MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000394005
Querying Taster for transcript #2: ENST00000341686
Querying Taster for transcript #3: ENST00000430183
MT speed 0 s - this script 2.549954 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ACSM6	polymorphism_automatic	3.99680288865056e-15	simple_aae				E19G	single base exchange	rs591157		show file
ACSM6	polymorphism_automatic	3.99680288865056e-15	simple_aae				E19G	single base exchange	rs591157		show file
ACSM6	polymorphism_automatic	1.57365335895499e-06	without_aae					single base exchange	rs591157		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999996 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:96954298A>GN/A show variant in all transcripts IGV

HGNC symbol

ACSM6

Ensembl transcript ID

ENST00000394005

Genbank transcript ID

N/A

UniProt peptide

Q6P461

alteration type

single base exchange

alteration region

CDS

DNA changes

c.56A>G
cDNA.65A>G
g.342A>G

AA changes

E19G Score: 98 explain score(s)

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

frameshift

known variant

Reference ID: rs591157

database	homozygous (G/G)	heterozygous	allele carriers
1000G	492	969	1461
ExAC	2989	5390	8379

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.388	0
	0.064	0.001
(flanking)	0.366	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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000002782

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0039156

n/a

Celegans

no alignment

F11A3.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	21	TRANSIT	Mitochondrion (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1443 / 1443

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

481 / 481

position of stopcodon in wt / mu cDNA

1452 / 1452

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

10 / 10

chromosome

strand

last intron/exon boundary

1312

theoretical NMD boundary in CDS

1252

length of CDS

1443

coding sequence (CDS) position

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

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

342

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

96954298

original gDNA sequence snippet

GAGTTTCAGACTGGGATTTGAAGCCTGCTGCTATCCAAACC

altered gDNA sequence snippet

GAGTTTCAGACTGGGATTTGGAGCCTGCTGCTATCCAAACC

original cDNA sequence snippet

GAGTTTCAGACTGGGATTTGAAGCCTGCTGCTATCCAAACC

altered cDNA sequence snippet

GAGTTTCAGACTGGGATTTGGAGCCTGCTGCTATCCAAACC

wildtype AA sequence

MLGRFQPFSL VRSFRLGFEA CCYPNQKCAT QTIRPPDSRC LVQAVSQNFN FAKDVLDQWS
QLEKDGLRGP YPALWKVSAK GEEDKWSFER MTQLSKKAAS ILSDTCALSH GDRLMIILPP
TPEAYWICLA CVRLGITFVP GSPQLTAKKI RYQLRMSKAQ CIVANEAMAP VVNSAVSDCP
TLKTKLLVSD KSYDGWLDFK KLIQVAPPKQ TYMRTKSQDP MAIFFTKGTT GAPKMVEYSQ
YGLGMGFSQA SRRWMDLQPT DVLWSLGDAF GGSLSLSAVL GTWFQGACVF LCHMPTFCPE
TVLNVLSRFP ITTLSANPEM YQELLQHKCF TSYRFKSLKQ CVAAGGPISP GVIEDWKRIT
KLDIYEGYGQ TETGLLCATS KTIKLKPSSL GKPLPPYIVQ IVDENSNLLP PGEEGNIAIR
IKLNQPASLY CPHMVSWEEY ASARGHMLYL TGDRGIMDED GYFWWSGRVD DVANALGQRL
*

mutated AA sequence

MLGRFQPFSL VRSFRLGFGA CCYPNQKCAT QTIRPPDSRC LVQAVSQNFN FAKDVLDQWS
QLEKDGLRGP YPALWKVSAK GEEDKWSFER MTQLSKKAAS ILSDTCALSH GDRLMIILPP
TPEAYWICLA CVRLGITFVP GSPQLTAKKI RYQLRMSKAQ CIVANEAMAP VVNSAVSDCP
TLKTKLLVSD KSYDGWLDFK KLIQVAPPKQ TYMRTKSQDP MAIFFTKGTT GAPKMVEYSQ
YGLGMGFSQA SRRWMDLQPT DVLWSLGDAF GGSLSLSAVL GTWFQGACVF LCHMPTFCPE
TVLNVLSRFP ITTLSANPEM YQELLQHKCF TSYRFKSLKQ CVAAGGPISP GVIEDWKRIT
KLDIYEGYGQ TETGLLCATS KTIKLKPSSL GKPLPPYIVQ IVDENSNLLP PGEEGNIAIR
IKLNQPASLY CPHMVSWEEY ASARGHMLYL TGDRGIMDED GYFWWSGRVD DVANALGQRL
*

speed

0.36 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: 0.999999999999996 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:96954298A>GN/A show variant in all transcripts IGV

HGNC symbol

ACSM6

Ensembl transcript ID

ENST00000341686

Genbank transcript ID

NM_207321

UniProt peptide

Q6P461

alteration type

single base exchange

alteration region

CDS

DNA changes

c.56A>G
cDNA.181A>G
g.342A>G

AA changes

E19G Score: 98 explain score(s)

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

frameshift

known variant

Reference ID: rs591157

database	homozygous (G/G)	heterozygous	allele carriers
1000G	492	969	1461
ExAC	2989	5390	8379

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.388	0
	0.064	0.001
(flanking)	0.366	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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000002782

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0039156

n/a

Celegans

no alignment

F11A3.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	21	TRANSIT	Mitochondrion (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1443 / 1443

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

481 / 481

position of stopcodon in wt / mu cDNA

1568 / 1568

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

126 / 126

chromosome

strand

last intron/exon boundary

1428

theoretical NMD boundary in CDS

1252

length of CDS

1443

coding sequence (CDS) position

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

181

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

342

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

96954298

original gDNA sequence snippet

GAGTTTCAGACTGGGATTTGAAGCCTGCTGCTATCCAAACC

altered gDNA sequence snippet

GAGTTTCAGACTGGGATTTGGAGCCTGCTGCTATCCAAACC

original cDNA sequence snippet

GAGTTTCAGACTGGGATTTGAAGCCTGCTGCTATCCAAACC

altered cDNA sequence snippet

GAGTTTCAGACTGGGATTTGGAGCCTGCTGCTATCCAAACC

wildtype AA sequence

mutated AA sequence

speed

0.31 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999998426346641 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:96954298A>GN/A show variant in all transcripts IGV

HGNC symbol

ACSM6

Ensembl transcript ID

ENST00000430183

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.181A>G
g.342A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs591157

database	homozygous (G/G)	heterozygous	allele carriers
1000G	492	969	1461
ExAC	2989	5390	8379

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.388	0
	0.064	0.001
(flanking)	0.366	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

Kozak consensus sequence altered?

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

591 / 591

chromosome

strand

last intron/exon boundary

1304

theoretical NMD boundary in CDS

663

length of CDS

561

coding sequence (CDS) position

N/A

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

181

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

342

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

96954298

original gDNA sequence snippet

GAGTTTCAGACTGGGATTTGAAGCCTGCTGCTATCCAAACC

altered gDNA sequence snippet

GAGTTTCAGACTGGGATTTGGAGCCTGCTGCTATCCAAACC

original cDNA sequence snippet

GAGTTTCAGACTGGGATTTGAAGCCTGCTGCTATCCAAACC

altered cDNA sequence snippet

GAGTTTCAGACTGGGATTTGGAGCCTGCTGCTATCCAAACC

wildtype AA sequence

MSKAQCIVAN EAMAPVVNSA VSDCPTLKTK LLVSDKSYDG WLDFKKLIQV APPKQTYMRT
KSQDPMAIFF TKGTTGAPKM VEYSQYGLGM GFSQASRRWM DLQPTDVLWS LGDAFGGSLS
LSAVLGTWFQ GACVFLCHMP TFCPETVLNV LSRFPITTLS ANPEMYQELL QHKCFTRVYS
VPLPKQ*

mutated AA sequence

N/A

speed

0.24 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems