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: ENST00000366175
Querying Taster for transcript #2: ENST00000407356
Querying Taster for transcript #3: ENST00000407568
Querying Taster for transcript #4: ENST00000342951
Querying Taster for transcript #5: ENST00000404580
MT speed 0 s - this script 4.686217 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PSG5	polymorphism_automatic	4.0449865679193e-12	simple_aae		affected		R227H	single base exchange	rs1058285		show file
PSG5	polymorphism_automatic	4.0449865679193e-12	simple_aae		affected		R227H	single base exchange	rs1058285		show file
PSG5	polymorphism_automatic	4.0449865679193e-12	simple_aae		affected		R227H	single base exchange	rs1058285		show file
PSG5	polymorphism_automatic	4.0449865679193e-12	simple_aae		affected		R227H	single base exchange	rs1058285		show file
PSG5	polymorphism_automatic	1.19232309025996e-07	without_aae		affected			single base exchange	rs1058285		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995955 (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)

chr19:43680051C>TN/A show variant in all transcripts IGV

HGNC symbol

PSG5

Ensembl transcript ID

ENST00000366175

Genbank transcript ID

N/A

UniProt peptide

Q15238

alteration type

single base exchange

alteration region

CDS

DNA changes

c.680G>A
cDNA.811G>A
g.10638G>A

AA changes

R227H Score: 29 explain score(s)

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

227

frameshift

known variant

Reference ID: rs1058285

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1514	790	2304
ExAC	27652	-22537	5115

regulatory features

H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.845	0.061
	-0.916	0.029
(flanking)	-0.138	0.012

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
Donor marginally increased	10635	wt: 0.8436 / mu: 0.8579 (marginal change - not scored)	wt: TGGCATGCGCAGTGA mu: TGGCATGCACAGTGA	GCAT\|gcgc
Donor increased	10630	wt: 0.71 / mu: 0.88	wt: GATGGTGGCATGCGC mu: GATGGTGGCATGCAC	TGGT\|ggca
Donor marginally increased	10640	wt: 0.9246 / mu: 0.9368 (marginal change - not scored)	wt: TGCGCAGTGACCCAG mu: TGCACAGTGACCCAG	CGCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

227

mutated

not conserved

227

Ptroglodytes

no homologue

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

no homologue

protein features

start (aa)	end (aa)	feature	details
147	234	DOMAIN	Ig-like C2-type 1.	lost
232	232	CONFLICT	T -> S (in Ref. 2; AAA60205 and 3; AAA36514).	might get lost (downstream of altered splice site)
239	317	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
240	240	CONFLICT	D -> Y (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
261	261	DISULFID	Probable.	might get lost (downstream of altered splice site)
288	288	CONFLICT	I -> M (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
301	301	DISULFID	Probable.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1008 / 1008

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

336 / 336

position of stopcodon in wt / mu cDNA

1139 / 1139

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

132 / 132

chromosome

strand

-1

last intron/exon boundary

1180

theoretical NMD boundary in CDS

998

length of CDS

1008

coding sequence (CDS) position

680

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

811

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

10638

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

43680051

original gDNA sequence snippet

GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA

altered gDNA sequence snippet

GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA

original cDNA sequence snippet

GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA

altered cDNA sequence snippet

GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA

wildtype AA sequence

MGPLSAPPCT QHITWKGLLL TASLLNFWNL PITAQVTIEA LPPKVSEGKD VLLLVHNLPQ
NLAGYIWYKG QLMDLYHYIT SYVVDGQINI YGPAYTGRET VYSNASLLIQ NVTREDAGSY
TLHIIKRGDR TRGVTGYFTF NLYLKLPKPY ITINNSKPRE NKDVLAFTCE PKSENYTYIW
WLNGQSLPVS PRVKRPIENR ILILPSVTRN ETGPYECEIR DRDGGMRSDP VTLNVLYGPD
LPSIYPSFTY YRSGENLYLS CFAESNPPAE YFWTINGKFQ QSGQKLSIPQ ITTKHRGLYT
CSVRNSATGK ESSKSMTVEV SAPSGIGRLP LLNPI*

mutated AA sequence

MGPLSAPPCT QHITWKGLLL TASLLNFWNL PITAQVTIEA LPPKVSEGKD VLLLVHNLPQ
NLAGYIWYKG QLMDLYHYIT SYVVDGQINI YGPAYTGRET VYSNASLLIQ NVTREDAGSY
TLHIIKRGDR TRGVTGYFTF NLYLKLPKPY ITINNSKPRE NKDVLAFTCE PKSENYTYIW
WLNGQSLPVS PRVKRPIENR ILILPSVTRN ETGPYECEIR DRDGGMHSDP VTLNVLYGPD
LPSIYPSFTY YRSGENLYLS CFAESNPPAE YFWTINGKFQ QSGQKLSIPQ ITTKHRGLYT
CSVRNSATGK ESSKSMTVEV SAPSGIGRLP LLNPI*

speed

0.77 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: 0.999999999995955 (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)

chr19:43680051C>TN/A show variant in all transcripts IGV

HGNC symbol

PSG5

Ensembl transcript ID

ENST00000407356

Genbank transcript ID

NM_001130014

UniProt peptide

Q15238

alteration type

single base exchange

alteration region

CDS

DNA changes

c.680G>A
cDNA.765G>A
g.10638G>A

AA changes

R227H Score: 29 explain score(s)

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

227

frameshift

known variant

Reference ID: rs1058285

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1514	790	2304
ExAC	27652	-22537	5115

regulatory features

H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.845	0.061
	-0.916	0.029
(flanking)	-0.138	0.012

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
Donor marginally increased	10635	wt: 0.8436 / mu: 0.8579 (marginal change - not scored)	wt: TGGCATGCGCAGTGA mu: TGGCATGCACAGTGA	GCAT\|gcgc
Donor increased	10630	wt: 0.71 / mu: 0.88	wt: GATGGTGGCATGCGC mu: GATGGTGGCATGCAC	TGGT\|ggca
Donor marginally increased	10640	wt: 0.9246 / mu: 0.9368 (marginal change - not scored)	wt: TGCGCAGTGACCCAG mu: TGCACAGTGACCCAG	CGCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

227

mutated

not conserved

227

Ptroglodytes

no homologue

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

no homologue

protein features

start (aa)	end (aa)	feature	details
147	234	DOMAIN	Ig-like C2-type 1.	lost
232	232	CONFLICT	T -> S (in Ref. 2; AAA60205 and 3; AAA36514).	might get lost (downstream of altered splice site)
239	317	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
240	240	CONFLICT	D -> Y (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
261	261	DISULFID	Probable.	might get lost (downstream of altered splice site)
288	288	CONFLICT	I -> M (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
301	301	DISULFID	Probable.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1008 / 1008

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

336 / 336

position of stopcodon in wt / mu cDNA

1093 / 1093

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

86 / 86

chromosome

strand

-1

last intron/exon boundary

1134

theoretical NMD boundary in CDS

998

length of CDS

1008

coding sequence (CDS) position

680

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

765

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

10638

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

43680051

original gDNA sequence snippet

GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA

altered gDNA sequence snippet

GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA

original cDNA sequence snippet

GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA

altered cDNA sequence snippet

GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA

wildtype AA sequence

mutated AA sequence

MGPLSAPPCT QHITWKGLLL TASLLNFWNL PITAQVTIEA LPPKVSEGKD VLLLVHNLPQ
NLAGYIWYKG QLMDLYHYIT SYVVDGQINI YGPAYTGRET VYSNASLLIQ NVTREDAGSY
TLHIIKRGDR TRGVTGYFTF NLYLKLPKPY ITINNSKPRE NKDVLAFTCE PKSENYTYIW
WLNGQSLPVS PRVKRPIENR ILILPSVTRN ETGPYECEIR DRDGGMHSDP VTLNVLYGPD
LPSIYPSFTY YRSGENLYLS CFAESNPPAE YFWTINGKFQ QSGQKLSIPQ ITTKHRGLYT
CSVRNSATGK ESSKSMTVEV SAPSGIGRLP LLNPI*

speed

0.94 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995955 (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)

chr19:43680051C>TN/A show variant in all transcripts IGV

HGNC symbol

PSG5

Ensembl transcript ID

ENST00000404580

Genbank transcript ID

N/A

UniProt peptide

Q15238

alteration type

single base exchange

alteration region

CDS

DNA changes

c.680G>A
cDNA.769G>A
g.10638G>A

AA changes

R227H Score: 29 explain score(s)

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

227

frameshift

known variant

Reference ID: rs1058285

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1514	790	2304
ExAC	27652	-22537	5115

regulatory features

H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.845	0.061
	-0.916	0.029
(flanking)	-0.138	0.012

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
Donor marginally increased	10635	wt: 0.8436 / mu: 0.8579 (marginal change - not scored)	wt: TGGCATGCGCAGTGA mu: TGGCATGCACAGTGA	GCAT\|gcgc
Donor increased	10630	wt: 0.71 / mu: 0.88	wt: GATGGTGGCATGCGC mu: GATGGTGGCATGCAC	TGGT\|ggca
Donor marginally increased	10640	wt: 0.9246 / mu: 0.9368 (marginal change - not scored)	wt: TGCGCAGTGACCCAG mu: TGCACAGTGACCCAG	CGCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

227

mutated

not conserved

227

Ptroglodytes

no homologue

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

no homologue

protein features

start (aa)	end (aa)	feature	details
147	234	DOMAIN	Ig-like C2-type 1.	lost
232	232	CONFLICT	T -> S (in Ref. 2; AAA60205 and 3; AAA36514).	might get lost (downstream of altered splice site)
239	317	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
240	240	CONFLICT	D -> Y (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
261	261	DISULFID	Probable.	might get lost (downstream of altered splice site)
288	288	CONFLICT	I -> M (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
301	301	DISULFID	Probable.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1002 / 1002

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

334 / 334

position of stopcodon in wt / mu cDNA

1091 / 1091

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

799

theoretical NMD boundary in CDS

659

length of CDS

1002

coding sequence (CDS) position

680

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

769

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

10638

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

43680051

original gDNA sequence snippet

GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA

altered gDNA sequence snippet

GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA

original cDNA sequence snippet

GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA

altered cDNA sequence snippet

GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA

wildtype AA sequence

mutated AA sequence

MGPLSAPPCT QHITWKGLLL TASLLNFWNL PITAQVTIEA LPPKVSEGKD VLLLVHNLPQ
NLAGYIWYKG QLMDLYHYIT SYVVDGQINI YGPAYTGRET VYSNASLLIQ NVTREDAGSY
TLHIIKRGDR TRGVTGYFTF NLYLKLPKPY ITINNSKPRE NKDVLAFTCE PKSENYTYIW
WLNGQSLPVS PRVKRPIENR ILILPSVTRN ETGPYECEIR DRDGGMHSDP VTLNVLYGPD
LPSIYPSFTY YRSGENLYLS CFAESNPPAE YFWTINGKFQ QSGQKLSIPQ ITTKHRGLYT
CSVRNSATGK ESSKSMTVEV SGKWIPASLA IGF*

speed

0.79 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995955 (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)

chr19:43680051C>TN/A show variant in all transcripts IGV

HGNC symbol

PSG5

Ensembl transcript ID

ENST00000342951

Genbank transcript ID

NM_002781

UniProt peptide

Q15238

alteration type

single base exchange

alteration region

CDS

DNA changes

c.680G>A
cDNA.797G>A
g.10638G>A

AA changes

R227H Score: 29 explain score(s)

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

227

frameshift

known variant

Reference ID: rs1058285

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1514	790	2304
ExAC	27652	-22537	5115

regulatory features

H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.845	0.061
	-0.916	0.029
(flanking)	-0.138	0.012

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
Donor marginally increased	10635	wt: 0.8436 / mu: 0.8579 (marginal change - not scored)	wt: TGGCATGCGCAGTGA mu: TGGCATGCACAGTGA	GCAT\|gcgc
Donor increased	10630	wt: 0.71 / mu: 0.88	wt: GATGGTGGCATGCGC mu: GATGGTGGCATGCAC	TGGT\|ggca
Donor marginally increased	10640	wt: 0.9246 / mu: 0.9368 (marginal change - not scored)	wt: TGCGCAGTGACCCAG mu: TGCACAGTGACCCAG	CGCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

227

mutated

not conserved

227

Ptroglodytes

no homologue

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

no homologue

protein features

start (aa)	end (aa)	feature	details
147	234	DOMAIN	Ig-like C2-type 1.	lost
232	232	CONFLICT	T -> S (in Ref. 2; AAA60205 and 3; AAA36514).	might get lost (downstream of altered splice site)
239	317	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
240	240	CONFLICT	D -> Y (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
261	261	DISULFID	Probable.	might get lost (downstream of altered splice site)
288	288	CONFLICT	I -> M (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
301	301	DISULFID	Probable.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1008 / 1008

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

336 / 336

position of stopcodon in wt / mu cDNA

1125 / 1125

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

-1

last intron/exon boundary

1166

theoretical NMD boundary in CDS

998

length of CDS

1008

coding sequence (CDS) position

680

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

797

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

10638

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

43680051

original gDNA sequence snippet

GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA

altered gDNA sequence snippet

GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA

original cDNA sequence snippet

GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA

altered cDNA sequence snippet

GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA

wildtype AA sequence

mutated AA sequence

MGPLSAPPCT QHITWKGLLL TASLLNFWNL PITAQVTIEA LPPKVSEGKD VLLLVHNLPQ
NLAGYIWYKG QLMDLYHYIT SYVVDGQINI YGPAYTGRET VYSNASLLIQ NVTREDAGSY
TLHIIKRGDR TRGVTGYFTF NLYLKLPKPY ITINNSKPRE NKDVLAFTCE PKSENYTYIW
WLNGQSLPVS PRVKRPIENR ILILPSVTRN ETGPYECEIR DRDGGMHSDP VTLNVLYGPD
LPSIYPSFTY YRSGENLYLS CFAESNPPAE YFWTINGKFQ QSGQKLSIPQ ITTKHRGLYT
CSVRNSATGK ESSKSMTVEV SAPSGIGRLP LLNPI*

speed

1.02 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999880767691 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr19:43680051C>TN/A show variant in all transcripts IGV

HGNC symbol

PSG5

Ensembl transcript ID

ENST00000407568

Genbank transcript ID

N/A

UniProt peptide

Q15238

alteration type

single base exchange

alteration region

intron

DNA changes

g.10638G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1058285

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1514	790	2304
ExAC	27652	-22537	5115

regulatory features

H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.845	0.061
	-0.916	0.029
(flanking)	-0.138	0.012

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
Donor marginally increased	10635	wt: 0.8436 / mu: 0.8579 (marginal change - not scored)	wt: TGGCATGCGCAGTGA mu: TGGCATGCACAGTGA	GCAT\|gcgc
Donor increased	10630	wt: 0.71 / mu: 0.88	wt: GATGGTGGCATGCGC mu: GATGGTGGCATGCAC	TGGT\|ggca
Donor marginally increased	10640	wt: 0.9246 / mu: 0.9368 (marginal change - not scored)	wt: TGCGCAGTGACCCAG mu: TGCACAGTGACCCAG	CGCA\|gtga

distance from splice site

5761

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
35	144	DOMAIN	Ig-like V-type.	might get lost (downstream of altered splice site)
147	234	DOMAIN	Ig-like C2-type 1.	might get lost (downstream of altered splice site)
169	169	DISULFID	Probable.	might get lost (downstream of altered splice site)
175	175	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
195	195	CONFLICT	R -> Q (in Ref. 1; no nucleotide entry and 5; AAH12607).	might get lost (downstream of altered splice site)
210	210	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
217	217	DISULFID	Probable.	might get lost (downstream of altered splice site)
232	232	CONFLICT	T -> S (in Ref. 2; AAA60205 and 3; AAA36514).	might get lost (downstream of altered splice site)
239	317	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
240	240	CONFLICT	D -> Y (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
261	261	DISULFID	Probable.	might get lost (downstream of altered splice site)
288	288	CONFLICT	I -> M (in Ref. 3; AAA36514).	might get lost (downstream of altered splice site)
301	301	DISULFID	Probable.	might get lost (downstream of altered splice site)

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

90 / 90

chromosome

strand

-1

last intron/exon boundary

604

theoretical NMD boundary in CDS

464

length of CDS

474

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)

10638

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

43680051

original gDNA sequence snippet

GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA

altered gDNA sequence snippet

GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGPLSAPPCT QHITWKGLLL TASLLNFWNL PITAQVTIEA LPPKVSEGKD VLLLVHNLPQ
NLAGYIWYKG QLMDLYHYIT SYVVDGQINI YGPAYTGRET VYSNASLLIQ NVTREDAGSY
TLHIIKRGDR TRGVTGYFTF NLYPPSGIGR LPLLNPI*

mutated AA sequence

N/A

speed

0.80 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