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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000369140
Querying Taster for transcript #2: ENST00000439741
Querying Taster for transcript #3: ENST00000361405
Querying Taster for transcript #4: ENST00000406732
MT speed 0 s - this script 4.830486 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MTMR11	polymorphism_automatic	0.0730167245155779	simple_aae		affected		M87V	single base exchange	rs11205303		show file
MTMR11	polymorphism_automatic	0.0730167245155779	simple_aae		affected		M159V	single base exchange	rs11205303		show file
MTMR11	polymorphism_automatic	0.0730167245155779	simple_aae		affected		M159V	single base exchange	rs11205303		show file
MTMR11	polymorphism_automatic	0.0730167245155779	simple_aae		affected		M131V	single base exchange	rs11205303		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.926983275484422 (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)

chr1:149906413T>CN/A show variant in all transcripts IGV

HGNC symbol

MTMR11

Ensembl transcript ID

ENST00000369140

Genbank transcript ID

NM_181873

UniProt peptide

A4FU01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.259A>G
cDNA.445A>G
g.2379A>G

AA changes

M87V Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs11205303

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	787	966
ExAC	7459	17849	25308

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.7	1
	0.526	1
(flanking)	1.343	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	2371	wt: 0.27 / mu: 0.36	wt: TGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCC mu: TGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCC	tgca\|GGTG
Acc marginally increased	2372	wt: 0.9736 / mu: 0.9776 (marginal change - not scored)	wt: GGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCCA mu: GGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCA	gcag\|GTGA
Acc marginally increased	2370	wt: 0.8364 / mu: 0.8916 (marginal change - not scored)	wt: ATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTC mu: ATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTC	ctgc\|AGGT
Acc marginally increased	2369	wt: 0.2126 / mu: 0.2449 (marginal change - not scored)	wt: GATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGT mu: GATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGT	tctg\|CAGG

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

ENSPTRG00000001244

159

Mmulatta

all identical

ENSMMUG00000007246

Fcatus

all identical

ENSFCAG00000010108

Mmusculus

all identical

ENSMUSG00000045934

164

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000069755

161

Dmelanogaster

not conserved

FBgn0030582

238

QDSKMF

RFAYPMRHDL

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
86	86	CONFLICT	W -> R (in Ref. 2; BAG60917).	might get lost (downstream of altered splice site)
165	165	CONFLICT	R -> G (in Ref. 2; BAG60917).	might get lost (downstream of altered splice site)
196	639	DOMAIN	Myotubularin phosphatase.	might get lost (downstream of altered splice site)
263	263	CONFLICT	H -> R (in Ref. 2; BAG53406).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1923 / 1923

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

641 / 641

position of stopcodon in wt / mu cDNA

2109 / 2109

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

187 / 187

chromosome

strand

-1

last intron/exon boundary

2075

theoretical NMD boundary in CDS

1838

length of CDS

1923

coding sequence (CDS) position

259

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

445

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

2379

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

149906413

original gDNA sequence snippet

CCTTTCCTCTGCAGGTGACCATGGCCATTGTCCAAGCCAGA

altered gDNA sequence snippet

CCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCAAGCCAGA

original cDNA sequence snippet

CTCAGGCTTTTCAGGTGACCATGGCCATTGTCCAAGCCAGA

altered cDNA sequence snippet

CTCAGGCTTTTCAGGTGACCGTGGCCATTGTCCAAGCCAGA

wildtype AA sequence

MPPRVTFQPC GWQWNQDTPL NSEYDFALVN IGRLEAVSGL SRVQLLRPGS LHKFIPEEIL
IHGRDFRLLR VGFEAGGLEP QAFQVTMAIV QARAQSNQAQ QYSGITLSKA GQGSGSRKPP
IPLMETAEDW ETERKKQAAR GWRVSTVNER FDVATSLPRY FWVPNRILDS EVRRAFGHFH
QGRGPRLSWH HPGGSDLLRC GGFYTASDPN KEDIRAVELM LQAGHSDVVL VDTMDELPSL
ADVQLAHLRL RALCLPDSSV AEDKWLSALE GTRWLDYVRA CLRKASDISV LVTSRVRSVI
LQERGDRDLN GLLSSLVQLL SAPEARTLFG FQSLVQREWV AAGHPFLTRL GGTGASEEAP
VFLLFLDCVW QLLQQFPADF EFSEFFLLAL HDSVRVPDTL TFLRNTPWER GKQSGQLNSY
TQVYTPGYSQ PPAGNSFNLQ LSVWDWDLRY SNAQILQFQN PGYDPEHCPD SWLPRPQPSF
MVPGPPSSVW LFSRGALTPL NQLCPWRDSP SLLAVSSRWL PRPAISSESL ADQEWGLPSH
WGACPLPPGL LLPGYLGPQI RLWRRCYLRG RPEVQMGLSA PTISGLQDEL SHLQELLRKW
TPRISPEDHS KKRDPHTILN PTEIAGILKG QSHPFWITRC *

mutated AA sequence

MPPRVTFQPC GWQWNQDTPL NSEYDFALVN IGRLEAVSGL SRVQLLRPGS LHKFIPEEIL
IHGRDFRLLR VGFEAGGLEP QAFQVTVAIV QARAQSNQAQ QYSGITLSKA GQGSGSRKPP
IPLMETAEDW ETERKKQAAR GWRVSTVNER FDVATSLPRY FWVPNRILDS EVRRAFGHFH
QGRGPRLSWH HPGGSDLLRC GGFYTASDPN KEDIRAVELM LQAGHSDVVL VDTMDELPSL
ADVQLAHLRL RALCLPDSSV AEDKWLSALE GTRWLDYVRA CLRKASDISV LVTSRVRSVI
LQERGDRDLN GLLSSLVQLL SAPEARTLFG FQSLVQREWV AAGHPFLTRL GGTGASEEAP
VFLLFLDCVW QLLQQFPADF EFSEFFLLAL HDSVRVPDTL TFLRNTPWER GKQSGQLNSY
TQVYTPGYSQ PPAGNSFNLQ LSVWDWDLRY SNAQILQFQN PGYDPEHCPD SWLPRPQPSF
MVPGPPSSVW LFSRGALTPL NQLCPWRDSP SLLAVSSRWL PRPAISSESL ADQEWGLPSH
WGACPLPPGL LLPGYLGPQI RLWRRCYLRG RPEVQMGLSA PTISGLQDEL SHLQELLRKW
TPRISPEDHS KKRDPHTILN PTEIAGILKG QSHPFWITRC *

speed

0.93 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: 0.926983275484422 (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)

chr1:149906413T>CN/A show variant in all transcripts IGV

HGNC symbol

MTMR11

Ensembl transcript ID

ENST00000439741

Genbank transcript ID

NM_001145862

UniProt peptide

A4FU01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.475A>G
cDNA.726A>G
g.2379A>G

AA changes

M159V Score: 21 explain score(s)

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

159

frameshift

known variant

Reference ID: rs11205303

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	787	966
ExAC	7459	17849	25308

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.7	1
	0.526	1
(flanking)	1.343	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	2371	wt: 0.27 / mu: 0.36	wt: TGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCC mu: TGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCC	tgca\|GGTG
Acc marginally increased	2372	wt: 0.9736 / mu: 0.9776 (marginal change - not scored)	wt: GGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCCA mu: GGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCA	gcag\|GTGA
Acc marginally increased	2370	wt: 0.8364 / mu: 0.8916 (marginal change - not scored)	wt: ATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTC mu: ATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTC	ctgc\|AGGT
Acc marginally increased	2369	wt: 0.2126 / mu: 0.2449 (marginal change - not scored)	wt: GATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGT mu: GATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGT	tctg\|CAGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

159

mutated

all conserved

159

Ptroglodytes

all identical

ENSPTRG00000001244

159

Mmulatta

all identical

ENSMMUG00000007246

Fcatus

all identical

ENSFCAG00000010108

Mmusculus

all identical

ENSMUSG00000045934

164

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000069755

161

Dmelanogaster

not conserved

FBgn0030582

243

RFAYPMRHDL

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
165	165	CONFLICT	R -> G (in Ref. 2; BAG60917).	might get lost (downstream of altered splice site)
196	639	DOMAIN	Myotubularin phosphatase.	might get lost (downstream of altered splice site)
263	263	CONFLICT	H -> R (in Ref. 2; BAG53406).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2130 / 2130

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

710 / 710

position of stopcodon in wt / mu cDNA

2381 / 2381

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

252 / 252

chromosome

strand

-1

last intron/exon boundary

2193

theoretical NMD boundary in CDS

1891

length of CDS

2130

coding sequence (CDS) position

475

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

726

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

2379

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

149906413

original gDNA sequence snippet

CCTTTCCTCTGCAGGTGACCATGGCCATTGTCCAAGCCAGA

altered gDNA sequence snippet

CCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCAAGCCAGA

original cDNA sequence snippet

CTCAGGCTTTTCAGGTGACCATGGCCATTGTCCAAGCCAGA

altered cDNA sequence snippet

CTCAGGCTTTTCAGGTGACCGTGGCCATTGTCCAAGCCAGA

wildtype AA sequence

MWWGGRGQSF NIAPQKEEPE MGSVQENRMP EPRSRQPSSC LASRCLPGEQ ILAWAPGVRK
GLEPELSGTL ICTNFRVTFQ PCGWQWNQDT PLNSEYDFAL VNIGRLEAVS GLSRVQLLRP
GSLHKFIPEE ILIHGRDFRL LRVGFEAGGL EPQAFQVTMA IVQARAQSNQ AQQYSGITLS
KAGQGSGSRK PPIPLMETAE DWETERKKQA ARGWRVSTVN ERFDVATSLP RYFWVPNRIL
DSEVRRAFGH FHQGRGPRLS WHHPGGSDLL RCGGFYTASD PNKEDIRAVE LMLQAGHSDV
VLVDTMDELP SLADVQLAHL RLRALCLPDS SVAEDKWLSA LEGTRWLDYV RACLRKASDI
SVLVTSRVRS VILQERGDRD LNGLLSSLVQ LLSAPEARTL FGFQSLVQRE WVAAGHPFLT
RLGGTGASEE APVFLLFLDC VWQLLQQFPA DFEFSEFFLL ALHDSVRVPD TLTFLRNTPW
ERGKQSGQLN SYTQVYTPGY SQPPAGNSFN LQLSVWDWDL RYSNAQILQF QNPGYDPEHC
PDSWLPRPQP SFMVPGPPSS VWLFSRGALT PLNQLCPWRD SPSLLAVSSR WLPRPAISSE
SLADQEWGLP SHWGACPLPP GLLLPGYLGP QIRLWRRCYL RGRPEVQMGL SAPTISGLQD
ELSHLQELLR KWTPRISPED HSKKRDPHTI LNPTEIAGIL KGRAEGDLG*

mutated AA sequence

MWWGGRGQSF NIAPQKEEPE MGSVQENRMP EPRSRQPSSC LASRCLPGEQ ILAWAPGVRK
GLEPELSGTL ICTNFRVTFQ PCGWQWNQDT PLNSEYDFAL VNIGRLEAVS GLSRVQLLRP
GSLHKFIPEE ILIHGRDFRL LRVGFEAGGL EPQAFQVTVA IVQARAQSNQ AQQYSGITLS
KAGQGSGSRK PPIPLMETAE DWETERKKQA ARGWRVSTVN ERFDVATSLP RYFWVPNRIL
DSEVRRAFGH FHQGRGPRLS WHHPGGSDLL RCGGFYTASD PNKEDIRAVE LMLQAGHSDV
VLVDTMDELP SLADVQLAHL RLRALCLPDS SVAEDKWLSA LEGTRWLDYV RACLRKASDI
SVLVTSRVRS VILQERGDRD LNGLLSSLVQ LLSAPEARTL FGFQSLVQRE WVAAGHPFLT
RLGGTGASEE APVFLLFLDC VWQLLQQFPA DFEFSEFFLL ALHDSVRVPD TLTFLRNTPW
ERGKQSGQLN SYTQVYTPGY SQPPAGNSFN LQLSVWDWDL RYSNAQILQF QNPGYDPEHC
PDSWLPRPQP SFMVPGPPSS VWLFSRGALT PLNQLCPWRD SPSLLAVSSR WLPRPAISSE
SLADQEWGLP SHWGACPLPP GLLLPGYLGP QIRLWRRCYL RGRPEVQMGL SAPTISGLQD
ELSHLQELLR KWTPRISPED HSKKRDPHTI LNPTEIAGIL KGRAEGDLG*

