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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000352397
Querying Taster for transcript #2: ENST00000407623
Querying Taster for transcript #3: ENST00000407332
Querying Taster for transcript #4: ENST00000402438
Querying Taster for transcript #5: ENST00000361740
Querying Taster for transcript #6: ENST00000396303
MT speed 0 s - this script 4.230331 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CYB5R3	disease_causing_automatic	0.999999999895274	simple_aae		affected	0	D217G	single base exchange	rs121965018		show file
CYB5R3	disease_causing_automatic	0.999999999895274	simple_aae		affected	0	D217G	single base exchange	rs121965018		show file
CYB5R3	disease_causing_automatic	0.999999999895274	simple_aae		affected	0	D217G	single base exchange	rs121965018		show file
CYB5R3	disease_causing_automatic	0.999999999895274	simple_aae		affected	0	D217G	single base exchange	rs121965018		show file
CYB5R3	disease_causing_automatic	0.999999999976877	simple_aae		affected	0	D240G	single base exchange	rs121965018		show file
CYB5R3	disease_causing_automatic	0.999999999976877	simple_aae		affected	0	D273G	single base exchange	rs121965018		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999895274 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM051906)
known disease mutation: rs252 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:43019809T>CN/A show variant in all transcripts IGV

HGNC symbol

CYB5R3

Ensembl transcript ID

ENST00000407623

Genbank transcript ID

N/A

UniProt peptide

P00387

alteration type

single base exchange

alteration region

CDS

DNA changes

c.650A>G
cDNA.1035A>G
g.25766A>G

AA changes

D217G Score: 94 explain score(s)

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

217

frameshift

known variant

Reference ID: rs121965018

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

known disease mutation: rs252 (pathogenic for Methemoglobinemia, type I) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM051906)

known disease mutation at this position, please check HGMD for details (HGMD ID CM051906)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051906)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.707	1
	4.443	1
(flanking)	5.386	1

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 increased	25765	wt: 0.60 / mu: 0.97	wt: CGCTGGACAGAGCCC mu: CGCTGGGCAGAGCCC	CTGG\|acag
Donor gained	25760	0.55	mu: GTACACGCTGGGCAG	ACAC\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

217

mutated

not conserved

217

Ptroglodytes

all identical

ENSPTRG00000014461

240

Mmulatta

all identical

ENSMMUG00000010198

240

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000018042

217

Ggallus

all identical

ENSGALG00000014122

240

Trubripes

all identical

ENSTRUG00000013823

238

Drerio

all identical

ENSDARG00000005891

237

Dmelanogaster

all identical

FBgn0036211

255

Celegans

all identical

T05H4.5

248

Xtropicalis

all identical

ENSXETG00000016513

242

protein features

start (aa)	end (aa)	feature	details
213	215	HELIX		might get lost (downstream of altered splice site)
219	228	HELIX		might get lost (downstream of altered splice site)
230	232	TURN		might get lost (downstream of altered splice site)
233	234	CONFLICT	FK -> CN (in Ref. 4; CAA09006/CAA09007).	might get lost (downstream of altered splice site)
233	241	STRAND		might get lost (downstream of altered splice site)
247	252	STRAND		might get lost (downstream of altered splice site)
255	261	HELIX		might get lost (downstream of altered splice site)
265	267	HELIX		might get lost (downstream of altered splice site)
270	275	STRAND		might get lost (downstream of altered splice site)
277	282	HELIX		might get lost (downstream of altered splice site)
280	280	CONFLICT	I -> N (in Ref. 3; AAL87744).	might get lost (downstream of altered splice site)
285	291	HELIX		might get lost (downstream of altered splice site)
295	297	HELIX		might get lost (downstream of altered splice site)
298	300	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

837 / 837

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

279 / 279

position of stopcodon in wt / mu cDNA

1222 / 1222

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

386 / 386

chromosome

strand

-1

last intron/exon boundary

1050

theoretical NMD boundary in CDS

614

length of CDS

837

coding sequence (CDS) position

650

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

1035

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

25766

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

43019809

original gDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGGTGAGT

altered gDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGGTGAGT

original cDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGG

altered cDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGCCTGGG

wildtype AA sequence

MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*

mutated AA sequence

MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLGRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*

speed

0.60 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: 0.999999999895274 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM051906)
known disease mutation: rs252 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:43019809T>CN/A show variant in all transcripts IGV

