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: ENST00000529101
Querying Taster for transcript #2: ENST00000530256
Querying Taster for transcript #3: ENST00000525958
Querying Taster for transcript #4: ENST00000264029
Querying Taster for transcript #5: ENST00000397925
Querying Taster for transcript #6: ENST00000450700
MT speed 0 s - this script 7.624234 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TREH	polymorphism_automatic	1.92987004155043e-09	simple_aae				R486W	single base exchange	rs2276064		show file
TREH	polymorphism_automatic	1.92987004155043e-09	simple_aae				R363W	single base exchange	rs2276064		show file
TREH	polymorphism_automatic	1.92987004155043e-09	simple_aae				R486W	single base exchange	rs2276064		show file
TREH	polymorphism_automatic	1.92987004155043e-09	simple_aae				R455W	single base exchange	rs2276064		show file
TREH	polymorphism_automatic	1.92987004155043e-09	simple_aae				R455W	single base exchange	rs2276064		show file
TREH	polymorphism_automatic	1.92987004155043e-09	simple_aae				R363W	single base exchange	rs2276064		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999807013 (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 CM135057)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:118529703G>AN/A show variant in all transcripts IGV

HGNC symbol

TREH

Ensembl transcript ID

ENST00000529101

Genbank transcript ID

N/A

UniProt peptide

O43280

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1456C>T
cDNA.1502C>T
g.20697C>T

AA changes

R486W Score: 101 explain score(s)

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

486

frameshift

known variant

Reference ID: rs2276064

database	homozygous (A/A)	heterozygous	allele carriers
1000G	100	366	466
ExAC	1453	6314	7767

known disease mutation at this position, please check HGMD for details (HGMD ID CM135057)

regulatory features

CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.081	0.003
	0.675	0.002
(flanking)	0.183	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

486

mutated

not conserved

486

Ptroglodytes

all identical

ENSPTRG00000004352

486

Mmulatta

all identical

ENSMMUG00000002549

346

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000032098

483

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012008

447

Drerio

not conserved

ENSDARG00000077911

300

Dmelanogaster

not conserved

FBgn0003748

513

Celegans

all conserved

F57B10.7

468

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1734 / 1734

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

578 / 578

position of stopcodon in wt / mu cDNA

1780 / 1780

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

47 / 47

chromosome

strand

-1

last intron/exon boundary

1646

theoretical NMD boundary in CDS

1549

length of CDS

1734

coding sequence (CDS) position

1456

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

1502

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

20697

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

118529703

original gDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered gDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

original cDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered cDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

wildtype AA sequence

MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD DKQFVDMPLS
IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE LQPWTPADWK DSPQFLQKIS
DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP ERFSLIYSEH PFIVPGGRFV EFYYWDSYWV
MEGLLLSEMA ETVKGMLQNF LDLVKTYGHV PNGGRVYYLQ RSQPPLLTLM MDCYLTHTND
TAFLQENIET LALELDFWTK NRTVSVSLEG KNYLLNRYYV PYGGPRPESY SKDVELADTL
PEGDREALWA ELKAGAESGW DFSSRWLIGG PNPNSLSGIR TSKLVPVDLN AFLCQAEELM
SNFYSRLGND SQATKYRILR SQRLAALNTV LWDEQTGAWF DYDLEKKKKN REFYPSNLTP
LWAGCFSDPG VADKALKYLE DNRILTYQYG IPTSLQKTGQ QWDFPNAWAP LQDLVIRGLA
KAPLRRAQEV AFQLAQNWIR TNFDVYSQKS AMYEKYDVSN GGQPGGGGEY EVQEGFGWTN
GVVLMLLDRY GDRLTSGPKL PFLEPHCLGP PFCPASC*

mutated AA sequence

MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD DKQFVDMPLS
IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE LQPWTPADWK DSPQFLQKIS
DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP ERFSLIYSEH PFIVPGGRFV EFYYWDSYWV
MEGLLLSEMA ETVKGMLQNF LDLVKTYGHV PNGGRVYYLQ RSQPPLLTLM MDCYLTHTND
TAFLQENIET LALELDFWTK NRTVSVSLEG KNYLLNRYYV PYGGPRPESY SKDVELADTL
PEGDREALWA ELKAGAESGW DFSSRWLIGG PNPNSLSGIR TSKLVPVDLN AFLCQAEELM
SNFYSRLGND SQATKYRILR SQRLAALNTV LWDEQTGAWF DYDLEKKKKN REFYPSNLTP
LWAGCFSDPG VADKALKYLE DNRILTYQYG IPTSLQKTGQ QWDFPNAWAP LQDLVIRGLA
KAPLRWAQEV AFQLAQNWIR TNFDVYSQKS AMYEKYDVSN GGQPGGGGEY EVQEGFGWTN
GVVLMLLDRY GDRLTSGPKL PFLEPHCLGP PFCPASC*

speed

1.19 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: 0.99999999807013 (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 CM135057)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:118529703G>AN/A show variant in all transcripts IGV

HGNC symbol

TREH

Ensembl transcript ID

ENST00000530256

Genbank transcript ID

N/A

UniProt peptide

O43280

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1087C>T
cDNA.1370C>T
g.20697C>T

AA changes

R363W Score: 101 explain score(s)

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

363

frameshift

known variant

Reference ID: rs2276064

database	homozygous (A/A)	heterozygous	allele carriers
1000G	100	366	466
ExAC	1453	6314	7767

known disease mutation at this position, please check HGMD for details (HGMD ID CM135057)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.081	0.003
	0.675	0.002
(flanking)	0.183	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

363

mutated

not conserved

363

Ptroglodytes

all identical

ENSPTRG00000004352

486

Mmulatta

all identical

ENSMMUG00000002549

346

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000032098

483

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012008

447

Drerio

not conserved

ENSDARG00000077911

300

Dmelanogaster

not conserved

FBgn0003748

513

Celegans

all conserved

F57B10.7

469

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1365 / 1365

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

455 / 455

position of stopcodon in wt / mu cDNA

1648 / 1648

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

284 / 284

chromosome

strand

-1

last intron/exon boundary

1514

theoretical NMD boundary in CDS

1180

length of CDS

1365

coding sequence (CDS) position

1087

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

1370

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

20697

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

118529703

original gDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered gDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

original cDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered cDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

wildtype AA sequence

MPNCVPGQGS CISSGRSWGR RYQRPGPAQG LTKGTEERNV PGAHSVFGAQ IRDSYWVMEG
LLLSEMAETV KGMLQNFLDL VKTYGHVPNG GRVYYLQRSQ PPLLTLMMDC YLTHTNDTAF
LQENIETLAL ELDFWTKNRT VSVSLEGKNY LLNRYYVPYG GPRPESYSKD VELADTLPEG
DREALWAELK AGAESGWDFS SRWLIGGPNP NSLSGIRTSK LVPVDLNAFL CQAEELMSNF
YSRLGNDSQA TKYRILRSQR LAALNTVLWD EQTGAWFDYD LEKKKKNREF YPSNLTPLWA
GCFSDPGVAD KALKYLEDNR ILTYQYGIPT SLQKTGQQWD FPNAWAPLQD LVIRGLAKAP
LRRAQEVAFQ LAQNWIRTNF DVYSQKSAMY EKYDVSNGGQ PGGGGEYEVQ EGFGWTNGVV
LMLLDRYGDR LTSGPKLPFL EPHCLGPPFC PASC*

mutated AA sequence

MPNCVPGQGS CISSGRSWGR RYQRPGPAQG LTKGTEERNV PGAHSVFGAQ IRDSYWVMEG
LLLSEMAETV KGMLQNFLDL VKTYGHVPNG GRVYYLQRSQ PPLLTLMMDC YLTHTNDTAF
LQENIETLAL ELDFWTKNRT VSVSLEGKNY LLNRYYVPYG GPRPESYSKD VELADTLPEG
DREALWAELK AGAESGWDFS SRWLIGGPNP NSLSGIRTSK LVPVDLNAFL CQAEELMSNF
YSRLGNDSQA TKYRILRSQR LAALNTVLWD EQTGAWFDYD LEKKKKNREF YPSNLTPLWA
GCFSDPGVAD KALKYLEDNR ILTYQYGIPT SLQKTGQQWD FPNAWAPLQD LVIRGLAKAP
LRWAQEVAFQ LAQNWIRTNF DVYSQKSAMY EKYDVSNGGQ PGGGGEYEVQ EGFGWTNGVV
LMLLDRYGDR LTSGPKLPFL EPHCLGPPFC PASC*

speed

1.27 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999807013 (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 CM135057)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:118529703G>AN/A show variant in all transcripts IGV

HGNC symbol

TREH

Ensembl transcript ID

ENST00000264029

Genbank transcript ID

N/A

UniProt peptide

O43280

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1456C>T
cDNA.1501C>T
g.20697C>T

AA changes

R486W Score: 101 explain score(s)

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

486

frameshift

known variant

Reference ID: rs2276064

database	homozygous (A/A)	heterozygous	allele carriers
1000G	100	366	466
ExAC	1453	6314	7767

known disease mutation at this position, please check HGMD for details (HGMD ID CM135057)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.081	0.003
	0.675	0.002
(flanking)	0.183	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

486

mutated

not conserved

486

Ptroglodytes

all identical

ENSPTRG00000004352

486

Mmulatta

all identical

ENSMMUG00000002549

346

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000032098

483

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012008

447

Drerio

not conserved

ENSDARG00000077911

300

Dmelanogaster

not conserved

FBgn0003748

513

Celegans

all conserved

F57B10.7

468

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1749 / 1749

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

583 / 583

position of stopcodon in wt / mu cDNA

1794 / 1794

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

46 / 46

chromosome

strand

-1

last intron/exon boundary

1750

theoretical NMD boundary in CDS

1654

length of CDS

1749

coding sequence (CDS) position

1456

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

1501

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

20697

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

118529703

original gDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered gDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

original cDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered cDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

wildtype AA sequence

mutated AA sequence

MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD DKQFVDMPLS
IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE LQPWTPADWK DSPQFLQKIS
DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP ERFSLIYSEH PFIVPGGRFV EFYYWDSYWV
MEGLLLSEMA ETVKGMLQNF LDLVKTYGHV PNGGRVYYLQ RSQPPLLTLM MDCYLTHTND
TAFLQENIET LALELDFWTK NRTVSVSLEG KNYLLNRYYV PYGGPRPESY SKDVELADTL
PEGDREALWA ELKAGAESGW DFSSRWLIGG PNPNSLSGIR TSKLVPVDLN AFLCQAEELM
SNFYSRLGND SQATKYRILR SQRLAALNTV LWDEQTGAWF DYDLEKKKKN REFYPSNLTP
LWAGCFSDPG VADKALKYLE DNRILTYQYG IPTSLQKTGQ QWDFPNAWAP LQDLVIRGLA
KAPLRWAQEV AFQLAQNWIR TNFDVYSQKS AMYEKYDVSN GGQPGGGGEY EVQEGFGWTN
GVVLMLLDRY GDRLTSGPKL PFLEPHCLAT LLPSLLLSLL PW*

speed

1.51 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999807013 (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 CM135057)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:118529703G>AN/A show variant in all transcripts IGV

HGNC symbol

TREH

Ensembl transcript ID

ENST00000525958

Genbank transcript ID

N/A

UniProt peptide

O43280

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1363C>T
cDNA.1402C>T
g.20697C>T

AA changes

R455W Score: 101 explain score(s)

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

455

frameshift

known variant

Reference ID: rs2276064

database	homozygous (A/A)	heterozygous	allele carriers
1000G	100	366	466
ExAC	1453	6314	7767

known disease mutation at this position, please check HGMD for details (HGMD ID CM135057)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.081	0.003
	0.675	0.002
(flanking)	0.183	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

455

mutated

not conserved

455

Ptroglodytes

all identical

ENSPTRG00000004352

486

Mmulatta

all identical

ENSMMUG00000002549

346

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000032098

483

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012008

447

Drerio

not conserved

ENSDARG00000077911

300

Dmelanogaster

not conserved

FBgn0003748

513

Celegans

all conserved

F57B10.7

468

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1641 / 1641

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

547 / 547

position of stopcodon in wt / mu cDNA

1680 / 1680

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

40 / 40

chromosome

strand

-1

last intron/exon boundary

1546

theoretical NMD boundary in CDS

1456

length of CDS

1641

coding sequence (CDS) position

1363

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

1402

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

20697

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

118529703

original gDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered gDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

original cDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered cDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

wildtype AA sequence

MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD DKQFVDMPLS
IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE LQPWTPADWK DSPQFLQKIS
DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP ERFSLIYSEH PFIVPGGRFV EFYYCYGHVP
NGGRVYYLQR SQPPLLTLMM DCYLTHTNDT AFLQENIETL ALELDFWTKN RTVSVSLEGK
NYLLNRYYVP YGGPRPESYS KDVELADTLP EGDREALWAE LKAGAESGWD FSSRWLIGGP
NPNSLSGIRT SKLVPVDLNA FLCQAEELMS NFYSRLGNDS QATKYRILRS QRLAALNTVL
WDEQTGAWFD YDLEKKKKNR EFYPSNLTPL WAGCFSDPGV ADKALKYLED NRILTYQYGI
PTSLQKTGQQ WDFPNAWAPL QDLVIRGLAK APLRRAQEVA FQLAQNWIRT NFDVYSQKSA
MYEKYDVSNG GQPGGGGEYE VQEGFGWTNG VVLMLLDRYG DRLTSGPKLP FLEPHCLGPP
FCPASC*

mutated AA sequence

MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD DKQFVDMPLS
IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE LQPWTPADWK DSPQFLQKIS
DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP ERFSLIYSEH PFIVPGGRFV EFYYCYGHVP
NGGRVYYLQR SQPPLLTLMM DCYLTHTNDT AFLQENIETL ALELDFWTKN RTVSVSLEGK
NYLLNRYYVP YGGPRPESYS KDVELADTLP EGDREALWAE LKAGAESGWD FSSRWLIGGP
NPNSLSGIRT SKLVPVDLNA FLCQAEELMS NFYSRLGNDS QATKYRILRS QRLAALNTVL
WDEQTGAWFD YDLEKKKKNR EFYPSNLTPL WAGCFSDPGV ADKALKYLED NRILTYQYGI
PTSLQKTGQQ WDFPNAWAPL QDLVIRGLAK APLRWAQEVA FQLAQNWIRT NFDVYSQKSA
MYEKYDVSNG GQPGGGGEYE VQEGFGWTNG VVLMLLDRYG DRLTSGPKLP FLEPHCLGPP
FCPASC*

speed

1.56 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999807013 (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 CM135057)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:118529703G>AN/A show variant in all transcripts IGV

HGNC symbol

TREH

Ensembl transcript ID

ENST00000397925

Genbank transcript ID

N/A

UniProt peptide

O43280

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1363C>T
cDNA.1408C>T
g.20697C>T

AA changes

R455W Score: 101 explain score(s)

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

455

frameshift

known variant

Reference ID: rs2276064

database	homozygous (A/A)	heterozygous	allele carriers
1000G	100	366	466
ExAC	1453	6314	7767

known disease mutation at this position, please check HGMD for details (HGMD ID CM135057)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.081	0.003
	0.675	0.002
(flanking)	0.183	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

455

mutated

not conserved

455

Ptroglodytes

all identical

ENSPTRG00000004352

486

Mmulatta

all identical

ENSMMUG00000002549

346

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000032098

483

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012008

447

Drerio

not conserved

ENSDARG00000077911

300

Dmelanogaster

not conserved

FBgn0003748

513

Celegans

all conserved

F57B10.7

468

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1656 / 1656

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

552 / 552

position of stopcodon in wt / mu cDNA

1701 / 1701

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

46 / 46

chromosome

strand

-1

last intron/exon boundary

1657

theoretical NMD boundary in CDS

1561

length of CDS

1656

coding sequence (CDS) position

1363

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

1408

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

20697

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

118529703

original gDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered gDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

original cDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered cDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

wildtype AA sequence

MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD DKQFVDMPLS
IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE LQPWTPADWK DSPQFLQKIS
DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP ERFSLIYSEH PFIVPGGRFV EFYYCYGHVP
NGGRVYYLQR SQPPLLTLMM DCYLTHTNDT AFLQENIETL ALELDFWTKN RTVSVSLEGK
NYLLNRYYVP YGGPRPESYS KDVELADTLP EGDREALWAE LKAGAESGWD FSSRWLIGGP
NPNSLSGIRT SKLVPVDLNA FLCQAEELMS NFYSRLGNDS QATKYRILRS QRLAALNTVL
WDEQTGAWFD YDLEKKKKNR EFYPSNLTPL WAGCFSDPGV ADKALKYLED NRILTYQYGI
PTSLQKTGQQ WDFPNAWAPL QDLVIRGLAK APLRRAQEVA FQLAQNWIRT NFDVYSQKSA
MYEKYDVSNG GQPGGGGEYE VQEGFGWTNG VVLMLLDRYG DRLTSGPKLP FLEPHCLATL
LPSLLLSLLP W*

mutated AA sequence

MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD DKQFVDMPLS
IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE LQPWTPADWK DSPQFLQKIS
DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP ERFSLIYSEH PFIVPGGRFV EFYYCYGHVP
NGGRVYYLQR SQPPLLTLMM DCYLTHTNDT AFLQENIETL ALELDFWTKN RTVSVSLEGK
NYLLNRYYVP YGGPRPESYS KDVELADTLP EGDREALWAE LKAGAESGWD FSSRWLIGGP
NPNSLSGIRT SKLVPVDLNA FLCQAEELMS NFYSRLGNDS QATKYRILRS QRLAALNTVL
WDEQTGAWFD YDLEKKKKNR EFYPSNLTPL WAGCFSDPGV ADKALKYLED NRILTYQYGI
PTSLQKTGQQ WDFPNAWAPL QDLVIRGLAK APLRWAQEVA FQLAQNWIRT NFDVYSQKSA
MYEKYDVSNG GQPGGGGEYE VQEGFGWTNG VVLMLLDRYG DRLTSGPKLP FLEPHCLATL
LPSLLLSLLP W*

speed

1.28 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999807013 (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 CM135057)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:118529703G>AN/A show variant in all transcripts IGV

HGNC symbol

TREH

Ensembl transcript ID

ENST00000450700

Genbank transcript ID

N/A

UniProt peptide

O43280

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1087C>T
cDNA.1370C>T
g.20697C>T

AA changes

R363W Score: 101 explain score(s)

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

363

frameshift

known variant

Reference ID: rs2276064

database	homozygous (A/A)	heterozygous	allele carriers
1000G	100	366	466
ExAC	1453	6314	7767

known disease mutation at this position, please check HGMD for details (HGMD ID CM135057)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.081	0.003
	0.675	0.002
(flanking)	0.183	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

363

mutated

not conserved

363

Ptroglodytes

all identical

ENSPTRG00000004352

486

Mmulatta

all identical

ENSMMUG00000002549

346

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000032098

483

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012008

447

Drerio

not conserved

ENSDARG00000077911

300

Dmelanogaster

not conserved

FBgn0003748

513

Celegans

all conserved

F57B10.7

469

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1380 / 1380

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

460 / 460

position of stopcodon in wt / mu cDNA

1663 / 1663

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

284 / 284

chromosome

strand

-1

last intron/exon boundary

1619

theoretical NMD boundary in CDS

1285

length of CDS

1380

coding sequence (CDS) position

1087

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

1370

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

20697

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

118529703

original gDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered gDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

original cDNA sequence snippet

TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC

altered cDNA sequence snippet

TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC

wildtype AA sequence

mutated AA sequence

MPNCVPGQGS CISSGRSWGR RYQRPGPAQG LTKGTEERNV PGAHSVFGAQ IRDSYWVMEG
LLLSEMAETV KGMLQNFLDL VKTYGHVPNG GRVYYLQRSQ PPLLTLMMDC YLTHTNDTAF
LQENIETLAL ELDFWTKNRT VSVSLEGKNY LLNRYYVPYG GPRPESYSKD VELADTLPEG
DREALWAELK AGAESGWDFS SRWLIGGPNP NSLSGIRTSK LVPVDLNAFL CQAEELMSNF
YSRLGNDSQA TKYRILRSQR LAALNTVLWD EQTGAWFDYD LEKKKKNREF YPSNLTPLWA
GCFSDPGVAD KALKYLEDNR ILTYQYGIPT SLQKTGQQWD FPNAWAPLQD LVIRGLAKAP
LRWAQEVAFQ LAQNWIRTNF DVYSQKSAMY EKYDVSNGGQ PGGGGEYEVQ EGFGWTNGVV
LMLLDRYGDR LTSGPKLPFL EPHCLATLLP SLLLSLLPW*

speed

1.27 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