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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000265022
Querying Taster for transcript #2: ENST00000344484
Querying Taster for transcript #3: ENST00000382164
Querying Taster for transcript #4: ENST00000544847
MT speed 0 s - this script 4.677289 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DGKG	polymorphism_automatic	5.80102632596891e-12	simple_aae				T142S	single base exchange	rs1004588		show file
DGKG	polymorphism_automatic	5.80102632596891e-12	simple_aae				T142S	single base exchange	rs1004588		show file
DGKG	polymorphism_automatic	5.80102632596891e-12	simple_aae				T142S	single base exchange	rs1004588		show file
DGKG	polymorphism_automatic	5.80102632596891e-12	simple_aae				T142S	single base exchange	rs1004588		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999994199 (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)

chr3:186006618G>CN/A show variant in all transcripts IGV

HGNC symbol

DGKG

Ensembl transcript ID

ENST00000344484

Genbank transcript ID

NM_001080744

UniProt peptide

P49619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.425C>G
cDNA.716C>G
g.73409C>G

AA changes

T142S Score: 58 explain score(s)

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

142

frameshift

known variant

Reference ID: rs1004588

database	homozygous (C/C)	heterozygous	allele carriers
1000G	672	1255	1927
ExAC	16711	-655	16056

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.924	0.002
	0.77	0.001
(flanking)	0.102	0

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

142

mutated

all conserved

142

Ptroglodytes

all identical

ENSPTRG00000015710

142

Mmulatta

all identical

ENSMMUG00000021972

142

Fcatus

all identical

ENSFCAG00000005036

141

Mmusculus

not conserved

ENSMUSG00000022861

139

Ggallus

not conserved

ENSGALG00000005721

121

Trubripes

not conserved

ENSTRUG00000015988

137

Drerio

all conserved

ENSDARG00000062696

172

Dmelanogaster

not conserved

FBgn0085390

285

Celegans

not conserved

F54G8.2

139

VCIP

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2301 / 2301

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

767 / 767

position of stopcodon in wt / mu cDNA

2592 / 2592

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

292 / 292

chromosome

strand

-1

last intron/exon boundary

2494

theoretical NMD boundary in CDS

2152

length of CDS

2301

coding sequence (CDS) position

425

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

716

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

73409

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

186006618

original gDNA sequence snippet

TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC

altered gDNA sequence snippet

TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC

original cDNA sequence snippet

TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC

altered cDNA sequence snippet

TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC

wildtype AA sequence

MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ATPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEVMQHAWV EGNSSVKCDR CHKSIKCYQS
VTARHCVWCR MTFHRKCELS TLCDGGELRD HILLPTSICP ITRDRPGEKS DGCVSAKGEL
VMQYKIIPTP GTHPLLVLVN PKSGGRQGER LNFFRDTPDF RVLACGGDGT VGWILDCIDK
ANFAKHPPVA VLPLGTGNDL ARCLRWGGGY EGGSLTKILK DIEQSPLVML DRWHLEVIPR
EEVENGDQVP YSIMNNYFSI GVDASIAHRF HVMREKHPEK FNSRMKNKLW YFEFGTSETF
AATCKKLHDH IELECDGVGV DLSNIFLEGI AILNIPSMYG GTNLWGENKK NRAVIRESRK
GVTDPKELKF CVQDLSDQLL EVVGLEGAME MGQIYTGLKS AGRRLAQCAS VTIRTNKLLP
MQVDGEPWMQ PCCTIKITHK NQAPMMMGPP QKSSFFSLRR KSRSKD*

mutated AA sequence

MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ASPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEVMQHAWV EGNSSVKCDR CHKSIKCYQS
VTARHCVWCR MTFHRKCELS TLCDGGELRD HILLPTSICP ITRDRPGEKS DGCVSAKGEL
VMQYKIIPTP GTHPLLVLVN PKSGGRQGER LNFFRDTPDF RVLACGGDGT VGWILDCIDK
ANFAKHPPVA VLPLGTGNDL ARCLRWGGGY EGGSLTKILK DIEQSPLVML DRWHLEVIPR
EEVENGDQVP YSIMNNYFSI GVDASIAHRF HVMREKHPEK FNSRMKNKLW YFEFGTSETF
AATCKKLHDH IELECDGVGV DLSNIFLEGI AILNIPSMYG GTNLWGENKK NRAVIRESRK
GVTDPKELKF CVQDLSDQLL EVVGLEGAME MGQIYTGLKS AGRRLAQCAS VTIRTNKLLP
MQVDGEPWMQ PCCTIKITHK NQAPMMMGPP QKSSFFSLRR KSRSKD*

speed

1.06 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: 0.999999999994199 (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)

chr3:186006618G>CN/A show variant in all transcripts IGV

HGNC symbol

DGKG

Ensembl transcript ID

ENST00000265022

Genbank transcript ID

NM_001346

UniProt peptide

P49619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.425C>G
cDNA.965C>G
g.73409C>G

AA changes

T142S Score: 58 explain score(s)

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

142

frameshift

known variant

Reference ID: rs1004588

database	homozygous (C/C)	heterozygous	allele carriers
1000G	672	1255	1927
ExAC	16711	-655	16056

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.924	0.002
	0.77	0.001
(flanking)	0.102	0

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

142

mutated

all conserved

142

Ptroglodytes

all identical

ENSPTRG00000015710

142

Mmulatta

all identical

ENSMMUG00000021972

142

Fcatus

all identical

ENSFCAG00000005036

141

Mmusculus

not conserved

ENSMUSG00000022861

139

Ggallus

not conserved

ENSGALG00000005721

121

Trubripes

not conserved

ENSTRUG00000015988

137

Drerio

all conserved

ENSDARG00000062696

172

Dmelanogaster

not conserved

FBgn0085390

285

Celegans

not conserved

F54G8.2

139

VCIP

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2376 / 2376

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

792 / 792

position of stopcodon in wt / mu cDNA

2916 / 2916

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

541 / 541

chromosome

strand

-1

last intron/exon boundary

2818

theoretical NMD boundary in CDS

2227

length of CDS

2376

coding sequence (CDS) position

425

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

965

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

73409

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

186006618

original gDNA sequence snippet

TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC

altered gDNA sequence snippet

TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC

original cDNA sequence snippet

TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC

altered cDNA sequence snippet

TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC

wildtype AA sequence

MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ATPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEVMQHAWV EGNSSVKCDR CHKSIKCYQS
VTARHCVWCR MTFHRKCELS TLCDGGELRD HILLPTSICP ITRDRPGEKS DGCVSAKGEL
VMQYKIIPTP GTHPLLVLVN PKSGGRQGER ILRKFHYLLN PKQVFNLDNG GPTPGLNFFR
DTPDFRVLAC GGDGTVGWIL DCIDKANFAK HPPVAVLPLG TGNDLARCLR WGGGYEGGSL
TKILKDIEQS PLVMLDRWHL EVIPREEVEN GDQVPYSIMN NYFSIGVDAS IAHRFHVMRE
KHPEKFNSRM KNKLWYFEFG TSETFAATCK KLHDHIELEC DGVGVDLSNI FLEGIAILNI
PSMYGGTNLW GENKKNRAVI RESRKGVTDP KELKFCVQDL SDQLLEVVGL EGAMEMGQIY
TGLKSAGRRL AQCASVTIRT NKLLPMQVDG EPWMQPCCTI KITHKNQAPM MMGPPQKSSF
FSLRRKSRSK D*

mutated AA sequence

MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ASPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEVMQHAWV EGNSSVKCDR CHKSIKCYQS
VTARHCVWCR MTFHRKCELS TLCDGGELRD HILLPTSICP ITRDRPGEKS DGCVSAKGEL
VMQYKIIPTP GTHPLLVLVN PKSGGRQGER ILRKFHYLLN PKQVFNLDNG GPTPGLNFFR
DTPDFRVLAC GGDGTVGWIL DCIDKANFAK HPPVAVLPLG TGNDLARCLR WGGGYEGGSL
TKILKDIEQS PLVMLDRWHL EVIPREEVEN GDQVPYSIMN NYFSIGVDAS IAHRFHVMRE
KHPEKFNSRM KNKLWYFEFG TSETFAATCK KLHDHIELEC DGVGVDLSNI FLEGIAILNI
PSMYGGTNLW GENKKNRAVI RESRKGVTDP KELKFCVQDL SDQLLEVVGL EGAMEMGQIY
TGLKSAGRRL AQCASVTIRT NKLLPMQVDG EPWMQPCCTI KITHKNQAPM MMGPPQKSSF
FSLRRKSRSK D*

speed

0.58 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999994199 (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)

chr3:186006618G>CN/A show variant in all transcripts IGV

HGNC symbol

DGKG

Ensembl transcript ID

ENST00000382164

Genbank transcript ID

NM_001080745

UniProt peptide

P49619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.425C>G
cDNA.685C>G
g.73409C>G

AA changes

T142S Score: 58 explain score(s)

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

142

frameshift

known variant

Reference ID: rs1004588

database	homozygous (C/C)	heterozygous	allele carriers
1000G	672	1255	1927
ExAC	16711	-655	16056

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.924	0.002
	0.77	0.001
(flanking)	0.102	0

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

142

mutated

all conserved

142

Ptroglodytes

all identical

ENSPTRG00000015710

142

Mmulatta

all identical

ENSMMUG00000021972

142

Fcatus

all identical

ENSFCAG00000005036

141

Mmusculus

not conserved

ENSMUSG00000022861

139

Ggallus

not conserved

ENSGALG00000005721

121

Trubripes

not conserved

ENSTRUG00000015988

137

Drerio

all conserved

ENSDARG00000062696

172

Dmelanogaster

not conserved

FBgn0085390

285

Celegans

not conserved

F54G8.2

139

VCIP

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2259 / 2259

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

753 / 753

position of stopcodon in wt / mu cDNA

2519 / 2519

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

261 / 261

chromosome

strand

-1

last intron/exon boundary

2421

theoretical NMD boundary in CDS

2110

length of CDS

2259

coding sequence (CDS) position

425

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

685

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

73409

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

186006618

original gDNA sequence snippet

TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC

altered gDNA sequence snippet

TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC

original cDNA sequence snippet

TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC

altered cDNA sequence snippet

TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC

wildtype AA sequence

MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ATPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEFHRKCEL STLCDGGELR DHILLPTSIC
PITRDRPGEK SDGCVSAKGE LVMQYKIIPT PGTHPLLVLV NPKSGGRQGE RILRKFHYLL
NPKQVFNLDN GGPTPGLNFF RDTPDFRVLA CGGDGTVGWI LDCIDKANFA KHPPVAVLPL
GTGNDLARCL RWGGGYEGGS LTKILKDIEQ SPLVMLDRWH LEVIPREEVE NGDQVPYSIM
NNYFSIGVDA SIAHRFHVMR EKHPEKFNSR MKNKLWYFEF GTSETFAATC KKLHDHIELE
CDGVGVDLSN IFLEGIAILN IPSMYGGTNL WGENKKNRAV IRESRKGVTD PKELKFCVQD
LSDQLLEVVG LEGAMEMGQI YTGLKSAGRR LAQCASVTIR TNKLLPMQVD GEPWMQPCCT
IKITHKNQAP MMMGPPQKSS FFSLRRKSRS KD*

mutated AA sequence

MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ASPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEFHRKCEL STLCDGGELR DHILLPTSIC
PITRDRPGEK SDGCVSAKGE LVMQYKIIPT PGTHPLLVLV NPKSGGRQGE RILRKFHYLL
NPKQVFNLDN GGPTPGLNFF RDTPDFRVLA CGGDGTVGWI LDCIDKANFA KHPPVAVLPL
GTGNDLARCL RWGGGYEGGS LTKILKDIEQ SPLVMLDRWH LEVIPREEVE NGDQVPYSIM
NNYFSIGVDA SIAHRFHVMR EKHPEKFNSR MKNKLWYFEF GTSETFAATC KKLHDHIELE
CDGVGVDLSN IFLEGIAILN IPSMYGGTNL WGENKKNRAV IRESRKGVTD PKELKFCVQD
LSDQLLEVVG LEGAMEMGQI YTGLKSAGRR LAQCASVTIR TNKLLPMQVD GEPWMQPCCT
IKITHKNQAP MMMGPPQKSS FFSLRRKSRS KD*

speed

0.55 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999994199 (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)

chr3:186006618G>CN/A show variant in all transcripts IGV

HGNC symbol

DGKG

Ensembl transcript ID

ENST00000544847

Genbank transcript ID

N/A

UniProt peptide

P49619

alteration type

single base exchange

alteration region

CDS

DNA changes

c.425C>G
cDNA.960C>G
g.73409C>G

AA changes

T142S Score: 58 explain score(s)

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

142

frameshift

known variant

Reference ID: rs1004588

database	homozygous (C/C)	heterozygous	allele carriers
1000G	672	1255	1927
ExAC	16711	-655	16056

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.924	0.002
	0.77	0.001
(flanking)	0.102	0

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

142

mutated

all conserved

142

Ptroglodytes

all identical

ENSPTRG00000015710

142

Mmulatta

all identical

ENSMMUG00000021972

142

Fcatus

all identical

ENSFCAG00000005036

141

Mmusculus

not conserved

ENSMUSG00000022861

139

Ggallus

not conserved

ENSGALG00000005721

121

Trubripes

not conserved

ENSTRUG00000015988

137

Drerio

all conserved

ENSDARG00000062696

172

Dmelanogaster

not conserved

FBgn0085390

285

Celegans

not conserved

F54G8.2

139

VCIP

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2199 / 2199

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

733 / 733

position of stopcodon in wt / mu cDNA

2734 / 2734

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

536 / 536

chromosome

strand

-1

last intron/exon boundary

2636

theoretical NMD boundary in CDS

2050

length of CDS

2199

coding sequence (CDS) position

425

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

960

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

73409

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

186006618

original gDNA sequence snippet

TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC

altered gDNA sequence snippet

TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC

original cDNA sequence snippet

TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC

altered cDNA sequence snippet

TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC

wildtype AA sequence

MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ATPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEFHRKCEL STLCDGGELR DHILLPTSIC
PITRYKIIPT PGTHPLLVLV NPKSGGRQGE RILRKFHYLL NPKQVFNLDN GGPTPGLNFF
RDTPDFRVLA CGGDGTVGWI LDCIDKANFA KHPPVAVLPL GTGNDLARCL RWGGGYEGGS
LTKILKDIEQ SPLVMLDRWH LEVIPREEVE NGDQVPYSIM NNYFSIGVDA SIAHRFHVMR
EKHPEKFNSR MKNKLWYFEF GTSETFAATC KKLHDHIELE CDGVGVDLSN IFLEGIAILN
IPSMYGGTNL WGENKKNRAV IRESRKGVTD PKELKFCVQD LSDQLLEVVG LEGAMEMGQI
YTGLKSAGRR LAQCASVTIR TNKLLPMQVD GEPWMQPCCT IKITHKNQAP MMMGPPQKSS
FFSLRRKSRS KD*

mutated AA sequence

MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ASPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEFHRKCEL STLCDGGELR DHILLPTSIC
PITRYKIIPT PGTHPLLVLV NPKSGGRQGE RILRKFHYLL NPKQVFNLDN GGPTPGLNFF
RDTPDFRVLA CGGDGTVGWI LDCIDKANFA KHPPVAVLPL GTGNDLARCL RWGGGYEGGS
LTKILKDIEQ SPLVMLDRWH LEVIPREEVE NGDQVPYSIM NNYFSIGVDA SIAHRFHVMR
EKHPEKFNSR MKNKLWYFEF GTSETFAATC KKLHDHIELE CDGVGVDLSN IFLEGIAILN
IPSMYGGTNL WGENKKNRAV IRESRKGVTD PKELKFCVQD LSDQLLEVVG LEGAMEMGQI
YTGLKSAGRR LAQCASVTIR TNKLLPMQVD GEPWMQPCCT IKITHKNQAP MMMGPPQKSS
FFSLRRKSRS KD*

speed

0.87 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

Problems