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: ENST00000300778
MT speed 0 s - this script 3.829154 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR51Q1	polymorphism_automatic	2.97037640040188e-08	simple_aae		affected		V211M	single base exchange	rs2736586		show file
HBG2	polymorphism_automatic	0.999999981190931	without_aae					single base exchange	rs2736586		show file
HBG2	polymorphism_automatic	0.999999981190931	without_aae					single base exchange	rs2736586		show file
HBE1	polymorphism_automatic	0.999999981190931	without_aae					single base exchange	rs2736586		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999970296236 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:5444061G>AN/A show variant in all transcripts IGV

HGNC symbol

OR51Q1

Ensembl transcript ID

ENST00000300778

Genbank transcript ID

NM_001004757

UniProt peptide

Q8NH59

alteration type

single base exchange

alteration region

CDS

DNA changes

c.631G>A
cDNA.721G>A
g.721G>A

AA changes

V211M Score: 21 explain score(s)

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

211

frameshift

known variant

Reference ID: rs2736586

database	homozygous (A/A)	heterozygous	allele carriers
1000G	587	1098	1685
ExAC	11783	9201	20984

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.306	0.024
	-0.259	0.023
(flanking)	4.626	0.928

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 increased	724	wt: 0.63 / mu: 0.82	wt: CCTTGCTCATTATTATCGTGGATCCTCTGCTCATTGTGATC mu: CCTTGCTCATTATTATCATGGATCCTCTGCTCATTGTGATC	gtgg\|ATCC
Acc marginally increased	721	wt: 0.2582 / mu: 0.2926 (marginal change - not scored)	wt: TTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCATTGTG mu: TTGCCTTGCTCATTATTATCATGGATCCTCTGCTCATTGTG	atcg\|TGGA
Acc marginally increased	716	wt: 0.3085 / mu: 0.3282 (marginal change - not scored)	wt: TGCTCTTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCA mu: TGCTCTTGCCTTGCTCATTATTATCATGGATCCTCTGCTCA	ttat\|TATC
Acc marginally increased	718	wt: 0.7006 / mu: 0.7204 (marginal change - not scored)	wt: CTCTTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCATT mu: CTCTTGCCTTGCTCATTATTATCATGGATCCTCTGCTCATT	atta\|TCGT

distance from splice site

376

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

211

mutated

all conserved

211

Ptroglodytes

all conserved

ENSPTRG00000003248

211

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000094063

217

Ggallus

all conserved

ENSGALG00000017348

209

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000016607

210

protein features

start (aa)	end (aa)	feature	details
199	219	TRANSMEM	Helical; Name=5; (Potential).	lost
220	239	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
240	260	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)
261	275	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
276	296	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
297	317	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

954 / 954

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

318 / 318

position of stopcodon in wt / mu cDNA

1044 / 1044

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

91 / 91

chromosome

strand

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

954

coding sequence (CDS) position

631

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

721

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

721

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

5444061

original gDNA sequence snippet

TTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCATTGTG

altered gDNA sequence snippet

TTGCCTTGCTCATTATTATCATGGATCCTCTGCTCATTGTG

original cDNA sequence snippet

TTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCATTGTG

altered cDNA sequence snippet

TTGCCTTGCTCATTATTATCATGGATCCTCTGCTCATTGTG

wildtype AA sequence

MSQVTNTTQE GIYFILTDIP GFEASHIWIS IPVCCLYTIS IMGNTTILTV IRTEPSVHQR
MYLFLSMLAL TDLGLTLTTL PTVMQLLWFN VRRISSEACF AQFFFLHGFS FMESSVLLAM
SVDCYVAICC PLHYASILTN EVIGRTGLAI ICCCVLAVLP SLFLLKRLPF CHSHLLSRSY
CLHQDMIRLV CADIRLNSWY GFALALLIII VDPLLIVISY TLILKNILGT ATWAERLRAL
NNCLSHILAV LVLYIPMVGV SMTHRFAKHA SPLVHVIMAN IYLLAPPVMN PIIYSVKNKQ
IQWGMLNFLS LKNMHSR*

mutated AA sequence

MSQVTNTTQE GIYFILTDIP GFEASHIWIS IPVCCLYTIS IMGNTTILTV IRTEPSVHQR
MYLFLSMLAL TDLGLTLTTL PTVMQLLWFN VRRISSEACF AQFFFLHGFS FMESSVLLAM
SVDCYVAICC PLHYASILTN EVIGRTGLAI ICCCVLAVLP SLFLLKRLPF CHSHLLSRSY
CLHQDMIRLV CADIRLNSWY GFALALLIII MDPLLIVISY TLILKNILGT ATWAERLRAL
NNCLSHILAV LVLYIPMVGV SMTHRFAKHA SPLVHVIMAN IYLLAPPVMN PIIYSVKNKQ
IQWGMLNFLS LKNMHSR*

speed

0.75 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: 1.88090692127118e-08 (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)

chr11:5444061G>AN/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.222959C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2736586

database	homozygous (A/A)	heterozygous	allele carriers
1000G	587	1098	1685
ExAC	11783	9201	20984

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.306	0.024
	-0.259	0.023
(flanking)	4.626	0.928

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

82520

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)

222959

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

5444061

original gDNA sequence snippet

CACAATGAGCAGAGGATCCACGATAATAATGAGCAAGGCAA

altered gDNA sequence snippet

CACAATGAGCAGAGGATCCATGATAATAATGAGCAAGGCAA

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

0.61 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.88090692127118e-08 (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)

chr11:5444061G>AN/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.222959C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2736586

database	homozygous (A/A)	heterozygous	allele carriers
1000G	587	1098	1685
ExAC	11783	9201	20984

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.306	0.024
	-0.259	0.023
(flanking)	4.626	0.928

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

76932

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)

222959

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

5444061

original gDNA sequence snippet

CACAATGAGCAGAGGATCCACGATAATAATGAGCAAGGCAA

altered gDNA sequence snippet

CACAATGAGCAGAGGATCCATGATAATAATGAGCAAGGCAA

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

0.64 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.88090692127118e-08 (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)

chr11:5444061G>AN/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.82787C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2736586

database	homozygous (A/A)	heterozygous	allele carriers
1000G	587	1098	1685
ExAC	11783	9201	20984

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.306	0.024
	-0.259	0.023
(flanking)	4.626	0.928

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

82738

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)

82787

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

5444061

original gDNA sequence snippet

CACAATGAGCAGAGGATCCACGATAATAATGAGCAAGGCAA

altered gDNA sequence snippet

CACAATGAGCAGAGGATCCATGATAATAATGAGCAAGGCAA

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

0.57 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