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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000292246
Querying Taster for transcript #2: ENST00000350459
Querying Taster for transcript #3: ENST00000396091
Querying Taster for transcript #4: ENST00000414522
Querying Taster for transcript #5: ENST00000451430
MT speed 0 s - this script 3.961746 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ANO10	polymorphism_automatic	0.000429229460163993	simple_aae		affected		R272Q	single base exchange	rs3772165		show file
ANO10	polymorphism_automatic	0.000429229460163993	simple_aae		affected		R396Q	single base exchange	rs3772165		show file
ANO10	polymorphism_automatic	0.000429229460163993	simple_aae		affected		R462Q	single base exchange	rs3772165		show file
ANO10	polymorphism_automatic	0.000429229460163993	simple_aae		affected		R462Q	single base exchange	rs3772165		show file
ANO10	polymorphism_automatic	0.000429229460163993	simple_aae		affected		R351Q	single base exchange	rs3772165		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999570770539836 (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)

chr3:43602803C>TN/A show variant in all transcripts IGV

HGNC symbol

ANO10

Ensembl transcript ID

ENST00000350459

Genbank transcript ID

NM_001204834

UniProt peptide

Q9NW15

alteration type

single base exchange

alteration region

CDS

DNA changes

c.815G>A
cDNA.883G>A
g.130284G>A

AA changes

R272Q Score: 43 explain score(s)

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

272

frameshift

known variant

Reference ID: rs3772165

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1186	949	2135
ExAC	26421	-20075	6346

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.353	0.968
	-0.292	0.015
(flanking)	0.889	0.011

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	130287	wt: 0.65 / mu: 0.78	wt: GCGGGTGAAGAGGAA mu: GCAGGTGAAGAGGAA	GGGT\|gaag
Donor marginally increased	130285	wt: 0.9948 / mu: 0.9964 (marginal change - not scored)	wt: GTGCGGGTGAAGAGG mu: GTGCAGGTGAAGAGG	GCGG\|gtga
Donor gained	130284	0.31	mu: TGTGCAGGTGAAGAG	TGCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

272

mutated

all conserved

272

Ptroglodytes

all identical

ENSPTRG00000014811

462

Mmulatta

all identical

ENSMMUG00000001029

437

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000037949

462

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000013338

270

TLD

Drerio

all identical

ENSDARG00000057736

462

Dmelanogaster

not conserved

FBgn0000152

454

LAV

VAE

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
262	316	TOPO_DOM	Cytoplasmic (Potential).	lost
317	337	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
338	352	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
353	373	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
374	400	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
401	421	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
422	500	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
501	521	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
522	553	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
554	574	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
575	590	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
591	611	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
612	660	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1413 / 1413

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

471 / 471

position of stopcodon in wt / mu cDNA

1481 / 1481

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

69 / 69

chromosome

strand

-1

last intron/exon boundary

1413

theoretical NMD boundary in CDS

1294

length of CDS

1413

coding sequence (CDS) position

815

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

883

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

130284

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

43602803

original gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

original cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

wildtype AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE
QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT
MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK
KLEDTWYTRF ALKYQPIENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA FVLKDMKLLR
QSLATLLITS QILNQIMESF LPYWLQRKHG VRVKRKVQAL KADIDATLYE QVILEKEMGT
YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV FKRPFSEPSA
NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEH ALLALKFILA
FAIPDKPRHI QMKLARLEFE SLEALKQQQM KLVTENLKEE PMESGKEKAT *

mutated AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE
QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT
MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK
KLEDTWYTRF ALKYQPIENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA FVLKDMKLLR
QSLATLLITS QILNQIMESF LPYWLQRKHG VQVKRKVQAL KADIDATLYE QVILEKEMGT
YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV FKRPFSEPSA
NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEH ALLALKFILA
FAIPDKPRHI QMKLARLEFE SLEALKQQQM KLVTENLKEE PMESGKEKAT *

speed

0.45 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: 0.999570770539836 (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)

chr3:43602803C>TN/A show variant in all transcripts IGV

HGNC symbol

ANO10

Ensembl transcript ID

ENST00000396091

Genbank transcript ID

NM_001204832

UniProt peptide

Q9NW15

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1187G>A
cDNA.1274G>A
g.130284G>A

AA changes

R396Q Score: 43 explain score(s)

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

396

frameshift

known variant

Reference ID: rs3772165

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1186	949	2135
ExAC	26421	-20075	6346

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.353	0.968
	-0.292	0.015
(flanking)	0.889	0.011

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	130287	wt: 0.65 / mu: 0.78	wt: GCGGGTGAAGAGGAA mu: GCAGGTGAAGAGGAA	GGGT\|gaag
Donor marginally increased	130285	wt: 0.9948 / mu: 0.9964 (marginal change - not scored)	wt: GTGCGGGTGAAGAGG mu: GTGCAGGTGAAGAGG	GCGG\|gtga
Donor gained	130284	0.31	mu: TGTGCAGGTGAAGAG	TGCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

396

mutated

all conserved

396

Ptroglodytes

all identical

ENSPTRG00000014811

462

Mmulatta

all identical

ENSMMUG00000001029

437

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000037949

462

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000013338

270

TLD

Drerio

all identical

ENSDARG00000057736

462

Dmelanogaster

not conserved

FBgn0000152

456

VAE

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
374	400	TOPO_DOM	Cytoplasmic (Potential).	lost
401	421	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
422	500	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
501	521	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
522	553	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
554	574	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
575	590	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
591	611	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
612	660	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1785 / 1785

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

595 / 595

position of stopcodon in wt / mu cDNA

1872 / 1872

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

88 / 88

chromosome

strand

-1

last intron/exon boundary

1804

theoretical NMD boundary in CDS

1666

length of CDS

1785

coding sequence (CDS) position

1187

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

1274

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

130284

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

43602803

original gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

original cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

wildtype AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGDNND DFLTMAECQF
IIKHELENLR AKDEKMIPGY PQAKLYPGKS LLRRLLTSGI VIQVFPLHDS EALKKLEDTW
YTRFALKYQP IDSIRGYFGE TIALYFGFLE YFTFALIPMA VIGLPYYLFV WEDYDKYVIF
ASFNLIWSTV ILELWKRGCA NMTYRWGTLL MKRKFEEPRP GFHGVLGINS ITGKEEPLYP
SYKRQLRIYL VSLPFVCLCL YFSLYVMMIY FDMEVWALGL HENSGSEWTS VLLYVPSIIY
AIVIEIMNRL YRYAAEFLTS WENHRLESAY QNHLILKVLV FNFLNCFASL FYIAFVLKDM
KLLRQSLATL LITSQILNQI MESFLPYWLQ RKHGVRVKRK VQALKADIDA TLYEQVILEK
EMGTYLGTFD DYLELFLQFG YVSLFSCVYP LAAAFAVLNN FTEVNSDALK MCRVFKRPFS
EPSANIGVWQ LAFETMSVIS VVTNCALIGM SPQVNAVFPE SKADLILIVV AVEHALLALK
FILAFAIPDK PRHIQMKLAR LEFESLEALK QQQMKLVTEN LKEEPMESGK EKAT*

mutated AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGDNND DFLTMAECQF
IIKHELENLR AKDEKMIPGY PQAKLYPGKS LLRRLLTSGI VIQVFPLHDS EALKKLEDTW
YTRFALKYQP IDSIRGYFGE TIALYFGFLE YFTFALIPMA VIGLPYYLFV WEDYDKYVIF
ASFNLIWSTV ILELWKRGCA NMTYRWGTLL MKRKFEEPRP GFHGVLGINS ITGKEEPLYP
SYKRQLRIYL VSLPFVCLCL YFSLYVMMIY FDMEVWALGL HENSGSEWTS VLLYVPSIIY
AIVIEIMNRL YRYAAEFLTS WENHRLESAY QNHLILKVLV FNFLNCFASL FYIAFVLKDM
KLLRQSLATL LITSQILNQI MESFLPYWLQ RKHGVQVKRK VQALKADIDA TLYEQVILEK
EMGTYLGTFD DYLELFLQFG YVSLFSCVYP LAAAFAVLNN FTEVNSDALK MCRVFKRPFS
EPSANIGVWQ LAFETMSVIS VVTNCALIGM SPQVNAVFPE SKADLILIVV AVEHALLALK
FILAFAIPDK PRHIQMKLAR LEFESLEALK QQQMKLVTEN LKEEPMESGK EKAT*

speed

0.44 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999570770539836 (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)

chr3:43602803C>TN/A show variant in all transcripts IGV

HGNC symbol

ANO10

Ensembl transcript ID

ENST00000292246

Genbank transcript ID

NM_018075

UniProt peptide

Q9NW15

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1385G>A
cDNA.1556G>A
g.130284G>A

AA changes

R462Q Score: 43 explain score(s)

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

462

frameshift

known variant

Reference ID: rs3772165

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1186	949	2135
ExAC	26421	-20075	6346

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.353	0.968
	-0.292	0.015
(flanking)	0.889	0.011

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	130287	wt: 0.65 / mu: 0.78	wt: GCGGGTGAAGAGGAA mu: GCAGGTGAAGAGGAA	GGGT\|gaag
Donor marginally increased	130285	wt: 0.9948 / mu: 0.9964 (marginal change - not scored)	wt: GTGCGGGTGAAGAGG mu: GTGCAGGTGAAGAGG	GCGG\|gtga
Donor gained	130284	0.31	mu: TGTGCAGGTGAAGAG	TGCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

462

mutated

all conserved

462

Ptroglodytes

all identical

ENSPTRG00000014811

462

Mmulatta

all identical

ENSMMUG00000001029

437

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000037949

462

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000013338

270

TLD

Drerio

all identical

ENSDARG00000057736

462

Dmelanogaster

not conserved

FBgn0000152

454

LAV

VAE

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
422	500	TOPO_DOM	Extracellular (Potential).	lost
501	521	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
522	553	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
554	574	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
575	590	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
591	611	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
612	660	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1983 / 1983

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

661 / 661

position of stopcodon in wt / mu cDNA

2154 / 2154

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

172 / 172

chromosome

strand

-1

last intron/exon boundary

2086

theoretical NMD boundary in CDS

1864

length of CDS

1983

coding sequence (CDS) position

1385

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

1556

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

130284

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

43602803

original gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

original cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

wildtype AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE
QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT
MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK
KLEDTWYTRF ALKYQPIDSI RGYFGETIAL YFGFLEYFTF ALIPMAVIGL PYYLFVWEDY
DKYVIFASFN LIWSTVILEL WKRGCANMTY RWGTLLMKRK FEEPRPGFHG VLGINSITGK
EEPLYPSYKR QLRIYLVSLP FVCLCLYFSL YVMMIYFDME VWALGLHENS GSEWTSVLLY
VPSIIYAIVI EIMNRLYRYA AEFLTSWENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA
FVLKDMKLLR QSLATLLITS QILNQIMESF LPYWLQRKHG VRVKRKVQAL KADIDATLYE
QVILEKEMGT YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV
FKRPFSEPSA NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEH
ALLALKFILA FAIPDKPRHI QMKLARLEFE SLEALKQQQM KLVTENLKEE PMESGKEKAT
*

mutated AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE
QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT
MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK
KLEDTWYTRF ALKYQPIDSI RGYFGETIAL YFGFLEYFTF ALIPMAVIGL PYYLFVWEDY
DKYVIFASFN LIWSTVILEL WKRGCANMTY RWGTLLMKRK FEEPRPGFHG VLGINSITGK
EEPLYPSYKR QLRIYLVSLP FVCLCLYFSL YVMMIYFDME VWALGLHENS GSEWTSVLLY
VPSIIYAIVI EIMNRLYRYA AEFLTSWENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA
FVLKDMKLLR QSLATLLITS QILNQIMESF LPYWLQRKHG VQVKRKVQAL KADIDATLYE
QVILEKEMGT YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV
FKRPFSEPSA NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEH
ALLALKFILA FAIPDKPRHI QMKLARLEFE SLEALKQQQM KLVTENLKEE PMESGKEKAT
*

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999570770539836 (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)

chr3:43602803C>TN/A show variant in all transcripts IGV

HGNC symbol

ANO10

Ensembl transcript ID

ENST00000414522

Genbank transcript ID

NM_001204831

UniProt peptide

Q9NW15

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1385G>A
cDNA.1499G>A
g.130284G>A

AA changes

R462Q Score: 43 explain score(s)

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

462

frameshift

known variant

Reference ID: rs3772165

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1186	949	2135
ExAC	26421	-20075	6346

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.353	0.968
	-0.292	0.015
(flanking)	0.889	0.011

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	130287	wt: 0.65 / mu: 0.78	wt: GCGGGTGAAGAGGAA mu: GCAGGTGAAGAGGAA	GGGT\|gaag
Donor marginally increased	130285	wt: 0.9948 / mu: 0.9964 (marginal change - not scored)	wt: GTGCGGGTGAAGAGG mu: GTGCAGGTGAAGAGG	GCGG\|gtga
Donor gained	130284	0.31	mu: TGTGCAGGTGAAGAG	TGCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

462

mutated

all conserved

462

Ptroglodytes

all identical

ENSPTRG00000014811

462

Mmulatta

all identical

ENSMMUG00000001029

437

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000037949

462

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000013338

270

TLD

Drerio

all identical

ENSDARG00000057736

462

Dmelanogaster

not conserved

FBgn0000152

454

LAV

VAE

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
422	500	TOPO_DOM	Extracellular (Potential).	lost
501	521	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
522	553	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
554	574	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
575	590	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
591	611	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
612	660	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1884 / 1884

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

628 / 628

position of stopcodon in wt / mu cDNA

1998 / 1998

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

115 / 115

chromosome

strand

-1

last intron/exon boundary

2032

theoretical NMD boundary in CDS

1867

length of CDS

1884

coding sequence (CDS) position

1385

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

1499

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

130284

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

43602803

original gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

original cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

wildtype AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE
QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT
MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK
KLEDTWYTRF ALKYQPIDSI RGYFGETIAL YFGFLEYFTF ALIPMAVIGL PYYLFVWEDY
DKYVIFASFN LIWSTVILEL WKRGCANMTY RWGTLLMKRK FEEPRPGFHG VLGINSITGK
EEPLYPSYKR QLRIYLVSLP FVCLCLYFSL YVMMIYFDME VWALGLHENS GSEWTSVLLY
VPSIIYAIVI EIMNRLYRYA AEFLTSWENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA
FVLKDMKLLR QSLATLLITS QILNQIMESF LPYWLQRKHG VRVKRKVQAL KADIDATLYE
QVILEKEMGT YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV
FKRPFSEPSA NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEA
ASCKLVSLPR YSWSTNSVPG TVIGPGV*

mutated AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE
QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT
MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK
KLEDTWYTRF ALKYQPIDSI RGYFGETIAL YFGFLEYFTF ALIPMAVIGL PYYLFVWEDY
DKYVIFASFN LIWSTVILEL WKRGCANMTY RWGTLLMKRK FEEPRPGFHG VLGINSITGK
EEPLYPSYKR QLRIYLVSLP FVCLCLYFSL YVMMIYFDME VWALGLHENS GSEWTSVLLY
VPSIIYAIVI EIMNRLYRYA AEFLTSWENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA
FVLKDMKLLR QSLATLLITS QILNQIMESF LPYWLQRKHG VQVKRKVQAL KADIDATLYE
QVILEKEMGT YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV
FKRPFSEPSA NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEA
ASCKLVSLPR YSWSTNSVPG TVIGPGV*

speed

0.77 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999570770539836 (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)

chr3:43602803C>TN/A show variant in all transcripts IGV

HGNC symbol

ANO10

Ensembl transcript ID

ENST00000451430

Genbank transcript ID

NM_001204833

UniProt peptide

Q9NW15

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1052G>A
cDNA.1158G>A
g.130284G>A

AA changes

R351Q Score: 43 explain score(s)

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

351

frameshift

known variant

Reference ID: rs3772165

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1186	949	2135
ExAC	26421	-20075	6346

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.353	0.968
	-0.292	0.015
(flanking)	0.889	0.011

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	130287	wt: 0.65 / mu: 0.78	wt: GCGGGTGAAGAGGAA mu: GCAGGTGAAGAGGAA	GGGT\|gaag
Donor marginally increased	130285	wt: 0.9948 / mu: 0.9964 (marginal change - not scored)	wt: GTGCGGGTGAAGAGG mu: GTGCAGGTGAAGAGG	GCGG\|gtga
Donor gained	130284	0.31	mu: TGTGCAGGTGAAGAG	TGCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

351

mutated

all conserved

351

Ptroglodytes

all identical

ENSPTRG00000014811

462

Mmulatta

all identical

ENSMMUG00000001029

437

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000037949

462

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000013338

270

TLD

Drerio

all identical

ENSDARG00000057736

462

Dmelanogaster

not conserved

FBgn0000152

454

LAV

VAE

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
338	352	TOPO_DOM	Extracellular (Potential).	lost
353	373	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
374	400	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
401	421	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
422	500	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
501	521	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
522	553	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
554	574	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
575	590	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
591	611	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
612	660	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1650 / 1650

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

550 / 550

position of stopcodon in wt / mu cDNA

1756 / 1756

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

107 / 107

chromosome

strand

-1

last intron/exon boundary

1688

theoretical NMD boundary in CDS

1531

length of CDS

1650

coding sequence (CDS) position

1052

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

1158

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

130284

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

43602803

original gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered gDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

original cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG

altered cDNA sequence snippet

CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG

wildtype AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGVRRL LTSGIVIQVF
PLHDSEALKK LEDTWYTRFA LKYQPIDSIR GYFGETIALY FGFLEYFTFA LIPMAVIGLP
YYLFVWEDYD KYVIFASFNL IWSTVILELW KRGCANMTYR WGTLLMKRKF EEPRPGFHGV
LGINSITGKE EPLYPSYKRQ LRIYLVSLPF VCLCLYFSLY VMMIYFDMEV WALGLHENSG
SEWTSVLLYV PSIIYAIVIE IMNRLYRYAA EFLTSWENHR LESAYQNHLI LKVLVFNFLN
CFASLFYIAF VLKDMKLLRQ SLATLLITSQ ILNQIMESFL PYWLQRKHGV RVKRKVQALK
ADIDATLYEQ VILEKEMGTY LGTFDDYLEL FLQFGYVSLF SCVYPLAAAF AVLNNFTEVN
SDALKMCRVF KRPFSEPSAN IGVWQLAFET MSVISVVTNC ALIGMSPQVN AVFPESKADL
ILIVVAVEHA LLALKFILAF AIPDKPRHIQ MKLARLEFES LEALKQQQMK LVTENLKEEP
MESGKEKAT*

mutated AA sequence

MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGVRRL LTSGIVIQVF
PLHDSEALKK LEDTWYTRFA LKYQPIDSIR GYFGETIALY FGFLEYFTFA LIPMAVIGLP
YYLFVWEDYD KYVIFASFNL IWSTVILELW KRGCANMTYR WGTLLMKRKF EEPRPGFHGV
LGINSITGKE EPLYPSYKRQ LRIYLVSLPF VCLCLYFSLY VMMIYFDMEV WALGLHENSG
SEWTSVLLYV PSIIYAIVIE IMNRLYRYAA EFLTSWENHR LESAYQNHLI LKVLVFNFLN
CFASLFYIAF VLKDMKLLRQ SLATLLITSQ ILNQIMESFL PYWLQRKHGV QVKRKVQALK
ADIDATLYEQ VILEKEMGTY LGTFDDYLEL FLQFGYVSLF SCVYPLAAAF AVLNNFTEVN
SDALKMCRVF KRPFSEPSAN IGVWQLAFET MSVISVVTNC ALIGMSPQVN AVFPESKADL
ILIVVAVEHA LLALKFILAF AIPDKPRHIQ MKLARLEFES LEALKQQQMK LVTENLKEEP
MESGKEKAT*

speed

0.30 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

Problems