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: ENST00000261304
Querying Taster for transcript #2: ENST00000544807
Querying Taster for transcript #3: ENST00000393569
Querying Taster for transcript #4: ENST00000393568
MT speed 0 s - this script 4.76045 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
GALC	polymorphism_automatic	0.00759533359900799	simple_aae		affected		I562T	single base exchange	rs398607		show file
GALC	polymorphism_automatic	0.00759533359900799	simple_aae		affected		I506T	single base exchange	rs398607		show file
GALC	polymorphism_automatic	0.00759533359900799	simple_aae		affected		I536T	single base exchange	rs398607		show file
GALC	polymorphism_automatic	0.00759533359900799	simple_aae		affected		I539T	single base exchange	rs398607		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.992404666400992 (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 CM140252)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:88407888A>GN/A show variant in all transcripts IGV

HGNC symbol

GALC

Ensembl transcript ID

ENST00000261304

Genbank transcript ID

NM_000153

UniProt peptide

P54803

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1685T>C
cDNA.1792T>C
g.52122T>C

AA changes

I562T Score: 89 explain score(s)

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

562

frameshift

known variant

Reference ID: rs398607

database	homozygous (G/G)	heterozygous	allele carriers
1000G	553	1135	1688
ExAC	12358	8051	20409

known disease mutation at this position, please check HGMD for details (HGMD ID CM140252)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.867	0
	5.125	0.441
(flanking)	0.283	0.334

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	52112	wt: 0.2919 / mu: 0.3121 (marginal change - not scored)	wt: CCGTTTTATTTTGCAGGACCAATCTGACTATAAAGTGTGAT mu: CCGTTTTATTTTGCAGGACCAATCTGACTACAAAGTGTGAT	acca\|ATCT
Donor increased	52113	wt: 0.24 / mu: 0.26	wt: GACCAATCTGACTAT mu: GACCAATCTGACTAC	CCAA\|tctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

562

mutated

not conserved

562

Ptroglodytes

all identical

ENSPTRG00000006602

539

Mmulatta

all identical

ENSMMUG00000017261

562

Fcatus

no alignment

ENSFCAG00000003064

n/a

Mmusculus

all conserved

ENSMUSG00000021003

561

Ggallus

all conserved

ENSGALG00000010593

523

Trubripes

all conserved

ENSTRUG00000008387

547

Drerio

all conserved

ENSDARG00000016474

542

Dmelanogaster

no homologue

Celegans

all conserved

C29E4.10

423

Xtropicalis

all conserved

ENSXETG00000016608

553

protein features

start (aa)	end (aa)	feature	details
559	559	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
602	602	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2058 / 2058

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

686 / 686

position of stopcodon in wt / mu cDNA

2165 / 2165

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

108 / 108

chromosome

strand

-1

last intron/exon boundary

2019

theoretical NMD boundary in CDS

1861

length of CDS

2058

coding sequence (CDS) position

1685

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

1792

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

52122

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

88407888

original gDNA sequence snippet

TTGCAGGACCAATCTGACTATAAAGTGTGATGTATACATAG

altered gDNA sequence snippet

TTGCAGGACCAATCTGACTACAAAGTGTGATGTATACATAG

original cDNA sequence snippet

CAACTGGACCAATCTGACTATAAAGTGTGATGTATACATAG

altered cDNA sequence snippet

CAACTGGACCAATCTGACTACAAAGTGTGATGTATACATAG

wildtype AA sequence

MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA
VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYA
LDENYFRGYE WWLMKEAKKR NPNITLIGLP WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV
GAKRYHDLDI DYIGIWNERS YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD
AELFKVVDVI GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY
MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF TQPGWYYLKT
VGHLEKGGSY VALTDGLGNL TIIIETMSHK HSKCIRPFLP YFNVSQQFAT FVLKGSFSEI
PELQVWYTKL GKTSERFLFK QLDSLWLLDS DGSFTLSLHE DELFTLTTLT TGRKGSYPLP
PKSQPFPSTY KDDFNVDYPF FSEAPNFADQ TGVFEYFTNI EDPGEHHFTL RQVLNQRPIT
WAADASNTIS IIGDYNWTNL TIKCDVYIET PDTGGVFIAG RVNKGGILIR SARGIFFWIF
ANGSYRVTGD LAGWIIYALG RVEVTAKKWY TLTLTIKGHF TSGMLNDKSL WTDIPVNFPK
NGWAAIGTHS FEFAQFDNFL VEATR*

mutated AA sequence

MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA
VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYA
LDENYFRGYE WWLMKEAKKR NPNITLIGLP WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV
GAKRYHDLDI DYIGIWNERS YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD
AELFKVVDVI GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY
MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF TQPGWYYLKT
VGHLEKGGSY VALTDGLGNL TIIIETMSHK HSKCIRPFLP YFNVSQQFAT FVLKGSFSEI
PELQVWYTKL GKTSERFLFK QLDSLWLLDS DGSFTLSLHE DELFTLTTLT TGRKGSYPLP
PKSQPFPSTY KDDFNVDYPF FSEAPNFADQ TGVFEYFTNI EDPGEHHFTL RQVLNQRPIT
WAADASNTIS IIGDYNWTNL TTKCDVYIET PDTGGVFIAG RVNKGGILIR SARGIFFWIF
ANGSYRVTGD LAGWIIYALG RVEVTAKKWY TLTLTIKGHF TSGMLNDKSL WTDIPVNFPK
NGWAAIGTHS FEFAQFDNFL VEATR*

speed

1.04 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: 0.992404666400992 (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 CM140252)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:88407888A>GN/A show variant in all transcripts IGV

HGNC symbol

GALC

Ensembl transcript ID

ENST00000544807

Genbank transcript ID

N/A

UniProt peptide

P54803

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1517T>C
cDNA.2025T>C
g.52122T>C

AA changes

I506T Score: 89 explain score(s)

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

506

frameshift

known variant

Reference ID: rs398607

database	homozygous (G/G)	heterozygous	allele carriers
1000G	553	1135	1688
ExAC	12358	8051	20409

known disease mutation at this position, please check HGMD for details (HGMD ID CM140252)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.867	0
	5.125	0.441
(flanking)	0.283	0.334

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	52112	wt: 0.2919 / mu: 0.3121 (marginal change - not scored)	wt: CCGTTTTATTTTGCAGGACCAATCTGACTATAAAGTGTGAT mu: CCGTTTTATTTTGCAGGACCAATCTGACTACAAAGTGTGAT	acca\|ATCT
Donor increased	52113	wt: 0.24 / mu: 0.26	wt: GACCAATCTGACTAT mu: GACCAATCTGACTAC	CCAA\|tctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

506

mutated

not conserved

506

Ptroglodytes

all identical

ENSPTRG00000006602

539

Mmulatta

all identical

ENSMMUG00000017261

562

Fcatus

no alignment

ENSFCAG00000003064

n/a

Mmusculus

all conserved

ENSMUSG00000021003

561

Ggallus

all conserved

ENSGALG00000010593

523

Trubripes

all conserved

ENSTRUG00000008387

547

Drerio

all conserved

ENSDARG00000016474

542

Dmelanogaster

no homologue

Celegans

all conserved

C29E4.10

421

Xtropicalis

all conserved

ENSXETG00000016608

553

protein features

start (aa)	end (aa)	feature	details
556	556	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
559	559	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
602	602	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1770 / 1770

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

590 / 590

position of stopcodon in wt / mu cDNA

2278 / 2278

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

509 / 509

chromosome

strand

-1

last intron/exon boundary

2252

theoretical NMD boundary in CDS

1693

length of CDS

1770

coding sequence (CDS) position

1517

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

2025

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

52122

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

88407888

original gDNA sequence snippet

TTGCAGGACCAATCTGACTATAAAGTGTGATGTATACATAG

altered gDNA sequence snippet

TTGCAGGACCAATCTGACTACAAAGTGTGATGTATACATAG

original cDNA sequence snippet

CAACTGGACCAATCTGACTATAAAGTGTGATGTATACATAG

altered cDNA sequence snippet

CAACTGGACCAATCTGACTACAAAGTGTGATGTATACATAG

wildtype AA sequence

MGFMVADLWA TSRLLVNYPE PYRSQILDYL FKPNFGASLH ILKVEIGGDG QTTDGTEPSH
MHYALDENYF RGYEWWLMKE AKKRNPNITL IGLPWSFPGW LGKGFDWPYV NLQLTAYYVV
TWIVGAKRYH DLDIDYIGIW NERSYNANYI KILRKMLNYQ GLQRVKIIAS DNLWESISAS
MLLDAELFKV VDVIGAHYPG THSAKDAKLT GKKLWSSEDF STLNSDMGAG CWGRILNQNY
INGYMTSTIA WNLVASYYEQ LPYGRCGLMT AQEPWSGHYV VESPVWVSAH TTQFTQPGWY
YLKTVGHLEK GGSYVALTDG LGNLTIIIET MSHKHSKCIR PFLPYFNVSQ QFATFVLKGS
FSEIPELQVW YTKLGKTSER FLFKQLDSLW LLDSDGSFTL SLHEDELFTL TTLTTGRKGS
YPLPPKSQPF PSTYKDDFNV DYPFFSEAPN FADQTGVFEY FTNIEDPGEH HFTLRQVLNQ
RPITWAADAS NTISIIGDYN WTNLTIKCDV YIETPDTGGV FIAGRVNKGG ILIRSARGIF
FWIFANGSYR VTGDLAGWII YALGRVEVTA KKWYTLTLTI KVAGRRKKT*

mutated AA sequence

MGFMVADLWA TSRLLVNYPE PYRSQILDYL FKPNFGASLH ILKVEIGGDG QTTDGTEPSH
MHYALDENYF RGYEWWLMKE AKKRNPNITL IGLPWSFPGW LGKGFDWPYV NLQLTAYYVV
TWIVGAKRYH DLDIDYIGIW NERSYNANYI KILRKMLNYQ GLQRVKIIAS DNLWESISAS
MLLDAELFKV VDVIGAHYPG THSAKDAKLT GKKLWSSEDF STLNSDMGAG CWGRILNQNY
INGYMTSTIA WNLVASYYEQ LPYGRCGLMT AQEPWSGHYV VESPVWVSAH TTQFTQPGWY
YLKTVGHLEK GGSYVALTDG LGNLTIIIET MSHKHSKCIR PFLPYFNVSQ QFATFVLKGS
FSEIPELQVW YTKLGKTSER FLFKQLDSLW LLDSDGSFTL SLHEDELFTL TTLTTGRKGS
YPLPPKSQPF PSTYKDDFNV DYPFFSEAPN FADQTGVFEY FTNIEDPGEH HFTLRQVLNQ
RPITWAADAS NTISIIGDYN WTNLTTKCDV YIETPDTGGV FIAGRVNKGG ILIRSARGIF
FWIFANGSYR VTGDLAGWII YALGRVEVTA KKWYTLTLTI KVAGRRKKT*

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.992404666400992 (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 CM140252)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:88407888A>GN/A show variant in all transcripts IGV

HGNC symbol

GALC

Ensembl transcript ID

ENST00000393569

Genbank transcript ID

NM_001201402

UniProt peptide

P54803

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1607T>C
cDNA.1773T>C
g.52122T>C

AA changes

I536T Score: 89 explain score(s)

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

536

frameshift

known variant

Reference ID: rs398607

database	homozygous (G/G)	heterozygous	allele carriers
1000G	553	1135	1688
ExAC	12358	8051	20409

known disease mutation at this position, please check HGMD for details (HGMD ID CM140252)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.867	0
	5.125	0.441
(flanking)	0.283	0.334

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	52112	wt: 0.2919 / mu: 0.3121 (marginal change - not scored)	wt: CCGTTTTATTTTGCAGGACCAATCTGACTATAAAGTGTGAT mu: CCGTTTTATTTTGCAGGACCAATCTGACTACAAAGTGTGAT	acca\|ATCT
Donor increased	52113	wt: 0.24 / mu: 0.26	wt: GACCAATCTGACTAT mu: GACCAATCTGACTAC	CCAA\|tctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

536

mutated

not conserved

536

Ptroglodytes

all identical

ENSPTRG00000006602

539

Mmulatta

all identical

ENSMMUG00000017261

562

Fcatus

no alignment

ENSFCAG00000003064

n/a

Mmusculus

all conserved

ENSMUSG00000021003

561

Ggallus

all conserved

ENSGALG00000010593

523

Trubripes

all conserved

ENSTRUG00000008387

547

Drerio

all conserved

ENSDARG00000016474

542

Dmelanogaster

no homologue

Celegans

all conserved

C29E4.10

421

Xtropicalis

all conserved

ENSXETG00000016608

553

protein features

start (aa)	end (aa)	feature	details
556	556	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
559	559	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
602	602	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1980 / 1980

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

660 / 660

position of stopcodon in wt / mu cDNA

2146 / 2146

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

2000

theoretical NMD boundary in CDS

1783

length of CDS

1980

coding sequence (CDS) position

1607

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

1773

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

52122

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

88407888

original gDNA sequence snippet

TTGCAGGACCAATCTGACTATAAAGTGTGATGTATACATAG

altered gDNA sequence snippet

TTGCAGGACCAATCTGACTACAAAGTGTGATGTATACATAG

original cDNA sequence snippet

CAACTGGACCAATCTGACTATAAAGTGTGATGTATACATAG

altered cDNA sequence snippet

CAACTGGACCAATCTGACTACAAAGTGTGATGTATACATAG

wildtype AA sequence

MLGKSHGRAT HGPLPLADLG IHLPCVKVLH QVTPEEKPAA TSRLLVNYPE PYRSQILDYL
FKPNFGASLH ILKVEIGGDG QTTDGTEPSH MHYALDENYF RGYEWWLMKE AKKRNPNITL
IGLPWSFPGW LGKGFDWPYV NLQLTAYYVV TWIVGAKRYH DLDIDYIGIW NERSYNANYI
KILRKMLNYQ GLQRVKIIAS DNLWESISAS MLLDAELFKV VDVIGAHYPG THSAKDAKLT
GKKLWSSEDF STLNSDMGAG CWGRILNQNY INGYMTSTIA WNLVASYYEQ LPYGRCGLMT
AQEPWSGHYV VESPVWVSAH TTQFTQPGWY YLKTVGHLEK GGSYVALTDG LGNLTIIIET
MSHKHSKCIR PFLPYFNVSQ QFATFVLKGS FSEIPELQVW YTKLGKTSER FLFKQLDSLW
LLDSDGSFTL SLHEDELFTL TTLTTGRKGS YPLPPKSQPF PSTYKDDFNV DYPFFSEAPN
FADQTGVFEY FTNIEDPGEH HFTLRQVLNQ RPITWAADAS NTISIIGDYN WTNLTIKCDV
YIETPDTGGV FIAGRVNKGG ILIRSARGIF FWIFANGSYR VTGDLAGWII YALGRVEVTA
KKWYTLTLTI KGHFTSGMLN DKSLWTDIPV NFPKNGWAAI GTHSFEFAQF DNFLVEATR*

mutated AA sequence

MLGKSHGRAT HGPLPLADLG IHLPCVKVLH QVTPEEKPAA TSRLLVNYPE PYRSQILDYL
FKPNFGASLH ILKVEIGGDG QTTDGTEPSH MHYALDENYF RGYEWWLMKE AKKRNPNITL
IGLPWSFPGW LGKGFDWPYV NLQLTAYYVV TWIVGAKRYH DLDIDYIGIW NERSYNANYI
KILRKMLNYQ GLQRVKIIAS DNLWESISAS MLLDAELFKV VDVIGAHYPG THSAKDAKLT
GKKLWSSEDF STLNSDMGAG CWGRILNQNY INGYMTSTIA WNLVASYYEQ LPYGRCGLMT
AQEPWSGHYV VESPVWVSAH TTQFTQPGWY YLKTVGHLEK GGSYVALTDG LGNLTIIIET
MSHKHSKCIR PFLPYFNVSQ QFATFVLKGS FSEIPELQVW YTKLGKTSER FLFKQLDSLW
LLDSDGSFTL SLHEDELFTL TTLTTGRKGS YPLPPKSQPF PSTYKDDFNV DYPFFSEAPN
FADQTGVFEY FTNIEDPGEH HFTLRQVLNQ RPITWAADAS NTISIIGDYN WTNLTTKCDV
YIETPDTGGV FIAGRVNKGG ILIRSARGIF FWIFANGSYR VTGDLAGWII YALGRVEVTA
KKWYTLTLTI KGHFTSGMLN DKSLWTDIPV NFPKNGWAAI GTHSFEFAQF DNFLVEATR*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.992404666400992 (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 CM140252)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:88407888A>GN/A show variant in all transcripts IGV

HGNC symbol

GALC

Ensembl transcript ID

ENST00000393568

Genbank transcript ID

NM_001201401

UniProt peptide

P54803

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1616T>C
cDNA.1630T>C
g.52122T>C

AA changes

I539T Score: 89 explain score(s)

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

539

frameshift

known variant

Reference ID: rs398607

database	homozygous (G/G)	heterozygous	allele carriers
1000G	553	1135	1688
ExAC	12358	8051	20409

known disease mutation at this position, please check HGMD for details (HGMD ID CM140252)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.867	0
	5.125	0.441
(flanking)	0.283	0.334

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	52112	wt: 0.2919 / mu: 0.3121 (marginal change - not scored)	wt: CCGTTTTATTTTGCAGGACCAATCTGACTATAAAGTGTGAT mu: CCGTTTTATTTTGCAGGACCAATCTGACTACAAAGTGTGAT	acca\|ATCT
Donor increased	52113	wt: 0.24 / mu: 0.26	wt: GACCAATCTGACTAT mu: GACCAATCTGACTAC	CCAA\|tctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

539

mutated

not conserved

539

Ptroglodytes

all identical

ENSPTRG00000006602

539

Mmulatta

all identical

ENSMMUG00000017261

562

Fcatus

no alignment

ENSFCAG00000003064

n/a

Mmusculus

all conserved

ENSMUSG00000021003

561

Ggallus

all conserved

ENSGALG00000010593

523

Trubripes

all conserved

ENSTRUG00000008387

547

Drerio

all conserved

ENSDARG00000016474

542

Dmelanogaster

no homologue

Celegans

all conserved

C29E4.10

421

Xtropicalis

all conserved

ENSXETG00000016608

553

protein features

start (aa)	end (aa)	feature	details
556	556	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
559	559	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
602	602	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

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

2003 / 2003

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

15 / 15

chromosome

strand

-1

last intron/exon boundary

1857

theoretical NMD boundary in CDS

1792

length of CDS

1989

coding sequence (CDS) position

1616

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

1630

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

52122

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

88407888

original gDNA sequence snippet

TTGCAGGACCAATCTGACTATAAAGTGTGATGTATACATAG

altered gDNA sequence snippet

TTGCAGGACCAATCTGACTACAAAGTGTGATGTATACATAG

original cDNA sequence snippet

CAACTGGACCAATCTGACTATAAAGTGTGATGTATACATAG

altered cDNA sequence snippet

CAACTGGACCAATCTGACTACAAAGTGTGATGTATACATAG

wildtype AA sequence

MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA
VSGGGPNFGA SLHILKVEIG GDGQTTDGTE PSHMHYALDE NYFRGYEWWL MKEAKKRNPN
ITLIGLPWSF PGWLGKGFDW PYVNLQLTAY YVVTWIVGAK RYHDLDIDYI GIWNERSYNA
NYIKILRKML NYQGLQRVKI IASDNLWESI SASMLLDAEL FKVVDVIGAH YPGTHSAKDA
KLTGKKLWSS EDFSTLNSDM GAGCWGRILN QNYINGYMTS TIAWNLVASY YEQLPYGRCG
LMTAQEPWSG HYVVESPVWV SAHTTQFTQP GWYYLKTVGH LEKGGSYVAL TDGLGNLTII
IETMSHKHSK CIRPFLPYFN VSQQFATFVL KGSFSEIPEL QVWYTKLGKT SERFLFKQLD
SLWLLDSDGS FTLSLHEDEL FTLTTLTTGR KGSYPLPPKS QPFPSTYKDD FNVDYPFFSE
APNFADQTGV FEYFTNIEDP GEHHFTLRQV LNQRPITWAA DASNTISIIG DYNWTNLTIK
CDVYIETPDT GGVFIAGRVN KGGILIRSAR GIFFWIFANG SYRVTGDLAG WIIYALGRVE
VTAKKWYTLT LTIKGHFTSG MLNDKSLWTD IPVNFPKNGW AAIGTHSFEF AQFDNFLVEA
TR*

mutated AA sequence

MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA
VSGGGPNFGA SLHILKVEIG GDGQTTDGTE PSHMHYALDE NYFRGYEWWL MKEAKKRNPN
ITLIGLPWSF PGWLGKGFDW PYVNLQLTAY YVVTWIVGAK RYHDLDIDYI GIWNERSYNA
NYIKILRKML NYQGLQRVKI IASDNLWESI SASMLLDAEL FKVVDVIGAH YPGTHSAKDA
KLTGKKLWSS EDFSTLNSDM GAGCWGRILN QNYINGYMTS TIAWNLVASY YEQLPYGRCG
LMTAQEPWSG HYVVESPVWV SAHTTQFTQP GWYYLKTVGH LEKGGSYVAL TDGLGNLTII
IETMSHKHSK CIRPFLPYFN VSQQFATFVL KGSFSEIPEL QVWYTKLGKT SERFLFKQLD
SLWLLDSDGS FTLSLHEDEL FTLTTLTTGR KGSYPLPPKS QPFPSTYKDD FNVDYPFFSE
APNFADQTGV FEYFTNIEDP GEHHFTLRQV LNQRPITWAA DASNTISIIG DYNWTNLTTK
CDVYIETPDT GGVFIAGRVN KGGILIRSAR GIFFWIFANG SYRVTGDLAG WIIYALGRVE
VTAKKWYTLT LTIKGHFTSG MLNDKSLWTD IPVNFPKNGW AAIGTHSFEF AQFDNFLVEA
TR*

speed

0.73 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