MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000264012
Querying Taster for transcript #2: ENST00000429102
Querying Taster for transcript #3: ENST00000581171
MT speed 0 s - this script 4.355811 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CDH3	disease_causing_automatic	0.999991477788163	simple_aae		affected	0	R503H	single base exchange	rs121434542		show file
CDH3	disease_causing_automatic	0.999991477788163	simple_aae		affected	0	R503H	single base exchange	rs121434542		show file
CDH3	disease_causing_automatic	0.999991477788163	simple_aae		affected	0	R448H	single base exchange	rs121434542		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999991477788163 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM023041)
known disease mutation: rs17639 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:68719191G>AN/A show variant in all transcripts IGV

HGNC symbol

CDH3

Ensembl transcript ID

ENST00000264012

Genbank transcript ID

NM_001793

UniProt peptide

P22223

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1508G>A
cDNA.2052G>A
g.49100G>A

AA changes

R503H Score: 29 explain score(s)

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

503

frameshift

known variant

Reference ID: rs121434542
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs17639 (pathogenic for Congenital hypotrichosis with juvenile macular dystrophy) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023041)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023041)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
USF1, Transcription Factor, USF1 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.533	0.995
	3.627	0.992
(flanking)	-2.057	0.057

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	49103	wt: 0.42 / mu: 0.59	wt: TGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGAGGA mu: TGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGAGGA	gtga\|GGAT
Donor marginally increased	49104	wt: 0.9747 / mu: 0.9885 (marginal change - not scored)	wt: CGTGAGGATGAGCAG mu: CATGAGGATGAGCAG	TGAG\|gatg
Donor gained	49101	0.30	mu: GACCATGAGGATGAG	CCAT\|gagg
Donor gained	49098	0.36	mu: CTCGACCATGAGGAT	CGAC\|catg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

503

mutated

not conserved

503

Ptroglodytes

all identical

ENSPTRG00000008269

503

Mmulatta

all identical

ENSMMUG00000010393

451

Fcatus

all identical

ENSFCAG00000001062

442

Mmusculus

all identical

ENSMUSG00000061048

495

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000002439

437

Drerio

all identical

ENSDARG00000024371

537

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000025992

551

protein features

start (aa)	end (aa)	feature	details
108	654	TOPO_DOM	Extracellular (Potential).	lost
441	546	DOMAIN	Cadherin 4.	lost
547	650	DOMAIN	Cadherin 5.	might get lost (downstream of altered splice site)
566	566	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
655	677	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
678	829	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
713	713	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
785	800	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2490 / 2490

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

830 / 830

position of stopcodon in wt / mu cDNA

3034 / 3034

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

545 / 545

chromosome

strand

last intron/exon boundary

2825

theoretical NMD boundary in CDS

2230

length of CDS

2490

coding sequence (CDS) position

1508

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

2052

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

49100

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

68719191

original gDNA sequence snippet

AGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGA

altered gDNA sequence snippet

AGCTGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGA

original cDNA sequence snippet

AGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGA

altered cDNA sequence snippet

AGCTGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGA

wildtype AA sequence

MGLPRGPLAS LLLLQVCWLQ CAASEPCRAV FREAEVTLEA GGAEQEPGQA LGKVFMGCPG
QEPALFSTDN DDFTVRNGET VQERRSLKER NPLKIFPSKR ILRRHKRDWV VAPISVPENG
KGPFPQRLNQ LKSNKDRDTK IFYSITGPGA DSPPEGVFAV EKETGWLLLN KPLDREEIAK
YELFGHAVSE NGASVEDPMN ISIIVTDQND HKPKFTQDTF RGSVLEGVLP GTSVMQVTAT
DEDDAIYTYN GVVAYSIHSQ EPKDPHDLMF TIHRSTGTIS VISSGLDREK VPEYTLTIQA
TDMDGDGSTT TAVAVVEILD ANDNAPMFDP QKYEAHVPEN AVGHEVQRLT VTDLDAPNSP
AWRATYLIMG GDDGDHFTIT THPESNQGIL TTRKGLDFEA KNQHTLYVEV TNEAPFVLKL
PTSTATIVVH VEDVNEAPVF VPPSKVVEVQ EGIPTGEPVC VYTAEDPDKE NQKISYRILR
DPAGWLAMDP DSGQVTAVGT LDREDEQFVR NNIYEVMVLA MDNGSPPTTG TGTLLLTLID
VNDHGPVPEP RQITICNQSP VRQVLNITDK DLSPHTSPFQ AQLTDDSDIY WTAEVNEEGD
TVVLSLKKFL KQDTYDVHLS LSDHGNKEQL TVIRATVCDC HGHVETCPGP WKGGFILPVL
GAVLALLFLL LVLLLLVRKK RKIKEPLLLP EDDTRDNVFY YGEEGGGEED QDYDITQLHR
GLEARPEVVL RNDVAPTIIP TPMYRPRPAN PDEIGNFIIE NLKAANTDPT APPYDTLLVF
DYEGSGSDAA SLSSLTSSAS DQDQDYDYLN EWGSRFKKLA DMYGGGEDD*

mutated AA sequence

MGLPRGPLAS LLLLQVCWLQ CAASEPCRAV FREAEVTLEA GGAEQEPGQA LGKVFMGCPG
QEPALFSTDN DDFTVRNGET VQERRSLKER NPLKIFPSKR ILRRHKRDWV VAPISVPENG
KGPFPQRLNQ LKSNKDRDTK IFYSITGPGA DSPPEGVFAV EKETGWLLLN KPLDREEIAK
YELFGHAVSE NGASVEDPMN ISIIVTDQND HKPKFTQDTF RGSVLEGVLP GTSVMQVTAT
DEDDAIYTYN GVVAYSIHSQ EPKDPHDLMF TIHRSTGTIS VISSGLDREK VPEYTLTIQA
TDMDGDGSTT TAVAVVEILD ANDNAPMFDP QKYEAHVPEN AVGHEVQRLT VTDLDAPNSP
AWRATYLIMG GDDGDHFTIT THPESNQGIL TTRKGLDFEA KNQHTLYVEV TNEAPFVLKL
PTSTATIVVH VEDVNEAPVF VPPSKVVEVQ EGIPTGEPVC VYTAEDPDKE NQKISYRILR
DPAGWLAMDP DSGQVTAVGT LDHEDEQFVR NNIYEVMVLA MDNGSPPTTG TGTLLLTLID
VNDHGPVPEP RQITICNQSP VRQVLNITDK DLSPHTSPFQ AQLTDDSDIY WTAEVNEEGD
TVVLSLKKFL KQDTYDVHLS LSDHGNKEQL TVIRATVCDC HGHVETCPGP WKGGFILPVL
GAVLALLFLL LVLLLLVRKK RKIKEPLLLP EDDTRDNVFY YGEEGGGEED QDYDITQLHR
GLEARPEVVL RNDVAPTIIP TPMYRPRPAN PDEIGNFIIE NLKAANTDPT APPYDTLLVF
DYEGSGSDAA SLSSLTSSAS DQDQDYDYLN EWGSRFKKLA DMYGGGEDD*

speed

0.35 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: 0.999991477788163 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM023041)
known disease mutation: rs17639 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:68719191G>AN/A show variant in all transcripts IGV

HGNC symbol

CDH3

Ensembl transcript ID

ENST00000429102

Genbank transcript ID

N/A

UniProt peptide

P22223

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1508G>A
cDNA.1895G>A
g.49100G>A

AA changes

R503H Score: 29 explain score(s)

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

503

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.533	0.995
	3.627	0.992
(flanking)	-2.057	0.057

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	49103	wt: 0.42 / mu: 0.59	wt: TGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGAGGA mu: TGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGAGGA	gtga\|GGAT
Donor marginally increased	49104	wt: 0.9747 / mu: 0.9885 (marginal change - not scored)	wt: CGTGAGGATGAGCAG mu: CATGAGGATGAGCAG	TGAG\|gatg
Donor gained	49101	0.30	mu: GACCATGAGGATGAG	CCAT\|gagg
Donor gained	49098	0.36	mu: CTCGACCATGAGGAT	CGAC\|catg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

503

mutated

not conserved

503

Ptroglodytes

all identical

ENSPTRG00000008269

503

Mmulatta

all identical

ENSMMUG00000010393

451

Fcatus

all identical

ENSFCAG00000001062

442

Mmusculus

all identical

ENSMUSG00000061048

495

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000002439

437

Drerio

all identical

ENSDARG00000024371

537

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000025992

551

protein features

start (aa)	end (aa)	feature	details
108	654	TOPO_DOM	Extracellular (Potential).	lost
441	546	DOMAIN	Cadherin 4.	lost
547	650	DOMAIN	Cadherin 5.	might get lost (downstream of altered splice site)
566	566	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
655	677	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
678	829	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
713	713	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
785	800	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2355 / 2355

