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: ENST00000319416
Querying Taster for transcript #2: ENST00000367643
Querying Taster for transcript #3: ENST00000367642
Querying Taster for transcript #4: ENST00000367641
Querying Taster for transcript #5: ENST00000367639
Querying Taster for transcript #6: ENST00000258298
MT speed 0 s - this script 3.257472 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TEX35	polymorphism_automatic	1.14047404853324e-09	simple_aae				L95R	single base exchange	rs3813636		show file
TEX35	polymorphism_automatic	3.43792605494997e-09	simple_aae				L171R	single base exchange	rs3813636		show file
TEX35	polymorphism_automatic	3.43792605494997e-09	simple_aae				L171R	single base exchange	rs3813636		show file
TEX35	polymorphism_automatic	3.43792605494997e-09	simple_aae				L171R	single base exchange	rs3813636		show file
TEX35	polymorphism_automatic	3.43792605494997e-09	simple_aae				L179R	single base exchange	rs3813636		show file
TEX35	polymorphism_automatic	6.96149017986869e-07	without_aae					single base exchange	rs3813636		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999998859526 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:178489978T>GN/A show variant in all transcripts IGV

HGNC symbol

TEX35

Ensembl transcript ID

ENST00000258298

Genbank transcript ID

N/A

UniProt peptide

Q5T0J7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.284T>G
cDNA.624T>G
g.7767T>G

AA changes

L95R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs3813636

database	homozygous (G/G)	heterozygous	allele carriers
1000G	365	1118	1483
ExAC	9961	12845	22806

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.047	0.001
	0.439	0.012
(flanking)	1.166	0.021

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

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000001720

171

Mmulatta

all identical

ENSMMUG00000021077

171

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026592

169

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
45	111	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

540 / 540

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

180 / 180

position of stopcodon in wt / mu cDNA

880 / 880

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

341 / 341

chromosome

strand

last intron/exon boundary

854

theoretical NMD boundary in CDS

463

length of CDS

540

coding sequence (CDS) position

284

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

624

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

7767

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

178489978

original gDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered gDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

original cDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered cDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

wildtype AA sequence

MDKDFDKLHE FVEIMKEMQK DMDEKMDILI NTQKNYKLPL RRAPKEQQEL RLMGKTHREP
QLRPKKMDGA SGVNGAPCAL HKKTMAPQKT KQGSLDPLHH CGTCCEKCLL CALKNNYNRA
APLKEARHLL TANSIDPSAA LVLLIEFLLL TLVTGAAAPG LDACGHQRNM RDEINSERR*

mutated AA sequence

MDKDFDKLHE FVEIMKEMQK DMDEKMDILI NTQKNYKLPL RRAPKEQQEL RLMGKTHREP
QLRPKKMDGA SGVNGAPCAL HKKTMAPQKT KQGSRDPLHH CGTCCEKCLL CALKNNYNRA
APLKEARHLL TANSIDPSAA LVLLIEFLLL TLVTGAAAPG LDACGHQRNM RDEINSERR*

speed

0.37 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: 0.999999996562074 (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)

chr1:178489978T>GN/A show variant in all transcripts IGV

HGNC symbol

TEX35

Ensembl transcript ID

ENST00000319416

Genbank transcript ID

NM_032126

UniProt peptide

Q5T0J7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.512T>G
cDNA.624T>G
g.7767T>G

AA changes

L171R Score: 102 explain score(s)

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

171

frameshift

known variant

Reference ID: rs3813636

database	homozygous (G/G)	heterozygous	allele carriers
1000G	365	1118	1483
ExAC	9961	12845	22806

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.047	0.001
	0.439	0.012
(flanking)	1.166	0.021

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

171

mutated

not conserved

171

Ptroglodytes

all identical

ENSPTRG00000001720

171

Mmulatta

all identical

ENSMMUG00000021077

171

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026592

169

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

702 / 702

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

234 / 234

position of stopcodon in wt / mu cDNA

814 / 814

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

113 / 113

chromosome

strand

last intron/exon boundary

699

theoretical NMD boundary in CDS

536

length of CDS

702

coding sequence (CDS) position

512

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

624

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

7767

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

178489978

original gDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered gDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

original cDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered cDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

wildtype AA sequence

MSAKRAELKK THLSKNYKAV CLELKPEPTK TFDYKAVKQE GRFTKAGVTQ DLKNELREVR
EELKEKMEEI KQIKDLMDKD FDKLHEFVEI MKEMQKDMDE KMDILINTQK NYKLPLRRAP
KEQQELRLMG KTHREPQLRP KKMDGASGVN GAPCALHKKT MAPQKTKQGS LDPLHHCGTC
CEKCLLCALK NNYNRGNIPS EASGLYKGGE EPVTTQPSVG HAVPAPKSQT EGR*

mutated AA sequence

MSAKRAELKK THLSKNYKAV CLELKPEPTK TFDYKAVKQE GRFTKAGVTQ DLKNELREVR
EELKEKMEEI KQIKDLMDKD FDKLHEFVEI MKEMQKDMDE KMDILINTQK NYKLPLRRAP
KEQQELRLMG KTHREPQLRP KKMDGASGVN GAPCALHKKT MAPQKTKQGS RDPLHHCGTC
CEKCLLCALK NNYNRGNIPS EASGLYKGGE EPVTTQPSVG HAVPAPKSQT EGR*

speed

0.45 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999996562074 (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)

chr1:178489978T>GN/A show variant in all transcripts IGV

HGNC symbol

TEX35

Ensembl transcript ID

ENST00000367643

Genbank transcript ID

NM_001170723

UniProt peptide

Q5T0J7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.512T>G
cDNA.589T>G
g.7767T>G

AA changes

L171R Score: 102 explain score(s)

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

171

frameshift

known variant

Reference ID: rs3813636

database	homozygous (G/G)	heterozygous	allele carriers
1000G	365	1118	1483
ExAC	9961	12845	22806

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.047	0.001
	0.439	0.012
(flanking)	1.166	0.021

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

171

mutated

not conserved

171

Ptroglodytes

all identical

ENSPTRG00000001720

171

Mmulatta

all identical

ENSMMUG00000021077

171

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026592

169

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

639 / 639

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

213 / 213

position of stopcodon in wt / mu cDNA

716 / 716

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

78 / 78

chromosome

strand

last intron/exon boundary

664

theoretical NMD boundary in CDS

536

length of CDS

639

coding sequence (CDS) position

512

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

589

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

7767

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

178489978

original gDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered gDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

original cDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered cDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

wildtype AA sequence

mutated AA sequence

speed

0.45 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999996562074 (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)

chr1:178489978T>GN/A show variant in all transcripts IGV

HGNC symbol

TEX35

Ensembl transcript ID

ENST00000367641

Genbank transcript ID

N/A

UniProt peptide

Q5T0J7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.512T>G
cDNA.571T>G
g.7767T>G

AA changes

L171R Score: 102 explain score(s)

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

171

frameshift

known variant

Reference ID: rs3813636

database	homozygous (G/G)	heterozygous	allele carriers
1000G	365	1118	1483
ExAC	9961	12845	22806

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.047	0.001
	0.439	0.012
(flanking)	1.166	0.021

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

171

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

171

mutated

not conserved

171

Ptroglodytes

all identical

ENSPTRG00000001720

171

Mmulatta

all identical

ENSMMUG00000021077

171

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026592

169

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

606 / 606

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

202 / 202

position of stopcodon in wt / mu cDNA

665 / 665

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

60 / 60

chromosome

strand

last intron/exon boundary

401

theoretical NMD boundary in CDS

291

length of CDS

606

coding sequence (CDS) position

512

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

571

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

7767

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

178489978

original gDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered gDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

original cDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered cDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

wildtype AA sequence

mutated AA sequence

speed

0.42 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999996562074 (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)

chr1:178489978T>GN/A show variant in all transcripts IGV

HGNC symbol

TEX35

Ensembl transcript ID

ENST00000367639

Genbank transcript ID

NM_001170722

UniProt peptide

Q5T0J7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.536T>G
cDNA.581T>G
g.7767T>G

AA changes

L179R Score: 102 explain score(s)

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

179

frameshift

known variant

Reference ID: rs3813636

database	homozygous (G/G)	heterozygous	allele carriers
1000G	365	1118	1483
ExAC	9961	12845	22806

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.047	0.001
	0.439	0.012
(flanking)	1.166	0.021

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

179

mutated

not conserved

179

Ptroglodytes

all identical

ENSPTRG00000001720

171

Mmulatta

all identical

ENSMMUG00000021077

171

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026592

169

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

648 / 648

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

216 / 216

position of stopcodon in wt / mu cDNA

693 / 693

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

last intron/exon boundary

656

theoretical NMD boundary in CDS

560

length of CDS

648

coding sequence (CDS) position

536

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

581

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

7767

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

178489978

original gDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered gDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

original cDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered cDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

wildtype AA sequence

MSAKRAELKK THLVKERHCW TSKNYKAVCL ELKPEPTKTF DYKAVKQEGR FTKAGVTQDL
KNELREVREE LKEKMEEIKQ IKDLMDKDFD KLHEFVEIMK EMQKDMDEKM DILINTQKNY
KLPLRRAPKE QQELRLMGKT HREPQLRPKK MDGASGVNGA PCALHKKTMA PQKTKQGSLD
PLHHCGTCCE KCLLCALKNN YNRGIYAAVG LLDLW*

mutated AA sequence

speed

0.36 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999303850982 (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)

chr1:178489978T>GN/A show variant in all transcripts IGV

HGNC symbol

TEX35

Ensembl transcript ID

ENST00000367642

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.647T>G
g.7767T>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3813636

database	homozygous (G/G)	heterozygous	allele carriers
1000G	365	1118	1483
ExAC	9961	12845	22806

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.047	0.001
	0.439	0.012
(flanking)	1.166	0.021

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

327

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

72 / 72

chromosome

strand

last intron/exon boundary

321

theoretical NMD boundary in CDS

199

length of CDS

300

coding sequence (CDS) position

N/A

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

647

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

7767

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

178489978

original gDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered gDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

original cDNA sequence snippet

AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG

altered cDNA sequence snippet

AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG

wildtype AA sequence

MSAKRAELKK THLSKNYKAV CLELKPEPTK VRSPFEAMQA ARPEIHGEVT RSQGSFADPS
GQDLSQTFDY KAVKQEGRFT KAGRTPRLLE ELSLLLLPL*

mutated AA sequence

N/A

speed

0.39 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