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: ENST00000251101
Querying Taster for transcript #2: ENST00000340116
Querying Taster for transcript #3: ENST00000580982
Querying Taster for transcript #4: ENST00000585128
Querying Taster for transcript #5: ENST00000383578
Querying Taster for transcript #6: ENST00000539164
MT speed 0 s - this script 5.275407 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ENOSF1	polymorphism_automatic	9.36147934305076e-06	simple_aae				M145T	single base exchange	rs2612086		show file
ENOSF1	polymorphism_automatic	9.36147934305076e-06	simple_aae				M166T	single base exchange	rs2612086		show file
ENOSF1	polymorphism_automatic	9.36147934305076e-06	simple_aae				M63T	single base exchange	rs2612086		show file
ENOSF1	polymorphism_automatic	9.36147934305076e-06	simple_aae				M63T	single base exchange	rs2612086		show file
ENOSF1	polymorphism_automatic	0.999999425104647	without_aae					single base exchange	rs2612086		show file
ENOSF1	polymorphism_automatic	0.999999425104647	without_aae					single base exchange	rs2612086		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999990638520657 (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)

chr18:691266A>GN/A show variant in all transcripts IGV

HGNC symbol

ENOSF1

Ensembl transcript ID

ENST00000251101

Genbank transcript ID

NM_017512

UniProt peptide

Q7L5Y1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.434T>C
cDNA.523T>C
g.21411T>C

AA changes

M145T Score: 81 explain score(s)

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

145

frameshift

known variant

Reference ID: rs2612086

database	homozygous (G/G)	heterozygous	allele carriers
1000G	179	922	1101
ExAC	6474	19819	26293

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.97
	0.145	0.953
(flanking)	0.872	0.958

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

145

mutated

not conserved

145

Ptroglodytes

not conserved

ENSPTRG00000009823

145

Mmulatta

no alignment

ENSMMUG00000004051

n/a

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000002621

142

Drerio

not conserved

ENSDARG00000038359

144

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
143	147	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1332 / 1332

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

444 / 444

position of stopcodon in wt / mu cDNA

1421 / 1421

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

90 / 90

chromosome

strand

-1

last intron/exon boundary

1320

theoretical NMD boundary in CDS

1180

length of CDS

1332

coding sequence (CDS) position

434

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

523

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

21411

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

691266

original gDNA sequence snippet

ACGTTGCCAGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered gDNA sequence snippet

ACGTTGCCAGGATCCCAGGACGCTGGTATCCTGCATAGATT

original cDNA sequence snippet

TGTGGACATGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered cDNA sequence snippet

TGTGGACATGGATCCCAGGACGCTGGTATCCTGCATAGATT

wildtype AA sequence

MVRGRISRLS VRDVRFPTSL GGHGADAMHT DPDYSAAYVV IETDAEDGIK GCGITFTLGK
GTEVVVCAVN ALAHHVLNKD LKDIVGDFRG FYRQLTSDGQ LRWIGPEKGV VHLATAAVLN
AVWDLWAKQE GKPVWKLLVD MDPRMLVSCI DFRYITDVLT EEDALEILQK GQIGKKEREK
QMLAQGYPAY TTSCAWLGYS DDTLKQLCAQ ALKDGWTRFK VKVGADLQDD MRRCQIIRDM
IGPEKTLMMD ANQRWDVPEA VEWMSKLAKF KPLWIEEPTS PDDILGHATI SKALVPLGIG
IATGEQCHNR VIFKQLLQAK ALQFLQIDSC RLGSVNENLS VLLMAKKFEI PVCPHAGGVG
LCELVQHLII FDYISVSASL ENRVCEYVDH LHEHFKYPVM IQRASYMPPK DPGYSTEMKE
ESVKKHQYPD GEVWKKLLPA QEN*

mutated AA sequence

MVRGRISRLS VRDVRFPTSL GGHGADAMHT DPDYSAAYVV IETDAEDGIK GCGITFTLGK
GTEVVVCAVN ALAHHVLNKD LKDIVGDFRG FYRQLTSDGQ LRWIGPEKGV VHLATAAVLN
AVWDLWAKQE GKPVWKLLVD MDPRTLVSCI DFRYITDVLT EEDALEILQK GQIGKKEREK
QMLAQGYPAY TTSCAWLGYS DDTLKQLCAQ ALKDGWTRFK VKVGADLQDD MRRCQIIRDM
IGPEKTLMMD ANQRWDVPEA VEWMSKLAKF KPLWIEEPTS PDDILGHATI SKALVPLGIG
IATGEQCHNR VIFKQLLQAK ALQFLQIDSC RLGSVNENLS VLLMAKKFEI PVCPHAGGVG
LCELVQHLII FDYISVSASL ENRVCEYVDH LHEHFKYPVM IQRASYMPPK DPGYSTEMKE
ESVKKHQYPD GEVWKKLLPA QEN*

speed

0.83 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: 0.999990638520657 (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)

chr18:691266A>GN/A show variant in all transcripts IGV

HGNC symbol

ENOSF1

Ensembl transcript ID

ENST00000340116

Genbank transcript ID

NM_202758

UniProt peptide

Q7L5Y1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.497T>C
cDNA.535T>C
g.21411T>C

AA changes

M166T Score: 81 explain score(s)

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

166

frameshift

known variant

Reference ID: rs2612086

database	homozygous (G/G)	heterozygous	allele carriers
1000G	179	922	1101
ExAC	6474	19819	26293

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.97
	0.145	0.953
(flanking)	0.872	0.958

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

166

mutated

not conserved

166

Ptroglodytes

not conserved

ENSPTRG00000009823

145

Mmulatta

no alignment

ENSMMUG00000004051

n/a

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000002621

142

Drerio

not conserved

ENSDARG00000038359

144

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
161	170	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1353 / 1353

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

451 / 451

position of stopcodon in wt / mu cDNA

1391 / 1391

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

39 / 39

chromosome

strand

-1

last intron/exon boundary

1290

theoretical NMD boundary in CDS

1201

length of CDS

1353

coding sequence (CDS) position

497

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

535

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

21411

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

691266

original gDNA sequence snippet

ACGTTGCCAGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered gDNA sequence snippet

ACGTTGCCAGGATCCCAGGACGCTGGTATCCTGCATAGATT

original cDNA sequence snippet

TGTGGACATGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered cDNA sequence snippet

TGTGGACATGGATCCCAGGACGCTGGTATCCTGCATAGATT

wildtype AA sequence

MVSADAMVSA DAMVSADAMV SADAMVSADA MVSADAMVSA DAMVSADAMH TDPDYSAAYV
VIETDAEDGI KGCGITFTLG KGTEVVVCAV NALAHHVLNK DLKDIVGDFR GFYRQLTSDG
QLRWIGPEKG VVHLATAAVL NAVWDLWAKQ EGKPVWKLLV DMDPRMLVSC IDFRYITDVL
TEEDALEILQ KGQIGKKERE KQMLAQGYPA YTTSCAWLGY SDDTLKQLCA QALKDGWTRF
KVKVGADLQD DMRRCQIIRD MIGPEKTLMM DANQRWDVPE AVEWMSKLAK FKPLWIEEPT
SPDDILGHAT ISKCHNRVIF KQLLQAKALQ FLQIDSCRLG SVNENLSVLL MAKKFEIPVC
PHAGGVGLCE LVQHLIIFDY ISVSASLENR VCEYVDHLHE HFKYPVMIQR ASYMPPKDPG
YSTEMKEESV KKHQYPDGEV WKKLLPAQEN *

mutated AA sequence

MVSADAMVSA DAMVSADAMV SADAMVSADA MVSADAMVSA DAMVSADAMH TDPDYSAAYV
VIETDAEDGI KGCGITFTLG KGTEVVVCAV NALAHHVLNK DLKDIVGDFR GFYRQLTSDG
QLRWIGPEKG VVHLATAAVL NAVWDLWAKQ EGKPVWKLLV DMDPRTLVSC IDFRYITDVL
TEEDALEILQ KGQIGKKERE KQMLAQGYPA YTTSCAWLGY SDDTLKQLCA QALKDGWTRF
KVKVGADLQD DMRRCQIIRD MIGPEKTLMM DANQRWDVPE AVEWMSKLAK FKPLWIEEPT
SPDDILGHAT ISKCHNRVIF KQLLQAKALQ FLQIDSCRLG SVNENLSVLL MAKKFEIPVC
PHAGGVGLCE LVQHLIIFDY ISVSASLENR VCEYVDHLHE HFKYPVMIQR ASYMPPKDPG
YSTEMKEESV KKHQYPDGEV WKKLLPAQEN *

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999990638520657 (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)

chr18:691266A>GN/A show variant in all transcripts IGV

HGNC symbol

ENOSF1

Ensembl transcript ID

ENST00000585128

Genbank transcript ID

N/A

UniProt peptide

Q7L5Y1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.188T>C
cDNA.234T>C
g.21411T>C

AA changes

M63T Score: 81 explain score(s)

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

frameshift

known variant

Reference ID: rs2612086

database	homozygous (G/G)	heterozygous	allele carriers
1000G	179	922	1101
ExAC	6474	19819	26293

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.97
	0.145	0.953
(flanking)	0.872	0.958

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

not conserved

ENSPTRG00000009823

145

Mmulatta

no alignment

ENSMMUG00000004051

n/a

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000002621

142

Drerio

not conserved

ENSDARG00000038359

144

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
62	72	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1086 / 1086

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

362 / 362

position of stopcodon in wt / mu cDNA

1132 / 1132

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

1031

theoretical NMD boundary in CDS

934

length of CDS

1086

coding sequence (CDS) position

188

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

234

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

21411

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

691266

original gDNA sequence snippet

ACGTTGCCAGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered gDNA sequence snippet

ACGTTGCCAGGATCCCAGGACGCTGGTATCCTGCATAGATT

original cDNA sequence snippet

TGTGGACATGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered cDNA sequence snippet

TGTGGACATGGATCCCAGGACGCTGGTATCCTGCATAGATT

wildtype AA sequence

MQKMESRGVE LPSLWEKALK LIGPEKGVVH LATAAVLNAV WDLWAKQEGK PVWKLLVDMD
PRMLVSCIDF RYITDVLTEE DALEILQKGQ IGKKEREKQM LAQGYPAYTT SCAWLGYSDD
TLKQLCAQAL KDGWTRFKVK VGADLQDDMR RCQIIRDMIG PEKTLMMDAN QRWDVPEAVE
WMSKLAKFKP LWIEEPTSPD DILGHATISK ALVPLGIGIA TGEQCHNRVI FKQLLQAKAL
QFLQIDSCRL GSVNENLSVL LMAKKFEIPV CPHAGGVGLC ELVQHLIIFD YISVSASLEN
RVCEYVDHLH EHFKYPVMIQ RASYMPPKDP GYSTEMKEES VKKHQYPDGE VWKKLLPAQE
N*

mutated AA sequence

MQKMESRGVE LPSLWEKALK LIGPEKGVVH LATAAVLNAV WDLWAKQEGK PVWKLLVDMD
PRTLVSCIDF RYITDVLTEE DALEILQKGQ IGKKEREKQM LAQGYPAYTT SCAWLGYSDD
TLKQLCAQAL KDGWTRFKVK VGADLQDDMR RCQIIRDMIG PEKTLMMDAN QRWDVPEAVE
WMSKLAKFKP LWIEEPTSPD DILGHATISK ALVPLGIGIA TGEQCHNRVI FKQLLQAKAL
QFLQIDSCRL GSVNENLSVL LMAKKFEIPV CPHAGGVGLC ELVQHLIIFD YISVSASLEN
RVCEYVDHLH EHFKYPVMIQ RASYMPPKDP GYSTEMKEES VKKHQYPDGE VWKKLLPAQE
N*

speed

0.94 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999990638520657 (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)

chr18:691266A>GN/A show variant in all transcripts IGV

HGNC symbol

ENOSF1

Ensembl transcript ID

ENST00000383578

Genbank transcript ID

NM_001126123

UniProt peptide

Q7L5Y1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.188T>C
cDNA.393T>C
g.21411T>C

AA changes

M63T Score: 81 explain score(s)

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

frameshift

known variant

Reference ID: rs2612086

database	homozygous (G/G)	heterozygous	allele carriers
1000G	179	922	1101
ExAC	6474	19819	26293

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.97
	0.145	0.953
(flanking)	0.872	0.958

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

not conserved

ENSPTRG00000009823

145

Mmulatta

no alignment

ENSMMUG00000004051

n/a

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000002621

142

Drerio

not conserved

ENSDARG00000038359

144

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
62	72	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1086 / 1086

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

362 / 362

position of stopcodon in wt / mu cDNA

1291 / 1291

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

206 / 206

chromosome

strand

-1

last intron/exon boundary

1436

theoretical NMD boundary in CDS

1180

length of CDS

1086

coding sequence (CDS) position

188

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

393

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

21411

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

691266

original gDNA sequence snippet

ACGTTGCCAGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered gDNA sequence snippet

ACGTTGCCAGGATCCCAGGACGCTGGTATCCTGCATAGATT

original cDNA sequence snippet

TGTGGACATGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered cDNA sequence snippet

TGTGGACATGGATCCCAGGACGCTGGTATCCTGCATAGATT

wildtype AA sequence

mutated AA sequence

speed

0.84 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 5.74895352831988e-07 (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)

chr18:691266A>GN/A show variant in all transcripts IGV

HGNC symbol

ENOSF1

Ensembl transcript ID

ENST00000580982

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.21411T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2612086

database	homozygous (G/G)	heterozygous	allele carriers
1000G	179	922	1101
ExAC	6474	19819	26293

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.97
	0.145	0.953
(flanking)	0.872	0.958

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

635

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

29 / 29

chromosome

strand

-1

last intron/exon boundary

1031

theoretical NMD boundary in CDS

952

length of CDS

1104

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)

21411

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

691266

original gDNA sequence snippet

ACGTTGCCAGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered gDNA sequence snippet

ACGTTGCCAGGATCCCAGGACGCTGGTATCCTGCATAGATT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVRGRISRLS VRDVRFPTSL GGHGADAMHT DPDYSAAYVV IETDAEDGIK GCGITFTLGK
GTEVDWSRKG RGAPGDSGRP KRGVGLVGQA GGKACLEVTC GHEKQMLAQG YPAYTTSCAW
LGYSDDTLKQ LCAQALKDGW TRFKVKVGAD LQDDMRRCQI IRDMIGPEKT LMMDANQRWD
VPEAVEWMSK LAKFKPLWIE EPTSPDDILG HATISKALVP LGIGIATGEQ CHNRVIFKQL
LQAKALQFLQ IDSCRLGSVN ENLSVLLMAK KFEIPVCPHA GGVGLCELVQ HLIIFDYISV
SASLENRVCE YVDHLHEHFK YPVMIQRASY MPPKDPGYST EMKEESVKKH QYPDGEVWKK
LLPAQEN*

mutated AA sequence

N/A

speed

0.63 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 5.74895352831988e-07 (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)

chr18:691266A>GN/A show variant in all transcripts IGV

HGNC symbol

ENOSF1

Ensembl transcript ID

ENST00000539164

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.863T>C
g.21411T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2612086

database	homozygous (G/G)	heterozygous	allele carriers
1000G	179	922	1101
ExAC	6474	19819	26293

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.97
	0.145	0.953
(flanking)	0.872	0.958

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

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

24 / 24

chromosome

strand

-1

last intron/exon boundary

853

theoretical NMD boundary in CDS

779

length of CDS

429

coding sequence (CDS) position

N/A

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

863

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

21411

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

691266

original gDNA sequence snippet

ACGTTGCCAGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered gDNA sequence snippet

ACGTTGCCAGGATCCCAGGACGCTGGTATCCTGCATAGATT

original cDNA sequence snippet

TAGATTCAAGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered cDNA sequence snippet

TAGATTCAAGGATCCCAGGACGCTGGTATCCTGCATAGATT

wildtype AA sequence

MVRGRISRLS VRDVRFPTSL GGHGADAMHT DPDYSAAYVV IETDAEDGIK GCGITFTLGK
GTEVVVCAVN ALAHHVLNKD LKDIVGDFRG FYRQLTSDGQ LRWIGPEKGV VHLATAAVLN
AVWDLWAKQE GKPVWKLLVD MG*

mutated AA sequence

N/A

speed

0.90 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