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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000389817
Querying Taster for transcript #2: ENST00000302539
MT speed 1.81 s - this script 3.852341 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ABCC8	disease_causing_automatic	0.999989874206181	simple_aae		affected	0	R1493W	single base exchange	rs28936371		show file
ABCC8	disease_causing_automatic	0.999989874206181	simple_aae		affected	0	R1494W	single base exchange	rs28936371		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999989874206181 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM981887)
known disease mutation: rs9096 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:17415881G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCC8

Ensembl transcript ID

ENST00000389817

Genbank transcript ID

NM_000352

UniProt peptide

Q09428

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4477C>T
cDNA.4546C>T
g.82569C>T

AA changes

R1493W Score: 101 explain score(s)

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

1493

frameshift

known variant

Reference ID: rs28936371

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	3	3

known disease mutation: rs9096 (pathogenic for Hyperinsulinemic hypoglycemia, familial, 1|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM981887)

known disease mutation at this position, please check HGMD for details (HGMD ID CM981887)
known disease mutation at this position, please check HGMD for details (HGMD ID CM981887)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.809	1
	0.845	0.67
(flanking)	-2.661	0.009

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	82571	wt: 0.52 / mu: 0.59	wt: CAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACCAG mu: CAGCTGTTCTGCCTGGCCTGGGCCTTCGTGAGGAAGACCAG	ccgg\|GCCT
Acc marginally increased	82569	wt: 0.8203 / mu: 0.8227 (marginal change - not scored)	wt: GGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACC mu: GGCAGCTGTTCTGCCTGGCCTGGGCCTTCGTGAGGAAGACC	gccc\|GGGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1493

mutated

not conserved

1493

Ptroglodytes

all identical

ENSPTRG00000003403

1444

Mmulatta

all identical

ENSMMUG00000023581

1494

Fcatus

all identical

ENSFCAG00000004967

1443

Mmusculus

all identical

ENSMUSG00000040136

1500

Ggallus

all identical

ENSGALG00000006172

1492

Trubripes

all identical

ENSTRUG00000005978

1494

Drerio

no alignment

ENSDARG00000077007

n/a

Dmelanogaster

no homologue

Celegans

all identical

F14F4.3

1266

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1298	1581	TOPO_DOM	Cytoplasmic (By similarity).	lost
1344	1578	DOMAIN	ABC transporter 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4746 / 4746

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

1582 / 1582

position of stopcodon in wt / mu cDNA

4815 / 4815

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

70 / 70

chromosome

strand

-1

last intron/exon boundary

4678

theoretical NMD boundary in CDS

4558

length of CDS

4746

coding sequence (CDS) position

4477

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

4546

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

82569

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

17415881

original gDNA sequence snippet

GGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACC

altered gDNA sequence snippet

GGCAGCTGTTCTGCCTGGCCTGGGCCTTCGTGAGGAAGACC

original cDNA sequence snippet

GGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACC

altered cDNA sequence snippet

GGCAGCTGTTCTGCCTGGCCTGGGCCTTCGTGAGGAAGACC

wildtype AA sequence

MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG
MLLLVEVNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS
SLLLAALGEM QKVSGAVFWS SLPDSEIGED PSPERETATD LDIRKRGPVA YASQKPWLLN
ATVEENIIFE SPFNKQRYKM VIEACSLQPD IDILPHGDQT QIGERGINLS GGQRQRISVA
RALYQHANVV FLDDPFSALD IHLSDHLMQA GILELLRDDK RTVVLVTHKL QYLPHADWII
AMKDGTIQRE GTLKDFQRSE CQLFEHWKTL MNRQDQELEK ETVTERKATE PPQGLSRAMS
SRDGLLQDEE EEEEEAAESE EDDNLSSMLH QRAEIPWRAC AKYLSSAGIL LLSLLVFSQL
LKHMVLVAID YWLAKWTDSA LTLTPAARNC SLSQECTLDQ TVYAMVFTVL CSLGIVLCLV
TSVTVEWTGL KVAKRLHRSL LNRIILAPMR FFETTPLGSI LNRFSSDCNT IDQHIPSTLE
CLSRSTLLCV SALAVISYVT PVFLVALLPL AIVCYFIQKY FRVASRDLQQ LDDTTQLPLL
SHFAETVEGL TTIRAFRYEA RFQQKLLEYT DSNNIASLFL TAANRWLEVR MEYIGACVVL
IAAVTSISNS LHRELSAGLV GLGLTYALMV SNYLNWMVRN LADMELQLGA VKRIHGLLKT
EAESYEGLLA PSLIPKNWPD QGKIQIQNLS VRYDSSLKPV LKHVNALIAP GQKIGICGRT
GSGKSSFSLA FFRMVDTFEG HIIIDGIDIA KLPLHTLRSR LSIILQDPVL FSGTIRFNLD
PERKCSDSTL WEALEIAQLK LVVKALPGGL DAIITEGGEN FSQGQRQLFC LARAFVRKTS
IFIMDEATAS IDMATENILQ KVVMTAFADR TVVTIAHRVH TILSADLVIV LKRGAILEFD
KPEKLLSRKD SVFASFVRAD K*

mutated AA sequence

MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG
MLLLVEVNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS
SLLLAALGEM QKVSGAVFWS SLPDSEIGED PSPERETATD LDIRKRGPVA YASQKPWLLN
ATVEENIIFE SPFNKQRYKM VIEACSLQPD IDILPHGDQT QIGERGINLS GGQRQRISVA
RALYQHANVV FLDDPFSALD IHLSDHLMQA GILELLRDDK RTVVLVTHKL QYLPHADWII
AMKDGTIQRE GTLKDFQRSE CQLFEHWKTL MNRQDQELEK ETVTERKATE PPQGLSRAMS
SRDGLLQDEE EEEEEAAESE EDDNLSSMLH QRAEIPWRAC AKYLSSAGIL LLSLLVFSQL
LKHMVLVAID YWLAKWTDSA LTLTPAARNC SLSQECTLDQ TVYAMVFTVL CSLGIVLCLV
TSVTVEWTGL KVAKRLHRSL LNRIILAPMR FFETTPLGSI LNRFSSDCNT IDQHIPSTLE
CLSRSTLLCV SALAVISYVT PVFLVALLPL AIVCYFIQKY FRVASRDLQQ LDDTTQLPLL
SHFAETVEGL TTIRAFRYEA RFQQKLLEYT DSNNIASLFL TAANRWLEVR MEYIGACVVL
IAAVTSISNS LHRELSAGLV GLGLTYALMV SNYLNWMVRN LADMELQLGA VKRIHGLLKT
EAESYEGLLA PSLIPKNWPD QGKIQIQNLS VRYDSSLKPV LKHVNALIAP GQKIGICGRT
GSGKSSFSLA FFRMVDTFEG HIIIDGIDIA KLPLHTLRSR LSIILQDPVL FSGTIRFNLD
PERKCSDSTL WEALEIAQLK LVVKALPGGL DAIITEGGEN FSQGQRQLFC LAWAFVRKTS
IFIMDEATAS IDMATENILQ KVVMTAFADR TVVTIAHRVH TILSADLVIV LKRGAILEFD
KPEKLLSRKD SVFASFVRAD K*

speed

0.86 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: 0.999989874206181 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM981887)
known disease mutation: rs9096 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:17415881G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCC8

Ensembl transcript ID

ENST00000302539

Genbank transcript ID

N/A

UniProt peptide

Q09428

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4480C>T
cDNA.4606C>T
g.82569C>T

AA changes

R1494W Score: 101 explain score(s)

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

1494

frameshift

known variant

Reference ID: rs28936371

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	3	3

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.809	1
	0.845	0.67
(flanking)	-2.661	0.009

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	82571	wt: 0.52 / mu: 0.59	wt: CAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACCAG mu: CAGCTGTTCTGCCTGGCCTGGGCCTTCGTGAGGAAGACCAG	ccgg\|GCCT
Acc marginally increased	82569	wt: 0.8203 / mu: 0.8227 (marginal change - not scored)	wt: GGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACC mu: GGCAGCTGTTCTGCCTGGCCTGGGCCTTCGTGAGGAAGACC	gccc\|GGGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1494

mutated

not conserved

1494

Ptroglodytes

all identical

ENSPTRG00000003403

1444

Mmulatta

all identical

ENSMMUG00000023581

1494

Fcatus

all identical

ENSFCAG00000004967

1443

Mmusculus

all identical

ENSMUSG00000040136

1500

Ggallus

all identical

ENSGALG00000006172

1492

Trubripes

all identical

ENSTRUG00000005978

1494

Drerio

no alignment

ENSDARG00000077007

n/a

Dmelanogaster

no homologue

Celegans

all identical

F14F4.3

1266

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1298	1581	TOPO_DOM	Cytoplasmic (By similarity).	lost
1344	1578	DOMAIN	ABC transporter 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4749 / 4749

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

1583 / 1583

position of stopcodon in wt / mu cDNA

4875 / 4875

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

127 / 127

chromosome

strand

-1

last intron/exon boundary

4738

theoretical NMD boundary in CDS

4561

length of CDS

4749

coding sequence (CDS) position

4480

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

4606

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

82569

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

17415881

original gDNA sequence snippet

GGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACC

altered gDNA sequence snippet

GGCAGCTGTTCTGCCTGGCCTGGGCCTTCGTGAGGAAGACC

original cDNA sequence snippet

GGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACC

altered cDNA sequence snippet

GGCAGCTGTTCTGCCTGGCCTGGGCCTTCGTGAGGAAGACC

wildtype AA sequence

MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG
MLLLVEVNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS
SLLLAALGEM QKVSGAVFWS SSLPDSEIGE DPSPERETAT DLDIRKRGPV AYASQKPWLL
NATVEENIIF ESPFNKQRYK MVIEACSLQP DIDILPHGDQ TQIGERGINL SGGQRQRISV
ARALYQHANV VFLDDPFSAL DIHLSDHLMQ AGILELLRDD KRTVVLVTHK LQYLPHADWI
IAMKDGTIQR EGTLKDFQRS ECQLFEHWKT LMNRQDQELE KETVTERKAT EPPQGLSRAM
SSRDGLLQDE EEEEEEAAES EEDDNLSSML HQRAEIPWRA CAKYLSSAGI LLLSLLVFSQ
LLKHMVLVAI DYWLAKWTDS ALTLTPAARN CSLSQECTLD QTVYAMVFTV LCSLGIVLCL
VTSVTVEWTG LKVAKRLHRS LLNRIILAPM RFFETTPLGS ILNRFSSDCN TIDQHIPSTL
ECLSRSTLLC VSALAVISYV TPVFLVALLP LAIVCYFIQK YFRVASRDLQ QLDDTTQLPL
LSHFAETVEG LTTIRAFRYE ARFQQKLLEY TDSNNIASLF LTAANRWLEV RMEYIGACVV
LIAAVTSISN SLHRELSAGL VGLGLTYALM VSNYLNWMVR NLADMELQLG AVKRIHGLLK
TEAESYEGLL APSLIPKNWP DQGKIQIQNL SVRYDSSLKP VLKHVNALIA PGQKIGICGR
TGSGKSSFSL AFFRMVDTFE GHIIIDGIDI AKLPLHTLRS RLSIILQDPV LFSGTIRFNL
DPERKCSDST LWEALEIAQL KLVVKALPGG LDAIITEGGE NFSQGQRQLF CLARAFVRKT
SIFIMDEATA SIDMATENIL QKVVMTAFAD RTVVTIAHRV HTILSADLVI VLKRGAILEF
DKPEKLLSRK DSVFASFVRA DK*

mutated AA sequence

MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG
MLLLVEVNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS
SLLLAALGEM QKVSGAVFWS SSLPDSEIGE DPSPERETAT DLDIRKRGPV AYASQKPWLL
NATVEENIIF ESPFNKQRYK MVIEACSLQP DIDILPHGDQ TQIGERGINL SGGQRQRISV
ARALYQHANV VFLDDPFSAL DIHLSDHLMQ AGILELLRDD KRTVVLVTHK LQYLPHADWI
IAMKDGTIQR EGTLKDFQRS ECQLFEHWKT LMNRQDQELE KETVTERKAT EPPQGLSRAM
SSRDGLLQDE EEEEEEAAES EEDDNLSSML HQRAEIPWRA CAKYLSSAGI LLLSLLVFSQ
LLKHMVLVAI DYWLAKWTDS ALTLTPAARN CSLSQECTLD QTVYAMVFTV LCSLGIVLCL
VTSVTVEWTG LKVAKRLHRS LLNRIILAPM RFFETTPLGS ILNRFSSDCN TIDQHIPSTL
ECLSRSTLLC VSALAVISYV TPVFLVALLP LAIVCYFIQK YFRVASRDLQ QLDDTTQLPL
LSHFAETVEG LTTIRAFRYE ARFQQKLLEY TDSNNIASLF LTAANRWLEV RMEYIGACVV
LIAAVTSISN SLHRELSAGL VGLGLTYALM VSNYLNWMVR NLADMELQLG AVKRIHGLLK
TEAESYEGLL APSLIPKNWP DQGKIQIQNL SVRYDSSLKP VLKHVNALIA PGQKIGICGR
TGSGKSSFSL AFFRMVDTFE GHIIIDGIDI AKLPLHTLRS RLSIILQDPV LFSGTIRFNL
DPERKCSDST LWEALEIAQL KLVVKALPGG LDAIITEGGE NFSQGQRQLF CLAWAFVRKT
SIFIMDEATA SIDMATENIL QKVVMTAFAD RTVVTIAHRV HTILSADLVI VLKRGAILEF
DKPEKLLSRK DSVFASFVRA DK*

speed

0.95 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems