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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000359051
Querying Taster for transcript #2: ENST00000336307
Querying Taster for transcript #3: ENST00000415204
Querying Taster for transcript #4: ENST00000513170
Querying Taster for transcript #5: ENST00000450982
Querying Taster for transcript #6: ENST00000354862
Querying Taster for transcript #7: ENST00000417393
Querying Taster for transcript #8: ENST00000443094
Querying Taster for transcript #9: ENST00000443842
MT speed 0 s - this script 5.830606 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
NAA80	polymorphism_automatic	2.84994250421278e-13	simple_aae		affected		R244W	single base exchange	rs2269432		show file
NAA80	polymorphism_automatic	2.84994250421278e-13	simple_aae		affected		R222W	single base exchange	rs2269432		show file
NAA80	polymorphism_automatic	2.84994250421278e-13	simple_aae		affected		R222W	single base exchange	rs2269432		show file
NAA80	polymorphism_automatic	2.84994250421278e-13	simple_aae		affected		R222W	single base exchange	rs2269432		show file
HYAL3	polymorphism_automatic	2.69202760971865e-07	without_aae		affected			single base exchange	rs2269432		show file
HYAL3	polymorphism_automatic	2.69202760971865e-07	without_aae		affected			single base exchange	rs2269432		show file
HYAL3	polymorphism_automatic	2.69202760971865e-07	without_aae		affected			single base exchange	rs2269432		show file
HYAL3	polymorphism_automatic	2.69202760971865e-07	without_aae		affected			single base exchange	rs2269432		show file
HYAL3	polymorphism_automatic	2.69202760971865e-07	without_aae		affected			single base exchange	rs2269432		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999715 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

NAA80

Ensembl transcript ID

ENST00000354862

Genbank transcript ID

NM_012191

UniProt peptide

Q93015

alteration type

single base exchange

alteration region

CDS

DNA changes

c.730A>T
cDNA.932A>T
g.2622A>T

AA changes

R244W Score: 101 explain score(s)

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

244

frameshift

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

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	2614	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc marginally increased	2613	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2615	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc gained	2624	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

399

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

244

mutated

not conserved

244

Ptroglodytes

not conserved

ENSPTRG00000034051

243

Mmulatta

not conserved

ENSMMUG00000020120

222

Fcatus

not conserved

ENSFCAG00000018926

244

Mmusculus

not conserved

ENSMUSG00000079334

250

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068590

171

KFKVTN

Dmelanogaster

no alignment

FBgn0037747

n/a

Celegans

not conserved

C56G2.15

162

SFL

Xtropicalis

not conserved

ENSXETG00000007327

171

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

927 / 927

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

309 / 309

position of stopcodon in wt / mu cDNA

1129 / 1129

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

203 / 203

chromosome

strand

-1

last intron/exon boundary

205

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

927

coding sequence (CDS) position

730

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

932

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

2622

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered cDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

wildtype AA sequence

MQELTLSPGP AKLTPTLDPT HRMELILSTS PAELTLDPAC QPKLPLDSTC QPEMTFNPGP
TELTLDPEHQ PEETPAPSLA ELTLEPVHRR PELLDACADL INDQWPRSRT SRLHSLGQSS
DAFPLCLMLL SPHPTLEAAP VVVGHARLSR VLNQPQSLLV ETVVVARALR GRGFGRRLME
GLEVFARARG FRKLHLTTHD QVHFYTHLGY QLGEPVQGLV FTSRRLPATL LNAFPTAPSP
RPPRKAPNLT AQAAPRGPKG PPLPPPPPLP ECLTISPPVP SGPPSKSLLE TQYQNVRGRP
IFWMEKDI*

mutated AA sequence

MQELTLSPGP AKLTPTLDPT HRMELILSTS PAELTLDPAC QPKLPLDSTC QPEMTFNPGP
TELTLDPEHQ PEETPAPSLA ELTLEPVHRR PELLDACADL INDQWPRSRT SRLHSLGQSS
DAFPLCLMLL SPHPTLEAAP VVVGHARLSR VLNQPQSLLV ETVVVARALR GRGFGRRLME
GLEVFARARG FRKLHLTTHD QVHFYTHLGY QLGEPVQGLV FTSRRLPATL LNAFPTAPSP
RPPWKAPNLT AQAAPRGPKG PPLPPPPPLP ECLTISPPVP SGPPSKSLLE TQYQNVRGRP
IFWMEKDI*

speed

0.82 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: 0.999999999999715 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

NAA80

Ensembl transcript ID

ENST00000417393

Genbank transcript ID

NM_001200018

UniProt peptide

Q93015

alteration type

single base exchange

alteration region

CDS

DNA changes

c.664A>T
cDNA.767A>T
g.2622A>T

AA changes

R222W Score: 101 explain score(s)

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

222

frameshift

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

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	2614	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc marginally increased	2613	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2615	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc gained	2624	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

397

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

222

mutated

not conserved

222

Ptroglodytes

not conserved

ENSPTRG00000034051

243

Mmulatta

not conserved

ENSMMUG00000020120

222

Fcatus

not conserved

ENSFCAG00000018926

244

Mmusculus

not conserved

ENSMUSG00000079334

250

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068590

171

KFKVTN

Dmelanogaster

no alignment

FBgn0037747

n/a

Celegans

not conserved

C56G2.15

162

SFL

Xtropicalis

not conserved

ENSXETG00000007327

171

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

861 / 861

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

287 / 287

position of stopcodon in wt / mu cDNA

964 / 964

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

104 / 104

chromosome

strand

-1

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

861

coding sequence (CDS) position

664

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

767

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

2622

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered cDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

wildtype AA sequence

MELILSTSPA ELTLDPACQP KLPLDSTCQP EMTFNPGPTE LTLDPEHQPE ETPAPSLAEL
TLEPVHRRPE LLDACADLIN DQWPRSRTSR LHSLGQSSDA FPLCLMLLSP HPTLEAAPVV
VGHARLSRVL NQPQSLLVET VVVARALRGR GFGRRLMEGL EVFARARGFR KLHLTTHDQV
HFYTHLGYQL GEPVQGLVFT SRRLPATLLN AFPTAPSPRP PRKAPNLTAQ AAPRGPKGPP
LPPPPPLPEC LTISPPVPSG PPSKSLLETQ YQNVRGRPIF WMEKDI*

mutated AA sequence

MELILSTSPA ELTLDPACQP KLPLDSTCQP EMTFNPGPTE LTLDPEHQPE ETPAPSLAEL
TLEPVHRRPE LLDACADLIN DQWPRSRTSR LHSLGQSSDA FPLCLMLLSP HPTLEAAPVV
VGHARLSRVL NQPQSLLVET VVVARALRGR GFGRRLMEGL EVFARARGFR KLHLTTHDQV
HFYTHLGYQL GEPVQGLVFT SRRLPATLLN AFPTAPSPRP PWKAPNLTAQ AAPRGPKGPP
LPPPPPLPEC LTISPPVPSG PPSKSLLETQ YQNVRGRPIF WMEKDI*

speed

1.05 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999715 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

NAA80

Ensembl transcript ID

ENST00000443094

Genbank transcript ID

NM_001200016

UniProt peptide

Q93015

alteration type

single base exchange

alteration region

CDS

DNA changes

c.664A>T
cDNA.1082A>T
g.2622A>T

AA changes

R222W Score: 101 explain score(s)

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

222

frameshift

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

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	2614	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc marginally increased	2613	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2615	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc gained	2624	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

383

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

222

mutated

not conserved

222

Ptroglodytes

not conserved

ENSPTRG00000034051

243

Mmulatta

not conserved

ENSMMUG00000020120

222

Fcatus

not conserved

ENSFCAG00000018926

244

Mmusculus

not conserved

ENSMUSG00000079334

250

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068590

171

KFKVTN

Dmelanogaster

no alignment

FBgn0037747

n/a

Celegans

not conserved

C56G2.15

162

SFL

Xtropicalis

not conserved

ENSXETG00000007327

171

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

861 / 861

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

287 / 287

position of stopcodon in wt / mu cDNA

1279 / 1279

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

419 / 419

chromosome

strand

-1

last intron/exon boundary

210

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

861

coding sequence (CDS) position

664

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

1082

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

2622

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered cDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

wildtype AA sequence

mutated AA sequence

MELILSTSPA ELTLDPACQP KLPLDSTCQP EMTFNPGPTE LTLDPEHQPE ETPAPSLAEL
TLEPVHRRPE LLDACADLIN DQWPRSRTSR LHSLGQSSDA FPLCLMLLSP HPTLEAAPVV
VGHARLSRVL NQPQSLLVET VVVARALRGR GFGRRLMEGL EVFARARGFR KLHLTTHDQV
HFYTHLGYQL GEPVQGLVFT SRRLPATLLN AFPTAPSPRP PWKAPNLTAQ AAPRGPKGPP
LPPPPPLPEC LTISPPVPSG PPSKSLLETQ YQNVRGRPIF WMEKDI*

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999715 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

NAA80

Ensembl transcript ID

ENST00000443842

Genbank transcript ID

N/A

UniProt peptide

Q93015

alteration type

single base exchange

alteration region

CDS

DNA changes

c.664A>T
cDNA.1472A>T
g.2622A>T

AA changes

R222W Score: 101 explain score(s)

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

222

frameshift

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

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	2614	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc marginally increased	2613	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2615	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc gained	2624	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

349

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

222

mutated

not conserved

222

Ptroglodytes

not conserved

ENSPTRG00000034051

243

Mmulatta

not conserved

ENSMMUG00000020120

222

Fcatus

not conserved

ENSFCAG00000018926

244

Mmusculus

not conserved

ENSMUSG00000079334

250

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068590

171

KFKVTN

Dmelanogaster

no alignment

FBgn0037747

n/a

Celegans

not conserved

C56G2.15

162

SFL

Xtropicalis

not conserved

ENSXETG00000007327

171

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

861 / 861

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

287 / 287

position of stopcodon in wt / mu cDNA

1669 / 1669

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

809 / 809

chromosome

strand

-1

last intron/exon boundary

189

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

861

coding sequence (CDS) position

664

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

1472

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

2622

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered cDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

wildtype AA sequence

mutated AA sequence

MELILSTSPA ELTLDPACQP KLPLDSTCQP EMTFNPGPTE LTLDPEHQPE ETPAPSLAEL
TLEPVHRRPE LLDACADLIN DQWPRSRTSR LHSLGQSSDA FPLCLMLLSP HPTLEAAPVV
VGHARLSRVL NQPQSLLVET VVVARALRGR GFGRRLMEGL EVFARARGFR KLHLTTHDQV
HFYTHLGYQL GEPVQGLVFT SRRLPATLLN AFPTAPSPRP PWKAPNLTAQ AAPRGPKGPP
LPPPPPLPEC LTISPPVPSG PPSKSLLETQ YQNVRGRPIF WMEKDI*

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999730797239 (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)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

HYAL3

Ensembl transcript ID

ENST00000359051

Genbank transcript ID

NM_001200030

UniProt peptide

O43820

alteration type

single base exchange

alteration region

intron

DNA changes

g.2669A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change before start ATG (at aa -5) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	2662	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc marginally increased	2660	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2661	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc gained	2671	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

1181

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	20	SIGNAL	Potential.	might get lost (downstream of altered splice site)
42	42	DISULFID	By similarity.	might get lost (downstream of altered splice site)
54	54	CONFLICT	A -> S (in Ref. 5; AAH05896).	might get lost (downstream of altered splice site)
69	69	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
129	129	ACT_SITE	Proton donor (By similarity).	might get lost (downstream of altered splice site)
205	205	DISULFID	By similarity.	might get lost (downstream of altered splice site)
215	215	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
220	220	DISULFID	By similarity.	might get lost (downstream of altered splice site)
331	331	DISULFID	By similarity.	might get lost (downstream of altered splice site)
352	407	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
356	356	DISULFID	By similarity.	might get lost (downstream of altered splice site)
361	361	DISULFID	By similarity.	might get lost (downstream of altered splice site)
367	367	DISULFID	By similarity.	might get lost (downstream of altered splice site)
395	395	DISULFID	By similarity.	might get lost (downstream of altered splice site)
397	397	DISULFID	By similarity.	might get lost (downstream of altered splice site)
406	406	DISULFID	By similarity.	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

57 / 57

chromosome

strand

-1

last intron/exon boundary

951

theoretical NMD boundary in CDS

844

length of CDS

1164

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)

2669

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTTQLGPALV LGVALCLGCG QPLPQVPERP FSVLWNVPSA HCEARFGVHL PLNALGIIAN
RGQHFHGQNM TIFYKNQLGL YPYFGPRGTA HNGGIPQALP LDRHLALAAY QIHHSLRPGF
AGPAVLDWEE WCPLWAGNWG RRRAYQAASW AWAQQVFPDL DPQEQLYKAY TGFEQAARAL
MEDTLRVAQA LRPHGLWGFY HYPACGNGWH SMASNYTGRC HAATLARNTQ LHWLWAASSA
LFPSIYLPPR LPPAHHQAFV RHRLEEAFRV ALVGHRHPLP VLAYVRLTHR RSGRFLSQEE
CWHLHDYLVD TLGPYVINVT RAAMACSHQR CHGHGRCARR DPGQMEAFLH LWPDGSLGDW
KSFSCHCYWG WAGPTCQEPR PGPKEAV*

mutated AA sequence

N/A

speed

0.61 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999730797239 (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)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

HYAL3

Ensembl transcript ID

ENST00000336307

Genbank transcript ID

NM_001200029

UniProt peptide

O43820

alteration type

single base exchange

alteration region

intron

DNA changes

g.2669A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change before start ATG (at aa -5) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	2662	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc marginally increased	2660	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2661	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc gained	2671	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

1181

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	20	SIGNAL	Potential.	might get lost (downstream of altered splice site)
42	42	DISULFID	By similarity.	might get lost (downstream of altered splice site)
54	54	CONFLICT	A -> S (in Ref. 5; AAH05896).	might get lost (downstream of altered splice site)
69	69	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
129	129	ACT_SITE	Proton donor (By similarity).	might get lost (downstream of altered splice site)
205	205	DISULFID	By similarity.	might get lost (downstream of altered splice site)
215	215	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
220	220	DISULFID	By similarity.	might get lost (downstream of altered splice site)
331	331	DISULFID	By similarity.	might get lost (downstream of altered splice site)
352	407	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
356	356	DISULFID	By similarity.	might get lost (downstream of altered splice site)
361	361	DISULFID	By similarity.	might get lost (downstream of altered splice site)
367	367	DISULFID	By similarity.	might get lost (downstream of altered splice site)
395	395	DISULFID	By similarity.	might get lost (downstream of altered splice site)
397	397	DISULFID	By similarity.	might get lost (downstream of altered splice site)
406	406	DISULFID	By similarity.	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

274 / 274

chromosome

strand

-1

last intron/exon boundary

1258

theoretical NMD boundary in CDS

934

length of CDS

1254

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)

2669

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTTQLGPALV LGVALCLGCG QPLPQVPERP FSVLWNVPSA HCEARFGVHL PLNALGIIAN
RGQHFHGQNM TIFYKNQLGL YPYFGPRGTA HNGGIPQALP LDRHLALAAY QIHHSLRPGF
AGPAVLDWEE WCPLWAGNWG RRRAYQAASW AWAQQVFPDL DPQEQLYKAY TGFEQAARAL
MEDTLRVAQA LRPHGLWGFY HYPACGNGWH SMASNYTGRC HAATLARNTQ LHWLWAASSA
LFPSIYLPPR LPPAHHQAFV RHRLEEAFRV ALVGHRHPLP VLAYVRLTHR RSGRFLSQDD
LVQSIGVSAA LGAAGVVLWG DLSLSSSEEE CWHLHDYLVD TLGPYVINVT RAAMACSHQR
CHGHGRCARR DPGQMEAFLH LWPDGSLGDW KSFSCHCYWG WAGPTCQEPR PGPKEAV*

mutated AA sequence

N/A

speed

0.61 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999730797239 (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)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

HYAL3

Ensembl transcript ID

ENST00000415204

Genbank transcript ID

NM_001200031

UniProt peptide

O43820

alteration type

single base exchange

alteration region

intron

DNA changes

g.2669A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

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	2662	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc marginally increased	2660	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2661	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc gained	2671	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

1947

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	20	SIGNAL	Potential.	might get lost (downstream of altered splice site)
42	42	DISULFID	By similarity.	might get lost (downstream of altered splice site)
54	54	CONFLICT	A -> S (in Ref. 5; AAH05896).	might get lost (downstream of altered splice site)
69	69	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
129	129	ACT_SITE	Proton donor (By similarity).	might get lost (downstream of altered splice site)
205	205	DISULFID	By similarity.	might get lost (downstream of altered splice site)
215	215	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
220	220	DISULFID	By similarity.	might get lost (downstream of altered splice site)
331	331	DISULFID	By similarity.	might get lost (downstream of altered splice site)
352	407	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
356	356	DISULFID	By similarity.	might get lost (downstream of altered splice site)
361	361	DISULFID	By similarity.	might get lost (downstream of altered splice site)
367	367	DISULFID	By similarity.	might get lost (downstream of altered splice site)
395	395	DISULFID	By similarity.	might get lost (downstream of altered splice site)
397	397	DISULFID	By similarity.	might get lost (downstream of altered splice site)
406	406	DISULFID	By similarity.	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

188 / 188

chromosome

strand

-1

last intron/exon boundary

425

theoretical NMD boundary in CDS

187

length of CDS

507

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)

2669

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLPPAHHQAF VRHRLEEAFR VALVGHRHPL PVLAYVRLTH RRSGRFLSQD DLVQSIGVSA
ALGAAGVVLW GDLSLSSSEE ECWHLHDYLV DTLGPYVINV TRAAMACSHQ RCHGHGRCAR
RDPGQMEAFL HLWPDGSLGD WKSFSCHCYW GWAGPTCQEP RPGPKEAV*

mutated AA sequence

N/A

speed

0.61 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999730797239 (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)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

HYAL3

Ensembl transcript ID

ENST00000513170

Genbank transcript ID

NM_001200032

UniProt peptide

O43820

alteration type

single base exchange

alteration region

intron

DNA changes

g.2669A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

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	2662	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc marginally increased	2660	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2661	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc gained	2671	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

1947

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	20	SIGNAL	Potential.	might get lost (downstream of altered splice site)
42	42	DISULFID	By similarity.	might get lost (downstream of altered splice site)
54	54	CONFLICT	A -> S (in Ref. 5; AAH05896).	might get lost (downstream of altered splice site)
69	69	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
129	129	ACT_SITE	Proton donor (By similarity).	might get lost (downstream of altered splice site)
205	205	DISULFID	By similarity.	might get lost (downstream of altered splice site)
215	215	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
220	220	DISULFID	By similarity.	might get lost (downstream of altered splice site)
331	331	DISULFID	By similarity.	might get lost (downstream of altered splice site)
352	407	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
356	356	DISULFID	By similarity.	might get lost (downstream of altered splice site)
361	361	DISULFID	By similarity.	might get lost (downstream of altered splice site)
367	367	DISULFID	By similarity.	might get lost (downstream of altered splice site)
395	395	DISULFID	By similarity.	might get lost (downstream of altered splice site)
397	397	DISULFID	By similarity.	might get lost (downstream of altered splice site)
406	406	DISULFID	By similarity.	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

19 / 19

chromosome

strand

-1

last intron/exon boundary

166

theoretical NMD boundary in CDS

length of CDS

417

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)

2669

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLPPAHHQAF VRHRLEEAFR VALVGHRHPL PVLAYVRLTH RRSGRFLSQE ECWHLHDYLV
DTLGPYVINV TRAAMACSHQ RCHGHGRCAR RDPGQMEAFL HLWPDGSLGD WKSFSCHCYW
GWAGPTCQEP RPGPKEAV*

mutated AA sequence

N/A

speed

0.59 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999730797239 (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)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

HYAL3

Ensembl transcript ID

ENST00000450982

Genbank transcript ID

N/A

UniProt peptide

O43820

alteration type

single base exchange

alteration region

intron

DNA changes

g.2669A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change before start ATG (at aa -5) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	2662	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc marginally increased	2660	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2661	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc gained	2671	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

1181

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	20	SIGNAL	Potential.	might get lost (downstream of altered splice site)
42	42	DISULFID	By similarity.	might get lost (downstream of altered splice site)
54	54	CONFLICT	A -> S (in Ref. 5; AAH05896).	might get lost (downstream of altered splice site)
69	69	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
129	129	ACT_SITE	Proton donor (By similarity).	might get lost (downstream of altered splice site)
205	205	DISULFID	By similarity.	might get lost (downstream of altered splice site)
215	215	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
220	220	DISULFID	By similarity.	might get lost (downstream of altered splice site)
331	331	DISULFID	By similarity.	might get lost (downstream of altered splice site)
352	407	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
356	356	DISULFID	By similarity.	might get lost (downstream of altered splice site)
361	361	DISULFID	By similarity.	might get lost (downstream of altered splice site)
367	367	DISULFID	By similarity.	might get lost (downstream of altered splice site)
395	395	DISULFID	By similarity.	might get lost (downstream of altered splice site)
397	397	DISULFID	By similarity.	might get lost (downstream of altered splice site)
406	406	DISULFID	By similarity.	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

38 / 38

chromosome

strand

-1

last intron/exon boundary

932

theoretical NMD boundary in CDS

844

length of CDS

1164

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)

2669

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.62 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems