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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000555835
Querying Taster for transcript #2: ENST00000397995
Querying Taster for transcript #3: ENST00000555597
Querying Taster for transcript #4: ENST00000336811
Querying Taster for transcript #5: ENST00000397990
Querying Taster for transcript #6: ENST00000398001
Querying Taster for transcript #7: ENST00000304704
Querying Taster for transcript #8: ENST00000397999
MT speed 0 s - this script 3.541332 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ANG	disease_causing_automatic	7.2522788046701e-11	simple_aae			0	K41E	single base exchange	rs121909537		show file
ANG	disease_causing_automatic	7.2522788046701e-11	simple_aae			0	K41E	single base exchange	rs121909537		show file
RNASE4	disease_causing_automatic	1.23530858007402e-06	without_aae			0		single base exchange	rs121909537		show file
RNASE4	disease_causing_automatic	1.23530858007402e-06	without_aae			0		single base exchange	rs121909537		show file
RNASE4	disease_causing_automatic	1.23530858007402e-06	without_aae			0		single base exchange	rs121909537		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 7.2522788046701e-11 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060830)
known disease mutation: rs18075 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:21161844A>GN/A show variant in all transcripts IGV

HGNC symbol

ANG

Ensembl transcript ID

ENST00000336811

Genbank transcript ID

NM_001145

UniProt peptide

P03950

alteration type

single base exchange

alteration region

CDS

DNA changes

c.121A>G
cDNA.721A>G
g.9509A>G

AA changes

K41E Score: 56 explain score(s)

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

frameshift

known variant

Reference ID: rs121909537
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs18075 (pathogenic for Amyotrophic lateral sclerosis type 9) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM060830)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060830)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060830)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.43	0.012
	0.428	0.007
(flanking)	-0.071	0.001

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

139

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000034128

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000072115

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

444 / 444

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

148 / 148

position of stopcodon in wt / mu cDNA

1044 / 1044

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

601 / 601

chromosome

strand

last intron/exon boundary

583

theoretical NMD boundary in CDS

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

length of CDS

444

coding sequence (CDS) position

121

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

721

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

9509

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

21161844

original gDNA sequence snippet

TGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGAC

altered gDNA sequence snippet

TGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGAC

original cDNA sequence snippet

TGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGAC

altered cDNA sequence snippet

TGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGAC

wildtype AA sequence

MVMGLGVLLL VFVLGLGLTP PTLAQDNSRY THFLTQHYDA KPQGRDDRYC ESIMRRRGLT
SPCKDINTFI HGNKRSIKAI CENKNGNPHR ENLRISKSSF QVTTCKLHGG SPWPPCQYRA
TAGFRNVVVA CENGLPVHLD QSIFRRP*

mutated AA sequence

MVMGLGVLLL VFVLGLGLTP PTLAQDNSRY THFLTQHYDA EPQGRDDRYC ESIMRRRGLT
SPCKDINTFI HGNKRSIKAI CENKNGNPHR ENLRISKSSF QVTTCKLHGG SPWPPCQYRA
TAGFRNVVVA CENGLPVHLD QSIFRRP*

speed

0.09 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

disease causing

Model: simple_aae, prob: 7.2522788046701e-11 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060830)
known disease mutation: rs18075 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:21161844A>GN/A show variant in all transcripts IGV

HGNC symbol

ANG

Ensembl transcript ID

ENST00000397990

Genbank transcript ID

NM_001097577

UniProt peptide

P03950

alteration type

single base exchange

alteration region

CDS

DNA changes

c.121A>G
cDNA.241A>G
g.9509A>G

AA changes

K41E Score: 56 explain score(s)

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

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.43	0.012
	0.428	0.007
(flanking)	-0.071	0.001