HGNC symbol

CYB5R3

Ensembl transcript ID

ENST00000407332

Genbank transcript ID

N/A

UniProt peptide

P00387

alteration type

single base exchange

alteration region

CDS

DNA changes

c.650A>G
cDNA.742A>G
g.25766A>G

AA changes

D217G Score: 94 explain score(s)

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

217

frameshift

known variant

Reference ID: rs121965018

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.707	1
	4.443	1
(flanking)	5.386	1

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 increased	25765	wt: 0.60 / mu: 0.97	wt: CGCTGGACAGAGCCC mu: CGCTGGGCAGAGCCC	CTGG\|acag
Donor gained	25760	0.55	mu: GTACACGCTGGGCAG	ACAC\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

217

mutated

not conserved

217

Ptroglodytes

all identical

ENSPTRG00000014461

240

Mmulatta

all identical

ENSMMUG00000010198

240

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000018042

217

Ggallus

all identical

ENSGALG00000014122

240

Trubripes

all identical

ENSTRUG00000013823

238

Drerio

all identical

ENSDARG00000005891

237

Dmelanogaster

all identical

FBgn0036211

255

Celegans

all identical

T05H4.5

248

Xtropicalis

all identical

ENSXETG00000016513

242

protein features

start (aa)	end (aa)	feature	details
213	215	HELIX		might get lost (downstream of altered splice site)
219	228	HELIX		might get lost (downstream of altered splice site)
230	232	TURN		might get lost (downstream of altered splice site)
233	234	CONFLICT	FK -> CN (in Ref. 4; CAA09006/CAA09007).	might get lost (downstream of altered splice site)
233	241	STRAND		might get lost (downstream of altered splice site)
247	252	STRAND		might get lost (downstream of altered splice site)
255	261	HELIX		might get lost (downstream of altered splice site)
265	267	HELIX		might get lost (downstream of altered splice site)
270	275	STRAND		might get lost (downstream of altered splice site)
277	282	HELIX		might get lost (downstream of altered splice site)
280	280	CONFLICT	I -> N (in Ref. 3; AAL87744).	might get lost (downstream of altered splice site)
285	291	HELIX		might get lost (downstream of altered splice site)
295	297	HELIX		might get lost (downstream of altered splice site)
298	300	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

837 / 837

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

279 / 279

position of stopcodon in wt / mu cDNA

929 / 929

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

93 / 93

chromosome

strand

-1

last intron/exon boundary

757

theoretical NMD boundary in CDS

614

length of CDS

837

coding sequence (CDS) position

650

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

742

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

25766

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

43019809

original gDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGGTGAGT

altered gDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGGTGAGT

original cDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGG

altered cDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGCCTGGG

wildtype AA sequence

mutated AA sequence

MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLGRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*

speed

0.83 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999895274 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM051906)
known disease mutation: rs252 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:43019809T>CN/A show variant in all transcripts IGV

HGNC symbol

CYB5R3

Ensembl transcript ID

ENST00000402438

Genbank transcript ID

N/A

UniProt peptide

P00387

alteration type

single base exchange

alteration region

CDS

DNA changes

c.650A>G
cDNA.834A>G
g.25766A>G

AA changes

D217G Score: 94 explain score(s)

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

217

frameshift

known variant

Reference ID: rs121965018

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.707	1
	4.443	1
(flanking)	5.386	1

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 increased	25765	wt: 0.60 / mu: 0.97	wt: CGCTGGACAGAGCCC mu: CGCTGGGCAGAGCCC	CTGG\|acag
Donor gained	25760	0.55	mu: GTACACGCTGGGCAG	ACAC\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

