MutationTaster - study a chromosomal position

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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 0.67 s - this script 2.698654 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ABCC8	disease_causing_automatic	0.999999998285589	simple_aae		affected	0	R1420C	single base exchange	rs28938469		show file
ABCC8	disease_causing_automatic	0.999999998285589	simple_aae		affected	0	R1421C	single base exchange	rs28938469		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999998285589 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM981886)
known disease mutation: rs9095 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:17417206G>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.4258C>T
cDNA.4327C>T
g.81244C>T

AA changes

R1420C Score: 180 explain score(s)

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

1420

frameshift

known variant

Reference ID: rs28938469
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs9095 (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 CM981886)

known disease mutation at this position, please check HGMD for details (HGMD ID CM981886)
known disease mutation at this position, please check HGMD for details (HGMD ID CM981886)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.739	1
	3.846	0.998
(flanking)	-2.326	0.012

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	81246	wt: 0.55 / mu: 0.64	wt: CTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAGGA mu: CTGCACACCCTGCGCTCATGCCTCTCCATCATCCTGCAGGA	acgc\|CTCT
Acc increased	81254	wt: 0.40 / mu: 0.54	wt: CCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTCC mu: CCTGCGCTCATGCCTCTCCATCATCCTGCAGGACCCCGTCC	ccat\|CATC
Acc marginally increased	81253	wt: 0.9055 / mu: 0.9474 (marginal change - not scored)	wt: CCCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTC mu: CCCTGCGCTCATGCCTCTCCATCATCCTGCAGGACCCCGTC	tcca\|TCAT
Acc increased	81252	wt: 0.63 / mu: 0.77	wt: ACCCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGT mu: ACCCTGCGCTCATGCCTCTCCATCATCCTGCAGGACCCCGT	ctcc\|ATCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1420

mutated

not conserved

1420

Ptroglodytes

all identical

ENSPTRG00000003403

1371

Mmulatta

all identical

ENSMMUG00000023581

1421

Fcatus

all identical

ENSFCAG00000004967

1370

Mmusculus

all identical

ENSMUSG00000040136

1427

Ggallus

all identical

ENSGALG00000006172

1419

Trubripes

all identical

ENSTRUG00000005978

1421

Drerio

all conserved

ENSDARG00000077007

546

Dmelanogaster

no homologue

Celegans

not conserved

F14F4.3

1193

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

4258

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

4327

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

81244

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

17417206

original gDNA sequence snippet

CGCTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAG

altered gDNA sequence snippet

CGCTGCACACCCTGCGCTCATGCCTCTCCATCATCCTGCAG

original cDNA sequence snippet

CGCTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAG

altered cDNA sequence snippet

CGCTGCACACCCTGCGCTCATGCCTCTCCATCATCCTGCAG

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 KLPLHTLRSC LSIILQDPVL FSGTIRFNLD
PERKCSDSTL WEALEIAQLK LVVKALPGGL DAIITEGGEN FSQGQRQLFC LARAFVRKTS
IFIMDEATAS IDMATENILQ KVVMTAFADR TVVTIAHRVH TILSADLVIV LKRGAILEFD
KPEKLLSRKD SVFASFVRAD K*

speed

0.31 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: 0.999999998285589 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM981886)
known disease mutation: rs9095 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:17417206G>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.4261C>T
cDNA.4387C>T
g.81244C>T

AA changes

R1421C Score: 180 explain score(s)

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

1421

frameshift

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.739	1
	3.846	0.998
(flanking)	-2.326	0.012

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	81246	wt: 0.55 / mu: 0.64	wt: CTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAGGA mu: CTGCACACCCTGCGCTCATGCCTCTCCATCATCCTGCAGGA	acgc\|CTCT
Acc increased	81254	wt: 0.40 / mu: 0.54	wt: CCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTCC mu: CCTGCGCTCATGCCTCTCCATCATCCTGCAGGACCCCGTCC	ccat\|CATC
Acc marginally increased	81253	wt: 0.9055 / mu: 0.9474 (marginal change - not scored)	wt: CCCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTC mu: CCCTGCGCTCATGCCTCTCCATCATCCTGCAGGACCCCGTC	tcca\|TCAT
Acc increased	81252	wt: 0.63 / mu: 0.77	wt: ACCCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGT mu: ACCCTGCGCTCATGCCTCTCCATCATCCTGCAGGACCCCGT	ctcc\|ATCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1421

mutated

not conserved

1421

Ptroglodytes

all identical

ENSPTRG00000003403

1371

Mmulatta

all identical

ENSMMUG00000023581

1421

Fcatus

all identical

ENSFCAG00000004967

1370

Mmusculus

all identical

ENSMUSG00000040136

1427

Ggallus

all identical

ENSGALG00000006172

1419

Trubripes

all identical

ENSTRUG00000005978

1421

Drerio

all conserved

ENSDARG00000077007

546

Dmelanogaster

no homologue

Celegans

not conserved

F14F4.3

1193

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

4261

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

4387

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

81244

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

17417206

original gDNA sequence snippet

CGCTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAG

altered gDNA sequence snippet

CGCTGCACACCCTGCGCTCATGCCTCTCCATCATCCTGCAG

original cDNA sequence snippet

CGCTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAG

altered cDNA sequence snippet

CGCTGCACACCCTGCGCTCATGCCTCTCCATCATCCTGCAG

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 CLSIILQDPV LFSGTIRFNL
DPERKCSDST LWEALEIAQL KLVVKALPGG LDAIITEGGE NFSQGQRQLF CLARAFVRKT
SIFIMDEATA SIDMATENIL QKVVMTAFAD RTVVTIAHRV HTILSADLVI VLKRGAILEF
DKPEKLLSRK DSVFASFVRA DK*

speed

0.36 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems