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: ENST00000337018
Querying Taster for transcript #2: ENST00000330854
Querying Taster for transcript #3: ENST00000452918
Querying Taster for transcript #4: ENST00000456085
MT speed 0 s - this script 3.709222 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SUGP2	polymorphism_automatic	9.99200722162641e-16	simple_aae				G206S	single base exchange	rs4808907		show file
SUGP2	polymorphism_automatic	9.99200722162641e-16	simple_aae				G206S	single base exchange	rs4808907		show file
SUGP2	polymorphism_automatic	9.99200722162641e-16	simple_aae				G206S	single base exchange	rs4808907		show file
SUGP2	polymorphism_automatic	8.88522290187765e-08	without_aae					single base exchange	rs4808907		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:19136541C>TN/A show variant in all transcripts IGV

HGNC symbol

SUGP2

Ensembl transcript ID

ENST00000330854

Genbank transcript ID

N/A

UniProt peptide

Q8IX01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.616G>A
cDNA.681G>A
g.7840G>A

AA changes

G206S Score: 56 explain score(s)

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

206

frameshift

known variant

Reference ID: rs4808907

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1584	777	2361
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.047	0
	-0.53	0
(flanking)	0.319	0

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
Donor marginally increased	7843	wt: 0.9989 / mu: 0.9993 (marginal change - not scored)	wt: GCGGCAGTCAAGTCC mu: GCAGCAGTCAAGTCC	GGCA\|gtca

distance from splice site

495

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

206

mutated

not conserved

206

Ptroglodytes

not conserved

ENSPTRG00000010727

206

Mmulatta

not conserved

ENSMMUG00000019665

207

Fcatus

not conserved

ENSFCAG00000009765

206

Mmusculus

not conserved

ENSMUSG00000036054

200

Ggallus

not conserved

ENSGALG00000003047

208

GNI

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0051550

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3093 / 3093

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

1031 / 1031

position of stopcodon in wt / mu cDNA

3158 / 3158

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

66 / 66

chromosome

strand

-1

last intron/exon boundary

3373

theoretical NMD boundary in CDS

3257

length of CDS

3093

coding sequence (CDS) position

616

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

681

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

7840

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

19136541

original gDNA sequence snippet

CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA

altered gDNA sequence snippet

CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA

original cDNA sequence snippet

CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA

altered cDNA sequence snippet

CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA

wildtype AA sequence

MAARRITQET FDAVLQEKAK RYHMDASGEA VSETLQFKAQ DLLRAVPRSR AEMYDDVHSD
GRYSLSGSVA HSRDAGREGL RSDVFPGPSF RSSNPSISDD SYFRKECGRD LEFSHSDSRD
QVIGHRKLGH FRSQDWKFAL RGSWEQDFGH PVSQESSWSQ EYSFGPSAVL GDFGSSRLIE
KECLEKESRD YDVDHPGEAD SVLRGGSQVQ ARGRALNIVD QEGSLLGKGE TQGLLTAKGG
VGKLVTLRNV STKKIPTVNR ITPKTQGTNQ IQKNTPSPDV TLGTNPGTED IQFPIQKIPL
GLDLKNLRLP RRKMSFDIID KSDVFSRFGI EIIKWAGFHT IKDDIKFSQL FQTLFELETE
TCAKMLASFK CSLKPEHRDF CFFTIKFLKH SALKTPRVDN EFLNMLLDKG AVKTKNCFFE
IIKPFDKYIM RLQDRLLKSV TPLLMACNAY ELSVKMKTLS NPLDLALALE TTNSLCRKSL
ALLGQTFSLA SSFRQEKILE AVGLQDIAPS PAAFPNFEDS TLFGREYIDH LKAWLVSSGC
PLQVKKAEPE PMREEEKMIP PTKPEIQAKA PSSLSDAVPQ RADHRVVGTI DQLVKRVIEG
SLSPKERTLL KEDPAYWFLS DENSLEYKYY KLKLAEMQRM SENLRGADQK PTSADCAVRA
MLYSRAVRNL KKKLLPWQRR GLLRAQGLRG WKARRATTGT QTLLSSGTRL KHHGRQAPGL
SQAKPSLPDR NDAAKDCPPD PVGPSPQDPS LEASGPSPKP AGVDISEAPQ TSSPCPSADI
DMKTMETAEK LARFVAQVGP EIEQFSIENS TDNPDLWFLH DQNSSAFKFY RKKVFELCPS
ICFTSSPHNL HTGGGDTTGS QESPVDLMEG EAEFEDEPPP REAELESPEA SSGTCFPRKR
ISSKSLKVGM IPAPKRVCLI QEPKVHEPVR IAYDRPRGRP MSKKKKPKDL DFAQQKLTDK
NLGFQMLQKM GWKEGHGLGS LGKGIREPVS VGTPSEGEGL GADGQEHKED TFDVFRQRMM
QMYRHKRANK *

