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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000345512
Querying Taster for transcript #2: ENST00000373779
Querying Taster for transcript #3: ENST00000428026
Querying Taster for transcript #4: ENST00000460170
Querying Taster for transcript #5: ENST00000356870
Querying Taster for transcript #6: ENST00000323874
MT speed 0 s - this script 4.56428 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PTPRU	polymorphism_automatic	0.095952430495264	simple_aae		affected		N940S	single base exchange	rs2235937		show file
PTPRU	polymorphism_automatic	0.095952430495264	simple_aae		affected		N930S	single base exchange	rs2235937		show file
PTPRU	polymorphism_automatic	0.095952430495264	simple_aae		affected		N930S	single base exchange	rs2235937		show file
PTPRU	polymorphism_automatic	0.095952430495264	simple_aae		affected		N930S	single base exchange	rs2235937		show file
PTPRU	polymorphism_automatic	0.095952430495264	simple_aae		affected		N930S	single base exchange	rs2235937		show file
PTPRU	polymorphism_automatic	0.095952430495264	simple_aae		affected		N930S	single base exchange	rs2235937		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.904047569504736 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:29631909A>GN/A show variant in all transcripts IGV

HGNC symbol

PTPRU

Ensembl transcript ID

ENST00000345512

Genbank transcript ID

NM_005704

UniProt peptide

Q92729

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2819A>G
cDNA.2948A>G
g.68882A>G

AA changes

N940S Score: 46 explain score(s)

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

940

frameshift

known variant

Reference ID: rs2235937

database	homozygous (G/G)	heterozygous	allele carriers
1000G	291	1103	1394
ExAC	5734	21299	27033

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.459	0.905
	0.34	0.888
(flanking)	0.027	0.886

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 gained	68881	0.82	mu: ACCCCAGTGCCGACT	CCCA\|gtgc
Donor gained	68876	0.88	mu: GGGAGACCCCAGTGC	GAGA\|cccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

940

mutated

all conserved

940

Ptroglodytes

all identical

ENSPTRG00000000447

905

DIRINRE

Mmulatta

all identical

ENSMMUG00000015661

927

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000028909

940

Ggallus

all identical

ENSGALG00000001443

929

Trubripes

all identical

ENSTRUG00000014224

872

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0014007

939

Celegans

not conserved

F56D1.4

874

Xtropicalis

all conserved

ENSXETG00000005931

930

protein features

start (aa)	end (aa)	feature	details
771	1446	TOPO_DOM	Cytoplasmic (Potential).	lost
888	1144	DOMAIN	Tyrosine-protein phosphatase 1.	lost
1053	1053	BINDING	Substrate (Potential).	might get lost (downstream of altered splice site)
1085	1085	MUTAGEN	C->S: Loss of phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1380.	might get lost (downstream of altered splice site)
1085	1085	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1085	1091	REGION	Substrate binding (By similarity).	might get lost (downstream of altered splice site)
1129	1129	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
1176	1439	DOMAIN	Tyrosine-protein phosphatase 2.	might get lost (downstream of altered splice site)
1215	1215	CONFLICT	P -> A (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)
1245	1245	CONFLICT	A -> R (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1380	1380	MUTAGEN	C->S: No effect on phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1085.	might get lost (downstream of altered splice site)
1380	1380	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1399	1399	CONFLICT	M -> I (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1436	1436	CONFLICT	A -> V (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4341 / 4341

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

1447 / 1447

position of stopcodon in wt / mu cDNA

4470 / 4470

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

130 / 130

chromosome

strand

last intron/exon boundary

4408

theoretical NMD boundary in CDS

4228

length of CDS

4341

coding sequence (CDS) position

2819

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

2948

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

68882

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

29631909

original gDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered gDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

original cDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered cDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

wildtype AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGRDHYAYS
YYPKPVNMTK ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS
GGVTEASSLL GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES
FFEGWDATKK KDKVKGSRQE PMPAYDRHRV KLHPMLGDPN ADYINANYID GYHRSNHFIA
TQGPKPEMVY DFWRMVWQEH CSSIVMITKL VEVGRVKCSR YWPEDSDTYG DIKIMLVKTE
TLAEYVVRTF ALERRGYSAR HEVRQFHFTA WPEHGVPYHA TGLLAFIRRV KASTPPDAGP
IVIHCSAGTG RTGCYIVLDV MLDMAECEGV VDIYNCVKTL CSRRVNMIQT EEQYIFIHDA
ILEACLCGET TIPVSEFKAT YKEMIRIDPQ SNSSQLREEF QTLNSVTPPL DVEECSIALL
PRNRDKNRSM DVLPPDRCLP FLISTDGDSN NYINAALTDS YTRSAAFIVT LHPLQSTTPD
FWRLVYDYGC TSIVMLNQLN QSNSAWPCLQ YWPEPGRQQY GLMEVEFMSG TADEDLVARV
FRVQNISRLQ EGHLLVRHFQ FLRWSAYRDT PDSKKAFLHL LAEVDKWQAE SGDGRTIVHC
LNGGGRSGTF CACATVLEMI RCHNLVDVFF AAKTLRNYKP NMVETMDQYH FCYDVALEYL
EGLESR*

mutated AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGRDHYAYS
YYPKPVNMTK ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS
GGVTEASSLL GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES
FFEGWDATKK KDKVKGSRQE PMPAYDRHRV KLHPMLGDPS ADYINANYID GYHRSNHFIA
TQGPKPEMVY DFWRMVWQEH CSSIVMITKL VEVGRVKCSR YWPEDSDTYG DIKIMLVKTE
TLAEYVVRTF ALERRGYSAR HEVRQFHFTA WPEHGVPYHA TGLLAFIRRV KASTPPDAGP
IVIHCSAGTG RTGCYIVLDV MLDMAECEGV VDIYNCVKTL CSRRVNMIQT EEQYIFIHDA
ILEACLCGET TIPVSEFKAT YKEMIRIDPQ SNSSQLREEF QTLNSVTPPL DVEECSIALL
PRNRDKNRSM DVLPPDRCLP FLISTDGDSN NYINAALTDS YTRSAAFIVT LHPLQSTTPD
FWRLVYDYGC TSIVMLNQLN QSNSAWPCLQ YWPEPGRQQY GLMEVEFMSG TADEDLVARV
FRVQNISRLQ EGHLLVRHFQ FLRWSAYRDT PDSKKAFLHL LAEVDKWQAE SGDGRTIVHC
LNGGGRSGTF CACATVLEMI RCHNLVDVFF AAKTLRNYKP NMVETMDQYH FCYDVALEYL
EGLESR*

speed

0.81 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: 0.904047569504736 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:29631909A>GN/A show variant in all transcripts IGV

HGNC symbol

PTPRU

Ensembl transcript ID

ENST00000373779

Genbank transcript ID

NM_133178

UniProt peptide

Q92729

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2789A>G
cDNA.2918A>G
g.68882A>G

AA changes

N930S Score: 46 explain score(s)

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

930

frameshift

known variant

Reference ID: rs2235937

database	homozygous (G/G)	heterozygous	allele carriers
1000G	291	1103	1394
ExAC	5734	21299	27033

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.459	0.905
	0.34	0.888
(flanking)	0.027	0.886

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 gained	68881	0.82	mu: ACCCCAGTGCCGACT	CCCA\|gtgc
Donor gained	68876	0.88	mu: GGGAGACCCCAGTGC	GAGA\|cccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

930

mutated

all conserved

930

Ptroglodytes

all identical

ENSPTRG00000000447

905

DIRINRE

Mmulatta

all identical

ENSMMUG00000015661

927

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000028909

940

Ggallus

all identical

ENSGALG00000001443

929

Trubripes

all identical

ENSTRUG00000014224

872

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0014007

939

Celegans

not conserved

F56D1.4

874

Xtropicalis

all conserved

ENSXETG00000005931

930

protein features

start (aa)	end (aa)	feature	details
771	1446	TOPO_DOM	Cytoplasmic (Potential).	lost
888	1144	DOMAIN	Tyrosine-protein phosphatase 1.	lost
1053	1053	BINDING	Substrate (Potential).	might get lost (downstream of altered splice site)
1085	1085	MUTAGEN	C->S: Loss of phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1380.	might get lost (downstream of altered splice site)
1085	1085	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1085	1091	REGION	Substrate binding (By similarity).	might get lost (downstream of altered splice site)
1129	1129	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
1176	1439	DOMAIN	Tyrosine-protein phosphatase 2.	might get lost (downstream of altered splice site)
1215	1215	CONFLICT	P -> A (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)
1245	1245	CONFLICT	A -> R (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1380	1380	MUTAGEN	C->S: No effect on phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1085.	might get lost (downstream of altered splice site)
1380	1380	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1399	1399	CONFLICT	M -> I (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1436	1436	CONFLICT	A -> V (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4311 / 4311

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

1437 / 1437

position of stopcodon in wt / mu cDNA

4440 / 4440

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

130 / 130

chromosome

strand

last intron/exon boundary

4378

theoretical NMD boundary in CDS

4198

length of CDS

4311

coding sequence (CDS) position

2789

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

2918

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

68882

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

29631909

original gDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered gDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

original cDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered cDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

wildtype AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPN ADYINANYID GYHRSNHFIA TQGPKPEMVY
DFWRMVWQEH CSSIVMITKL VEVGRVKCSR YWPEDSDTYG DIKIMLVKTE TLAEYVVRTF
ALERRGYSAR HEVRQFHFTA WPEHGVPYHA TGLLAFIRRV KASTPPDAGP IVIHCSAGTG
RTGCYIVLDV MLDMAECEGV VDIYNCVKTL CSRRVNMIQT EEQYIFIHDA ILEACLCGET
TIPVSEFKAT YKEMIRIDPQ SNSSQLREEF QTLNSVTPPL DVEECSIALL PRNRDKNRSM
DVLPPDRCLP FLISTDGDSN NYINAALTDS YTRSAAFIVT LHPLQSTTPD FWRLVYDYGC
TSIVMLNQLN QSNSAWPCLQ YWPEPGRQQY GLMEVEFMSG TADEDLVARV FRVQNISRLQ
EGHLLVRHFQ FLRWSAYRDT PDSKKAFLHL LAEVDKWQAE SGDGRTIVHC LNGGGRSGTF
CACATVLEMI RCHNLVDVFF AAKTLRNYKP NMVETMDQYH FCYDVALEYL EGLESR*

mutated AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPS ADYINANYID GYHRSNHFIA TQGPKPEMVY
DFWRMVWQEH CSSIVMITKL VEVGRVKCSR YWPEDSDTYG DIKIMLVKTE TLAEYVVRTF
ALERRGYSAR HEVRQFHFTA WPEHGVPYHA TGLLAFIRRV KASTPPDAGP IVIHCSAGTG
RTGCYIVLDV MLDMAECEGV VDIYNCVKTL CSRRVNMIQT EEQYIFIHDA ILEACLCGET
TIPVSEFKAT YKEMIRIDPQ SNSSQLREEF QTLNSVTPPL DVEECSIALL PRNRDKNRSM
DVLPPDRCLP FLISTDGDSN NYINAALTDS YTRSAAFIVT LHPLQSTTPD FWRLVYDYGC
TSIVMLNQLN QSNSAWPCLQ YWPEPGRQQY GLMEVEFMSG TADEDLVARV FRVQNISRLQ
EGHLLVRHFQ FLRWSAYRDT PDSKKAFLHL LAEVDKWQAE SGDGRTIVHC LNGGGRSGTF
CACATVLEMI RCHNLVDVFF AAKTLRNYKP NMVETMDQYH FCYDVALEYL EGLESR*

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.904047569504736 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:29631909A>GN/A show variant in all transcripts IGV

HGNC symbol

PTPRU

Ensembl transcript ID

ENST00000428026

Genbank transcript ID

NM_001195001

UniProt peptide

Q92729

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2789A>G
cDNA.2885A>G
g.68882A>G

AA changes

N930S Score: 46 explain score(s)

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

930

frameshift

known variant

Reference ID: rs2235937

database	homozygous (G/G)	heterozygous	allele carriers
1000G	291	1103	1394
ExAC	5734	21299	27033

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.459	0.905
	0.34	0.888
(flanking)	0.027	0.886

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 gained	68881	0.82	mu: ACCCCAGTGCCGACT	CCCA\|gtgc
Donor gained	68876	0.88	mu: GGGAGACCCCAGTGC	GAGA\|cccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

930

mutated

all conserved

930

Ptroglodytes

all identical

ENSPTRG00000000447

905

DIRINRE

Mmulatta

all identical

ENSMMUG00000015661

927

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000028909

940

Ggallus

all identical

ENSGALG00000001443

929

Trubripes

all identical

ENSTRUG00000014224

872

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0014007

939

Celegans

not conserved

F56D1.4

874

Xtropicalis

all conserved

ENSXETG00000005931

930

protein features

start (aa)	end (aa)	feature	details
771	1446	TOPO_DOM	Cytoplasmic (Potential).	lost
888	1144	DOMAIN	Tyrosine-protein phosphatase 1.	lost
1053	1053	BINDING	Substrate (Potential).	might get lost (downstream of altered splice site)
1085	1085	MUTAGEN	C->S: Loss of phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1380.	might get lost (downstream of altered splice site)
1085	1085	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1085	1091	REGION	Substrate binding (By similarity).	might get lost (downstream of altered splice site)
1129	1129	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
1176	1439	DOMAIN	Tyrosine-protein phosphatase 2.	might get lost (downstream of altered splice site)
1215	1215	CONFLICT	P -> A (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)
1245	1245	CONFLICT	A -> R (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1380	1380	MUTAGEN	C->S: No effect on phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1085.	might get lost (downstream of altered splice site)
1380	1380	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1399	1399	CONFLICT	M -> I (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1436	1436	CONFLICT	A -> V (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4302 / 4302

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

1434 / 1434

position of stopcodon in wt / mu cDNA

4398 / 4398

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

97 / 97

chromosome

strand

last intron/exon boundary

4336

theoretical NMD boundary in CDS

4189

length of CDS

4302

coding sequence (CDS) position

2789

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

2885

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

68882

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

29631909

original gDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered gDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

original cDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered cDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

wildtype AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPN ADYINANYID GYHRSNHFIA TQGPKPEMVY
DFWRMVWQEH CSSIVMITKL VEVKCSRYWP EDSDTYGDIK IMLVKTETLA EYVVRTFALE
RRGYSARHEV RQFHFTAWPE HGVPYHATGL LAFIRRVKAS TPPDAGPIVI HCSAGTGRTG
CYIVLDVMLD MAECEGVVDI YNCVKTLCSR RVNMIQTEEQ YIFIHDAILE ACLCGETTIP
VSEFKATYKE MIRIDPQSNS SQLREEFQTL NSVTPPLDVE ECSIALLPRN RDKNRSMDVL
PPDRCLPFLI STDGDSNNYI NAALTDSYTR SAAFIVTLHP LQSTTPDFWR LVYDYGCTSI
VMLNQLNQSN SAWPCLQYWP EPGRQQYGLM EVEFMSGTAD EDLVARVFRV QNISRLQEGH
LLVRHFQFLR WSAYRDTPDS KKAFLHLLAE VDKWQAESGD GRTIVHCLNG GGRSGTFCAC
ATVLEMIRCH NLVDVFFAAK TLRNYKPNMV ETMDQYHFCY DVALEYLEGL ESR*

mutated AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPS ADYINANYID GYHRSNHFIA TQGPKPEMVY
DFWRMVWQEH CSSIVMITKL VEVKCSRYWP EDSDTYGDIK IMLVKTETLA EYVVRTFALE
RRGYSARHEV RQFHFTAWPE HGVPYHATGL LAFIRRVKAS TPPDAGPIVI HCSAGTGRTG
CYIVLDVMLD MAECEGVVDI YNCVKTLCSR RVNMIQTEEQ YIFIHDAILE ACLCGETTIP
VSEFKATYKE MIRIDPQSNS SQLREEFQTL NSVTPPLDVE ECSIALLPRN RDKNRSMDVL
PPDRCLPFLI STDGDSNNYI NAALTDSYTR SAAFIVTLHP LQSTTPDFWR LVYDYGCTSI
VMLNQLNQSN SAWPCLQYWP EPGRQQYGLM EVEFMSGTAD EDLVARVFRV QNISRLQEGH
LLVRHFQFLR WSAYRDTPDS KKAFLHLLAE VDKWQAESGD GRTIVHCLNG GGRSGTFCAC
ATVLEMIRCH NLVDVFFAAK TLRNYKPNMV ETMDQYHFCY DVALEYLEGL ESR*

speed

0.64 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.904047569504736 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:29631909A>GN/A show variant in all transcripts IGV

HGNC symbol

PTPRU

Ensembl transcript ID

ENST00000460170

Genbank transcript ID

NM_133177

UniProt peptide

Q92729

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2789A>G
cDNA.2795A>G
g.68882A>G

AA changes

N930S Score: 46 explain score(s)

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

930

frameshift

known variant

Reference ID: rs2235937

database	homozygous (G/G)	heterozygous	allele carriers
1000G	291	1103	1394
ExAC	5734	21299	27033

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.459	0.905
	0.34	0.888
(flanking)	0.027	0.886

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 gained	68881	0.82	mu: ACCCCAGTGCCGACT	CCCA\|gtgc
Donor gained	68876	0.88	mu: GGGAGACCCCAGTGC	GAGA\|cccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

930

mutated

all conserved

930

Ptroglodytes

all identical

ENSPTRG00000000447

905

Mmulatta

all identical

ENSMMUG00000015661

927

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000028909

940

Ggallus

all identical

ENSGALG00000001443

929

Trubripes

all identical

ENSTRUG00000014224

872

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0014007

939

Celegans

not conserved

F56D1.4

874

Xtropicalis

all conserved

ENSXETG00000005931

930

protein features

start (aa)	end (aa)	feature	details
771	1446	TOPO_DOM	Cytoplasmic (Potential).	lost
888	1144	DOMAIN	Tyrosine-protein phosphatase 1.	lost
1053	1053	BINDING	Substrate (Potential).	might get lost (downstream of altered splice site)
1085	1085	MUTAGEN	C->S: Loss of phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1380.	might get lost (downstream of altered splice site)
1085	1085	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1085	1091	REGION	Substrate binding (By similarity).	might get lost (downstream of altered splice site)
1129	1129	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
1176	1439	DOMAIN	Tyrosine-protein phosphatase 2.	might get lost (downstream of altered splice site)
1215	1215	CONFLICT	P -> A (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)
1245	1245	CONFLICT	A -> R (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1380	1380	MUTAGEN	C->S: No effect on phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1085.	might get lost (downstream of altered splice site)
1380	1380	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1399	1399	CONFLICT	M -> I (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1436	1436	CONFLICT	A -> V (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4323 / 4323

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

1441 / 1441

position of stopcodon in wt / mu cDNA

4329 / 4329

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

7 / 7

chromosome

strand

last intron/exon boundary

4267

theoretical NMD boundary in CDS

4210

length of CDS

4323

coding sequence (CDS) position

2789

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

2795

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

68882

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

29631909

original gDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered gDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

original cDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered cDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

wildtype AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPN ADYINANYID IRINREGYHR SNHFIATQGP
KPEMVYDFWR MVWQEHCSSI VMITKLVEVG RVKCSRYWPE DSDTYGDIKI MLVKTETLAE
YVVRTFALER RGYSARHEVR QFHFTAWPEH GVPYHATGLL AFIRRVKAST PPDAGPIVIH
CSAGTGRTGC YIVLDVMLDM AECEGVVDIY NCVKTLCSRR VNMIQTEEQY IFIHDAILEA
CLCGETTIPV SEFKATYKEM IRIDPQSNSS QLREEFQTLN SVTPPLDVEE CSIALLPRNR
DKNRSMDVLP PDRCLPFLIS TDGDSNNYIN AALTDSYTRS AAFIVTLHPL QSTTPDFWRL
VYDYGCTSIV MLNQLNQSNS AWPCLQYWPE PGRQQYGLME VEFMSGTADE DLVARVFRVQ
NISREGHLLV RHFQFLRWSA YRDTPDSKKA FLHLLAEVDK WQAESGDGRT IVHCLNGGGR
SGTFCACATV LEMIRCHNLV DVFFAAKTLR NYKPNMVETM DQYHFCYDVA LEYLEGLESR
*

mutated AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPS ADYINANYID IRINREGYHR SNHFIATQGP
KPEMVYDFWR MVWQEHCSSI VMITKLVEVG RVKCSRYWPE DSDTYGDIKI MLVKTETLAE
YVVRTFALER RGYSARHEVR QFHFTAWPEH GVPYHATGLL AFIRRVKAST PPDAGPIVIH
CSAGTGRTGC YIVLDVMLDM AECEGVVDIY NCVKTLCSRR VNMIQTEEQY IFIHDAILEA
CLCGETTIPV SEFKATYKEM IRIDPQSNSS QLREEFQTLN SVTPPLDVEE CSIALLPRNR
DKNRSMDVLP PDRCLPFLIS TDGDSNNYIN AALTDSYTRS AAFIVTLHPL QSTTPDFWRL
VYDYGCTSIV MLNQLNQSNS AWPCLQYWPE PGRQQYGLME VEFMSGTADE DLVARVFRVQ
NISREGHLLV RHFQFLRWSA YRDTPDSKKA FLHLLAEVDK WQAESGDGRT IVHCLNGGGR
SGTFCACATV LEMIRCHNLV DVFFAAKTLR NYKPNMVETM DQYHFCYDVA LEYLEGLESR
*

speed

0.79 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.904047569504736 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:29631909A>GN/A show variant in all transcripts IGV

HGNC symbol

PTPRU

Ensembl transcript ID

ENST00000356870

Genbank transcript ID

N/A

UniProt peptide

Q92729

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2789A>G
cDNA.2899A>G
g.68882A>G

AA changes

N930S Score: 46 explain score(s)

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

930

frameshift

known variant

Reference ID: rs2235937

database	homozygous (G/G)	heterozygous	allele carriers
1000G	291	1103	1394
ExAC	5734	21299	27033

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.459	0.905
	0.34	0.888
(flanking)	0.027	0.886

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 gained	68881	0.82	mu: ACCCCAGTGCCGACT	CCCA\|gtgc
Donor gained	68876	0.88	mu: GGGAGACCCCAGTGC	GAGA\|cccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

930

mutated

all conserved

930

Ptroglodytes

all identical

ENSPTRG00000000447

905

Mmulatta

all identical

ENSMMUG00000015661

927

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000028909

940

Ggallus

all identical

ENSGALG00000001443

929

Trubripes

all identical

ENSTRUG00000014224

872

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0014007

939

Celegans

not conserved

F56D1.4

874

Xtropicalis

all conserved

ENSXETG00000005931

930

protein features

start (aa)	end (aa)	feature	details
771	1446	TOPO_DOM	Cytoplasmic (Potential).	lost
888	1144	DOMAIN	Tyrosine-protein phosphatase 1.	lost
1053	1053	BINDING	Substrate (Potential).	might get lost (downstream of altered splice site)
1085	1085	MUTAGEN	C->S: Loss of phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1380.	might get lost (downstream of altered splice site)
1085	1085	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1085	1091	REGION	Substrate binding (By similarity).	might get lost (downstream of altered splice site)
1129	1129	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
1176	1439	DOMAIN	Tyrosine-protein phosphatase 2.	might get lost (downstream of altered splice site)
1215	1215	CONFLICT	P -> A (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)
1245	1245	CONFLICT	A -> R (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1380	1380	MUTAGEN	C->S: No effect on phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1085.	might get lost (downstream of altered splice site)
1380	1380	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1399	1399	CONFLICT	M -> I (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1436	1436	CONFLICT	A -> V (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4329 / 4329

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

1443 / 1443

position of stopcodon in wt / mu cDNA

4439 / 4439

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

111 / 111

chromosome

strand

last intron/exon boundary

4377

theoretical NMD boundary in CDS

4216

length of CDS

4329

coding sequence (CDS) position

2789

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

2899

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

68882

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

29631909

original gDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered gDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

original cDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered cDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

wildtype AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPN ADYINANYID IRINREGYHR SNHFIATQGP
KPEMVYDFWR MVWQEHCSSI VMITKLVEVG RVKCSRYWPE DSDTYGDIKI MLVKTETLAE
YVVRTFALER RGYSARHEVR QFHFTAWPEH GVPYHATGLL AFIRRVKAST PPDAGPIVIH
CSAGTGRTGC YIVLDVMLDM AECEGVVDIY NCVKTLCSRR VNMIQTEEQY IFIHDAILEA
CLCGETTIPV SEFKATYKEM IRIDPQSNSS QLREEFQTLN SVTPPLDVEE CSIALLPRNR
DKNRSMDVLP PDRCLPFLIS TDGDSNNYIN AALTDSYTRS AAFIVTLHPL QSTTPDFWRL
VYDYGCTSIV MLNQLNQSNS AWPCLQYWPE PGRQQYGLME VEFMSGTADE DLVARVFRVQ
NISRLQEGHL LVRHFQFLRW SAYRDTPDSK KAFLHLLAEV DKWQAESGDG RTIVHCLNGG
GRSGTFCACA TVLEMIRCHN LVDVFFAAKT LRNYKPNMVE TMDQYHFCYD VALEYLEGLE
SR*

mutated AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPS ADYINANYID IRINREGYHR SNHFIATQGP
KPEMVYDFWR MVWQEHCSSI VMITKLVEVG RVKCSRYWPE DSDTYGDIKI MLVKTETLAE
YVVRTFALER RGYSARHEVR QFHFTAWPEH GVPYHATGLL AFIRRVKAST PPDAGPIVIH
CSAGTGRTGC YIVLDVMLDM AECEGVVDIY NCVKTLCSRR VNMIQTEEQY IFIHDAILEA
CLCGETTIPV SEFKATYKEM IRIDPQSNSS QLREEFQTLN SVTPPLDVEE CSIALLPRNR
DKNRSMDVLP PDRCLPFLIS TDGDSNNYIN AALTDSYTRS AAFIVTLHPL QSTTPDFWRL
VYDYGCTSIV MLNQLNQSNS AWPCLQYWPE PGRQQYGLME VEFMSGTADE DLVARVFRVQ
NISRLQEGHL LVRHFQFLRW SAYRDTPDSK KAFLHLLAEV DKWQAESGDG RTIVHCLNGG
GRSGTFCACA TVLEMIRCHN LVDVFFAAKT LRNYKPNMVE TMDQYHFCYD VALEYLEGLE
SR*

speed

0.46 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.904047569504736 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:29631909A>GN/A show variant in all transcripts IGV

HGNC symbol

PTPRU

Ensembl transcript ID

ENST00000323874

Genbank transcript ID

N/A

UniProt peptide

Q92729

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2789A>G
cDNA.2899A>G
g.68882A>G

AA changes

N930S Score: 46 explain score(s)

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

930

frameshift

known variant

Reference ID: rs2235937

database	homozygous (G/G)	heterozygous	allele carriers
1000G	291	1103	1394
ExAC	5734	21299	27033

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.459	0.905
	0.34	0.888
(flanking)	0.027	0.886

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 gained	68881	0.82	mu: ACCCCAGTGCCGACT	CCCA\|gtgc
Donor gained	68876	0.88	mu: GGGAGACCCCAGTGC	GAGA\|cccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

930

mutated

all conserved

930

Ptroglodytes

all identical

ENSPTRG00000000447

905

Mmulatta

all identical

ENSMMUG00000015661

927

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000028909

940

Ggallus

all identical

ENSGALG00000001443

929

Trubripes

all identical

ENSTRUG00000014224

872

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0014007

939

Celegans

not conserved

F56D1.4

874

Xtropicalis

all conserved

ENSXETG00000005931

930

protein features

start (aa)	end (aa)	feature	details
771	1446	TOPO_DOM	Cytoplasmic (Potential).	lost
888	1144	DOMAIN	Tyrosine-protein phosphatase 1.	lost
1053	1053	BINDING	Substrate (Potential).	might get lost (downstream of altered splice site)
1085	1085	MUTAGEN	C->S: Loss of phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1380.	might get lost (downstream of altered splice site)
1085	1085	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1085	1091	REGION	Substrate binding (By similarity).	might get lost (downstream of altered splice site)
1129	1129	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
1176	1439	DOMAIN	Tyrosine-protein phosphatase 2.	might get lost (downstream of altered splice site)
1215	1215	CONFLICT	P -> A (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)
1245	1245	CONFLICT	A -> R (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1380	1380	MUTAGEN	C->S: No effect on phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1085.	might get lost (downstream of altered splice site)
1380	1380	ACT_SITE	Phosphocysteine intermediate (By similarity).	might get lost (downstream of altered splice site)
1399	1399	CONFLICT	M -> I (in Ref. 4; AAC51938).	might get lost (downstream of altered splice site)
1436	1436	CONFLICT	A -> V (in Ref. 5; AAB07074).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4329 / 4329

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

1443 / 1443

position of stopcodon in wt / mu cDNA

4439 / 4439

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

111 / 111

chromosome

strand

last intron/exon boundary

4377

theoretical NMD boundary in CDS

4216

length of CDS

4329

coding sequence (CDS) position

2789

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

2899

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

68882

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

29631909

original gDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered gDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

original cDNA sequence snippet

CCCGATGCTGGGAGACCCCAATGCCGACTACATTAATGCCA

altered cDNA sequence snippet

CCCGATGCTGGGAGACCCCAGTGCCGACTACATTAATGCCA

wildtype AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPN ADYINANYID LRGGRTGYHR SNHFIATQGP
KPEMVYDFWR MVWQEHCSSI VMITKLVEVG RVKCSRYWPE DSDTYGDIKI MLVKTETLAE
YVVRTFALER RGYSARHEVR QFHFTAWPEH GVPYHATGLL AFIRRVKAST PPDAGPIVIH
CSAGTGRTGC YIVLDVMLDM AECEGVVDIY NCVKTLCSRR VNMIQTEEQY IFIHDAILEA
CLCGETTIPV SEFKATYKEM IRIDPQSNSS QLREEFQTLN SVTPPLDVEE CSIALLPRNR
DKNRSMDVLP PDRCLPFLIS TDGDSNNYIN AALTDSYTRS AAFIVTLHPL QSTTPDFWRL
VYDYGCTSIV MLNQLNQSNS AWPCLQYWPE PGRQQYGLME VEFMSGTADE DLVARVFRVQ
NISRLQEGHL LVRHFQFLRW SAYRDTPDSK KAFLHLLAEV DKWQAESGDG RTIVHCLNGG
GRSGTFCACA TVLEMIRCHN LVDVFFAAKT LRNYKPNMVE TMDQYHFCYD VALEYLEGLE
SR*

mutated AA sequence

MARAQALVLA LTFQLCAPET ETPAAGCTFE EASDPAVPCE YSQAQYDDFQ WEQVRIHPGT
RAPADLPHGS YLMVNTSQHA PGQRAHVIFQ SLSENDTHCV QFSYFLYSRD GHSPGTLGVY
VRVNGGPLGS AVWNMTGSHG RQWHQAELAV STFWPNEYQV LFEALISPDR RGYMGLDDIL
LLSYPCAKAP HFSRLGDVEV NAGQNASFQC MAAGRAAEAE RFLLQRQSGA LVPAAGVRHI
SHRRFLATFP LAAVSRAEQD LYRCVSQAPR GAGVSNFAEL IVKEPPTPIA PPQLLRAGPT
YLIIQLNTNS IIGDGPIVRK EIEYRMARGP WAEVHAVSLQ TYKLWHLDPD TEYEISVLLT
RPGDGGTGRP GPPLISRTKC AEPMRAPKGL AFAEIQARQL TLQWEPLGYN VTRCHTYTVS
LCYHYTLGSS HNQTIRECVK TEQGVSRYTI KNLLPYRNVH VRLVLTNPEG RKEGKEVTFQ
TDEDVPSGIA AESLTFTPLE DMIFLKWEEP QEPNGLITQY EISYQSIESS DPAVNVPGPR
RTISKLRNET YHVFSNLHPG TTYLFSVRAR TGKGFGQAAL TEITTNISAP SFDYADMPSP
LGESENTITV LLRPAQGRGA PISVYQVIVE EERARRLRRE PGGQDCFPVP LTFEAALARG
LVHYFGAELA ASSLPEAMPF TVGDNQTYRG FWNPPLEPRK AYLIYFQAAS HLKGETRLNC
IRIARKAACK ESKRPLEVSQ RSEEMGLILG ICAGGLAVLI LLLGAIIVII RKGKPVNMTK
ATVNYRQEKT HMMSAVDRSF TDQSTLQEDE RLGLSFMDTH GYSTRGDQRS GGVTEASSLL
GGSPRRPCGR KGSPYHTGQL HPAVRVADLL QHINQMKTAE GYGFKQEYES FFEGWDATKK
KDKVKGSRQE PMPAYDRHRV KLHPMLGDPS ADYINANYID LRGGRTGYHR SNHFIATQGP
KPEMVYDFWR MVWQEHCSSI VMITKLVEVG RVKCSRYWPE DSDTYGDIKI MLVKTETLAE
YVVRTFALER RGYSARHEVR QFHFTAWPEH GVPYHATGLL AFIRRVKAST PPDAGPIVIH
CSAGTGRTGC YIVLDVMLDM AECEGVVDIY NCVKTLCSRR VNMIQTEEQY IFIHDAILEA
CLCGETTIPV SEFKATYKEM IRIDPQSNSS QLREEFQTLN SVTPPLDVEE CSIALLPRNR
DKNRSMDVLP PDRCLPFLIS TDGDSNNYIN AALTDSYTRS AAFIVTLHPL QSTTPDFWRL
VYDYGCTSIV MLNQLNQSNS AWPCLQYWPE PGRQQYGLME VEFMSGTADE DLVARVFRVQ
NISRLQEGHL LVRHFQFLRW SAYRDTPDSK KAFLHLLAEV DKWQAESGDG RTIVHCLNGG
GRSGTFCACA TVLEMIRCHN LVDVFFAAKT LRNYKPNMVE TMDQYHFCYD VALEYLEGLE
SR*

speed

0.80 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems