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: ENST00000374840
Querying Taster for transcript #2: ENST00000374832
Querying Taster for transcript #3: ENST00000425315
Querying Taster for transcript #4: ENST00000539907
Querying Taster for transcript #5: ENST00000540617
MT speed 0 s - this script 6.020957 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ALPL	disease_causing_automatic	0.999996488940009	simple_aae			0	A33V	single base exchange	rs121918005		show file
ALPL	disease_causing_automatic	0.999996488940009	simple_aae			0	A33V	single base exchange	rs121918005		show file
ALPL	disease_causing_automatic	0.999996488940009	simple_aae			0	A33V	single base exchange	rs121918005		show file
ALPL	disease_causing_automatic	1	without_aae			0		single base exchange	rs121918005		show file
ALPL	disease_causing_automatic	1	without_aae			0		single base exchange	rs121918005		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999996488940009 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920016)
known disease mutation: rs13667 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:21887155C>TN/A show variant in all transcripts IGV

HGNC symbol

ALPL

Ensembl transcript ID

ENST00000374840

Genbank transcript ID

NM_000478

UniProt peptide

P05186

alteration type

single base exchange

alteration region

CDS

DNA changes

c.98C>T
cDNA.348C>T
g.51298C>T

AA changes

A33V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs121918005

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

known disease mutation: rs13667 (pathogenic for Infantile hypophosphatasia|Childhood hypophosphatasia|Hypophosphatasia|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920016)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920016)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920016)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.863	1
	3.863	0.998
(flanking)	-1.566	0.187

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	51291	wt: 0.9088 / mu: 0.9923 (marginal change - not scored)	wt: GGCGAGACCAAGCGC mu: GGCGAGACCAAGTGC	CGAG\|acca
Donor marginally increased	51302	wt: 0.8397 / mu: 0.8869 (marginal change - not scored)	wt: GCGCAAGAGACACTG mu: GTGCAAGAGACACTG	GCAA\|gaga
Donor marginally increased	51296	wt: 0.3412 / mu: 0.3481 (marginal change - not scored)	wt: GACCAAGCGCAAGAG mu: GACCAAGTGCAAGAG	CCAA\|gcgc

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

no homologue

Mmulatta

all identical

ENSMMUG00000002217

Fcatus

all identical

ENSFCAG00000002960

Mmusculus

all identical

ENSMUSG00000028766

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000004463

Drerio

all identical

ENSDARG00000015546

Dmelanogaster

all identical

FBgn0043791

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1575 / 1575

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

525 / 525

position of stopcodon in wt / mu cDNA

1825 / 1825

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

251 / 251

chromosome

strand

last intron/exon boundary

1560

theoretical NMD boundary in CDS

1259

length of CDS

1575

coding sequence (CDS) position

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

348

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

51298

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

21887155

original gDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered gDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

original cDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered cDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

wildtype AA sequence

MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*

mutated AA sequence

MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQVQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*

speed

1.43 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

disease causing

Model: simple_aae, prob: 0.999996488940009 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920016)
known disease mutation: rs13667 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:21887155C>TN/A show variant in all transcripts IGV

HGNC symbol

ALPL

Ensembl transcript ID

ENST00000374832

Genbank transcript ID

N/A

UniProt peptide

P05186

alteration type

single base exchange

alteration region

CDS

DNA changes

c.98C>T
cDNA.352C>T
g.51298C>T

AA changes

A33V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs121918005

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.863	1
	3.863	0.998
(flanking)	-1.566	0.187

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	51291	wt: 0.9088 / mu: 0.9923 (marginal change - not scored)	wt: GGCGAGACCAAGCGC mu: GGCGAGACCAAGTGC	CGAG\|acca
Donor marginally increased	51302	wt: 0.8397 / mu: 0.8869 (marginal change - not scored)	wt: GCGCAAGAGACACTG mu: GTGCAAGAGACACTG	GCAA\|gaga
Donor marginally increased	51296	wt: 0.3412 / mu: 0.3481 (marginal change - not scored)	wt: GACCAAGCGCAAGAG mu: GACCAAGTGCAAGAG	CCAA\|gcgc

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

no homologue

Mmulatta

all identical

ENSMMUG00000002217

Fcatus

all identical

ENSFCAG00000002960

Mmusculus

all identical

ENSMUSG00000028766

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000004463

Drerio

all identical

ENSDARG00000015546

Dmelanogaster

all identical

FBgn0043791

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1575 / 1575

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

525 / 525

position of stopcodon in wt / mu cDNA

1829 / 1829

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

255 / 255

chromosome

strand

last intron/exon boundary

1564

theoretical NMD boundary in CDS

1259

length of CDS

1575

coding sequence (CDS) position

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

352

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

51298

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

21887155

original gDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered gDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

original cDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered cDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

wildtype AA sequence

mutated AA sequence

speed

0.49 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999996488940009 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920016)
known disease mutation: rs13667 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:21887155C>TN/A show variant in all transcripts IGV

HGNC symbol

ALPL

Ensembl transcript ID

ENST00000425315

Genbank transcript ID

N/A

UniProt peptide

P05186

alteration type

single base exchange

alteration region

CDS

DNA changes

c.98C>T
cDNA.98C>T
g.51298C>T

AA changes

A33V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs121918005

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.863	1
	3.863	0.998
(flanking)	-1.566	0.187

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	51291	wt: 0.9088 / mu: 0.9923 (marginal change - not scored)	wt: GGCGAGACCAAGCGC mu: GGCGAGACCAAGTGC	CGAG\|acca
Donor marginally increased	51302	wt: 0.8397 / mu: 0.8869 (marginal change - not scored)	wt: GCGCAAGAGACACTG mu: GTGCAAGAGACACTG	GCAA\|gaga
Donor marginally increased	51296	wt: 0.3412 / mu: 0.3481 (marginal change - not scored)	wt: GACCAAGCGCAAGAG mu: GACCAAGTGCAAGAG	CCAA\|gcgc

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

no homologue

Mmulatta

all identical

ENSMMUG00000002217

Fcatus

all identical

ENSFCAG00000002960

Mmusculus

all identical

ENSMUSG00000028766

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000004463

Drerio

all identical

ENSDARG00000015546

Dmelanogaster

all identical

FBgn0043791

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1575 / 1575

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

525 / 525

position of stopcodon in wt / mu cDNA

1575 / 1575

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

1 / 1

chromosome

strand

last intron/exon boundary

1310

theoretical NMD boundary in CDS

1259

length of CDS

1575

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)

51298

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

21887155

original gDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered gDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

original cDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered cDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

wildtype AA sequence

mutated AA sequence

speed

1.40 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM920016)
known disease mutation: rs13667 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:21887155C>TN/A show variant in all transcripts IGV

HGNC symbol

ALPL

Ensembl transcript ID

ENST00000540617

Genbank transcript ID

NM_001127501

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.190C>T
g.51298C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121918005

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.863	1
	3.863	0.998
(flanking)	-1.566	0.187

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	51291	wt: 0.9088 / mu: 0.9923 (marginal change - not scored)	wt: GGCGAGACCAAGCGC mu: GGCGAGACCAAGTGC	CGAG\|acca
Donor marginally increased	51302	wt: 0.8397 / mu: 0.8869 (marginal change - not scored)	wt: GCGCAAGAGACACTG mu: GTGCAAGAGACACTG	GCAA\|gaga
Donor marginally increased	51296	wt: 0.3412 / mu: 0.3481 (marginal change - not scored)	wt: GACCAAGCGCAAGAG mu: GACCAAGTGCAAGAG	CCAA\|gcgc

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

258 / 258

chromosome

strand

last intron/exon boundary

1402

theoretical NMD boundary in CDS

1094

length of CDS

1410

coding sequence (CDS) position

N/A

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

190

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

51298

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

21887155

original gDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered gDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

original cDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered cDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

wildtype AA sequence

MFLGDGMGVS TVTAARILKG QLHHNPGEET RLEMDKFPFV ALSKTYNTNA QVPDSAGTAT
AYLCGVKANE GTVGVSAATE RSRCNTTQGN EVTSILRWAK DAGKSVGIVT TTRVNHATPS
AAYAHSADRD WYSDNEMPPE ALSQGCKDIA YQLMHNIRDI DVIMGGGRKY MYPKNKTDVE
YESDEKARGT RLDGLDLVDT WKSFKPRYKH SHFIWNRTEL LTLDPHNVDY LLGLFEPGDM
QYELNRNNVT DPSLSEMVVV AIQILRKNPK GFFLLVEGGR IDHGHHEGKA KQALHEAVEM
DRAIGQAGSL TSSEDTLTVV TADHSHVFTF GGYTPRGNSI FGLAPMLSDT DKKPFTAILY
GNGPGYKVVG GERENVSMVD YAHNNYQAQS AVPLRHETHG GEDVAVFSKG PMAHLLHGVH
EQNYVPHVMA YAACIGANLG HCAPASSAGS LAAGPLLLAL ALYPLSVLF*

mutated AA sequence

N/A

speed

0.35 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM920016)
known disease mutation: rs13667 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:21887155C>TN/A show variant in all transcripts IGV

HGNC symbol

ALPL

Ensembl transcript ID

ENST00000539907

Genbank transcript ID

NM_001177520

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.190C>T
g.51298C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121918005

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.863	1
	3.863	0.998
(flanking)	-1.566	0.187

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	51291	wt: 0.9088 / mu: 0.9923 (marginal change - not scored)	wt: GGCGAGACCAAGCGC mu: GGCGAGACCAAGTGC	CGAG\|acca
Donor marginally increased	51302	wt: 0.8397 / mu: 0.8869 (marginal change - not scored)	wt: GCGCAAGAGACACTG mu: GTGCAAGAGACACTG	GCAA\|gaga
Donor marginally increased	51296	wt: 0.3412 / mu: 0.3481 (marginal change - not scored)	wt: GACCAAGCGCAAGAG mu: GACCAAGTGCAAGAG	CCAA\|gcgc

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

208 / 208

chromosome

strand

last intron/exon boundary

1286

theoretical NMD boundary in CDS

1028

length of CDS

1344

coding sequence (CDS) position

N/A

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

190

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

51298

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

21887155

original gDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered gDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

original cDNA sequence snippet

CAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG

altered cDNA sequence snippet

CAAGTACTGGCGAGACCAAGTGCAAGAGACACTGAAATATG

wildtype AA sequence

MPWSFRSSTP TWLRMSSCSW EMTYNTNAQV PDSAGTATAY LCGVKANEGT VGVSAATERS
RCNTTQGNEV TSILRWAKDA GKSVGIVTTT RVNHATPSAA YAHSADRDWY SDNEMPPEAL
SQGCKDIAYQ LMHNIRDIDV IMGGGRKYMY PKNKTDVEYE SDEKARGTRL DGLDLVDTWK
SFKPRYKHSH FIWNRTELLT LDPHNVDYLL GLFEPGDMQY ELNRNNVTDP SLSEMVVVAI
QILRKNPKGF FLLVEGGRID HGHHEGKAKQ ALHEAVEMDR AIGQAGSLTS SEDTLTVVTA
DHSHVFTFGG YTPRGNSIFG LAPMLSDTDK KPFTAILYGN GPGYKVVGGE RENVSMVDYA
HNNYQAQSAV PLRHETHGGE DVAVFSKGPM AHLLHGVHEQ NYVPHVMAYA ACIGANLGHC
APASSAGSLA AGPLLLALAL YPLSVLF*

mutated AA sequence

N/A

speed

1.13 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems