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: ENST00000406787
Querying Taster for transcript #2: ENST00000403099
Querying Taster for transcript #3: ENST00000407364
Querying Taster for transcript #4: ENST00000303459
Querying Taster for transcript #5: ENST00000342303
Querying Taster for transcript #6: ENST00000379199
MT speed 0 s - this script 4.503758 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
METTL15	polymorphism_automatic	1.13890996633614e-09	simple_aae		affected		N31K	single base exchange	rs60970073		show file
METTL15	polymorphism_automatic	1.13890996633614e-09	simple_aae		affected		N31K	single base exchange	rs60970073		show file
METTL15	polymorphism_automatic	1.13890996633614e-09	simple_aae		affected		N31K	single base exchange	rs60970073		show file
METTL15	polymorphism_automatic	1.13890996633614e-09	simple_aae		affected		N31K	single base exchange	rs60970073		show file
METTL15	polymorphism_automatic	1.13890996633614e-09	simple_aae		affected		N31K	single base exchange	rs60970073		show file
METTL15	polymorphism_automatic	1.13890996633614e-09	simple_aae		affected		N31K	single base exchange	rs60970073		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999886109 (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)

chr11:28134974C>AN/A show variant in all transcripts IGV

HGNC symbol

METTL15

Ensembl transcript ID

ENST00000406787

Genbank transcript ID

N/A

UniProt peptide

A6NJ78

alteration type

single base exchange

alteration region

CDS

DNA changes

c.93C>A
cDNA.551C>A
g.5180C>A

AA changes

N31K Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs60970073

database	homozygous (A/A)	heterozygous	allele carriers
1000G	982	1061	2043
ExAC	14252	4263	18515

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.717	0.773
	-1.13	0.01
(flanking)	1.563	0.013

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	5182	wt: 0.2678 / mu: 0.3173 (marginal change - not scored)	wt: AAACAGAATACATAC mu: AAAAAGAATACATAC	ACAG\|aata
Donor gained	5176	0.91	mu: CTGGCCAAAAAGAAT	GGCC\|aaaa

distance from splice site

110

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000003461

Mmulatta

no alignment

ENSMMUG00000013616

n/a

Fcatus

no alignment

ENSFCAG00000018942

n/a

Mmusculus

all conserved

ENSMUSG00000057234

Ggallus

no alignment

ENSGALG00000012153

n/a

Trubripes

no alignment

ENSTRUG00000017270

n/a

Drerio

no alignment

ENSDARG00000089236

n/a

Dmelanogaster

no alignment

FBgn0037822

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004281

n/a

protein features

start (aa)	end (aa)	feature	details
100	102	REGION	S-adenosyl-L-methionine binding (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
146	146	BINDING	S-adenosyl-L-methionine; via amide nitrogen (By similarity).	might get lost (downstream of altered splice site)
169	169	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
176	176	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
191	191	CONFLICT	P -> S (in Ref. 4; AAH30997).	might get lost (downstream of altered splice site)
194	194	CONFLICT	M -> V (in Ref. 1; BAC03631).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

840 / 840

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

280 / 280

position of stopcodon in wt / mu cDNA

1298 / 1298

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

459 / 459

chromosome

strand

last intron/exon boundary

1193

theoretical NMD boundary in CDS

684

length of CDS

840

coding sequence (CDS) position

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

551

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

5180

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

28134974

original gDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered gDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

original cDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered cDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

wildtype AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP NRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ IFLDMTFGSG GHTKAILQKE SDIVLYALDR
DPTAYALAEH LSELYPKQIR AMLGQFSQAE ALLMKAGVQP GTFDGVLMDL GCSSMQLDTP
ERGFSLRKDG PLDMRMDGGR STGTCIYPKN IRGGEACQEN RFSNCSGTQH LPHHQNPAAC
QHRCRSISSL CYLYTERLTT AIYPYCHQDF PGSSHICEQ*

mutated AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP KRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ IFLDMTFGSG GHTKAILQKE SDIVLYALDR
DPTAYALAEH LSELYPKQIR AMLGQFSQAE ALLMKAGVQP GTFDGVLMDL GCSSMQLDTP
ERGFSLRKDG PLDMRMDGGR STGTCIYPKN IRGGEACQEN RFSNCSGTQH LPHHQNPAAC
QHRCRSISSL CYLYTERLTT AIYPYCHQDF PGSSHICEQ*

speed

0.62 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: 0.99999999886109 (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)

chr11:28134974C>AN/A show variant in all transcripts IGV

HGNC symbol

METTL15

Ensembl transcript ID

ENST00000403099

Genbank transcript ID

N/A

UniProt peptide

A6NJ78

alteration type

single base exchange

alteration region

CDS

DNA changes

c.93C>A
cDNA.479C>A
g.5180C>A

AA changes

N31K Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs60970073

database	homozygous (A/A)	heterozygous	allele carriers
1000G	982	1061	2043
ExAC	14252	4263	18515

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.717	0.773
	-1.13	0.01
(flanking)	1.563	0.013

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	5182	wt: 0.2678 / mu: 0.3173 (marginal change - not scored)	wt: AAACAGAATACATAC mu: AAAAAGAATACATAC	ACAG\|aata
Donor gained	5176	0.91	mu: CTGGCCAAAAAGAAT	GGCC\|aaaa

distance from splice site

110

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000003461

Mmulatta

no alignment

ENSMMUG00000013616

n/a

Fcatus

no alignment

ENSFCAG00000018942

n/a

Mmusculus

all conserved

ENSMUSG00000057234

Ggallus

no alignment

ENSGALG00000012153

n/a

Trubripes

no alignment

ENSTRUG00000017270

n/a

Drerio

no alignment

ENSDARG00000089236

n/a

Dmelanogaster

no alignment

FBgn0037822

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004281

n/a

protein features

start (aa)	end (aa)	feature	details
100	102	REGION	S-adenosyl-L-methionine binding (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
146	146	BINDING	S-adenosyl-L-methionine; via amide nitrogen (By similarity).	might get lost (downstream of altered splice site)
169	169	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
176	176	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
191	191	CONFLICT	P -> S (in Ref. 4; AAH30997).	might get lost (downstream of altered splice site)
194	194	CONFLICT	M -> V (in Ref. 1; BAC03631).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

282 / 282

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

94 / 94

position of stopcodon in wt / mu cDNA

668 / 668

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

387 / 387

chromosome

strand

last intron/exon boundary

718

theoretical NMD boundary in CDS

281

length of CDS

282

coding sequence (CDS) position

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

479

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

5180

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

28134974

original gDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered gDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

original cDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered cDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

wildtype AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP NRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ QKK*

mutated AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP KRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ QKK*

speed

0.65 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999886109 (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)

chr11:28134974C>AN/A show variant in all transcripts IGV

HGNC symbol

METTL15

Ensembl transcript ID

ENST00000303459

Genbank transcript ID

N/A

UniProt peptide

A6NJ78

alteration type

single base exchange

alteration region

CDS

DNA changes

c.93C>A
cDNA.200C>A
g.5180C>A

AA changes

N31K Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs60970073

database	homozygous (A/A)	heterozygous	allele carriers
1000G	982	1061	2043
ExAC	14252	4263	18515

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.717	0.773
	-1.13	0.01
(flanking)	1.563	0.013

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	5182	wt: 0.2678 / mu: 0.3173 (marginal change - not scored)	wt: AAACAGAATACATAC mu: AAAAAGAATACATAC	ACAG\|aata
Donor gained	5176	0.91	mu: CTGGCCAAAAAGAAT	GGCC\|aaaa

distance from splice site

110

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000003461

Mmulatta

no alignment

ENSMMUG00000013616

n/a

Fcatus

no alignment

ENSFCAG00000018942

n/a

Mmusculus

all conserved

ENSMUSG00000057234

Ggallus

no alignment

ENSGALG00000012153

n/a

Trubripes

no alignment

ENSTRUG00000017270

n/a

Drerio

no alignment

ENSDARG00000089236

n/a

Dmelanogaster

no alignment

FBgn0037822

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004281

n/a

protein features

start (aa)	end (aa)	feature	details
100	102	REGION	S-adenosyl-L-methionine binding (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
146	146	BINDING	S-adenosyl-L-methionine; via amide nitrogen (By similarity).	might get lost (downstream of altered splice site)
169	169	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
176	176	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
191	191	CONFLICT	P -> S (in Ref. 4; AAH30997).	might get lost (downstream of altered splice site)
194	194	CONFLICT	M -> V (in Ref. 1; BAC03631).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

822 / 822

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

274 / 274

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

108 / 108

chromosome

strand

last intron/exon boundary

957

theoretical NMD boundary in CDS

799

length of CDS

822

coding sequence (CDS) position

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

200

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

5180

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

28134974

original gDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered gDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

original cDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered cDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

wildtype AA sequence

mutated AA sequence

speed

0.63 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999886109 (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)

chr11:28134974C>AN/A show variant in all transcripts IGV

HGNC symbol

METTL15

Ensembl transcript ID

ENST00000407364

Genbank transcript ID

NM_001113528

UniProt peptide

A6NJ78

alteration type

single base exchange

alteration region

CDS

DNA changes

c.93C>A
cDNA.445C>A
g.5180C>A

AA changes

N31K Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs60970073

database	homozygous (A/A)	heterozygous	allele carriers
1000G	982	1061	2043
ExAC	14252	4263	18515

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.717	0.773
	-1.13	0.01
(flanking)	1.563	0.013

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	5182	wt: 0.2678 / mu: 0.3173 (marginal change - not scored)	wt: AAACAGAATACATAC mu: AAAAAGAATACATAC	ACAG\|aata
Donor gained	5176	0.91	mu: CTGGCCAAAAAGAAT	GGCC\|aaaa

distance from splice site

110

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000003461

Mmulatta

no alignment

ENSMMUG00000013616

n/a

Fcatus

no alignment

ENSFCAG00000018942

n/a

Mmusculus

all conserved

ENSMUSG00000057234

Ggallus

no alignment

ENSGALG00000012153

n/a

Trubripes

no alignment

ENSTRUG00000017270

n/a

Drerio

no alignment

ENSDARG00000089236

n/a

Dmelanogaster

no alignment

FBgn0037822

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004281

n/a

protein features

start (aa)	end (aa)	feature	details
100	102	REGION	S-adenosyl-L-methionine binding (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
146	146	BINDING	S-adenosyl-L-methionine; via amide nitrogen (By similarity).	might get lost (downstream of altered splice site)
169	169	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
176	176	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
191	191	CONFLICT	P -> S (in Ref. 4; AAH30997).	might get lost (downstream of altered splice site)
194	194	CONFLICT	M -> V (in Ref. 1; BAC03631).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1224 / 1224

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

408 / 408

position of stopcodon in wt / mu cDNA

1576 / 1576

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

353 / 353

chromosome

strand

last intron/exon boundary

1131

theoretical NMD boundary in CDS

728

length of CDS

1224

coding sequence (CDS) position

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

445

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

5180

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

28134974

original gDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered gDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

original cDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered cDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

wildtype AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP NRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ IFLDMTFGSG GHTKAILQKE SDIVLYALDR
DPTAYALAEH LSELYPKQIR AMLGQFSQAE ALLMKAGVQP GTFDGVLMDL GCSSMQLDTP
ERGFSLRKDG PLDMRMDGGR YPDMPTAADV VNALDQQALA SILRTYGEEK HAKKIASAIV
QARSIYPITR TQQLASIVAG AFPPSAIYTR KDLLQRSTHI ATKTFQALRI FVNNELNELY
TGLKTAQKFL RPGGRLVALS FHSLEDRIVK RFLLGISMTE RFNLSVRQQV MKTSQLGSDH
ENTEEVSMRR APLMWELIHK KVLSPQDQDV QDNPRGRSAK LRAAIKL*

mutated AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP KRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ IFLDMTFGSG GHTKAILQKE SDIVLYALDR
DPTAYALAEH LSELYPKQIR AMLGQFSQAE ALLMKAGVQP GTFDGVLMDL GCSSMQLDTP
ERGFSLRKDG PLDMRMDGGR YPDMPTAADV VNALDQQALA SILRTYGEEK HAKKIASAIV
QARSIYPITR TQQLASIVAG AFPPSAIYTR KDLLQRSTHI ATKTFQALRI FVNNELNELY
TGLKTAQKFL RPGGRLVALS FHSLEDRIVK RFLLGISMTE RFNLSVRQQV MKTSQLGSDH
ENTEEVSMRR APLMWELIHK KVLSPQDQDV QDNPRGRSAK LRAAIKL*

speed

0.68 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999886109 (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)

chr11:28134974C>AN/A show variant in all transcripts IGV

HGNC symbol

METTL15

Ensembl transcript ID

ENST00000379199

Genbank transcript ID

N/A

UniProt peptide

A6NJ78

alteration type

single base exchange

alteration region

CDS

DNA changes

c.93C>A
cDNA.221C>A
g.5180C>A

AA changes

N31K Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs60970073

database	homozygous (A/A)	heterozygous	allele carriers
1000G	982	1061	2043
ExAC	14252	4263	18515

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.717	0.773
	-1.13	0.01
(flanking)	1.563	0.013

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	5182	wt: 0.2678 / mu: 0.3173 (marginal change - not scored)	wt: AAACAGAATACATAC mu: AAAAAGAATACATAC	ACAG\|aata
Donor gained	5176	0.91	mu: CTGGCCAAAAAGAAT	GGCC\|aaaa

distance from splice site

110

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000003461

Mmulatta

no alignment

ENSMMUG00000013616

n/a

Fcatus

no alignment

ENSFCAG00000018942

n/a

Mmusculus

all conserved

ENSMUSG00000057234

Ggallus

no alignment

ENSGALG00000012153

n/a

Trubripes

no alignment

ENSTRUG00000017270

n/a

Drerio

no alignment

ENSDARG00000089236

n/a

Dmelanogaster

no alignment

FBgn0037822

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004281

n/a

protein features

start (aa)	end (aa)	feature	details
100	102	REGION	S-adenosyl-L-methionine binding (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
146	146	BINDING	S-adenosyl-L-methionine; via amide nitrogen (By similarity).	might get lost (downstream of altered splice site)
169	169	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
176	176	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
191	191	CONFLICT	P -> S (in Ref. 4; AAH30997).	might get lost (downstream of altered splice site)
194	194	CONFLICT	M -> V (in Ref. 1; BAC03631).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

300 / 300

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

100 / 100

position of stopcodon in wt / mu cDNA

428 / 428

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

129 / 129

chromosome

strand

last intron/exon boundary

399

theoretical NMD boundary in CDS

220

length of CDS

300

coding sequence (CDS) position

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

221

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

5180

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

28134974

original gDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered gDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

original cDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered cDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

wildtype AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP NRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ SLGVRSVGI*

mutated AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP KRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ SLGVRSVGI*

speed

0.64 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999886109 (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)

chr11:28134974C>AN/A show variant in all transcripts IGV

HGNC symbol

METTL15

Ensembl transcript ID

ENST00000342303

Genbank transcript ID

NM_152636

UniProt peptide

A6NJ78

alteration type

single base exchange

alteration region

CDS

DNA changes

c.93C>A
cDNA.548C>A
g.5180C>A

AA changes

N31K Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs60970073

database	homozygous (A/A)	heterozygous	allele carriers
1000G	982	1061	2043
ExAC	14252	4263	18515

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.717	0.773
	-1.13	0.01
(flanking)	1.563	0.013

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	5182	wt: 0.2678 / mu: 0.3173 (marginal change - not scored)	wt: AAACAGAATACATAC mu: AAAAAGAATACATAC	ACAG\|aata
Donor gained	5176	0.91	mu: CTGGCCAAAAAGAAT	GGCC\|aaaa

distance from splice site

110

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000003461

Mmulatta

no alignment

ENSMMUG00000013616

n/a

Fcatus

no alignment

ENSFCAG00000018942

n/a

Mmusculus

all conserved

ENSMUSG00000057234

Ggallus

no alignment

ENSGALG00000012153

n/a

Trubripes

no alignment

ENSTRUG00000017270

n/a

Drerio

no alignment

ENSDARG00000089236

n/a

Dmelanogaster

no alignment

FBgn0037822

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004281

n/a

protein features

start (aa)	end (aa)	feature	details
100	102	REGION	S-adenosyl-L-methionine binding (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
146	146	BINDING	S-adenosyl-L-methionine; via amide nitrogen (By similarity).	might get lost (downstream of altered splice site)
169	169	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
176	176	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
191	191	CONFLICT	P -> S (in Ref. 4; AAH30997).	might get lost (downstream of altered splice site)
194	194	CONFLICT	M -> V (in Ref. 1; BAC03631).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

822 / 822

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

274 / 274

position of stopcodon in wt / mu cDNA

1277 / 1277

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

456 / 456

chromosome

strand

last intron/exon boundary

1305

theoretical NMD boundary in CDS

799

length of CDS

822

coding sequence (CDS) position

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

548

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

5180

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

28134974

original gDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered gDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

original cDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered cDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

wildtype AA sequence

mutated AA sequence

speed

0.56 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

Problems