speed

1.05 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.926983275484422 (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)

chr1:149906413T>CN/A show variant in all transcripts IGV

HGNC symbol

MTMR11

Ensembl transcript ID

ENST00000361405

Genbank transcript ID

N/A

UniProt peptide

A4FU01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.475A>G
cDNA.726A>G
g.2379A>G

AA changes

M159V Score: 21 explain score(s)

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

159

frameshift

known variant

Reference ID: rs11205303

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	787	966
ExAC	7459	17849	25308

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.7	1
	0.526	1
(flanking)	1.343	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	2371	wt: 0.27 / mu: 0.36	wt: TGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCC mu: TGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCC	tgca\|GGTG
Acc marginally increased	2372	wt: 0.9736 / mu: 0.9776 (marginal change - not scored)	wt: GGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCCA mu: GGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCA	gcag\|GTGA
Acc marginally increased	2370	wt: 0.8364 / mu: 0.8916 (marginal change - not scored)	wt: ATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTC mu: ATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTC	ctgc\|AGGT
Acc marginally increased	2369	wt: 0.2126 / mu: 0.2449 (marginal change - not scored)	wt: GATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGT mu: GATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGT	tctg\|CAGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

159

mutated

all conserved

159

Ptroglodytes

all identical

ENSPTRG00000001244

159

Mmulatta

all identical

ENSMMUG00000007246

Fcatus

all identical

ENSFCAG00000010108

Mmusculus

all identical

ENSMUSG00000045934

164

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000069755

161

Dmelanogaster

not conserved

FBgn0030582

243

RFAYPMRHDL

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
165	165	CONFLICT	R -> G (in Ref. 2; BAG60917).	might get lost (downstream of altered splice site)
196	639	DOMAIN	Myotubularin phosphatase.	might get lost (downstream of altered splice site)
263	263	CONFLICT	H -> R (in Ref. 2; BAG53406).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

819 / 819

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

273 / 273

position of stopcodon in wt / mu cDNA

1070 / 1070

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

252 / 252

chromosome

strand

-1

last intron/exon boundary

1586

theoretical NMD boundary in CDS

1284

length of CDS

819

coding sequence (CDS) position

475

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

726

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

2379

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

149906413

original gDNA sequence snippet

CCTTTCCTCTGCAGGTGACCATGGCCATTGTCCAAGCCAGA

altered gDNA sequence snippet

CCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCAAGCCAGA

original cDNA sequence snippet

CTCAGGCTTTTCAGGTGACCATGGCCATTGTCCAAGCCAGA

altered cDNA sequence snippet

CTCAGGCTTTTCAGGTGACCGTGGCCATTGTCCAAGCCAGA

wildtype AA sequence

mutated AA sequence

speed

0.99 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.926983275484422 (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)

chr1:149906413T>CN/A show variant in all transcripts IGV

HGNC symbol

MTMR11

Ensembl transcript ID

ENST00000406732

Genbank transcript ID

N/A

UniProt peptide

A4FU01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.391A>G
cDNA.726A>G
g.2379A>G

AA changes

M131V Score: 21 explain score(s)

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

131

frameshift

known variant

Reference ID: rs11205303

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	787	966
ExAC	7459	17849	25308

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.7	1
	0.526	1
(flanking)	1.343	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	2371	wt: 0.27 / mu: 0.36	wt: TGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCC mu: TGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCC	tgca\|GGTG
Acc marginally increased	2372	wt: 0.9736 / mu: 0.9776 (marginal change - not scored)	wt: GGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCCA mu: GGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCA	gcag\|GTGA
Acc marginally increased	2370	wt: 0.8364 / mu: 0.8916 (marginal change - not scored)	wt: ATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTC mu: ATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTC	ctgc\|AGGT
Acc marginally increased	2369	wt: 0.2126 / mu: 0.2449 (marginal change - not scored)	wt: GATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGT mu: GATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGT	tctg\|CAGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

131

mutated

all conserved

131

Ptroglodytes

all identical

ENSPTRG00000001244

159

Mmulatta

all identical

ENSMMUG00000007246

Fcatus

all identical

ENSFCAG00000010108

Mmusculus

all identical

ENSMUSG00000045934

164

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000069755

161

Dmelanogaster

not conserved

FBgn0030582

243

RFAYPMRHDL

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
165	165	CONFLICT	R -> G (in Ref. 2; BAG60917).	might get lost (downstream of altered splice site)
196	639	DOMAIN	Myotubularin phosphatase.	might get lost (downstream of altered splice site)
263	263	CONFLICT	H -> R (in Ref. 2; BAG53406).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1065 / 1065

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

355 / 355

position of stopcodon in wt / mu cDNA

1400 / 1400

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

336 / 336

chromosome

strand

-1

last intron/exon boundary

2026

theoretical NMD boundary in CDS

1640

length of CDS

1065

coding sequence (CDS) position

391

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

726

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

2379

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

149906413

original gDNA sequence snippet

CCTTTCCTCTGCAGGTGACCATGGCCATTGTCCAAGCCAGA

altered gDNA sequence snippet

CCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCAAGCCAGA

original cDNA sequence snippet

CTCAGGCTTTTCAGGTGACCATGGCCATTGTCCAAGCCAGA

altered cDNA sequence snippet

CTCAGGCTTTTCAGGTGACCGTGGCCATTGTCCAAGCCAGA

wildtype AA sequence

MPEPRSRQPS SCLASRCLPG EQILAWAPGV RKGLEPELSG TLICTNFRVT FQPCGWQWNQ
DTPLNSEYDF ALVNIGRLEA VSGLSRVQLL RPGSLHKFIP EEILIHGRDF RLLRVGFEAG
GLEPQAFQVT MAIVQARAQS NQAQQYSGIT LSKAGQGSGS RKPPIPLMET AEDWETERKK
QAARGWRVST VNERFDVATS LPRYFWVPNR ILDSEVRRAF GHFHQGRGPR LSWHHPGGSD
LLRCGGFYTA SDPNKEDIRA VELMLQAGHS DVVLVDTMDE LPSLADVQLA HLRLRALCLP
DSSVAEDKWL SALEGTRWLD YVRACLRKAS DISVLVTSRV RSVILQGSGV SPLP*

mutated AA sequence

MPEPRSRQPS SCLASRCLPG EQILAWAPGV RKGLEPELSG TLICTNFRVT FQPCGWQWNQ
DTPLNSEYDF ALVNIGRLEA VSGLSRVQLL RPGSLHKFIP EEILIHGRDF RLLRVGFEAG
GLEPQAFQVT VAIVQARAQS NQAQQYSGIT LSKAGQGSGS RKPPIPLMET AEDWETERKK
QAARGWRVST VNERFDVATS LPRYFWVPNR ILDSEVRRAF GHFHQGRGPR LSWHHPGGSD
LLRCGGFYTA SDPNKEDIRA VELMLQAGHS DVVLVDTMDE LPSLADVQLA HLRLRALCLP
DSSVAEDKWL SALEGTRWLD YVRACLRKAS DISVLVTSRV RSVILQGSGV SPLP*

speed

0.78 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

Problems