MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000380252
Querying Taster for transcript #2: ENST00000380259
Querying Taster for transcript #3: ENST00000380237
Querying Taster for transcript #4: ENST00000396895
Querying Taster for transcript #5: ENST00000328813
MT speed 0 s - this script 3.625026 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR51B2	polymorphism_automatic	2.07944772512292e-13	simple_aae				C209S	single base exchange	rs7937237		show file
HBG2	polymorphism_automatic	1.48402779953649e-07	without_aae					single base exchange	rs7937237		show file
HBG2	polymorphism_automatic	1.48402779953649e-07	without_aae					single base exchange	rs7937237		show file
HBE1	polymorphism_automatic	1.48402779953649e-07	without_aae					single base exchange	rs7937237		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999792 (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)

chr11:5344902C>GN/A show variant in all transcripts IGV

HGNC symbol

OR51B2

Ensembl transcript ID

ENST00000328813

Genbank transcript ID

NM_033180

UniProt peptide

Q9Y5P1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.626G>C
cDNA.681G>C
g.681G>C

AA changes

C209S Score: 112 explain score(s)

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

209

frameshift

known variant

Reference ID: rs7937237

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1469	844	2313
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.028	0
	-0.55	0
(flanking)	0.733	0.001

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	675	wt: 0.6512 / mu: 0.6613 (marginal change - not scored)	wt: GATCTCTTTAACAATCTTCCTAGACTGTCTGATCATCCTCT mu: GATCTCTTTAACAATCTTCCTAGACTCTCTGATCATCCTCT	tcct\|AGAC

distance from splice site

362

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

209

mutated

not conserved

209

Ptroglodytes

not conserved

ENSPTRG00000032555

209

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000016607

213

protein features

start (aa)	end (aa)	feature	details
195	215	TRANSMEM	Helical; Name=5; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

939 / 939

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

313 / 313

position of stopcodon in wt / mu cDNA

994 / 994

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

56 / 56

chromosome

strand

-1

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

939

coding sequence (CDS) position

626

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

681

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

681

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

5344902

original gDNA sequence snippet

TTTAACAATCTTCCTAGACTGTCTGATCATCCTCTTCTCCT

altered gDNA sequence snippet

TTTAACAATCTTCCTAGACTCTCTGATCATCCTCTTCTCCT

original cDNA sequence snippet

TTTAACAATCTTCCTAGACTGTCTGATCATCCTCTTCTCCT

altered cDNA sequence snippet

TTTAACAATCTTCCTAGACTCTCTGATCATCCTCTTCTCCT

wildtype AA sequence

MWPNITAAPF LLTGFPGLEA AHHWISIPFF AVYVCILLGN GMLLYLIKHD HSLHEPMYYF
LTMLAGTDLM VTLTTMPTVM GILWVNHREI SSVGCFLQAY FIHSLSVVES GSLLAMAYDC
FIAIRNPLRY ASILTNTRVI ALGVGVFLRG FVSILPVILR LFSFSYCKSH VITRAFCLHQ
EIMRLACADI TFNRLYPVIL ISLTIFLDCL IILFSYILIL NTVIGIASGE ERAKALNTCI
SHISCVLIFY VTVMGLTFIY RFGKNVPEVV HIIMSYIYFL FPPLMNPVIY SIKTKQIQYG
IIRLLSKHRF SS*

mutated AA sequence

MWPNITAAPF LLTGFPGLEA AHHWISIPFF AVYVCILLGN GMLLYLIKHD HSLHEPMYYF
LTMLAGTDLM VTLTTMPTVM GILWVNHREI SSVGCFLQAY FIHSLSVVES GSLLAMAYDC
FIAIRNPLRY ASILTNTRVI ALGVGVFLRG FVSILPVILR LFSFSYCKSH VITRAFCLHQ
EIMRLACADI TFNRLYPVIL ISLTIFLDSL IILFSYILIL NTVIGIASGE ERAKALNTCI
SHISCVLIFY VTVMGLTFIY RFGKNVPEVV HIIMSYIYFL FPPLMNPVIY SIKTKQIQYG
IIRLLSKHRF SS*

speed

0.51 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: without_aae, prob: 0.99999985159722 (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)

chr11:5344902C>GN/A show variant in all transcripts IGV

HGNC symbol

HBG2

Ensembl transcript ID

ENST00000380252

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.322118G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7937237

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1469	844	2313
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.028	0
	-0.55	0
(flanking)	0.733	0.001

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	322112	wt: 0.6512 / mu: 0.6613 (marginal change - not scored)	wt: GATCTCTTTAACAATCTTCCTAGACTGTCTGATCATCCTCT mu: GATCTCTTTAACAATCTTCCTAGACTCTCTGATCATCCTCT	tcct\|AGAC

distance from splice site

69158

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

194 / 194

chromosome

strand

-1

last intron/exon boundary

479

theoretical NMD boundary in CDS

235

length of CDS

414

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)

322118

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

5344902

original gDNA sequence snippet

TTTAACAATCTTCCTAGACTGTCTGATCATCCTCTTCTCCT

altered gDNA sequence snippet

TTTAACAATCTTCCTAGACTCTCTGATCATCCTCTTCTCCT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVVLGEMKRK VLPLHFLPFM RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK VKAHGKKVLT
SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG KEFTPEVQAS
WQKMVTGVAS ALSSRYH*

mutated AA sequence

N/A

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.99999985159722 (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)

chr11:5344902C>GN/A show variant in all transcripts IGV

HGNC symbol

HBG2

Ensembl transcript ID

ENST00000380259

Genbank transcript ID

NM_000184

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.322118G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7937237

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1469	844	2313
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.028	0
	-0.55	0
(flanking)	0.733	0.001

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	322112	wt: 0.6512 / mu: 0.6613 (marginal change - not scored)	wt: GATCTCTTTAACAATCTTCCTAGACTGTCTGATCATCCTCT mu: GATCTCTTTAACAATCTTCCTAGACTCTCTGATCATCCTCT	tcct\|AGAC

distance from splice site

22101

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

1242 / 1242

chromosome

strand

-1

last intron/exon boundary

1557

theoretical NMD boundary in CDS

265

length of CDS

444

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)

322118

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

5344902

original gDNA sequence snippet

TTTAACAATCTTCCTAGACTGTCTGATCATCCTCTTCTCCT

altered gDNA sequence snippet

TTTAACAATCTTCCTAGACTCTCTGATCATCCTCTTCTCCT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK
VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG
KEFTPEVQAS WQKMVTGVAS ALSSRYH*

mutated AA sequence

N/A

speed

0.54 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.99999985159722 (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)

chr11:5344902C>GN/A show variant in all transcripts IGV

HGNC symbol

HBE1

Ensembl transcript ID

ENST00000380237

Genbank transcript ID

NM_005330

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.181946G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7937237

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1469	844	2313
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.028	0
	-0.55	0
(flanking)	0.733	0.001

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	181940	wt: 0.6512 / mu: 0.6613 (marginal change - not scored)	wt: GATCTCTTTAACAATCTTCCTAGACTGTCTGATCATCCTCT mu: GATCTCTTTAACAATCTTCCTAGACTCTCTGATCATCCTCT	tcct\|AGAC

distance from splice site

41721

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

346 / 346

chromosome

strand

-1

last intron/exon boundary

661

theoretical NMD boundary in CDS

265

length of CDS

444

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)

181946

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

5344902

original gDNA sequence snippet

TTTAACAATCTTCCTAGACTGTCTGATCATCCTCTTCTCCT

altered gDNA sequence snippet

TTTAACAATCTTCCTAGACTCTCTGATCATCCTCTTCTCCT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVHFTAEEKA AVTSLWSKMN VEEAGGEALG RLLVVYPWTQ RFFDSFGNLS SPSAILGNPK
VKAHGKKVLT SFGDAIKNMD NLKPAFAKLS ELHCDKLHVD PENFKLLGNV MVIILATHFG
KEFTPEVQAA WQKLVSAVAI ALAHKYH*

mutated AA sequence

N/A

speed

0.48 s

Problems

annotation problem

The chosen transcript ENST00000396895 on chromosome 11 has no correct in-frame stop codon (TGA, TAA or TAG) annotated
This is likely to cause a false prediction. You should choose another transcript.

back to results table