

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

639 / 639

position of stopcodon in wt / mu cDNA

1937 / 1937

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

21 / 21

chromosome

strand

last intron/exon boundary

1810

theoretical NMD boundary in CDS

1739

length of CDS

1917

coding sequence (CDS) position

1460

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

1480

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

19082

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

121435427

original gDNA sequence snippet

GCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGG

altered gDNA sequence snippet

GCAGAGCCATGTGACCCAGAACCCCTTCATGGCCACCATGG

original cDNA sequence snippet

GCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGG

altered cDNA sequence snippet

GCAGAGCCATGTGACCCAGAACCCCTTCATGGCCACCATGG

wildtype AA sequence

MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH
SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA
SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV
QSHVTQSPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK
QEAALLPQVF TSDTEASSES GLHTPASQAT TLHVPSQDPA SIQHLQPAHR LSASPTVSSS
SLVLYQSSDS SNGQSHLLPS NHSVIETFIS TQMASSSQ*

mutated AA sequence

MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH
SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA
SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV
QSHVTQNPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK
QEAALLPQVF TSDTEASSES GLHTPASQAT TLHVPSQDPA SIQHLQPAHR LSASPTVSSS
SLVLYQSSDS SNGQSHLLPS NHSVIETFIS TQMASSSQ*

speed

0.86 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