217

mutated

not conserved

217

Ptroglodytes

all identical

ENSPTRG00000014461

240

Mmulatta

all identical

ENSMMUG00000010198

240

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000018042

217

Ggallus

all identical

ENSGALG00000014122

240

Trubripes

all identical

ENSTRUG00000013823

238

Drerio

all identical

ENSDARG00000005891

237

Dmelanogaster

all identical

FBgn0036211

255

Celegans

all identical

T05H4.5

248

Xtropicalis

all identical

ENSXETG00000016513

242

protein features

start (aa)	end (aa)	feature	details
213	215	HELIX		might get lost (downstream of altered splice site)
219	228	HELIX		might get lost (downstream of altered splice site)
230	232	TURN		might get lost (downstream of altered splice site)
233	234	CONFLICT	FK -> CN (in Ref. 4; CAA09006/CAA09007).	might get lost (downstream of altered splice site)
233	241	STRAND		might get lost (downstream of altered splice site)
247	252	STRAND		might get lost (downstream of altered splice site)
255	261	HELIX		might get lost (downstream of altered splice site)
265	267	HELIX		might get lost (downstream of altered splice site)
270	275	STRAND		might get lost (downstream of altered splice site)
277	282	HELIX		might get lost (downstream of altered splice site)
280	280	CONFLICT	I -> N (in Ref. 3; AAL87744).	might get lost (downstream of altered splice site)
285	291	HELIX		might get lost (downstream of altered splice site)
295	297	HELIX		might get lost (downstream of altered splice site)
298	300	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

837 / 837

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

279 / 279

position of stopcodon in wt / mu cDNA

1021 / 1021

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

185 / 185

chromosome

strand

-1

last intron/exon boundary

849

theoretical NMD boundary in CDS

614

length of CDS

837

coding sequence (CDS) position

650

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

834

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

25766

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

43019809

original gDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGGTGAGT

altered gDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGGTGAGT

original cDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGG

altered cDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGCCTGGG

wildtype AA sequence

mutated AA sequence

MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLGRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*

speed

0.54 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999895274 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM051906)
known disease mutation: rs252 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:43019809T>CN/A show variant in all transcripts IGV

HGNC symbol

CYB5R3

Ensembl transcript ID

ENST00000396303

Genbank transcript ID

NM_001129819

UniProt peptide

P00387

alteration type

single base exchange

alteration region

CDS

DNA changes

c.650A>G
cDNA.802A>G
g.25766A>G

AA changes

D217G Score: 94 explain score(s)

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

217

frameshift

known variant

Reference ID: rs121965018

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.707	1
	4.443	1
(flanking)	5.386	1

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 increased	25765	wt: 0.60 / mu: 0.97	wt: CGCTGGACAGAGCCC mu: CGCTGGGCAGAGCCC	CTGG\|acag
Donor gained	25760	0.55	mu: GTACACGCTGGGCAG	ACAC\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

217

mutated

not conserved

217

Ptroglodytes

all identical

ENSPTRG00000014461

240

Mmulatta

all identical

ENSMMUG00000010198

240

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000018042

217

Ggallus

all identical

ENSGALG00000014122

240

Trubripes

all identical

ENSTRUG00000013823

238

Drerio

all identical

ENSDARG00000005891

237

Dmelanogaster

all identical

FBgn0036211

255

Celegans

all identical

T05H4.5

248

Xtropicalis

all identical

ENSXETG00000016513

242

protein features

start (aa)	end (aa)	feature	details
213	215	HELIX		might get lost (downstream of altered splice site)
219	228	HELIX		might get lost (downstream of altered splice site)
230	232	TURN		might get lost (downstream of altered splice site)
233	234	CONFLICT	FK -> CN (in Ref. 4; CAA09006/CAA09007).	might get lost (downstream of altered splice site)
233	241	STRAND		might get lost (downstream of altered splice site)
247	252	STRAND		might get lost (downstream of altered splice site)
255	261	HELIX		might get lost (downstream of altered splice site)
265	267	HELIX		might get lost (downstream of altered splice site)
270	275	STRAND		might get lost (downstream of altered splice site)
277	282	HELIX		might get lost (downstream of altered splice site)
280	280	CONFLICT	I -> N (in Ref. 3; AAL87744).	might get lost (downstream of altered splice site)
285	291	HELIX		might get lost (downstream of altered splice site)
295	297	HELIX		might get lost (downstream of altered splice site)
298	300	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

837 / 837

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

279 / 279

position of stopcodon in wt / mu cDNA

989 / 989

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

153 / 153

chromosome

strand

-1

last intron/exon boundary

817

theoretical NMD boundary in CDS

614

length of CDS

837

coding sequence (CDS) position

650

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

802

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

25766

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

43019809

original gDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGGTGAGT

altered gDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGGTGAGT

original cDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGG

altered cDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGCCTGGG

wildtype AA sequence

mutated AA sequence

MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLGRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*

speed

0.77 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999976877 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM051906)
known disease mutation: rs252 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:43019809T>CN/A show variant in all transcripts IGV

HGNC symbol

CYB5R3

Ensembl transcript ID

ENST00000352397

Genbank transcript ID

NM_000398

UniProt peptide

P00387

alteration type

single base exchange

alteration region

CDS

DNA changes

c.719A>G
cDNA.972A>G
g.25766A>G

AA changes

D240G Score: 94 explain score(s)

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

240

frameshift

known variant

Reference ID: rs121965018

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.707	1
	4.443	1
(flanking)	5.386	1

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 increased	25765	wt: 0.60 / mu: 0.97	wt: CGCTGGACAGAGCCC mu: CGCTGGGCAGAGCCC	CTGG\|acag
Donor gained	25760	0.55	mu: GTACACGCTGGGCAG	ACAC\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

240

mutated

not conserved

240

Ptroglodytes

all identical

ENSPTRG00000014461

240

Mmulatta

all identical

ENSMMUG00000010198

240

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000018042

217

Ggallus

all identical

ENSGALG00000014122

240

Trubripes

all identical

ENSTRUG00000013823

238

Drerio

all identical

ENSDARG00000005891

237

Dmelanogaster

all identical

FBgn0036211

255

Celegans

all identical

T05H4.5

248

Xtropicalis

all identical

ENSXETG00000016513

242

protein features

start (aa)	end (aa)	feature	details
233	241	STRAND		lost
247	252	STRAND		might get lost (downstream of altered splice site)
255	261	HELIX		might get lost (downstream of altered splice site)
265	267	HELIX		might get lost (downstream of altered splice site)
270	275	STRAND		might get lost (downstream of altered splice site)
277	282	HELIX		might get lost (downstream of altered splice site)
280	280	CONFLICT	I -> N (in Ref. 3; AAL87744).	might get lost (downstream of altered splice site)
285	291	HELIX		might get lost (downstream of altered splice site)
295	297	HELIX		might get lost (downstream of altered splice site)
298	300	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

906 / 906

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

302 / 302

position of stopcodon in wt / mu cDNA

1159 / 1159

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

254 / 254

chromosome

strand

-1

last intron/exon boundary

987

theoretical NMD boundary in CDS

683

length of CDS

906

coding sequence (CDS) position

719

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

972

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

25766

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

43019809

original gDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGGTGAGT

altered gDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGGTGAGT

original cDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGG

altered cDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGCCTGGG

wildtype AA sequence

MGAQLSTLGH MVLFPVWFLY SLLMKLFQRS TPAITLESPD IKYPLRLIDR EIISHDTRRF
RFALPSPQHI LGLPVGQHIY LSARIDGNLV VRPYTPISSD DDKGFVDLVI KVYFKDTHPK
FPAGGKMSQY LESMQIGDTI EFRGPSGLLV YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG
GTGITPMLQV IRAIMKDPDD HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLD
RAPEAWDYGQ GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV
F*

mutated AA sequence

MGAQLSTLGH MVLFPVWFLY SLLMKLFQRS TPAITLESPD IKYPLRLIDR EIISHDTRRF
RFALPSPQHI LGLPVGQHIY LSARIDGNLV VRPYTPISSD DDKGFVDLVI KVYFKDTHPK
FPAGGKMSQY LESMQIGDTI EFRGPSGLLV YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG
GTGITPMLQV IRAIMKDPDD HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLG
RAPEAWDYGQ GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV
F*

speed

0.56 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999976877 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM051906)
known disease mutation: rs252 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:43019809T>CN/A show variant in all transcripts IGV

HGNC symbol

CYB5R3

Ensembl transcript ID

ENST00000361740

Genbank transcript ID

NM_001171660

UniProt peptide

P00387

alteration type

single base exchange

alteration region

CDS

DNA changes

c.818A>G
cDNA.818A>G
g.25766A>G

AA changes

D273G Score: 94 explain score(s)

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

273

frameshift

known variant

Reference ID: rs121965018

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.707	1
	4.443	1
(flanking)	5.386	1

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 increased	25765	wt: 0.60 / mu: 0.97	wt: CGCTGGACAGAGCCC mu: CGCTGGGCAGAGCCC	CTGG\|acag
Donor gained	25760	0.55	mu: GTACACGCTGGGCAG	ACAC\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

273

mutated

not conserved

273

Ptroglodytes

all identical

ENSPTRG00000014461

240

Mmulatta

all identical

ENSMMUG00000010198

240

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000018042

217

Ggallus

all identical

ENSGALG00000014122

240

Trubripes

all identical

ENSTRUG00000013823

238

Drerio

all identical

ENSDARG00000005891

237

Dmelanogaster

all identical

FBgn0036211

255

Celegans

all identical

T05H4.5

248

Xtropicalis

all identical

ENSXETG00000016513

242

protein features

start (aa)	end (aa)	feature	details
270	275	STRAND		lost
277	282	HELIX		might get lost (downstream of altered splice site)
280	280	CONFLICT	I -> N (in Ref. 3; AAL87744).	might get lost (downstream of altered splice site)
285	291	HELIX		might get lost (downstream of altered splice site)
295	297	HELIX		might get lost (downstream of altered splice site)
298	300	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1005 / 1005

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

335 / 335

position of stopcodon in wt / mu cDNA

1005 / 1005

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

833

theoretical NMD boundary in CDS

782

length of CDS

1005

coding sequence (CDS) position

818

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

818

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

25766

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

43019809

original gDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGGTGAGT

altered gDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGGTGAGT

original cDNA sequence snippet

CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGG

altered cDNA sequence snippet

CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGCCTGGG

wildtype AA sequence

MNRSLLVGCM QSKDIWGREE SICERLKQDG LDVERAESWE LGHMVLFPVW FLYSLLMKLF
QRSTPAITLE SPDIKYPLRL IDREIISHDT RRFRFALPSP QHILGLPVGQ HIYLSARIDG
NLVVRPYTPI SSDDDKGFVD LVIKVYFKDT HPKFPAGGKM SQYLESMQIG DTIEFRGPSG
LLVYQGKGKF AIRPDKKSNP IIRTVKSVGM IAGGTGITPM LQVIRAIMKD PDDHTVCHLL
FANQTEKDIL LRPELEELRN KHSARFKLWY TLDRAPEAWD YGQGFVNEEM IRDHLPPPEE
EPLVLMCGPP PMIQYACLPN LDHVGHPTER CFVF*

mutated AA sequence

MNRSLLVGCM QSKDIWGREE SICERLKQDG LDVERAESWE LGHMVLFPVW FLYSLLMKLF
QRSTPAITLE SPDIKYPLRL IDREIISHDT RRFRFALPSP QHILGLPVGQ HIYLSARIDG
NLVVRPYTPI SSDDDKGFVD LVIKVYFKDT HPKFPAGGKM SQYLESMQIG DTIEFRGPSG
LLVYQGKGKF AIRPDKKSNP IIRTVKSVGM IAGGTGITPM LQVIRAIMKD PDDHTVCHLL
FANQTEKDIL LRPELEELRN KHSARFKLWY TLGRAPEAWD YGQGFVNEEM IRDHLPPPEE
EPLVLMCGPP PMIQYACLPN LDHVGHPTER CFVF*

speed

0.64 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems