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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000534324
Querying Taster for transcript #2: ENST00000287899
Querying Taster for transcript #3: ENST00000497820
Querying Taster for transcript #4: ENST00000419823
Querying Taster for transcript #5: ENST00000542737
Querying Taster for transcript #6: ENST00000537208
Querying Taster for transcript #7: ENST00000401046
MT speed 0 s - this script 2.779359 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CYB5RL	polymorphism_automatic	0.000339966393864022	simple_aae		affected		R47K	single base exchange	rs946448		show file
CYB5RL	polymorphism_automatic	0.00686753392539896	simple_aae		affected		R47K	single base exchange	rs946448		show file
CYB5RL	polymorphism_automatic	0.00686753392539896	simple_aae		affected		R47K	single base exchange	rs946448		show file
CYB5RL	polymorphism_automatic	0.00686753392539896	simple_aae		affected		R47K	single base exchange	rs946448		show file
CYB5RL	polymorphism_automatic	0.00686753392539896	simple_aae		affected		R47K	single base exchange	rs946448		show file
CYB5RL	polymorphism_automatic	0.00686753392539896	simple_aae		affected		R47K	single base exchange	rs946448		show file
CYB5RL	polymorphism_automatic	0.99999560955658	without_aae		affected			single base exchange	rs946448		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999660033606136 (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)

chr1:54661150C>TN/A show variant in all transcripts IGV

HGNC symbol

CYB5RL

Ensembl transcript ID

ENST00000497820

Genbank transcript ID

N/A

UniProt peptide

Q6IPT4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.140G>A
cDNA.275G>A
g.4560G>A

AA changes

R47K Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs946448

database	homozygous (T/T)	heterozygous	allele carriers
1000G	282	1020	1302
ExAC	7715	17337	25052

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.067	0.756
	1.27	0.75
(flanking)	0.751	0.687

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	4555	wt: 0.9810 / mu: 0.9947 (marginal change - not scored)	wt: GATCTGGCAAGGTGG mu: GATCTGGCAAAGTGG	TCTG\|gcaa
Donor marginally increased	4561	wt: 0.3878 / mu: 0.4311 (marginal change - not scored)	wt: GCAAGGTGGGAGGCA mu: GCAAAGTGGGAGGCA	AAGG\|tggg
Donor increased	4562	wt: 0.65 / mu: 0.89	wt: CAAGGTGGGAGGCAG mu: CAAAGTGGGAGGCAG	AGGT\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000000766

Mmulatta

no alignment

ENSMMUG00000015949

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028621

Ggallus

no alignment

ENSGALG00000010758

n/a

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0030995

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
19	55	DOMAIN	Oxidoreductase-like.	lost
75	177	DOMAIN	FAD-binding FR-type.	might get lost (downstream of altered splice site)
157	172	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
182	214	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
267	267	CONFLICT	H -> P (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)
301	301	CONFLICT	C -> W (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

417 / 417

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

139 / 139

position of stopcodon in wt / mu cDNA

552 / 552

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

136 / 136

chromosome

strand

-1

last intron/exon boundary

334

theoretical NMD boundary in CDS

148

length of CDS

417

coding sequence (CDS) position

140

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

275

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

4560

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

54661150

original gDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered gDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

original cDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered cDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

wildtype AA sequence

MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLARWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRYTQV
AGGPKLHSPA LLFASCWP*

mutated AA sequence

MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLAKWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRYTQV
AGGPKLHSPA LLFASCWP*

speed

0.27 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: 0.993132466074601 (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)

chr1:54661150C>TN/A show variant in all transcripts IGV

HGNC symbol

CYB5RL

Ensembl transcript ID

ENST00000534324

Genbank transcript ID

N/A

UniProt peptide

Q6IPT4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.140G>A
cDNA.140G>A
g.4560G>A

AA changes

R47K Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs946448

database	homozygous (T/T)	heterozygous	allele carriers
1000G	282	1020	1302
ExAC	7715	17337	25052

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.067	0.756
	1.27	0.75
(flanking)	0.751	0.687

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	4555	wt: 0.9810 / mu: 0.9947 (marginal change - not scored)	wt: GATCTGGCAAGGTGG mu: GATCTGGCAAAGTGG	TCTG\|gcaa
Donor marginally increased	4561	wt: 0.3878 / mu: 0.4311 (marginal change - not scored)	wt: GCAAGGTGGGAGGCA mu: GCAAAGTGGGAGGCA	AAGG\|tggg
Donor increased	4562	wt: 0.65 / mu: 0.89	wt: CAAGGTGGGAGGCAG mu: CAAAGTGGGAGGCAG	AGGT\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000000766

Mmulatta

no alignment

ENSMMUG00000015949

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028621

Ggallus

no alignment

ENSGALG00000010758

n/a

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030995

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
19	55	DOMAIN	Oxidoreductase-like.	lost
75	177	DOMAIN	FAD-binding FR-type.	might get lost (downstream of altered splice site)
157	172	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
182	214	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
267	267	CONFLICT	H -> P (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)
301	301	CONFLICT	C -> W (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

948 / 948

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

316 / 316

position of stopcodon in wt / mu cDNA

948 / 948

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

745

theoretical NMD boundary in CDS

694

length of CDS

948

coding sequence (CDS) position

140

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

140

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

4560

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

54661150

original gDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered gDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

original cDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered cDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

wildtype AA sequence

MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLARWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD
DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ
YGELLLLAAG TGLAPMVPIL QSITDNENDE TFVTLVGCFK TFESIYLKTF LQEQARFWNV
RTFFVLSQES SSEQLPWSYQ EKTHFGHLGQ DLIKELVSCC RRKPFALVCG SAEFTKDIAR
CLLCAGLTED SYFLF*

mutated AA sequence

MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLAKWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD
DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ
YGELLLLAAG TGLAPMVPIL QSITDNENDE TFVTLVGCFK TFESIYLKTF LQEQARFWNV
RTFFVLSQES SSEQLPWSYQ EKTHFGHLGQ DLIKELVSCC RRKPFALVCG SAEFTKDIAR
CLLCAGLTED SYFLF*

speed

0.16 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993132466074601 (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)

chr1:54661150C>TN/A show variant in all transcripts IGV

HGNC symbol

CYB5RL

Ensembl transcript ID

ENST00000287899

Genbank transcript ID

N/A

UniProt peptide

Q6IPT4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.140G>A
cDNA.205G>A
g.4560G>A

AA changes

R47K Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs946448

database	homozygous (T/T)	heterozygous	allele carriers
1000G	282	1020	1302
ExAC	7715	17337	25052

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.067	0.756
	1.27	0.75
(flanking)	0.751	0.687

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	4555	wt: 0.9810 / mu: 0.9947 (marginal change - not scored)	wt: GATCTGGCAAGGTGG mu: GATCTGGCAAAGTGG	TCTG\|gcaa
Donor marginally increased	4561	wt: 0.3878 / mu: 0.4311 (marginal change - not scored)	wt: GCAAGGTGGGAGGCA mu: GCAAAGTGGGAGGCA	AAGG\|tggg
Donor increased	4562	wt: 0.65 / mu: 0.89	wt: CAAGGTGGGAGGCAG mu: CAAAGTGGGAGGCAG	AGGT\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000000766

Mmulatta

no alignment

ENSMMUG00000015949

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028621

Ggallus

no alignment

ENSGALG00000010758

n/a

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030995

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
19	55	DOMAIN	Oxidoreductase-like.	lost
75	177	DOMAIN	FAD-binding FR-type.	might get lost (downstream of altered splice site)
157	172	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
182	214	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
267	267	CONFLICT	H -> P (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)
301	301	CONFLICT	C -> W (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

809 / 809

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

66 / 66

chromosome

strand

-1

last intron/exon boundary

606

theoretical NMD boundary in CDS

490

length of CDS

744

coding sequence (CDS) position

140

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

205

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

4560

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

54661150

original gDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered gDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

original cDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered cDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

wildtype AA sequence

MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLARWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD
DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ
ESSSEQLPWS YQEKTHFGHL GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT
EDSYFLF*

mutated AA sequence

MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLAKWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD
DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ
ESSSEQLPWS YQEKTHFGHL GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT
EDSYFLF*

speed

0.17 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993132466074601 (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)

chr1:54661150C>TN/A show variant in all transcripts IGV

HGNC symbol

CYB5RL

Ensembl transcript ID

ENST00000419823

Genbank transcript ID

NM_001031672

UniProt peptide

Q6IPT4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.140G>A
cDNA.365G>A
g.4560G>A

AA changes

R47K Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs946448

database	homozygous (T/T)	heterozygous	allele carriers
1000G	282	1020	1302
ExAC	7715	17337	25052

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.067	0.756
	1.27	0.75
(flanking)	0.751	0.687

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	4555	wt: 0.9810 / mu: 0.9947 (marginal change - not scored)	wt: GATCTGGCAAGGTGG mu: GATCTGGCAAAGTGG	TCTG\|gcaa
Donor marginally increased	4561	wt: 0.3878 / mu: 0.4311 (marginal change - not scored)	wt: GCAAGGTGGGAGGCA mu: GCAAAGTGGGAGGCA	AAGG\|tggg
Donor increased	4562	wt: 0.65 / mu: 0.89	wt: CAAGGTGGGAGGCAG mu: CAAAGTGGGAGGCAG	AGGT\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000000766

Mmulatta

no alignment

ENSMMUG00000015949

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028621

Ggallus

no alignment

ENSGALG00000010758

n/a

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030995

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
19	55	DOMAIN	Oxidoreductase-like.	lost
75	177	DOMAIN	FAD-binding FR-type.	might get lost (downstream of altered splice site)
157	172	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
182	214	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
267	267	CONFLICT	H -> P (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)
301	301	CONFLICT	C -> W (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

948 / 948

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

316 / 316

position of stopcodon in wt / mu cDNA

1173 / 1173

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

226 / 226

chromosome

strand

-1

last intron/exon boundary

970

theoretical NMD boundary in CDS

694

length of CDS

948

coding sequence (CDS) position

140

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

365

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

4560

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

54661150

original gDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered gDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

original cDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered cDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

wildtype AA sequence

mutated AA sequence

speed

0.24 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993132466074601 (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)

chr1:54661150C>TN/A show variant in all transcripts IGV

HGNC symbol

CYB5RL

Ensembl transcript ID

ENST00000542737

Genbank transcript ID

N/A

UniProt peptide

Q6IPT4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.140G>A
cDNA.399G>A
g.4560G>A

AA changes

R47K Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs946448

database	homozygous (T/T)	heterozygous	allele carriers
1000G	282	1020	1302
ExAC	7715	17337	25052

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.067	0.756
	1.27	0.75
(flanking)	0.751	0.687

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	4555	wt: 0.9810 / mu: 0.9947 (marginal change - not scored)	wt: GATCTGGCAAGGTGG mu: GATCTGGCAAAGTGG	TCTG\|gcaa
Donor marginally increased	4561	wt: 0.3878 / mu: 0.4311 (marginal change - not scored)	wt: GCAAGGTGGGAGGCA mu: GCAAAGTGGGAGGCA	AAGG\|tggg
Donor increased	4562	wt: 0.65 / mu: 0.89	wt: CAAGGTGGGAGGCAG mu: CAAAGTGGGAGGCAG	AGGT\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000000766

Mmulatta

no alignment

ENSMMUG00000015949

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028621

Ggallus

no alignment

ENSGALG00000010758

n/a

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030995

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
19	55	DOMAIN	Oxidoreductase-like.	lost
75	177	DOMAIN	FAD-binding FR-type.	might get lost (downstream of altered splice site)
157	172	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
182	214	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
267	267	CONFLICT	H -> P (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)
301	301	CONFLICT	C -> W (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

948 / 948

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

316 / 316

position of stopcodon in wt / mu cDNA

1207 / 1207

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

260 / 260

chromosome

strand

-1

last intron/exon boundary

1004

theoretical NMD boundary in CDS

694

length of CDS

948

coding sequence (CDS) position

140

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

399

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

4560

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

54661150

original gDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered gDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

original cDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered cDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

wildtype AA sequence

mutated AA sequence

speed

0.13 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993132466074601 (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)

chr1:54661150C>TN/A show variant in all transcripts IGV

HGNC symbol

CYB5RL

Ensembl transcript ID

ENST00000537208

Genbank transcript ID

N/A

UniProt peptide

Q6IPT4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.140G>A
cDNA.399G>A
g.4560G>A

AA changes

R47K Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs946448

database	homozygous (T/T)	heterozygous	allele carriers
1000G	282	1020	1302
ExAC	7715	17337	25052

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.067	0.756
	1.27	0.75
(flanking)	0.751	0.687

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	4555	wt: 0.9810 / mu: 0.9947 (marginal change - not scored)	wt: GATCTGGCAAGGTGG mu: GATCTGGCAAAGTGG	TCTG\|gcaa
Donor marginally increased	4561	wt: 0.3878 / mu: 0.4311 (marginal change - not scored)	wt: GCAAGGTGGGAGGCA mu: GCAAAGTGGGAGGCA	AAGG\|tggg
Donor increased	4562	wt: 0.65 / mu: 0.89	wt: CAAGGTGGGAGGCAG mu: CAAAGTGGGAGGCAG	AGGT\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000000766

Mmulatta

no alignment

ENSMMUG00000015949

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028621

Ggallus

no alignment

ENSGALG00000010758

n/a

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030995

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
19	55	DOMAIN	Oxidoreductase-like.	lost
75	177	DOMAIN	FAD-binding FR-type.	might get lost (downstream of altered splice site)
157	172	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
182	214	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
267	267	CONFLICT	H -> P (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)
301	301	CONFLICT	C -> W (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

position of stopcodon in wt / mu cDNA

1003 / 1003

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

260 / 260

chromosome

strand

-1

last intron/exon boundary

800

theoretical NMD boundary in CDS

490

length of CDS

744

coding sequence (CDS) position

140

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

399

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

4560

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

54661150

original gDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered gDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

original cDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered cDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

wildtype AA sequence

MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLARWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD
DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ
ESSSEQLPWS YQEKTHFGHL GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT
EDSYFLF*

mutated AA sequence

MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLAKWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD
DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ
ESSSEQLPWS YQEKTHFGHL GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT
EDSYFLF*

speed

0.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 4.39044341992632e-06 (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)

chr1:54661150C>TN/A show variant in all transcripts IGV

HGNC symbol

CYB5RL

Ensembl transcript ID

ENST00000401046

Genbank transcript ID

N/A

UniProt peptide

Q6IPT4

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.117G>A
g.4560G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs946448

database	homozygous (T/T)	heterozygous	allele carriers
1000G	282	1020	1302
ExAC	7715	17337	25052

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.067	0.756
	1.27	0.75
(flanking)	0.751	0.687

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

splice sites

splice site change before start ATG (at aa -85) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	4555	wt: 0.9810 / mu: 0.9947 (marginal change - not scored)	wt: GATCTGGCAAGGTGG mu: GATCTGGCAAAGTGG	TCTG\|gcaa
Donor marginally increased	4561	wt: 0.3878 / mu: 0.4311 (marginal change - not scored)	wt: GCAAGGTGGGAGGCA mu: GCAAAGTGGGAGGCA	AAGG\|tggg
Donor increased	4562	wt: 0.65 / mu: 0.89	wt: CAAGGTGGGAGGCAG mu: CAAAGTGGGAGGCAG	AGGT\|ggga

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
19	55	DOMAIN	Oxidoreductase-like.	might get lost (downstream of altered splice site)
75	177	DOMAIN	FAD-binding FR-type.	might get lost (downstream of altered splice site)
157	172	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
182	214	NP_BIND	FAD (By similarity).	might get lost (downstream of altered splice site)
267	267	CONFLICT	H -> P (in Ref. 3; CD515193).	might get lost (downstream of altered splice site)
301	301	CONFLICT	C -> W (in Ref. 3; CD515193).	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

379 / 379

chromosome

strand

-1

last intron/exon boundary

679

theoretical NMD boundary in CDS

250

length of CDS

504

coding sequence (CDS) position

N/A

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

117

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

4560

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

54661150

original gDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered gDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

original cDNA sequence snippet

CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA

altered cDNA sequence snippet

CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA

wildtype AA sequence

MGLMSRYVES WRVGDTAFWR GPFGDFFYKP NQYGELLLLA AGTGLAPMVP ILQSITDNEN
DETFVTLVGC FKTFESIYLK TFLQEQARFW NVRTFFVLSQ ESSSEQLPWS YQEKTHFGHL
GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT EDSYFLF*

mutated AA sequence

N/A

speed

0.09 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

Problems