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

785 / 785

position of stopcodon in wt / mu cDNA

2742 / 2742

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

388 / 388

chromosome

strand

last intron/exon boundary

2668

theoretical NMD boundary in CDS

2230

length of CDS

2355

coding sequence (CDS) position

1508

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

1895

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

49100

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

68719191

original gDNA sequence snippet

AGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGA

altered gDNA sequence snippet

AGCTGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGA

original cDNA sequence snippet

AGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGA

altered cDNA sequence snippet

AGCTGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGA

wildtype AA sequence

mutated AA sequence

MGLPRGPLAS LLLLQVCWLQ CAASEPCRAV FREAEVTLEA GGAEQEPGQA LGKVFMGCPG
QEPALFSTDN DDFTVRNGET VQERRSLKER NPLKIFPSKR ILRRHKRDWV VAPISVPENG
KGPFPQRLNQ LKSNKDRDTK IFYSITGPGA DSPPEGVFAV EKETGWLLLN KPLDREEIAK
YELFGHAVSE NGASVEDPMN ISIIVTDQND HKPKFTQDTF RGSVLEGVLP GTSVMQVTAT
DEDDAIYTYN GVVAYSIHSQ EPKDPHDLMF TIHRSTGTIS VISSGLDREK VPEYTLTIQA
TDMDGDGSTT TAVAVVEILD ANDNAPMFDP QKYEAHVPEN AVGHEVQRLT VTDLDAPNSP
AWRATYLIMG GDDGDHFTIT THPESNQGIL TTRKGLDFEA KNQHTLYVEV TNEAPFVLKL
PTSTATIVVH VEDVNEAPVF VPPSKVVEVQ EGIPTGEPVC VYTAEDPDKE NQKISYRILR
DPAGWLAMDP DSGQVTAVGT LDHEDEQFVR NNIYEVMVLA MDNGSPPTTG TGTLLLTLID
VNDHGPVPEP RQITICNQSP VRQVLNITDK DLSPHTSPFQ AQLTDDSDIY WTAEVNEEGD
TVVLSLKKFL KQDTYDVHLS LSDHGNKEQL TVIRATVCDC HGHVETCPGP WKGGFILPVL
GAVLALLFLL LVLLLLVRKK RKIKEPLLLP EDDTRDNVFY YGEEGGGEED QDYDITQLHR
GLEARPEVVL RNDVAPTIIP TPMYRPRPAN PDEIGNFIIE GRGERGSQRG NGGLQLARGR
TRRS*

speed

1.18 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999991477788163 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM023041)
known disease mutation: rs17639 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:68719191G>AN/A show variant in all transcripts IGV

HGNC symbol

CDH3

Ensembl transcript ID

ENST00000581171

Genbank transcript ID

N/A

UniProt peptide

P22223

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1343G>A
cDNA.1472G>A
g.49100G>A

AA changes

R448H Score: 29 explain score(s)

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

448

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.533	0.995
	3.627	0.992
(flanking)	-2.057	0.057

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	49103	wt: 0.42 / mu: 0.59	wt: TGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGAGGA mu: TGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGAGGA	gtga\|GGAT
Donor marginally increased	49104	wt: 0.9747 / mu: 0.9885 (marginal change - not scored)	wt: CGTGAGGATGAGCAG mu: CATGAGGATGAGCAG	TGAG\|gatg
Donor gained	49101	0.30	mu: GACCATGAGGATGAG	CCAT\|gagg
Donor gained	49098	0.36	mu: CTCGACCATGAGGAT	CGAC\|catg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

448

mutated

not conserved

448

Ptroglodytes

all identical

ENSPTRG00000008269

503

Mmulatta

all identical

ENSMMUG00000010393

451

Fcatus

all identical

ENSFCAG00000001062

442

Mmusculus

all identical

ENSMUSG00000061048

495

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000002439

437

Drerio

all identical

ENSDARG00000024371

536

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000025992

552

protein features

start (aa)	end (aa)	feature	details
108	654	TOPO_DOM	Extracellular (Potential).	lost
441	546	DOMAIN	Cadherin 4.	lost
547	650	DOMAIN	Cadherin 5.	might get lost (downstream of altered splice site)
566	566	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
655	677	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
678	829	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
713	713	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
785	800	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2325 / 2325

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

775 / 775

position of stopcodon in wt / mu cDNA

2454 / 2454

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

130 / 130

chromosome

strand

last intron/exon boundary

2245

theoretical NMD boundary in CDS

2065

length of CDS

2325

coding sequence (CDS) position

1343

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

1472

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

49100

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

68719191

original gDNA sequence snippet

AGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGA

altered gDNA sequence snippet

AGCTGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGA

original cDNA sequence snippet

AGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGA

altered cDNA sequence snippet

AGCTGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGA

wildtype AA sequence

MGCPGQEPAL FSTDNDDFTV RNGETVQERR SLKERNPLKI FPSKRILRRH KRDWVVAPIS
VPENGKGPFP QRLNQLKSNK DRDTKIFYSI TGPGADSPPE GVFAVEKETG WLLLNKPLDR
EEIAKYELFG HAVSENGASV EDPMNISIIV TDQNDHKPKF TQDTFRGSVL EGVLPGTSVM
QVTATDEDDA IYTYNGVVAY SIHSQEPKDP HDLMFTIHRS TGTISVISSG LDREKVPEYT
LTIQATDMDG DGSTTTAVAV VEILDANDNA PMFDPQKYEA HVPENAVGHE VQRLTVTDLD
APNSPAWRAT YLIMGGDDGD HFTITTHPES NQGILTTRKG LDFEAKNQHT LYVEVTNEAP
FVLKLPTSTA TIVVHVEDVN EAPVFVPPSK VVEVQEGIPT GEPVCVYTAE DPDKENQKIS
YRILRDPAGW LAMDPDSGQV TAVGTLDRED EQFVRNNIYE VMVLAMDNGS PPTTGTGTLL
LTLIDVNDHG PVPEPRQITI CNQSPVRQVL NITDKDLSPH TSPFQAQLTD DSDIYWTAEV
NEEGDTVVLS LKKFLKQDTY DVHLSLSDHG NKEQLTVIRA TVCDCHGHVE TCPGPWKGGF
ILPVLGAVLA LLFLLLVLLL LVRKKRKIKE PLLLPEDDTR DNVFYYGEEG GGEEDQDYDI
TQLHRGLEAR PEVVLRNDVA PTIIPTPMYR PRPANPDEIG NFIIENLKAA NTDPTAPPYD
TLLVFDYEGS GSDAASLSSL TSSASDQDQD YDYLNEWGSR FKKLADMYGG GEDD*

mutated AA sequence

MGCPGQEPAL FSTDNDDFTV RNGETVQERR SLKERNPLKI FPSKRILRRH KRDWVVAPIS
VPENGKGPFP QRLNQLKSNK DRDTKIFYSI TGPGADSPPE GVFAVEKETG WLLLNKPLDR
EEIAKYELFG HAVSENGASV EDPMNISIIV TDQNDHKPKF TQDTFRGSVL EGVLPGTSVM
QVTATDEDDA IYTYNGVVAY SIHSQEPKDP HDLMFTIHRS TGTISVISSG LDREKVPEYT
LTIQATDMDG DGSTTTAVAV VEILDANDNA PMFDPQKYEA HVPENAVGHE VQRLTVTDLD
APNSPAWRAT YLIMGGDDGD HFTITTHPES NQGILTTRKG LDFEAKNQHT LYVEVTNEAP
FVLKLPTSTA TIVVHVEDVN EAPVFVPPSK VVEVQEGIPT GEPVCVYTAE DPDKENQKIS
YRILRDPAGW LAMDPDSGQV TAVGTLDHED EQFVRNNIYE VMVLAMDNGS PPTTGTGTLL
LTLIDVNDHG PVPEPRQITI CNQSPVRQVL NITDKDLSPH TSPFQAQLTD DSDIYWTAEV
NEEGDTVVLS LKKFLKQDTY DVHLSLSDHG NKEQLTVIRA TVCDCHGHVE TCPGPWKGGF
ILPVLGAVLA LLFLLLVLLL LVRKKRKIKE PLLLPEDDTR DNVFYYGEEG GGEEDQDYDI
TQLHRGLEAR PEVVLRNDVA PTIIPTPMYR PRPANPDEIG NFIIENLKAA NTDPTAPPYD
TLLVFDYEGS GSDAASLSSL TSSASDQDQD YDYLNEWGSR FKKLADMYGG GEDD*

speed

1.08 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

Problems