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

139

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000034128

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000072115

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

444 / 444

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

148 / 148

position of stopcodon in wt / mu cDNA

564 / 564

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

121 / 121

chromosome

strand

last intron/exon boundary

103

theoretical NMD boundary in CDS

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

length of CDS

444

coding sequence (CDS) position

121

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

241

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

9509

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

21161844

original gDNA sequence snippet

TGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGAC

altered gDNA sequence snippet

TGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGAC

original cDNA sequence snippet

TGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGAC

altered cDNA sequence snippet

TGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGAC

wildtype AA sequence

MVMGLGVLLL VFVLGLGLTP PTLAQDNSRY THFLTQHYDA KPQGRDDRYC ESIMRRRGLT
SPCKDINTFI HGNKRSIKAI CENKNGNPHR ENLRISKSSF QVTTCKLHGG SPWPPCQYRA
TAGFRNVVVA CENGLPVHLD QSIFRRP*

mutated AA sequence

MVMGLGVLLL VFVLGLGLTP PTLAQDNSRY THFLTQHYDA EPQGRDDRYC ESIMRRRGLT
SPCKDINTFI HGNKRSIKAI CENKNGNPHR ENLRISKSSF QVTTCKLHGG SPWPPCQYRA
TAGFRNVVVA CENGLPVHLD QSIFRRP*

speed

0.87 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1.23530858007402e-06 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM060830)
known disease mutation: rs18075 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:21161844A>GN/A show variant in all transcripts IGV

HGNC symbol

RNASE4

Ensembl transcript ID

ENST00000555835

Genbank transcript ID

NM_002937

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9586A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.43	0.012
	0.428	0.007
(flanking)	-0.071	0.001

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

5670

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

677 / 677

chromosome

strand

last intron/exon boundary

660

theoretical NMD boundary in CDS

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

length of CDS

444

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)

9586

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

21161844

original gDNA sequence snippet

TGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGAC

altered gDNA sequence snippet

TGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MALQRTHSLL LLLLLTLLGL GLVQPSYGQD GMYQRFLRQH VHPEETGGSD RYCNLMMQRR
KMTLYHCKRF NTFIHEDIWN IRSICSTTNI QCKNGKMNCH EGVVKVTDCR DTGSSRAPNC
RYRAIASTRR VVIACEGNPQ VPVHFDG*

mutated AA sequence

N/A

speed

0.08 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1.23530858007402e-06 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM060830)
known disease mutation: rs18075 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:21161844A>GN/A show variant in all transcripts IGV

HGNC symbol

RNASE4

Ensembl transcript ID

ENST00000397995

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9586A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.43	0.012
	0.428	0.007
(flanking)	-0.071	0.001

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

5670

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

132 / 132

chromosome

strand

last intron/exon boundary

115

theoretical NMD boundary in CDS

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

length of CDS

444

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)

9586

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

21161844

original gDNA sequence snippet

TGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGAC

altered gDNA sequence snippet

TGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MALQRTHSLL LLLLLTLLGL GLVQPSYGQD GMYQRFLRQH VHPEETGGSD RYCNLMMQRR
KMTLYHCKRF NTFIHEDIWN IRSICSTTNI QCKNGKMNCH EGVVKVTDCR DTGSSRAPNC
RYRAIASTRR VVIACEGNPQ VPVHFDG*

mutated AA sequence

N/A

speed

0.78 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1.23530858007402e-06 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM060830)
known disease mutation: rs18075 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:21161844A>GN/A show variant in all transcripts IGV

HGNC symbol

RNASE4

Ensembl transcript ID

ENST00000555597

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9586A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.43	0.012
	0.428	0.007
(flanking)	-0.071	0.001

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

4811

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

111 / 111

chromosome

strand

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

444

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)

9586

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

21161844

original gDNA sequence snippet

TGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGAC

altered gDNA sequence snippet

TGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MALQRTHSLL LLLLLTLLGL GLVQPSYGQD GMYQRFLRQH VHPEETGGSD RYCNLMMQRR
KMTLYHCKRF NTFIHEDIWN IRSICSTTNI QCKNGKMNCH EGVVKVTDCR DTGSSRAPNC
RYRAIASTRR VVIACEGNPQ VPVHFDG*

mutated AA sequence

N/A

speed

0.66 s

Problems

data problem

No NCBI gene ID found for this transcript

back to results table

data problem

No NCBI gene ID found for this transcript

back to results table

data problem

No NCBI gene ID found for this transcript

back to results table