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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000167462
Querying Taster for transcript #2: ENST00000375227
Querying Taster for transcript #3: ENST00000392550
Querying Taster for transcript #4: ENST00000578363
Querying Taster for transcript #5: ENST00000577200
MT speed 0 s - this script 5.546529 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
LLGL2	polymorphism_automatic	0.127594199431269	simple_aae				R45H	single base exchange	rs1671036		show file
LLGL2	polymorphism_automatic	0.127594199431269	simple_aae				R45H	single base exchange	rs1671036		show file
LLGL2	polymorphism_automatic	0.127594199431269	simple_aae				R45H	single base exchange	rs1671036		show file
LLGL2	polymorphism_automatic	0.127594199431269	simple_aae				R45H	single base exchange	rs1671036		show file
LLGL2	polymorphism_automatic	0.127594199431269	simple_aae				R45H	single base exchange	rs1671036		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.872405800568731 (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)

chr17:73552185G>AN/A show variant in all transcripts IGV

HGNC symbol

LLGL2

Ensembl transcript ID

ENST00000375227

Genbank transcript ID

NM_001015002

UniProt peptide

Q6P1M3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.134G>A
cDNA.258G>A
g.31025G>A

AA changes

R45H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1671036

database	homozygous (A/A)	heterozygous	allele carriers
1000G	509	1031	1540
ExAC	16249	269	16518

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.965	1
	1.17	0.995
(flanking)	-0.024	0.975

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	31016	wt: 0.6035 / mu: 0.6253 (marginal change - not scored)	wt: CAGCGCCCTCGGCTACAGCCCGTCCCTGCGCATCCTGGCCA mu: CAGCGCCCTCGGCTACAGCCCGTCCCTGCACATCCTGGCCA	gccc\|GTCC
Acc marginally increased	31028	wt: 0.2517 / mu: 0.3300 (marginal change - not scored)	wt: CTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCCGTT mu: CTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCCGTT	gcat\|CCTG

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

ENSPTRG00000009647

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000020782

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000023920

Dmelanogaster

all conserved

FBgn0002121

Celegans

not conserved

F56F10.4

Xtropicalis

not conserved

ENSXETG00000012529

protein features

start (aa)	end (aa)	feature	details
36	69	REPEAT	WD 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1071 / 1071

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

357 / 357

position of stopcodon in wt / mu cDNA

1195 / 1195

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

125 / 125

chromosome

strand

last intron/exon boundary

1006

theoretical NMD boundary in CDS

831

length of CDS

1071

coding sequence (CDS) position

134

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

258

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

31025

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

73552185

original gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

original cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

wildtype AA sequence

mutated AA sequence

speed

0.46 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: 0.872405800568731 (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)

chr17:73552185G>AN/A show variant in all transcripts IGV

HGNC symbol

LLGL2

Ensembl transcript ID

ENST00000167462

Genbank transcript ID

NM_004524

UniProt peptide

Q6P1M3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.134G>A
cDNA.264G>A
g.31025G>A

AA changes

R45H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1671036

database	homozygous (A/A)	heterozygous	allele carriers
1000G	509	1031	1540
ExAC	16249	269	16518

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.965	1
	1.17	0.995
(flanking)	-0.024	0.975

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	31016	wt: 0.6035 / mu: 0.6253 (marginal change - not scored)	wt: CAGCGCCCTCGGCTACAGCCCGTCCCTGCGCATCCTGGCCA mu: CAGCGCCCTCGGCTACAGCCCGTCCCTGCACATCCTGGCCA	gccc\|GTCC
Acc marginally increased	31028	wt: 0.2517 / mu: 0.3300 (marginal change - not scored)	wt: CTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCCGTT mu: CTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCCGTT	gcat\|CCTG

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

ENSPTRG00000009647

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000020782

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000023920

Dmelanogaster

all conserved

FBgn0002121

Celegans

not conserved

F56F10.4

Xtropicalis

not conserved

ENSXETG00000012529

protein features

start (aa)	end (aa)	feature	details
36	69	REPEAT	WD 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3048 / 3048

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

1016 / 1016

position of stopcodon in wt / mu cDNA

3178 / 3178

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

131 / 131

chromosome

strand

last intron/exon boundary

3143

theoretical NMD boundary in CDS

2962

length of CDS

3048

coding sequence (CDS) position

134

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

264

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

31025

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

73552185

original gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

original cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

wildtype AA sequence

MRRFLRPGHD PVRERLKRDL FQFNKTVEHG FPHQPSALGY SPSLRILAIG TRSGAIKLYG
APGVEFMGLH QENNAVTQIH LLPGQCQLVT LLDDNSLHLW SLKVKGGASE LQEDESFTLR
GPPGAAPSAT QITVVLPHSS CELLYLGTES GNVFVVQLPA FRALEDRTIS SDAVLQRLPE
EARHRRVFEM VEALQEHPRD PNQILIGYSR GLVVIWDLQG SRVLYHFLSS QQLENIWWQR
DGRLLVSCHS DGSYCQWPVS SEAQQPEPLR SLVPYGPFPC KAITRILWLT TRQGLPFTIF
QGGMPRASYG DRHCISVIHD GQQTAFDFTS RVIGFTVLTE ADPAATFDDP YALVVLAEEE
LVVIDLQTAG WPPVQLPYLA SLHCSAITCS HHVSNIPLKL WERIIAAGSR QNAHFSTMEW
PIDGGTSLTP APPQRDLLLT GHEDGTVRFW DASGVCLRLL YKLSTVRVFL TDTDPNENFS
AQGEDEWPPL RKVGSFDPYS DDPRLGIQKI FLCKYSGYLA VAGTAGQVLV LELNDEAAEQ
AVEQVEADLL QDQEGYRWKG HERLAARSGP VRFEPGFQPF VLVQCQPPAV VTSLALHSEW
RLVAFGTSHG FGLFDHQQRR QVFVKCTLHP SDQLALEGPL SRVKSLKKSL RQSFRRMRRS
RVSSRKRHPA GPPGEAQEGS AKAERPGLQN MELAPVQRKI EARSAEDSFT GFVRTLYFAD
TYLKDSSRHC PSLWAGTNGG TIYAFSLRVP PAERRMDEPV RAEQAKEIQL MHRAPVVGIL
VLDGHSVPLP EPLEVAHDLS KSPDMQGSHQ LLVVSEEQFK VFTLPKVSAK LKLKLTALEG
SRVRRVSVAH FGSRRAEDYG EHHLAVLTNL GDIQVVSLPL LKPQVRYSCI RREDVSGIAS
CVFTKYGQGF YLISPSEFER FSLSTKWLVE PRCLVDSAET KNHRPGNGAG PKKAPSRARN
SGTQSDGEEK QPGLVMERAL LSDERAATGV HIEPPWGAAS AMAEQSEWLS VQAAR*

mutated AA sequence

MRRFLRPGHD PVRERLKRDL FQFNKTVEHG FPHQPSALGY SPSLHILAIG TRSGAIKLYG
APGVEFMGLH QENNAVTQIH LLPGQCQLVT LLDDNSLHLW SLKVKGGASE LQEDESFTLR
GPPGAAPSAT QITVVLPHSS CELLYLGTES GNVFVVQLPA FRALEDRTIS SDAVLQRLPE
EARHRRVFEM VEALQEHPRD PNQILIGYSR GLVVIWDLQG SRVLYHFLSS QQLENIWWQR
DGRLLVSCHS DGSYCQWPVS SEAQQPEPLR SLVPYGPFPC KAITRILWLT TRQGLPFTIF
QGGMPRASYG DRHCISVIHD GQQTAFDFTS RVIGFTVLTE ADPAATFDDP YALVVLAEEE
LVVIDLQTAG WPPVQLPYLA SLHCSAITCS HHVSNIPLKL WERIIAAGSR QNAHFSTMEW
PIDGGTSLTP APPQRDLLLT GHEDGTVRFW DASGVCLRLL YKLSTVRVFL TDTDPNENFS
AQGEDEWPPL RKVGSFDPYS DDPRLGIQKI FLCKYSGYLA VAGTAGQVLV LELNDEAAEQ
AVEQVEADLL QDQEGYRWKG HERLAARSGP VRFEPGFQPF VLVQCQPPAV VTSLALHSEW
RLVAFGTSHG FGLFDHQQRR QVFVKCTLHP SDQLALEGPL SRVKSLKKSL RQSFRRMRRS
RVSSRKRHPA GPPGEAQEGS AKAERPGLQN MELAPVQRKI EARSAEDSFT GFVRTLYFAD
TYLKDSSRHC PSLWAGTNGG TIYAFSLRVP PAERRMDEPV RAEQAKEIQL MHRAPVVGIL
VLDGHSVPLP EPLEVAHDLS KSPDMQGSHQ LLVVSEEQFK VFTLPKVSAK LKLKLTALEG
SRVRRVSVAH FGSRRAEDYG EHHLAVLTNL GDIQVVSLPL LKPQVRYSCI RREDVSGIAS
CVFTKYGQGF YLISPSEFER FSLSTKWLVE PRCLVDSAET KNHRPGNGAG PKKAPSRARN
SGTQSDGEEK QPGLVMERAL LSDERAATGV HIEPPWGAAS AMAEQSEWLS VQAAR*

speed

1.21 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.872405800568731 (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)

chr17:73552185G>AN/A show variant in all transcripts IGV

HGNC symbol

LLGL2

Ensembl transcript ID

ENST00000392550

Genbank transcript ID

NM_001031803

UniProt peptide

Q6P1M3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.134G>A
cDNA.251G>A
g.31025G>A

AA changes

R45H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1671036

database	homozygous (A/A)	heterozygous	allele carriers
1000G	509	1031	1540
ExAC	16249	269	16518

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.965	1
	1.17	0.995
(flanking)	-0.024	0.975

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	31016	wt: 0.6035 / mu: 0.6253 (marginal change - not scored)	wt: CAGCGCCCTCGGCTACAGCCCGTCCCTGCGCATCCTGGCCA mu: CAGCGCCCTCGGCTACAGCCCGTCCCTGCACATCCTGGCCA	gccc\|GTCC
Acc marginally increased	31028	wt: 0.2517 / mu: 0.3300 (marginal change - not scored)	wt: CTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCCGTT mu: CTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCCGTT	gcat\|CCTG

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

ENSPTRG00000009647

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000020782

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000023920

Dmelanogaster

all conserved

FBgn0002121

Celegans

not conserved

F56F10.4

Xtropicalis

not conserved

ENSXETG00000012529

protein features

start (aa)	end (aa)	feature	details
36	69	REPEAT	WD 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3063 / 3063

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

1021 / 1021

position of stopcodon in wt / mu cDNA

3180 / 3180

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

118 / 118

chromosome

strand

last intron/exon boundary

3173

theoretical NMD boundary in CDS

3005

length of CDS

3063

coding sequence (CDS) position

134

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

251

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

31025

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

73552185

original gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

original cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

wildtype AA sequence

mutated AA sequence

speed

1.19 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.872405800568731 (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)

chr17:73552185G>AN/A show variant in all transcripts IGV

HGNC symbol

LLGL2

Ensembl transcript ID

ENST00000578363

Genbank transcript ID

N/A

UniProt peptide

Q6P1M3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.134G>A
cDNA.275G>A
g.31025G>A

AA changes

R45H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1671036

database	homozygous (A/A)	heterozygous	allele carriers
1000G	509	1031	1540
ExAC	16249	269	16518

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.965	1
	1.17	0.995
(flanking)	-0.024	0.975

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	31016	wt: 0.6035 / mu: 0.6253 (marginal change - not scored)	wt: CAGCGCCCTCGGCTACAGCCCGTCCCTGCGCATCCTGGCCA mu: CAGCGCCCTCGGCTACAGCCCGTCCCTGCACATCCTGGCCA	gccc\|GTCC
Acc marginally increased	31028	wt: 0.2517 / mu: 0.3300 (marginal change - not scored)	wt: CTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCCGTT mu: CTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCCGTT	gcat\|CCTG

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

ENSPTRG00000009647

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000020782

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000023920

Dmelanogaster

all conserved

FBgn0002121

Celegans

not conserved

F56F10.4

Xtropicalis

not conserved

ENSXETG00000012529

protein features

start (aa)	end (aa)	feature	details
36	69	REPEAT	WD 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1071 / 1071

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

357 / 357

position of stopcodon in wt / mu cDNA

1212 / 1212

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

142 / 142

chromosome

strand

last intron/exon boundary

1023

theoretical NMD boundary in CDS

831

length of CDS

1071

coding sequence (CDS) position

134

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

275

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

31025

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

73552185

original gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

original cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

wildtype AA sequence

mutated AA sequence

speed

1.15 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.872405800568731 (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)

chr17:73552185G>AN/A show variant in all transcripts IGV

HGNC symbol

LLGL2

Ensembl transcript ID

ENST00000577200

Genbank transcript ID

N/A

UniProt peptide

Q6P1M3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.134G>A
cDNA.238G>A
g.31025G>A

AA changes

R45H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1671036

database	homozygous (A/A)	heterozygous	allele carriers
1000G	509	1031	1540
ExAC	16249	269	16518

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.965	1
	1.17	0.995
(flanking)	-0.024	0.975

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	31016	wt: 0.6035 / mu: 0.6253 (marginal change - not scored)	wt: CAGCGCCCTCGGCTACAGCCCGTCCCTGCGCATCCTGGCCA mu: CAGCGCCCTCGGCTACAGCCCGTCCCTGCACATCCTGGCCA	gccc\|GTCC
Acc marginally increased	31028	wt: 0.2517 / mu: 0.3300 (marginal change - not scored)	wt: CTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCCGTT mu: CTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCCGTT	gcat\|CCTG

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

ENSPTRG00000009647

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000020782

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000023920

Dmelanogaster

all conserved

FBgn0002121

Celegans

not conserved

F56F10.4

Xtropicalis

not conserved

ENSXETG00000012529

protein features

start (aa)	end (aa)	feature	details
36	69	REPEAT	WD 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3060 / 3060

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

1020 / 1020

position of stopcodon in wt / mu cDNA

3164 / 3164

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

105 / 105

chromosome

strand

last intron/exon boundary

3160

theoretical NMD boundary in CDS

3005

length of CDS

3060

coding sequence (CDS) position

134

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

238

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

31025

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

73552185

original gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered gDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

original cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC

altered cDNA sequence snippet

CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC

wildtype AA sequence

mutated AA sequence

speed

0.42 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

Problems