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: ENST00000410032
Querying Taster for transcript #2: ENST00000264605
Querying Taster for transcript #3: ENST00000338530
Querying Taster for transcript #4: ENST00000409373
Querying Taster for transcript #5: ENST00000445024
MT speed 0 s - this script 4.569305 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MLPH	polymorphism_automatic	3.22963877863458e-13	simple_aae		affected		V231A	single base exchange	rs3817362		show file
MLPH	polymorphism_automatic	2.64099853097832e-12	simple_aae		affected		V346A	single base exchange	rs3817362		show file
MLPH	polymorphism_automatic	2.64099853097832e-12	simple_aae		affected		V306A	single base exchange	rs3817362		show file
MLPH	polymorphism_automatic	2.70694577864106e-12	simple_aae		affected		V374A	single base exchange	rs3817362		show file
MLPH	polymorphism_automatic	2.70694577864106e-12	simple_aae		affected		V374A	single base exchange	rs3817362		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999677 (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)

chr2:238449007T>CN/A show variant in all transcripts IGV

HGNC symbol

MLPH

Ensembl transcript ID

ENST00000410032

Genbank transcript ID

N/A

UniProt peptide

Q9BV36

alteration type

single base exchange

alteration region

CDS

DNA changes

c.692T>C
cDNA.1085T>C
g.54937T>C

AA changes

V231A Score: 64 explain score(s)

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

231

frameshift

known variant

Reference ID: rs3817362

database	homozygous (C/C)	heterozygous	allele carriers
1000G	614	933	1547
ExAC	5608	18256	23864

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.721	0
	-0.02	0
(flanking)	-0.194	0

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	54941	wt: 0.26 / mu: 0.45	wt: GTGCGCACGGAGGCC mu: GCGCGCACGGAGGCC	GCGC\|acgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

231

mutated

not conserved

231

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000012089

118

Fcatus

no alignment

ENSFCAG00000012722

n/a

Mmusculus

not conserved

ENSMUSG00000026303

229

EDT

Ggallus

not conserved

ENSGALG00000003904

231

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000070991

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000032232

250

TSQKESLIAEADLASMFHHILQE

ASPEQE

protein features

start (aa)	end (aa)	feature	details
253	253	CONFLICT	G -> R (in Ref. 1; AK225381).	might get lost (downstream of altered splice site)
314	314	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
373	496	COILED	Potential.	might get lost (downstream of altered splice site)
458	458	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
552	552	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
577	577	CONFLICT	Q -> R (in Ref. 1; BAB13984).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1374 / 1374

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

458 / 458

position of stopcodon in wt / mu cDNA

1767 / 1767

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

394 / 394

chromosome

strand

last intron/exon boundary

1741

theoretical NMD boundary in CDS

1297

length of CDS

1374

coding sequence (CDS) position

692

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

1085

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

54937

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

238449007

original gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

original cDNA sequence snippet

ACAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered cDNA sequence snippet

ACAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

wildtype AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQGLGAG VRTEADVEEE
ALRRKLEELT SNVSDQETSS EEEEAKDEKA EPNRDKSVGP LPQADPEVGT AAHQTNRQEK
SPQDPGDPVQ YNRTTDEELS ELEDRVAVTA SEVQQAESEV SDIESRIAAL RAAGLTVKPS
GKPRRKSNLP IFLPRVAGKL GKRPEDPNAD PSSEAKAMAV PYLLRRKFSN SLKSQGKDDD
SFDRKSVYRG SLTQRNPNAR KGMASHTFAK PVVAHQS*

mutated AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQGLGAG ARTEADVEEE
ALRRKLEELT SNVSDQETSS EEEEAKDEKA EPNRDKSVGP LPQADPEVGT AAHQTNRQEK
SPQDPGDPVQ YNRTTDEELS ELEDRVAVTA SEVQQAESEV SDIESRIAAL RAAGLTVKPS
GKPRRKSNLP IFLPRVAGKL GKRPEDPNAD PSSEAKAMAV PYLLRRKFSN SLKSQGKDDD
SFDRKSVYRG SLTQRNPNAR KGMASHTFAK PVVAHQS*

speed

0.85 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: 0.999999999997359 (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)

chr2:238449007T>CN/A show variant in all transcripts IGV

HGNC symbol

MLPH

Ensembl transcript ID

ENST00000338530

Genbank transcript ID

NM_001042467

UniProt peptide

Q9BV36

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1037T>C
cDNA.1248T>C
g.54937T>C

AA changes

V346A Score: 64 explain score(s)

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

346

frameshift

known variant

Reference ID: rs3817362

database	homozygous (C/C)	heterozygous	allele carriers
1000G	614	933	1547
ExAC	5608	18256	23864

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.721	0
	-0.02	0
(flanking)	-0.194	0

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	54941	wt: 0.26 / mu: 0.45	wt: GTGCGCACGGAGGCC mu: GCGCGCACGGAGGCC	GCGC\|acgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

346

mutated

not conserved

346

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000012089

121

Fcatus

not conserved

ENSFCAG00000012722

345

Mmusculus

not conserved

ENSMUSG00000026303

345

RMSAVEHLLVHLE

Ggallus

not conserved

ENSGALG00000003904

363

RLEEKLLVRS

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000070991

323

NELSKRMSAIESLLNR

DQPALPPAGH

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000032232

359

protein features

start (aa)	end (aa)	feature	details
373	496	COILED	Potential.	might get lost (downstream of altered splice site)
458	458	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
552	552	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
577	577	CONFLICT	Q -> R (in Ref. 1; BAB13984).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1719 / 1719

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

573 / 573

position of stopcodon in wt / mu cDNA

1930 / 1930

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

212 / 212

chromosome

strand

last intron/exon boundary

1904

theoretical NMD boundary in CDS

1642

length of CDS

1719

coding sequence (CDS) position

1037

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

1248

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

54937

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

238449007

original gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

original cDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered cDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

wildtype AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK
AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ GLGAGVRTEA DVEEEALRRK
LEELTSNVSD QETSSEEEEA KDEKAEPNRD KSVGPLPQAD PEVGTAAHQT NRQEKSPQDP
GDPVQYNRTT DEELSELEDR VAVTASEVQQ AESEVSDIES RIAALRAAGL TVKPSGKPRR
KSNLPIFLPR VAGKLGKRPE DPNADPSSEA KAMAVPYLLR RKFSNSLKSQ GKDDDSFDRK
SVYRGSLTQR NPNARKGMAS HTFAKPVVAH QS*

mutated AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK
AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ GLGAGARTEA DVEEEALRRK
LEELTSNVSD QETSSEEEEA KDEKAEPNRD KSVGPLPQAD PEVGTAAHQT NRQEKSPQDP
GDPVQYNRTT DEELSELEDR VAVTASEVQQ AESEVSDIES RIAALRAAGL TVKPSGKPRR
KSNLPIFLPR VAGKLGKRPE DPNADPSSEA KAMAVPYLLR RKFSNSLKSQ GKDDDSFDRK
SVYRGSLTQR NPNARKGMAS HTFAKPVVAH QS*

speed

1.28 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997359 (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)

chr2:238449007T>CN/A show variant in all transcripts IGV

HGNC symbol

MLPH

Ensembl transcript ID

ENST00000409373

Genbank transcript ID

N/A

UniProt peptide

Q9BV36

alteration type

single base exchange

alteration region

CDS

DNA changes

c.917T>C
cDNA.1103T>C
g.54937T>C

AA changes

V306A Score: 64 explain score(s)

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

306

frameshift

known variant

Reference ID: rs3817362

database	homozygous (C/C)	heterozygous	allele carriers
1000G	614	933	1547
ExAC	5608	18256	23864

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.721	0
	-0.02	0
(flanking)	-0.194	0

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	54941	wt: 0.26 / mu: 0.45	wt: GTGCGCACGGAGGCC mu: GCGCGCACGGAGGCC	GCGC\|acgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

306

mutated

not conserved

306

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000012089

121

Fcatus

not conserved

ENSFCAG00000012722

345

Mmusculus

not conserved

ENSMUSG00000026303

345

RMSAVEHLLVHLE

Ggallus

not conserved

ENSGALG00000003904

363

RLEEKLLVRS

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000070991

316

QENI

GAPPINELSKRMSAIESLLNR

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000032232

361

protein features

start (aa)	end (aa)	feature	details
314	314	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
373	496	COILED	Potential.	might get lost (downstream of altered splice site)
458	458	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
552	552	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
577	577	CONFLICT	Q -> R (in Ref. 1; BAB13984).	might get lost (downstream of altered splice site)

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

1629 / 1629

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

last intron/exon boundary

1603

theoretical NMD boundary in CDS

1366

length of CDS

1443

coding sequence (CDS) position

917

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

1103

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

54937

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

238449007

original gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

original cDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered cDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

wildtype AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKSLTDE SCSEKAAPHK AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG
GSHRMALGTA AALGSNVIRN EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ
GLGAGVRTEA DVEEEALRRK LEELTSNVSD QETSSEEEEA KDEKAEPNRD KSVGPLPQAD
PEVSDIESRI AALRAAGLTV KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA
MAVPYLLRRK FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS
*

mutated AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKSLTDE SCSEKAAPHK AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG
GSHRMALGTA AALGSNVIRN EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ
GLGAGARTEA DVEEEALRRK LEELTSNVSD QETSSEEEEA KDEKAEPNRD KSVGPLPQAD
PEVSDIESRI AALRAAGLTV KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA
MAVPYLLRRK FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS
*

speed

0.70 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997293 (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)

chr2:238449007T>CN/A show variant in all transcripts IGV

HGNC symbol

MLPH

Ensembl transcript ID

ENST00000264605

Genbank transcript ID

NM_024101

UniProt peptide

Q9BV36

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1121T>C
cDNA.1415T>C
g.54937T>C

AA changes

V374A Score: 64 explain score(s)

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

374

frameshift

known variant

Reference ID: rs3817362

database	homozygous (C/C)	heterozygous	allele carriers
1000G	614	933	1547
ExAC	5608	18256	23864

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.721	0
	-0.02	0
(flanking)	-0.194	0

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	54941	wt: 0.26 / mu: 0.45	wt: GTGCGCACGGAGGCC mu: GCGCGCACGGAGGCC	GCGC\|acgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

374

mutated

not conserved

374

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000012089

144

Fcatus

no alignment

ENSFCAG00000012722

n/a

Mmusculus

not conserved

ENSMUSG00000026303

373

Ggallus

not conserved

ENSGALG00000003904

373

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000070991

351

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000032232

378

protein features

start (aa)	end (aa)	feature	details
373	496	COILED	Potential.	lost
458	458	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
552	552	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
577	577	CONFLICT	Q -> R (in Ref. 1; BAB13984).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1803 / 1803

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

601 / 601

position of stopcodon in wt / mu cDNA

2097 / 2097

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

295 / 295

chromosome

strand

last intron/exon boundary

2071

theoretical NMD boundary in CDS

1726

length of CDS

1803

coding sequence (CDS) position

1121

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

1415

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

54937

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

238449007

original gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

original cDNA sequence snippet

CAAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered cDNA sequence snippet

CAAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

wildtype AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK
AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA VECLLTYLEN
TVVPPLAKGL GAGVRTEADV EEEALRRKLE ELTSNVSDQE TSSEEEEAKD EKAEPNRDKS
VGPLPQADPE VGTAAHQTNR QEKSPQDPGD PVQYNRTTDE ELSELEDRVA VTASEVQQAE
SEVSDIESRI AALRAAGLTV KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA
MAVPYLLRRK FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS
*

mutated AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK
AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA VECLLTYLEN
TVVPPLAKGL GAGARTEADV EEEALRRKLE ELTSNVSDQE TSSEEEEAKD EKAEPNRDKS
VGPLPQADPE VGTAAHQTNR QEKSPQDPGD PVQYNRTTDE ELSELEDRVA VTASEVQQAE
SEVSDIESRI AALRAAGLTV KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA
MAVPYLLRRK FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS
*

speed

1.24 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997293 (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)

chr2:238449007T>CN/A show variant in all transcripts IGV

HGNC symbol

MLPH

Ensembl transcript ID

ENST00000445024

Genbank transcript ID

N/A

UniProt peptide

Q9BV36

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1121T>C
cDNA.1333T>C
g.54937T>C

AA changes

V374A Score: 64 explain score(s)

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

374

frameshift

known variant

Reference ID: rs3817362

database	homozygous (C/C)	heterozygous	allele carriers
1000G	614	933	1547
ExAC	5608	18256	23864

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.721	0
	-0.02	0
(flanking)	-0.194	0

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	54941	wt: 0.26 / mu: 0.45	wt: GTGCGCACGGAGGCC mu: GCGCGCACGGAGGCC	GCGC\|acgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

374

mutated

not conserved

374

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000012089

144

Fcatus

no alignment

ENSFCAG00000012722

n/a

Mmusculus

not conserved

ENSMUSG00000026303

373

Ggallus

not conserved

ENSGALG00000003904

373

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000070991

351

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000032232

378

protein features

start (aa)	end (aa)	feature	details
373	496	COILED	Potential.	lost
458	458	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
552	552	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
577	577	CONFLICT	Q -> R (in Ref. 1; BAB13984).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1656 / 1656

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

552 / 552

position of stopcodon in wt / mu cDNA

1868 / 1868

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

213 / 213

chromosome

strand

last intron/exon boundary

2178

theoretical NMD boundary in CDS

1915

length of CDS

1656

coding sequence (CDS) position

1121

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

1333

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

54937

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

238449007

original gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered gDNA sequence snippet

TCAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

original cDNA sequence snippet

CAAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG

altered cDNA sequence snippet

CAAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG

wildtype AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK
AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA VECLLTYLEN
TVVPPLAKGL GAGVRTEADV EEEALRRKLE ELTSNVSDQE TSSEEEEAKD EKAEPNRDKS
VGPLPQADPE VGTAAHQTNR QEKSPQDPGD PVQYNRTTDE ELSELEDRVA VTASEVQQAE
SEVSDIESRI AALRAAGLTV KPSGKPRRKS NLPALYEGTL SLCSEDLKHT HPDSVKSKRS
RLNHVASCGN P*

mutated AA sequence

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK
AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA VECLLTYLEN
TVVPPLAKGL GAGARTEADV EEEALRRKLE ELTSNVSDQE TSSEEEEAKD EKAEPNRDKS
VGPLPQADPE VGTAAHQTNR QEKSPQDPGD PVQYNRTTDE ELSELEDRVA VTASEVQQAE
SEVSDIESRI AALRAAGLTV KPSGKPRRKS NLPALYEGTL SLCSEDLKHT HPDSVKSKRS
RLNHVASCGN P*

speed

1.03 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