MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000171887
Querying Taster for transcript #2: ENST00000419504
Querying Taster for transcript #3: ENST00000430930
MT speed 0 s - this script 4.392202 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TNS1	polymorphism_automatic	1.8583042275977e-05	simple_aae				R1004W	single base exchange	rs3796028		show file
TNS1	polymorphism_automatic	1.8583042275977e-05	simple_aae				R1004W	single base exchange	rs3796028		show file
TNS1	polymorphism_automatic	0.999999888188615	without_aae					single base exchange	rs3796028		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999981416957724 (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)

chr2:218695102G>AN/A show variant in all transcripts IGV

HGNC symbol

TNS1

Ensembl transcript ID

ENST00000171887

Genbank transcript ID

NM_022648

UniProt peptide

Q9HBL0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3010C>T
cDNA.3463C>T
g.172617C>T

AA changes

R1004W Score: 101 explain score(s)

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

1004

frameshift

known variant

Reference ID: rs3796028

database	homozygous (A/A)	heterozygous	allele carriers
1000G	373	1134	1507
ExAC	7927	16913	24840

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.52	0.982
	-0.224	0.976
(flanking)	1.076	0.995

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	172607	wt: 0.8938 / mu: 0.9000 (marginal change - not scored)	wt: ACTTTACTTTTTTCCTTAGTTACCAGAAGACGGATCCAGCC mu: ACTTTACTTTTTTCCTTAGTTACCAGAAGATGGATCCAGCC	agtt\|ACCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1004

mutated

not conserved

1004

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000013785

1010

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000055322

1159

Ggallus

not conserved

ENSGALG00000011462

1105

Trubripes

not conserved

ENSTRUG00000004813

944

Drerio

not conserved

ENSDARG00000020845

1087

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000005595

1134

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5208 / 5208

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

1736 / 1736

position of stopcodon in wt / mu cDNA

5661 / 5661

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

454 / 454

chromosome

strand

-1

last intron/exon boundary

5517

theoretical NMD boundary in CDS

5013

length of CDS

5208

coding sequence (CDS) position

3010

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

3463

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

172617

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

218695102

original gDNA sequence snippet

TTTCCTTAGTTACCAGAAGACGGATCCAGCCAGGTAGGTGG

altered gDNA sequence snippet

TTTCCTTAGTTACCAGAAGATGGATCCAGCCAGGTAGGTGG

original cDNA sequence snippet

CCACAGGAGTTACCAGAAGACGGATCCAGCCAGAGGAAGAT

altered cDNA sequence snippet

CCACAGGAGTTACCAGAAGATGGATCCAGCCAGAGGAAGAT

wildtype AA sequence

MSVSRTMEDS CELDLVYVTE RIIAVSFPST ANEENFRSNL REVAQMLKSK HGGNYLLFNL
SERRPDITKL HAKVLEFGWP DLHTPALEKI CSICKAMDTW LNADPHNVVV LHNKGNRGRI
GVVIAAYMHY SNISASADQA LDRFAMKRFY EDKIVPIGQP SQRRYVHYFS GLLSGSIKMN
NKPLFLHHVI MHGIPNFESK GGCRPFLRIY QAMQPVYTSG IYNIPGDSQT SVCITIEPGL
LLKGDILLKC YHKKFRSPAR DVIFRVQFHT CAIHDLGVVF GKEDLDDAFK DDRFPEYGKV
EFVFSYGPEK IQGMEHLENG PSVSVDYNTS DPLIRWDSYD NFSGHRDDGM EEVVGHTQGP
LDGSLYAKVK KKDSLHGSTG AVNATRPTLS ATPNHVEHTL SVSSDSGNST ASTKTDKTDE
PVPGASSATA ALSPQEKREL DRLLSGFGLE REKQGAMYHT QHLRSRPAGG SAVPSSGRHV
VPAQVHVNGG ALASERETDI LDDELPNQDG HSAGSMGTLS SLDGVTNTSE GGYPEALSPL
TNGLDKSYPM EPMVNGGGYP YESASRAGPA HAGHTAPMRP SYSAQEGLAG YQREGPHPAW
PQPVTTSHYA HDPSGMFRSQ SFSEAEPQLP PAPVRGGSSR EAVQRGLNSW QQQQQQQQQP
RPPPRQQERA HLESLVASRP SPQPLAETPI PSLPEFPRAA SQQEIEQSIE TLNMLMLDLE
PASAAAPLHK SQSVPGAWPG ASPLSSQPLS GSSRQSHPLT QSRSGYIPSG HSLGTPEPAP
RASLESVPPG RSYSPYDYQP CLAGPNQDFH SKSPASSSLP AFLPTTHSPP GPQQPPASLP
GLTAQPLLSP KEATSDPSRT PEEEPLNLEG LVAHRVAGVQ AREKQPAEPP APLRRRAASD
GQYENQSPEA TSPRSPGVRS PVQCVSPELA LTIALNPGGR PKEPHLHSYK EAFEEMEGTS
PSSPPPSGVR SPPGLAKTPL SALGLKPHNP ADILLHPTGV TRRRIQPEED EGKVVVRLSE
EPRSYVESVA RTAVAGPRAQ DSEPKSFSAP ATQAYGHEIP LRNGTLGGSF VSPSPLSTSS
PILSADSTSV GSFPSGESSD QGPRTPTQPL LESGFRSGSL GQPSPSAQRN YQSSSPLPTV
GSSYSSPDYS LQHFSSSPES QARAQFSVAG VHTVPGSPQA RHRTVGTNTP PSPGFGWRAI
NPSMAAPSSP SLSHHQMMGP PGTGFHGSTV SSPQSSAATT PGSPSLCRHP AGVYQVSGLH
NKVATTPGSP SLGRHPGAHQ GNLASGLHSN AIASPGSPSL GRHLGGSGSV VPGSPCLDRH
VAYGGYSTPE DRRPTLSRQS SASGYQAPST PSFPVSPAYY PGLSSPATSP SPDSAAFRQG
SPTPALPEKR RMSVGDRAGS LPNYATINGK VSSPVASGMS SPSGGSTVSF SHTLPDFSKY
SMPDNSPETR AKVKFVQDTS KYWYKPEISR EQAIALLKDQ EPGAFIIRDS HSFRGAYGLA
MKVSSPPPTI MQQNKKGDMT HELVRHFLIE TGPRGVKLKG CPNEPNFGSL SALVYQHSII
PLALPCKLVI PNRDPTDESK DSSGPANSTA DLLKQGAACN VLFVNSVDME SLTGPQAISK
ATSETLAADP TPAATIVHFK VSAQGITLTD NQRKLFFRRH YPLNTVTFCD LDPQERKWMK
TEGGAPAKLF GFVARKQGST TDNACHLFAE LDPNQPASAI VNFVSKVMLN AGQKR*

mutated AA sequence

MSVSRTMEDS CELDLVYVTE RIIAVSFPST ANEENFRSNL REVAQMLKSK HGGNYLLFNL
SERRPDITKL HAKVLEFGWP DLHTPALEKI CSICKAMDTW LNADPHNVVV LHNKGNRGRI
GVVIAAYMHY SNISASADQA LDRFAMKRFY EDKIVPIGQP SQRRYVHYFS GLLSGSIKMN
NKPLFLHHVI MHGIPNFESK GGCRPFLRIY QAMQPVYTSG IYNIPGDSQT SVCITIEPGL
LLKGDILLKC YHKKFRSPAR DVIFRVQFHT CAIHDLGVVF GKEDLDDAFK DDRFPEYGKV
EFVFSYGPEK IQGMEHLENG PSVSVDYNTS DPLIRWDSYD NFSGHRDDGM EEVVGHTQGP
LDGSLYAKVK KKDSLHGSTG AVNATRPTLS ATPNHVEHTL SVSSDSGNST ASTKTDKTDE
PVPGASSATA ALSPQEKREL DRLLSGFGLE REKQGAMYHT QHLRSRPAGG SAVPSSGRHV
VPAQVHVNGG ALASERETDI LDDELPNQDG HSAGSMGTLS SLDGVTNTSE GGYPEALSPL
TNGLDKSYPM EPMVNGGGYP YESASRAGPA HAGHTAPMRP SYSAQEGLAG YQREGPHPAW
PQPVTTSHYA HDPSGMFRSQ SFSEAEPQLP PAPVRGGSSR EAVQRGLNSW QQQQQQQQQP
RPPPRQQERA HLESLVASRP SPQPLAETPI PSLPEFPRAA SQQEIEQSIE TLNMLMLDLE
PASAAAPLHK SQSVPGAWPG ASPLSSQPLS GSSRQSHPLT QSRSGYIPSG HSLGTPEPAP
RASLESVPPG RSYSPYDYQP CLAGPNQDFH SKSPASSSLP AFLPTTHSPP GPQQPPASLP
GLTAQPLLSP KEATSDPSRT PEEEPLNLEG LVAHRVAGVQ AREKQPAEPP APLRRRAASD
GQYENQSPEA TSPRSPGVRS PVQCVSPELA LTIALNPGGR PKEPHLHSYK EAFEEMEGTS
PSSPPPSGVR SPPGLAKTPL SALGLKPHNP ADILLHPTGV TRRWIQPEED EGKVVVRLSE
EPRSYVESVA RTAVAGPRAQ DSEPKSFSAP ATQAYGHEIP LRNGTLGGSF VSPSPLSTSS
PILSADSTSV GSFPSGESSD QGPRTPTQPL LESGFRSGSL GQPSPSAQRN YQSSSPLPTV
GSSYSSPDYS LQHFSSSPES QARAQFSVAG VHTVPGSPQA RHRTVGTNTP PSPGFGWRAI
NPSMAAPSSP SLSHHQMMGP PGTGFHGSTV SSPQSSAATT PGSPSLCRHP AGVYQVSGLH
NKVATTPGSP SLGRHPGAHQ GNLASGLHSN AIASPGSPSL GRHLGGSGSV VPGSPCLDRH
VAYGGYSTPE DRRPTLSRQS SASGYQAPST PSFPVSPAYY PGLSSPATSP SPDSAAFRQG
SPTPALPEKR RMSVGDRAGS LPNYATINGK VSSPVASGMS SPSGGSTVSF SHTLPDFSKY
SMPDNSPETR AKVKFVQDTS KYWYKPEISR EQAIALLKDQ EPGAFIIRDS HSFRGAYGLA
MKVSSPPPTI MQQNKKGDMT HELVRHFLIE TGPRGVKLKG CPNEPNFGSL SALVYQHSII
PLALPCKLVI PNRDPTDESK DSSGPANSTA DLLKQGAACN VLFVNSVDME SLTGPQAISK
ATSETLAADP TPAATIVHFK VSAQGITLTD NQRKLFFRRH YPLNTVTFCD LDPQERKWMK
TEGGAPAKLF GFVARKQGST TDNACHLFAE LDPNQPASAI VNFVSKVMLN AGQKR*

speed

0.95 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: 0.999981416957724 (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)

chr2:218695102G>AN/A show variant in all transcripts IGV

HGNC symbol

TNS1

Ensembl transcript ID

ENST00000419504

Genbank transcript ID

N/A

UniProt peptide

Q9HBL0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3010C>T
cDNA.3172C>T
g.172617C>T

AA changes

R1004W Score: 101 explain score(s)

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

1004

frameshift

known variant

Reference ID: rs3796028

database	homozygous (A/A)	heterozygous	allele carriers
1000G	373	1134	1507
ExAC	7927	16913	24840

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.52	0.982
	-0.224	0.976
(flanking)	1.076	0.995

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	172607	wt: 0.8938 / mu: 0.9000 (marginal change - not scored)	wt: ACTTTACTTTTTTCCTTAGTTACCAGAAGACGGATCCAGCC mu: ACTTTACTTTTTTCCTTAGTTACCAGAAGATGGATCCAGCC	agtt\|ACCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1004

mutated

not conserved

1004

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000013785

1010

PEEDEGKV

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000055322

1159

PEEDEGEEVTKPPE

Ggallus

not conserved

ENSGALG00000011462

1105

AGADS

Trubripes

not conserved

ENSTRUG00000004813

945

Drerio

not conserved

ENSDARG00000020845

1087

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000005595

1134

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5166 / 5166

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

1722 / 1722

position of stopcodon in wt / mu cDNA

5328 / 5328

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

163 / 163

chromosome

strand

-1

last intron/exon boundary

5184

theoretical NMD boundary in CDS

4971

length of CDS

5166

coding sequence (CDS) position

3010

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

3172

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

172617

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

218695102

original gDNA sequence snippet

TTTCCTTAGTTACCAGAAGACGGATCCAGCCAGGTAGGTGG

altered gDNA sequence snippet

TTTCCTTAGTTACCAGAAGATGGATCCAGCCAGGTAGGTGG

original cDNA sequence snippet

CCACAGGAGTTACCAGAAGACGGATCCAGCCAGAGCCCCGG

altered cDNA sequence snippet

CCACAGGAGTTACCAGAAGATGGATCCAGCCAGAGCCCCGG

wildtype AA sequence

MSVSRTMEDS CELDLVYVTE RIIAVSFPST ANEENFRSNL REVAQMLKSK HGGNYLLFNL
SERRPDITKL HAKVLEFGWP DLHTPALEKI CSICKAMDTW LNADPHNVVV LHNKGNRGRI
GVVIAAYMHY SNISASADQA LDRFAMKRFY EDKIVPIGQP SQRRYVHYFS GLLSGSIKMN
NKPLFLHHVI MHGIPNFESK GGCRPFLRIY QAMQPVYTSG IYNIPGDSQT SVCITIEPGL
LLKGDILLKC YHKKFRSPAR DVIFRVQFHT CAIHDLGVVF GKEDLDDAFK DDRFPEYGKV
EFVFSYGPEK IQGMEHLENG PSVSVDYNTS DPLIRWDSYD NFSGHRDDGM EEVVGHTQGP
LDGSLYAKVK KKDSLHGSTG AVNATRPTLS ATPNHVEHTL SVSSDSGNST ASTKTDKTDE
PVPGASSATA ALSPQEKREL DRLLSGFGLE REKQGAMYHT QHLRSRPAGG SAVPSSGRHV
VPAQVHVNGG ALASERETDI LDDELPNQDG HSAGSMGTLS SLDGVTNTSE GGYPEALSPL
TNGLDKSYPM EPMVNGGGYP YESASRAGPA HAGHTAPMRP SYSAQEGLAG YQREGPHPAW
PQPVTTSHYA HDPSGMFRSQ SFSEAEPQLP PAPVRGGSSR EAVQRGLNSW QQQQQQQQQP
RPPPRQQERA HLESLVASRP SPQPLAETPI PSLPEFPRAA SQQEIEQSIE TLNMLMLDLE
PASAAAPLHK SQSVPGAWPG ASPLSSQPLS GSSRQSHPLT QSRSGYIPSG HSLGTPEPAP
RASLESVPPG RSYSPYDYQP CLAGPNQDFH SKSPASSSLP AFLPTTHSPP GPQQPPASLP
GLTAQPLLSP KEATSDPSRT PEEEPLNLEG LVAHRVAGVQ AREKQPAEPP APLRRRAASD
GQYENQSPEA TSPRSPGVRS PVQCVSPELA LTIALNPGGR PKEPHLHSYK EAFEEMEGTS
PSSPPPSGVR SPPGLAKTPL SALGLKPHNP ADILLHPTGV TRRRIQPEPR SYVESVARTA
VAGPRAQDSE PKSFSAPATQ AYGHEIPLRN GTLGGSFVSP SPLSTSSPIL SADSTSVGSF
PSGESSDQGP RTPTQPLLES GFRSGSLGQP SPSAQRNYQS SSPLPTVGSS YSSPDYSLQH
FSSSPESQAR AQFSVAGVHT VPGSPQARHR TVGTNTPPSP GFGWRAINPS MAAPSSPSLS
HHQMMGPPGT GFHGSTVSSP QSSAATTPGS PSLCRHPAGV YQVSGLHNKV ATTPGSPSLG
RHPGAHQGNL ASGLHSNAIA SPGSPSLGRH LGGSGSVVPG SPCLDRHVAY GGYSTPEDRR
PTLSRQSSAS GYQAPSTPSF PVSPAYYPGL SSPATSPSPD SAAFRQGSPT PALPEKRRMS
VGDRAGSLPN YATINGKVSS PVASGMSSPS GGSTVSFSHT LPDFSKYSMP DNSPETRAKV
KFVQDTSKYW YKPEISREQA IALLKDQEPG AFIIRDSHSF RGAYGLAMKV SSPPPTIMQQ
NKKDMTHELV RHFLIETGPR GVKLKGCPNE PNFGSLSALV YQHSIIPLAL PCKLVIPNRD
PTDESKDSSG PANSTADLLK QGAACNVLFV NSVDMESLTG PQAISKATSE TLAADPTPAA
TIVHFKVSAQ GITLTDNQRK LFFRRHYPLN TVTFCDLDPQ ERKWMKTEGG APAKLFGFVA
RKQGSTTDNA CHLFAELDPN QPASAIVNFV SKVMLNAGQK R*

mutated AA sequence

MSVSRTMEDS CELDLVYVTE RIIAVSFPST ANEENFRSNL REVAQMLKSK HGGNYLLFNL
SERRPDITKL HAKVLEFGWP DLHTPALEKI CSICKAMDTW LNADPHNVVV LHNKGNRGRI
GVVIAAYMHY SNISASADQA LDRFAMKRFY EDKIVPIGQP SQRRYVHYFS GLLSGSIKMN
NKPLFLHHVI MHGIPNFESK GGCRPFLRIY QAMQPVYTSG IYNIPGDSQT SVCITIEPGL
LLKGDILLKC YHKKFRSPAR DVIFRVQFHT CAIHDLGVVF GKEDLDDAFK DDRFPEYGKV
EFVFSYGPEK IQGMEHLENG PSVSVDYNTS DPLIRWDSYD NFSGHRDDGM EEVVGHTQGP
LDGSLYAKVK KKDSLHGSTG AVNATRPTLS ATPNHVEHTL SVSSDSGNST ASTKTDKTDE
PVPGASSATA ALSPQEKREL DRLLSGFGLE REKQGAMYHT QHLRSRPAGG SAVPSSGRHV
VPAQVHVNGG ALASERETDI LDDELPNQDG HSAGSMGTLS SLDGVTNTSE GGYPEALSPL
TNGLDKSYPM EPMVNGGGYP YESASRAGPA HAGHTAPMRP SYSAQEGLAG YQREGPHPAW
PQPVTTSHYA HDPSGMFRSQ SFSEAEPQLP PAPVRGGSSR EAVQRGLNSW QQQQQQQQQP
RPPPRQQERA HLESLVASRP SPQPLAETPI PSLPEFPRAA SQQEIEQSIE TLNMLMLDLE
PASAAAPLHK SQSVPGAWPG ASPLSSQPLS GSSRQSHPLT QSRSGYIPSG HSLGTPEPAP
RASLESVPPG RSYSPYDYQP CLAGPNQDFH SKSPASSSLP AFLPTTHSPP GPQQPPASLP
GLTAQPLLSP KEATSDPSRT PEEEPLNLEG LVAHRVAGVQ AREKQPAEPP APLRRRAASD
GQYENQSPEA TSPRSPGVRS PVQCVSPELA LTIALNPGGR PKEPHLHSYK EAFEEMEGTS
PSSPPPSGVR SPPGLAKTPL SALGLKPHNP ADILLHPTGV TRRWIQPEPR SYVESVARTA
VAGPRAQDSE PKSFSAPATQ AYGHEIPLRN GTLGGSFVSP SPLSTSSPIL SADSTSVGSF
PSGESSDQGP RTPTQPLLES GFRSGSLGQP SPSAQRNYQS SSPLPTVGSS YSSPDYSLQH
FSSSPESQAR AQFSVAGVHT VPGSPQARHR TVGTNTPPSP GFGWRAINPS MAAPSSPSLS
HHQMMGPPGT GFHGSTVSSP QSSAATTPGS PSLCRHPAGV YQVSGLHNKV ATTPGSPSLG
RHPGAHQGNL ASGLHSNAIA SPGSPSLGRH LGGSGSVVPG SPCLDRHVAY GGYSTPEDRR
PTLSRQSSAS GYQAPSTPSF PVSPAYYPGL SSPATSPSPD SAAFRQGSPT PALPEKRRMS
VGDRAGSLPN YATINGKVSS PVASGMSSPS GGSTVSFSHT LPDFSKYSMP DNSPETRAKV
KFVQDTSKYW YKPEISREQA IALLKDQEPG AFIIRDSHSF RGAYGLAMKV SSPPPTIMQQ
NKKDMTHELV RHFLIETGPR GVKLKGCPNE PNFGSLSALV YQHSIIPLAL PCKLVIPNRD
PTDESKDSSG PANSTADLLK QGAACNVLFV NSVDMESLTG PQAISKATSE TLAADPTPAA
TIVHFKVSAQ GITLTDNQRK LFFRRHYPLN TVTFCDLDPQ ERKWMKTEGG APAKLFGFVA
RKQGSTTDNA CHLFAELDPN QPASAIVNFV SKVMLNAGQK R*

speed

1.35 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.11811384634791e-07 (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)

chr2:218695102G>AN/A show variant in all transcripts IGV

HGNC symbol

TNS1

Ensembl transcript ID

ENST00000430930

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.172617C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3796028

database	homozygous (A/A)	heterozygous	allele carriers
1000G	373	1134	1507
ExAC	7927	16913	24840

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.52	0.982
	-0.224	0.976
(flanking)	1.076	0.995

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	172607	wt: 0.8938 / mu: 0.9000 (marginal change - not scored)	wt: ACTTTACTTTTTTCCTTAGTTACCAGAAGACGGATCCAGCC mu: ACTTTACTTTTTTCCTTAGTTACCAGAAGATGGATCCAGCC	agtt\|ACCA

distance from splice site

1076

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

163 / 163

chromosome

strand

-1

last intron/exon boundary

5163

theoretical NMD boundary in CDS

4950

length of CDS

5145

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)

172617

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

218695102

original gDNA sequence snippet

TTTCCTTAGTTACCAGAAGACGGATCCAGCCAGGTAGGTGG

altered gDNA sequence snippet

TTTCCTTAGTTACCAGAAGATGGATCCAGCCAGGTAGGTGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MSVSRTMEDS CELDLVYVTE RIIAVSFPST ANEENFRSNL REVAQMLKSK HGGNYLLFNL
SERRPDITKL HAKVLEFGWP DLHTPALEKI CSICKAMDTW LNADPHNVVV LHNKGNRGRI
GVVIAAYMHY SNISASADQA LDRFAMKRFY EDKIVPIGQP SQRRYVHYFS GLLSGSIKMN
NKPLFLHHVI MHGIPNFESK GGCRPFLRIY QAMQPVYTSG IYNIPGDSQT SVCITIEPGL
LLKGDILLKC YHKKFRSPAR DVIFRVQFHT CAIHDLGVVF GKEDLDDAFK DDRFPEYGKV
EFVFSYGPEK IQGMEHLENG PSVSVDYNTS DPLIRWDSYD NFSGHRDDGM EEVVGHTQGP
LDGSLYAKVK KKDSLHGSTG AVNATRPTLS ATPNHVEHTL SVSSDSGNST ASTKTDKTDE
PVPGASSATA ALSPQEKREL DRLLSGFGLE REKQGAMYHT QHLRSRPAGG SAVPSSGRHV
VPAQVHVNGG ALASERETDI LDDELPNQDG HSAGSMGTLS SLDGVTNTSE GGYPEALSPL
TNGLDKSYPM EPMVNGGGYP YESASRAGPA HAGHTAPMRP SYSAQEGLAG YQREGPHPAW
PQPVTTSHYA HDPSGMFRSQ SFSEAEPQLP PAPVRGGSSR EAVQRGLNSW QQQQQQQQQP
RPPPRQQERA HLESLVASRP SPQPLAETPI PSLPEFPRAA SQQEIEQSIE TLNMLMLDLE
PASAAAPLHK SQSVPGAWPG ASPLSSQPLS GSSRQSHPLT QSRSGYIPSG HSLGTPEPAP
RASLESVPPG RSYSPYDYQP CLAGPNQDFH SKSPASSSLP AFLPTTHSPP GPQQPPASLP
GLTAQPLLSP KEATSDPSRT PEEEPLNLEG LVAHRVAGVQ AREKQPAEPP APLRRRAASD
GQYENQSPEA TSPRSPGVRS PVQCVSPELA LTIALNPGGR PKEPHLHSYK EAFEEMEGTS
PSSPPPSGVR SPPGLAKTPL SALGLKPHNP ADILLHPTGE PRSYVESVAR TAVAGPRAQD
SEPKSFSAPA TQAYGHEIPL RNGTLGGSFV SPSPLSTSSP ILSADSTSVG SFPSGESSDQ
GPRTPTQPLL ESGFRSGSLG QPSPSAQRNY QSSSPLPTVG SSYSSPDYSL QHFSSSPESQ
ARAQFSVAGV HTVPGSPQAR HRTVGTNTPP SPGFGWRAIN PSMAAPSSPS LSHHQMMGPP
GTGFHGSTVS SPQSSAATTP GSPSLCRHPA GVYQVSGLHN KVATTPGSPS LGRHPGAHQG
NLASGLHSNA IASPGSPSLG RHLGGSGSVV PGSPCLDRHV AYGGYSTPED RRPTLSRQSS
ASGYQAPSTP SFPVSPAYYP GLSSPATSPS PDSAAFRQGS PTPALPEKRR MSVGDRAGSL
PNYATINGKV SSPVASGMSS PSGGSTVSFS HTLPDFSKYS MPDNSPETRA KVKFVQDTSK
YWYKPEISRE QAIALLKDQE PGAFIIRDSH SFRGAYGLAM KVSSPPPTIM QQNKKGDMTH
ELVRHFLIET GPRGVKLKGC PNEPNFGSLS ALVYQHSIIP LALPCKLVIP NRDPTDESKD
SSGPANSTAD LLKQGAACNV LFVNSVDMES LTGPQAISKA TSETLAADPT PAATIVHFKV
SAQGITLTDN QRKLFFRRHY PLNTVTFCDL DPQERKWMKT EGGAPAKLFG FVARKQGSTT
DNACHLFAEL DPNQPASAIV NFVSKVMLNA GQKR*

mutated AA sequence

N/A

speed

1.05 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems