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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000492607
Querying Taster for transcript #2: ENST00000326442
Querying Taster for transcript #3: ENST00000447204
Querying Taster for transcript #4: ENST00000429904
Querying Taster for transcript #5: ENST00000450753
Querying Taster for transcript #6: ENST00000434545
Querying Taster for transcript #7: ENST00000528038
MT speed 0 s - this script 5.221472 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TMEM176B	polymorphism_automatic	0.356444844293185	simple_aae				A134T	single base exchange	rs2072443		show file
TMEM176B	polymorphism_automatic	0.356444844293185	simple_aae				A134T	single base exchange	rs2072443		show file
TMEM176B	polymorphism_automatic	0.356444844293185	simple_aae				A134T	single base exchange	rs2072443		show file
TMEM176B	polymorphism_automatic	0.356444844293185	simple_aae				A97T	single base exchange	rs2072443		show file
TMEM176B	polymorphism_automatic	0.356444844293185	simple_aae				A134T	single base exchange	rs2072443		show file
TMEM176B	polymorphism_automatic	0.356444844293185	simple_aae				A134T	single base exchange	rs2072443		show file
TMEM176B	polymorphism_automatic	0.356444844293185	simple_aae				A134T	single base exchange	rs2072443		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.643555155706815 (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)

chr7:150490376C>TN/A show variant in all transcripts IGV

HGNC symbol

TMEM176B

Ensembl transcript ID

ENST00000492607

Genbank transcript ID

N/A

UniProt peptide

Q3YBM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.400G>A
cDNA.606G>A
g.8075G>A

AA changes

A134T Score: 58 explain score(s)

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

134

frameshift

known variant

Reference ID: rs2072443

database	homozygous (T/T)	heterozygous	allele carriers
1000G	464	1113	1577
ExAC	10720	11327	22047

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.292	0.96
	0.653	0.971
(flanking)	1.38	0.977

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	8072	wt: 0.5139 / mu: 0.5149 (marginal change - not scored)	wt: ATATATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCT mu: ATATATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCT	accc\|TGGC
Acc marginally increased	8078	wt: 0.6832 / mu: 0.7124 (marginal change - not scored)	wt: CCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATGGCT mu: CCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATGGCT	gcag\|GCTT
Donor marginally increased	8073	wt: 0.8601 / mu: 0.9180 (marginal change - not scored)	wt: CACCCTGGCAGGCTT mu: CACCCTGACAGGCTT	CCCT\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

134

mutated

not conserved

134

Ptroglodytes

all identical

ENSPTRG00000019863

134

Mmulatta

all identical

ENSMMUG00000008596

134

Fcatus

all identical

ENSFCAG00000013796

134

Mmusculus

all identical

ENSMUSG00000029810

128

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
127	147	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

813 / 813

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

271 / 271

position of stopcodon in wt / mu cDNA

1019 / 1019

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

207 / 207

chromosome

strand

-1

last intron/exon boundary

927

theoretical NMD boundary in CDS

670

length of CDS

813

coding sequence (CDS) position

400

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

606

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

8075

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

150490376

original gDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered gDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

original cDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered cDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

wildtype AA sequence

MTQNTVIVNG VAMASRPSQP THVNVHIHQE SALTQLLKAG GSLKKFLFHP GDTVPSTARI
GYEQLALGVT QILLGVVSCV LGVCLSLGPW TVLSASGCAF WAGSVVIAAG AGAIVHEKHP
GKLAGYISSL LTLAGFATAM AAVVLCVNSF IWQTEPFLYI DTVCDRSDPV FPTTGYRWMR
RSQENQWQKE ECRAYMQMLR KLFTAIRALF LAVCVLKVIV SLVSLGVGLR NLCGQSSQPL
NEEGSEKRLL GENSVPPSPS REQTSTAIVL *

mutated AA sequence

MTQNTVIVNG VAMASRPSQP THVNVHIHQE SALTQLLKAG GSLKKFLFHP GDTVPSTARI
GYEQLALGVT QILLGVVSCV LGVCLSLGPW TVLSASGCAF WAGSVVIAAG AGAIVHEKHP
GKLAGYISSL LTLTGFATAM AAVVLCVNSF IWQTEPFLYI DTVCDRSDPV FPTTGYRWMR
RSQENQWQKE ECRAYMQMLR KLFTAIRALF LAVCVLKVIV SLVSLGVGLR NLCGQSSQPL
NEEGSEKRLL GENSVPPSPS REQTSTAIVL *

speed

0.70 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: 0.643555155706815 (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)

chr7:150490376C>TN/A show variant in all transcripts IGV

HGNC symbol

TMEM176B

Ensembl transcript ID

ENST00000326442

Genbank transcript ID

N/A

UniProt peptide

Q3YBM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.400G>A
cDNA.472G>A
g.8075G>A

AA changes

A134T Score: 58 explain score(s)

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

134

frameshift

known variant

Reference ID: rs2072443

database	homozygous (T/T)	heterozygous	allele carriers
1000G	464	1113	1577
ExAC	10720	11327	22047

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.292	0.96
	0.653	0.971
(flanking)	1.38	0.977

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	8072	wt: 0.5139 / mu: 0.5149 (marginal change - not scored)	wt: ATATATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCT mu: ATATATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCT	accc\|TGGC
Acc marginally increased	8078	wt: 0.6832 / mu: 0.7124 (marginal change - not scored)	wt: CCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATGGCT mu: CCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATGGCT	gcag\|GCTT
Donor marginally increased	8073	wt: 0.8601 / mu: 0.9180 (marginal change - not scored)	wt: CACCCTGGCAGGCTT mu: CACCCTGACAGGCTT	CCCT\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

134

mutated

not conserved

134

Ptroglodytes

all identical

ENSPTRG00000019863

134

Mmulatta

all identical

ENSMMUG00000008596

134

Fcatus

all identical

ENSFCAG00000013796

134

Mmusculus

all identical

ENSMUSG00000029810

128

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
127	147	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

813 / 813

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

271 / 271

position of stopcodon in wt / mu cDNA

885 / 885

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

73 / 73

chromosome

strand

-1

last intron/exon boundary

793

theoretical NMD boundary in CDS

670

length of CDS

813

coding sequence (CDS) position

400

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

472

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

8075

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

150490376

original gDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered gDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

original cDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered cDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

wildtype AA sequence

mutated AA sequence

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.643555155706815 (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)

chr7:150490376C>TN/A show variant in all transcripts IGV

HGNC symbol

TMEM176B

Ensembl transcript ID

ENST00000447204

Genbank transcript ID

NM_014020

UniProt peptide

Q3YBM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.400G>A
cDNA.773G>A
g.8075G>A

AA changes

A134T Score: 58 explain score(s)

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

134

frameshift

known variant

Reference ID: rs2072443

database	homozygous (T/T)	heterozygous	allele carriers
1000G	464	1113	1577
ExAC	10720	11327	22047

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.292	0.96
	0.653	0.971
(flanking)	1.38	0.977

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	8072	wt: 0.5139 / mu: 0.5149 (marginal change - not scored)	wt: ATATATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCT mu: ATATATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCT	accc\|TGGC
Acc marginally increased	8078	wt: 0.6832 / mu: 0.7124 (marginal change - not scored)	wt: CCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATGGCT mu: CCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATGGCT	gcag\|GCTT
Donor marginally increased	8073	wt: 0.8601 / mu: 0.9180 (marginal change - not scored)	wt: CACCCTGGCAGGCTT mu: CACCCTGACAGGCTT	CCCT\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

134

mutated

not conserved

134

Ptroglodytes

all identical

ENSPTRG00000019863

134

Mmulatta

all identical

ENSMMUG00000008596

134

Fcatus

all identical

ENSFCAG00000013796

134

Mmusculus

all identical

ENSMUSG00000029810

128

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
127	147	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

813 / 813

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

271 / 271

position of stopcodon in wt / mu cDNA

1186 / 1186

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

374 / 374

chromosome

strand

-1

last intron/exon boundary

1094

theoretical NMD boundary in CDS

670

length of CDS

813

coding sequence (CDS) position

400

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

773

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

8075

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

150490376

original gDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered gDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

original cDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered cDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

wildtype AA sequence

mutated AA sequence

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.643555155706815 (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)

chr7:150490376C>TN/A show variant in all transcripts IGV

HGNC symbol

TMEM176B

Ensembl transcript ID

ENST00000450753

Genbank transcript ID

NM_001101314

UniProt peptide

Q3YBM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.289G>A
cDNA.364G>A
g.8075G>A

AA changes

A97T Score: 58 explain score(s)

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

frameshift

known variant

Reference ID: rs2072443

database	homozygous (T/T)	heterozygous	allele carriers
1000G	464	1113	1577
ExAC	10720	11327	22047

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.292	0.96
	0.653	0.971
(flanking)	1.38	0.977

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	8072	wt: 0.5139 / mu: 0.5149 (marginal change - not scored)	wt: ATATATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCT mu: ATATATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCT	accc\|TGGC
Acc marginally increased	8078	wt: 0.6832 / mu: 0.7124 (marginal change - not scored)	wt: CCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATGGCT mu: CCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATGGCT	gcag\|GCTT
Donor marginally increased	8073	wt: 0.8601 / mu: 0.9180 (marginal change - not scored)	wt: CACCCTGGCAGGCTT mu: CACCCTGACAGGCTT	CCCT\|ggca

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

ENSPTRG00000019863

134

Mmulatta

all identical

ENSMMUG00000008596

134

Fcatus

all identical

ENSFCAG00000013796

134

Mmusculus

all identical

ENSMUSG00000029810

128

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
95	115	TRANSMEM	Helical; (Potential).	lost

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

777 / 777

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

76 / 76

chromosome

strand

-1

last intron/exon boundary

685

theoretical NMD boundary in CDS

559

length of CDS

702

coding sequence (CDS) position

289

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

364

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

8075

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

150490376

original gDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered gDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

original cDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered cDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

wildtype AA sequence

MTQNTVIVNG VAMASRPSQP THVNVHIHQE SALTQLLKAG GSLKKFLFHP GDTVPSTARI
GYEQLALGVI AAGAGAIVHE KHPGKLAGYI SSLLTLAGFA TAMAAVVLCV NSFIWQTEPF
LYIDTVCDRS DPVFPTTGYR WMRRSQENQW QKEECRAYMQ MLRKLFTAIR ALFLAVCVLK
VIVSLVSLGV GLRNLCGQSS QPLNEEGSEK RLLGENSVPP SPSREQTSTA IVL*

mutated AA sequence

MTQNTVIVNG VAMASRPSQP THVNVHIHQE SALTQLLKAG GSLKKFLFHP GDTVPSTARI
GYEQLALGVI AAGAGAIVHE KHPGKLAGYI SSLLTLTGFA TAMAAVVLCV NSFIWQTEPF
LYIDTVCDRS DPVFPTTGYR WMRRSQENQW QKEECRAYMQ MLRKLFTAIR ALFLAVCVLK
VIVSLVSLGV GLRNLCGQSS QPLNEEGSEK RLLGENSVPP SPSREQTSTA IVL*

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.643555155706815 (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)

chr7:150490376C>TN/A show variant in all transcripts IGV

HGNC symbol

TMEM176B

Ensembl transcript ID

ENST00000429904

Genbank transcript ID

N/A

UniProt peptide

Q3YBM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.400G>A
cDNA.563G>A
g.8075G>A

AA changes

A134T Score: 58 explain score(s)

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

134

frameshift

known variant

Reference ID: rs2072443

database	homozygous (T/T)	heterozygous	allele carriers
1000G	464	1113	1577
ExAC	10720	11327	22047

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.292	0.96
	0.653	0.971
(flanking)	1.38	0.977

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	8072	wt: 0.5139 / mu: 0.5149 (marginal change - not scored)	wt: ATATATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCT mu: ATATATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCT	accc\|TGGC
Acc marginally increased	8078	wt: 0.6832 / mu: 0.7124 (marginal change - not scored)	wt: CCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATGGCT mu: CCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATGGCT	gcag\|GCTT
Donor marginally increased	8073	wt: 0.8601 / mu: 0.9180 (marginal change - not scored)	wt: CACCCTGGCAGGCTT mu: CACCCTGACAGGCTT	CCCT\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

134

mutated

not conserved

134

Ptroglodytes

all identical

ENSPTRG00000019863

134

Mmulatta

all identical

ENSMMUG00000008596

134

Fcatus

all identical

ENSFCAG00000013796

134

Mmusculus

all identical

ENSMUSG00000029810

128

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
127	147	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

813 / 813

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

271 / 271

position of stopcodon in wt / mu cDNA

976 / 976

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

164 / 164

chromosome

strand

-1

last intron/exon boundary

884

theoretical NMD boundary in CDS

670

length of CDS

813

coding sequence (CDS) position

400

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

563

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

8075

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

150490376

original gDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered gDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

original cDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered cDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

wildtype AA sequence

mutated AA sequence

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.643555155706815 (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)

chr7:150490376C>TN/A show variant in all transcripts IGV

HGNC symbol

TMEM176B

Ensembl transcript ID

ENST00000434545

Genbank transcript ID

NM_001101311

UniProt peptide

Q3YBM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.400G>A
cDNA.651G>A
g.8075G>A

AA changes

A134T Score: 58 explain score(s)

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

134

frameshift

known variant

Reference ID: rs2072443

database	homozygous (T/T)	heterozygous	allele carriers
1000G	464	1113	1577
ExAC	10720	11327	22047

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.292	0.96
	0.653	0.971
(flanking)	1.38	0.977

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	8072	wt: 0.5139 / mu: 0.5149 (marginal change - not scored)	wt: ATATATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCT mu: ATATATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCT	accc\|TGGC
Acc marginally increased	8078	wt: 0.6832 / mu: 0.7124 (marginal change - not scored)	wt: CCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATGGCT mu: CCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATGGCT	gcag\|GCTT
Donor marginally increased	8073	wt: 0.8601 / mu: 0.9180 (marginal change - not scored)	wt: CACCCTGGCAGGCTT mu: CACCCTGACAGGCTT	CCCT\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

134

mutated

not conserved

134

Ptroglodytes

all identical

ENSPTRG00000019863

134

Mmulatta

all identical

ENSMMUG00000008596

134

Fcatus

all identical

ENSFCAG00000013796

134

Mmusculus

all identical

ENSMUSG00000029810

128

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
127	147	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

813 / 813

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

271 / 271

position of stopcodon in wt / mu cDNA

1064 / 1064

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

252 / 252

chromosome

strand

-1

last intron/exon boundary

972

theoretical NMD boundary in CDS

670

length of CDS

813

coding sequence (CDS) position

400

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

651

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

8075

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

150490376

original gDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered gDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

original cDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered cDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

wildtype AA sequence

mutated AA sequence

speed

0.73 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.643555155706815 (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)

chr7:150490376C>TN/A show variant in all transcripts IGV

HGNC symbol

TMEM176B

Ensembl transcript ID

ENST00000528038

Genbank transcript ID

N/A

UniProt peptide

Q3YBM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.400G>A
cDNA.1610G>A
g.8075G>A

AA changes

A134T Score: 58 explain score(s)

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

134

frameshift

known variant

Reference ID: rs2072443

database	homozygous (T/T)	heterozygous	allele carriers
1000G	464	1113	1577
ExAC	10720	11327	22047

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.292	0.96
	0.653	0.971
(flanking)	1.38	0.977

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	8072	wt: 0.5139 / mu: 0.5149 (marginal change - not scored)	wt: ATATATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCT mu: ATATATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCT	accc\|TGGC
Acc marginally increased	8078	wt: 0.6832 / mu: 0.7124 (marginal change - not scored)	wt: CCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATGGCT mu: CCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATGGCT	gcag\|GCTT
Donor marginally increased	8073	wt: 0.8601 / mu: 0.9180 (marginal change - not scored)	wt: CACCCTGGCAGGCTT mu: CACCCTGACAGGCTT	CCCT\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

134

mutated

not conserved

134

Ptroglodytes

all identical

ENSPTRG00000019863

134

Mmulatta

all identical

ENSMMUG00000008596

134

Fcatus

all identical

ENSFCAG00000013796

134

Mmusculus

all identical

ENSMUSG00000029810

128

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
127	147	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

813 / 813

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

271 / 271

position of stopcodon in wt / mu cDNA

2023 / 2023

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

1211 / 1211

chromosome

strand

-1

last intron/exon boundary

1931

theoretical NMD boundary in CDS

670

length of CDS

813

coding sequence (CDS) position

400

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

1610

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

8075

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

150490376

original gDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered gDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

original cDNA sequence snippet

TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG

altered cDNA sequence snippet

TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG

wildtype AA sequence

mutated AA sequence

speed

0.71 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

mutation t@sting

Prediction

polymorphism

Problems