mutated AA sequence

MAARRITQET FDAVLQEKAK RYHMDASGEA VSETLQFKAQ DLLRAVPRSR AEMYDDVHSD
GRYSLSGSVA HSRDAGREGL RSDVFPGPSF RSSNPSISDD SYFRKECGRD LEFSHSDSRD
QVIGHRKLGH FRSQDWKFAL RGSWEQDFGH PVSQESSWSQ EYSFGPSAVL GDFGSSRLIE
KECLEKESRD YDVDHPGEAD SVLRGSSQVQ ARGRALNIVD QEGSLLGKGE TQGLLTAKGG
VGKLVTLRNV STKKIPTVNR ITPKTQGTNQ IQKNTPSPDV TLGTNPGTED IQFPIQKIPL
GLDLKNLRLP RRKMSFDIID KSDVFSRFGI EIIKWAGFHT IKDDIKFSQL FQTLFELETE
TCAKMLASFK CSLKPEHRDF CFFTIKFLKH SALKTPRVDN EFLNMLLDKG AVKTKNCFFE
IIKPFDKYIM RLQDRLLKSV TPLLMACNAY ELSVKMKTLS NPLDLALALE TTNSLCRKSL
ALLGQTFSLA SSFRQEKILE AVGLQDIAPS PAAFPNFEDS TLFGREYIDH LKAWLVSSGC
PLQVKKAEPE PMREEEKMIP PTKPEIQAKA PSSLSDAVPQ RADHRVVGTI DQLVKRVIEG
SLSPKERTLL KEDPAYWFLS DENSLEYKYY KLKLAEMQRM SENLRGADQK PTSADCAVRA
MLYSRAVRNL KKKLLPWQRR GLLRAQGLRG WKARRATTGT QTLLSSGTRL KHHGRQAPGL
SQAKPSLPDR NDAAKDCPPD PVGPSPQDPS LEASGPSPKP AGVDISEAPQ TSSPCPSADI
DMKTMETAEK LARFVAQVGP EIEQFSIENS TDNPDLWFLH DQNSSAFKFY RKKVFELCPS
ICFTSSPHNL HTGGGDTTGS QESPVDLMEG EAEFEDEPPP REAELESPEA SSGTCFPRKR
ISSKSLKVGM IPAPKRVCLI QEPKVHEPVR IAYDRPRGRP MSKKKKPKDL DFAQQKLTDK
NLGFQMLQKM GWKEGHGLGS LGKGIREPVS VGTPSEGEGL GADGQEHKED TFDVFRQRMM
QMYRHKRANK *

speed

0.77 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: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:19136541C>TN/A show variant in all transcripts IGV

HGNC symbol

SUGP2

Ensembl transcript ID

ENST00000337018

Genbank transcript ID

NM_014884

UniProt peptide

Q8IX01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.616G>A
cDNA.762G>A
g.7840G>A

AA changes

G206S Score: 56 explain score(s)

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

206

frameshift

known variant

Reference ID: rs4808907

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1584	777	2361
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.047	0
	-0.53	0
(flanking)	0.319	0

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
Donor marginally increased	7843	wt: 0.9989 / mu: 0.9993 (marginal change - not scored)	wt: GCGGCAGTCAAGTCC mu: GCAGCAGTCAAGTCC	GGCA\|gtca

distance from splice site

495

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

206

mutated

not conserved

206

Ptroglodytes

not conserved

ENSPTRG00000010727

206

Mmulatta

not conserved

ENSMMUG00000019665

207

Fcatus

not conserved

ENSFCAG00000009765

206

Mmusculus

not conserved

ENSMUSG00000036054

200

Ggallus

not conserved

ENSGALG00000003047

208

GNI

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0051550

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3249 / 3249

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

1083 / 1083

position of stopcodon in wt / mu cDNA

3395 / 3395

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

147 / 147

chromosome

strand

-1

last intron/exon boundary

3396

theoretical NMD boundary in CDS

3199

length of CDS

3249

coding sequence (CDS) position

616

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

762

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

7840

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

19136541

original gDNA sequence snippet

CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA

altered gDNA sequence snippet

CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA

original cDNA sequence snippet

CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA

altered cDNA sequence snippet

CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA

wildtype AA sequence

MAARRITQET FDAVLQEKAK RYHMDASGEA VSETLQFKAQ DLLRAVPRSR AEMYDDVHSD
GRYSLSGSVA HSRDAGREGL RSDVFPGPSF RSSNPSISDD SYFRKECGRD LEFSHSDSRD
QVIGHRKLGH FRSQDWKFAL RGSWEQDFGH PVSQESSWSQ EYSFGPSAVL GDFGSSRLIE
KECLEKESRD YDVDHPGEAD SVLRGGSQVQ ARGRALNIVD QEGSLLGKGE TQGLLTAKGG
VGKLVTLRNV STKKIPTVNR ITPKTQGTNQ IQKNTPSPDV TLGTNPGTED IQFPIQKIPL
GLDLKNLRLP RRKMSFDIID KSDVFSRFGI EIIKWAGFHT IKDDIKFSQL FQTLFELETE
TCAKMLASFK CSLKPEHRDF CFFTIKFLKH SALKTPRVDN EFLNMLLDKG AVKTKNCFFE
IIKPFDKYIM RLQDRLLKSV TPLLMACNAY ELSVKMKTLS NPLDLALALE TTNSLCRKSL
ALLGQTFSLA SSFRQEKILE AVGLQDIAPS PAAFPNFEDS TLFGREYIDH LKAWLVSSGC
PLQVKKAEPE PMREEEKMIP PTKPEIQAKA PSSLSDAVPQ RADHRVVGTI DQLVKRVIEG
SLSPKERTLL KEDPAYWFLS DENSLEYKYY KLKLAEMQRM SENLRGADQK PTSADCAVRA
MLYSRAVRNL KKKLLPWQRR GLLRAQGLRG WKARRATTGT QTLLSSGTRL KHHGRQAPGL
SQAKPSLPDR NDAAKDCPPD PVGPSPQDPS LEASGPSPKP AGVDISEAPQ TSSPCPSADI
DMKTMETAEK LARFVAQVGP EIEQFSIENS TDNPDLWFLH DQNSSAFKFY RKKVFELCPS
ICFTSSPHNL HTGGGDTTGS QESPVDLMEG EAEFEDEPPP REAELESPEV MPEEEDEDDE
DGGEEAPAPG GAGKSEGSTP ADGLPGEAAE DDLAGAPALS QASSGTCFPR KRISSKSLKV
GMIPAPKRVC LIQEPKVHEP VRIAYDRPRG RPMSKKKKPK DLDFAQQKLT DKNLGFQMLQ
KMGWKEGHGL GSLGKGIREP VSVGTPSEGE GLGADGQEHK EDTFDVFRQR MMQMYRHKRA
NK*

mutated AA sequence

MAARRITQET FDAVLQEKAK RYHMDASGEA VSETLQFKAQ DLLRAVPRSR AEMYDDVHSD
GRYSLSGSVA HSRDAGREGL RSDVFPGPSF RSSNPSISDD SYFRKECGRD LEFSHSDSRD
QVIGHRKLGH FRSQDWKFAL RGSWEQDFGH PVSQESSWSQ EYSFGPSAVL GDFGSSRLIE
KECLEKESRD YDVDHPGEAD SVLRGSSQVQ ARGRALNIVD QEGSLLGKGE TQGLLTAKGG
VGKLVTLRNV STKKIPTVNR ITPKTQGTNQ IQKNTPSPDV TLGTNPGTED IQFPIQKIPL
GLDLKNLRLP RRKMSFDIID KSDVFSRFGI EIIKWAGFHT IKDDIKFSQL FQTLFELETE
TCAKMLASFK CSLKPEHRDF CFFTIKFLKH SALKTPRVDN EFLNMLLDKG AVKTKNCFFE
IIKPFDKYIM RLQDRLLKSV TPLLMACNAY ELSVKMKTLS NPLDLALALE TTNSLCRKSL
ALLGQTFSLA SSFRQEKILE AVGLQDIAPS PAAFPNFEDS TLFGREYIDH LKAWLVSSGC
PLQVKKAEPE PMREEEKMIP PTKPEIQAKA PSSLSDAVPQ RADHRVVGTI DQLVKRVIEG
SLSPKERTLL KEDPAYWFLS DENSLEYKYY KLKLAEMQRM SENLRGADQK PTSADCAVRA
MLYSRAVRNL KKKLLPWQRR GLLRAQGLRG WKARRATTGT QTLLSSGTRL KHHGRQAPGL
SQAKPSLPDR NDAAKDCPPD PVGPSPQDPS LEASGPSPKP AGVDISEAPQ TSSPCPSADI
DMKTMETAEK LARFVAQVGP EIEQFSIENS TDNPDLWFLH DQNSSAFKFY RKKVFELCPS
ICFTSSPHNL HTGGGDTTGS QESPVDLMEG EAEFEDEPPP REAELESPEV MPEEEDEDDE
DGGEEAPAPG GAGKSEGSTP ADGLPGEAAE DDLAGAPALS QASSGTCFPR KRISSKSLKV
GMIPAPKRVC LIQEPKVHEP VRIAYDRPRG RPMSKKKKPK DLDFAQQKLT DKNLGFQMLQ
KMGWKEGHGL GSLGKGIREP VSVGTPSEGE GLGADGQEHK EDTFDVFRQR MMQMYRHKRA
NK*

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:19136541C>TN/A show variant in all transcripts IGV

HGNC symbol

SUGP2

Ensembl transcript ID

ENST00000452918

Genbank transcript ID

NM_001017392

UniProt peptide

Q8IX01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.616G>A
cDNA.762G>A
g.7840G>A

AA changes

G206S Score: 56 explain score(s)

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

206

frameshift

known variant

Reference ID: rs4808907

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1584	777	2361
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.047	0
	-0.53	0
(flanking)	0.319	0

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
Donor marginally increased	7843	wt: 0.9989 / mu: 0.9993 (marginal change - not scored)	wt: GCGGCAGTCAAGTCC mu: GCAGCAGTCAAGTCC	GGCA\|gtca

distance from splice site

495

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

206

mutated

not conserved

206

Ptroglodytes

not conserved

ENSPTRG00000010727

206

Mmulatta

not conserved

ENSMMUG00000019665

207

Fcatus

not conserved

ENSFCAG00000009765

206

Mmusculus

not conserved

ENSMUSG00000036054

200

Ggallus

not conserved

ENSGALG00000003047

208

GNI

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0051550

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3249 / 3249

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

1083 / 1083

position of stopcodon in wt / mu cDNA

3395 / 3395

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

147 / 147

chromosome

strand

-1

last intron/exon boundary

3396

theoretical NMD boundary in CDS

3199

length of CDS

3249

coding sequence (CDS) position

616

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

762

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

7840

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

19136541

original gDNA sequence snippet

CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA

altered gDNA sequence snippet

CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA

original cDNA sequence snippet

CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA

altered cDNA sequence snippet

CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA

wildtype AA sequence

MAARRITQET FDAVLQEKAK RYHMDASGEA VSETLQFKAQ DLLRAVPRSR AEMYDDVHSD
GRYSLSGSVA HSRDAGREGL RSDVFPGPSF RSSNPSISDD SYFRKECGRD LEFSHSDSRD
QVIGHRKLGH FRSQDWKFAL RGSWEQDFGH PVSQESSWSQ EYSFGPSAVL GDFGSSRLIE
KECLEKESRD YDVDHPGEAD SVLRGGSQVQ ARGRALNIVD QEGSLLGKGE TQGLLTAKGG
VGKLVTLRNV STKKIPTVNR ITPKTQGTNQ IQKNTPSPDV TLGTNPGTED IQFPIQKIPL
GLDLKNLRLP RRKMSFDIID KSDVFSRFGI EIIKWAGFHT IKDDIKFSQL FQTLFELETE
TCAKMLASFK CSLKPEHRDF CFFTIKFLKH SALKTPRVDN EFLNMLLDKG AVKTKNCFFE
IIKPFDKYIM RLQDRLLKSV TPLLMACNAY ELSVKMKTLS NPLDLALALE TTNSLCRKSL
ALLGQTFSLA SSFRQEKILE AVGLQDIAPS PAAFPNFEDS TLFGREYIDH LKAWLVSSGC
PLQVKKAEPE PMREEEKMIP PTKPEIQAKA PSSLSDAVPQ RADHRVVGTI DQLVKRVIEG
SLSPKERTLL KEDPAYWFLS DENSLEYKYY KLKLAEMQRM SENLRGADQK PTSADCAVRA
MLYSRAVRNL KKKLLPWQRR GLLRAQGLRG WKARRATTGT QTLLSSGTRL KHHGRQAPGL
SQAKPSLPDR NDAAKDCPPD PVGPSPQDPS LEASGPSPKP AGVDISEAPQ TSSPCPSADI
DMKTMETAEK LARFVAQVGP EIEQFSIENS TDNPDLWFLH DQNSSAFKFY RKKVFELCPS
ICFTSSPHNL HTGGGDTTGS QESPVDLMEG EAEFEDEPPP REAELESPEV MPEEEDEDDE
DGGEEAPAPG GAGKSEGSTP ADGLPGEAAE DDLAGAPALS QASSGTCFPR KRISSKSLKV
GMIPAPKRVC LIQEPKVHEP VRIAYDRPRG RPMSKKKKPK DLDFAQQKLT DKNLGFQMLQ
KMGWKEGHGL GSLGKGIREP VSVGTPSEGE GLGADGQEHK EDTFDVFRQR MMQMYRHKRA
NK*

mutated AA sequence

MAARRITQET FDAVLQEKAK RYHMDASGEA VSETLQFKAQ DLLRAVPRSR AEMYDDVHSD
GRYSLSGSVA HSRDAGREGL RSDVFPGPSF RSSNPSISDD SYFRKECGRD LEFSHSDSRD
QVIGHRKLGH FRSQDWKFAL RGSWEQDFGH PVSQESSWSQ EYSFGPSAVL GDFGSSRLIE
KECLEKESRD YDVDHPGEAD SVLRGSSQVQ ARGRALNIVD QEGSLLGKGE TQGLLTAKGG
VGKLVTLRNV STKKIPTVNR ITPKTQGTNQ IQKNTPSPDV TLGTNPGTED IQFPIQKIPL
GLDLKNLRLP RRKMSFDIID KSDVFSRFGI EIIKWAGFHT IKDDIKFSQL FQTLFELETE
TCAKMLASFK CSLKPEHRDF CFFTIKFLKH SALKTPRVDN EFLNMLLDKG AVKTKNCFFE
IIKPFDKYIM RLQDRLLKSV TPLLMACNAY ELSVKMKTLS NPLDLALALE TTNSLCRKSL
ALLGQTFSLA SSFRQEKILE AVGLQDIAPS PAAFPNFEDS TLFGREYIDH LKAWLVSSGC
PLQVKKAEPE PMREEEKMIP PTKPEIQAKA PSSLSDAVPQ RADHRVVGTI DQLVKRVIEG
SLSPKERTLL KEDPAYWFLS DENSLEYKYY KLKLAEMQRM SENLRGADQK PTSADCAVRA
MLYSRAVRNL KKKLLPWQRR GLLRAQGLRG WKARRATTGT QTLLSSGTRL KHHGRQAPGL
SQAKPSLPDR NDAAKDCPPD PVGPSPQDPS LEASGPSPKP AGVDISEAPQ TSSPCPSADI
DMKTMETAEK LARFVAQVGP EIEQFSIENS TDNPDLWFLH DQNSSAFKFY RKKVFELCPS
ICFTSSPHNL HTGGGDTTGS QESPVDLMEG EAEFEDEPPP REAELESPEV MPEEEDEDDE
DGGEEAPAPG GAGKSEGSTP ADGLPGEAAE DDLAGAPALS QASSGTCFPR KRISSKSLKV
GMIPAPKRVC LIQEPKVHEP VRIAYDRPRG RPMSKKKKPK DLDFAQQKLT DKNLGFQMLQ
KMGWKEGHGL GSLGKGIREP VSVGTPSEGE GLGADGQEHK EDTFDVFRQR MMQMYRHKRA
NK*

speed

0.49 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999911147771 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:19136541C>TN/A show variant in all transcripts IGV

HGNC symbol

SUGP2

Ensembl transcript ID

ENST00000456085

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.7840G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4808907

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1584	777	2361
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.047	0
	-0.53	0
(flanking)	0.319	0

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
Donor marginally increased	7843	wt: 0.9989 / mu: 0.9993 (marginal change - not scored)	wt: GCGGCAGTCAAGTCC mu: GCAGCAGTCAAGTCC	GGCA\|gtca

distance from splice site

123

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

255 / 255

chromosome

strand

-1

last intron/exon boundary

2553

theoretical NMD boundary in CDS

2248

length of CDS

2586

coding sequence (CDS) position

N/A

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

N/A

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

7840

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

19136541

original gDNA sequence snippet

CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA

altered gDNA sequence snippet

CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTATFAKNVA GIWNFLTLIL GTRSLATGNW GISVLRTGNL RSVVLGNKTL AIQFLKSPLG
HRSIVLIPLG LDLKNLRLPR RKMSFDIIDK SDVFSRFGIE IIKWAGFHTI KDDIKFSQLF
QTLFELETET CAKMLASFKC SLKPEHRDFC FFTIKFLKHS ALKTPRVDNE FLNMLLDKGA
VKTKNCFFEI IKPFDKYIMR LQDRLLKSVT PLLMACNAYE LSVKMKTLSN PLDLALALET
TNSLCRKSLA LLGQTFSLAS SFRQEKILEA VGLQDIAPSP AAFPNFEDST LFGREYIDHL
KAWLVSSGCP LQVKKAEPEP MREEEKMIPP TKPEIQAKAP SSLSDAVPQR ADHRVVGTID
QLVKRVIEGS LSPKERTLLK EDPAYWFLSD ENSLEYKYYK LKLAEMQRMS ENLRGADQKP
TSADCAVRAM LYSRAVRNLK KKLLPWQRRG LLRAQGLRGW KARRATTGTQ TLLSSGTRLK
HHGRQAPGLS QAKPSLPDRN DAAKDCPPDP VGPSPQDPSL EASGPSPKPA GVDISEAPQT
SSPCPSADID MKTMETAEKL ARFVAQVGPE IEQFSIENST DNPDLWFLHD QNSSAFKFYR
KKVFELCPSI CFTSSPHNLH TGGGDTTGSQ ESPVDLMEGE AEFEDEPPPR EAELESPEVM
PEEEDEDDED GGEEAPAPGG AGKSEGSTPA DGLPGEAAED DLAGAPALSQ ASSGTCFPRK
RISSKSLKVG MIPAPKRVCL IQEPKVHEPV RIAYDRPRGR PMSKKKKPKD LDFAQQKLTD
KNLGFQMLQK MGWKEGHGLG SLGKGIREPV SVYAAGSLGW EWVGPQSFHL QPAAWLLHSQ
DGLQLAVDFC FLNRRHLQMR S*

mutated AA sequence

N/A

speed

0.38 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