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 0 s - this script 4.417053 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ABCC8	disease_causing_automatic	0.999969711087053	simple_aae		affected	0	L582V	single base exchange	rs137852674		show file
ABCC8	disease_causing_automatic	0.999969711087053	simple_aae		affected	0	L582V	single base exchange	rs137852674		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999969711087053 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM067627)
known disease mutation: rs9106 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:17452434G>CN/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.1744C>G
cDNA.1813C>G
g.46016C>G

AA changes

L582V Score: 32 explain score(s)

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

582

frameshift

known variant

Reference ID: rs137852674
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs9106 (pathogenic for Type 2 diabetes mellitus|Transient neonatal diabetes mellitus 2) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM067627)

known disease mutation at this position, please check HGMD for details (HGMD ID CM067627)
known disease mutation at this position, please check HGMD for details (HGMD ID CM067627)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.785	1
	3.123	1
(flanking)	0.116	0.996

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 marginally increased	46014	wt: 0.7994 / mu: 0.8165 (marginal change - not scored)	wt: CGTGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCA mu: CGTGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCA	tctc\|CCTC
Acc increased	46012	wt: 0.58 / mu: 0.68	wt: TCCGTGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGT mu: TCCGTGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGT	cctc\|TCCC
Acc marginally increased	46019	wt: 0.9838 / mu: 0.9844 (marginal change - not scored)	wt: CCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCACACCG mu: CCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCACACCG	ctct\|TCCA
Acc increased	46015	wt: 0.65 / mu: 0.94	wt: GTGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCAC mu: GTGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCAC	ctcc\|CTCT
Acc marginally increased	46009	wt: 0.3518 / mu: 0.3713 (marginal change - not scored)	wt: CCCTCCGTGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTT mu: CCCTCCGTGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTT	ctcc\|CTCT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

582

mutated

all conserved

582

Ptroglodytes

all identical

ENSPTRG00000003403

533

Mmulatta

all identical

ENSMMUG00000023581

581

Fcatus

all identical

ENSFCAG00000004967

532

Mmusculus

all identical

ENSMUSG00000040136

582

Ggallus

all identical

ENSGALG00000006172

582

Trubripes

all identical

ENSTRUG00000005978

582

Drerio

no alignment

ENSDARG00000077007

n/a

Dmelanogaster

no homologue

Celegans

all conserved

F14F4.3

412

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
299	602	DOMAIN	ABC transmembrane type-1 1.	lost
563	584	TOPO_DOM	Extracellular (By similarity).	lost
585	605	TRANSMEM	Helical; Name=11; (By similarity).	might get lost (downstream of altered splice site)
606	1004	TOPO_DOM	Cytoplasmic (By similarity).	might get lost (downstream of altered splice site)
679	929	DOMAIN	ABC transporter 1.	might get lost (downstream of altered splice site)
713	720	NP_BIND	ATP 1 (Potential).	might get lost (downstream of altered splice site)
1005	1025	TRANSMEM	Helical; Name=12; (By similarity).	might get lost (downstream of altered splice site)
1012	1306	DOMAIN	ABC transmembrane type-1 2.	might get lost (downstream of altered splice site)
1026	1072	TOPO_DOM	Extracellular (By similarity).	might get lost (downstream of altered splice site)
1049	1049	CARBOHYD	N-linked (GlcNAc...) (By similarity).	might get lost (downstream of altered splice site)
1069	1070	CONFLICT	VL -> AV (in Ref. 2; AAB02278/AAB02417/ AAB02418).	might get lost (downstream of altered splice site)
1073	1093	TRANSMEM	Helical; Name=13; (By similarity).	might get lost (downstream of altered splice site)
1094	1137	TOPO_DOM	Cytoplasmic (By similarity).	might get lost (downstream of altered splice site)
1138	1158	TRANSMEM	Helical; Name=14; (By similarity).	might get lost (downstream of altered splice site)
1159	1159	TOPO_DOM	Extracellular (By similarity).	might get lost (downstream of altered splice site)
1160	1180	TRANSMEM	Helical; Name=15; (By similarity).	might get lost (downstream of altered splice site)
1172	1172	CONFLICT	I -> V (in Ref. 3; AAB36699/AAB36700).	might get lost (downstream of altered splice site)
1181	1251	TOPO_DOM	Cytoplasmic (By similarity).	might get lost (downstream of altered splice site)
1252	1272	TRANSMEM	Helical; Name=16; (By similarity).	might get lost (downstream of altered splice site)
1273	1276	TOPO_DOM	Extracellular (By similarity).	might get lost (downstream of altered splice site)
1277	1297	TRANSMEM	Helical; Name=17; (By similarity).	might get lost (downstream of altered splice site)
1298	1581	TOPO_DOM	Cytoplasmic (By similarity).	might get lost (downstream of altered splice site)
1344	1578	DOMAIN	ABC transporter 2.	might get lost (downstream of altered splice site)
1378	1385	NP_BIND	ATP 2 (Potential).	might get lost (downstream of altered splice site)
1410	1410	CONFLICT	A -> R (in Ref. 3; AAB36699/AAB36700).	might get lost (downstream of altered splice site)
1418	1418	CONFLICT	R -> P (in Ref. 3; AAB36699/AAB36700).	might get lost (downstream of altered splice site)

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

1744

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

1813

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

46016

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

17452434

original gDNA sequence snippet

TGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCACA

altered gDNA sequence snippet

TGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCACA

original cDNA sequence snippet

TGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCACA

altered cDNA sequence snippet

TGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCACA

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 SVFHILVTPL 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*

speed

1.19 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: 0.999969711087053 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM067627)
known disease mutation: rs9106 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:17452434G>CN/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.1744C>G
cDNA.1870C>G
g.46016C>G

AA changes

L582V Score: 32 explain score(s)

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

582

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)	4.785	1
	3.123	1
(flanking)	0.116	0.996

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 marginally increased	46014	wt: 0.7994 / mu: 0.8165 (marginal change - not scored)	wt: CGTGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCA mu: CGTGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCA	tctc\|CCTC
Acc increased	46012	wt: 0.58 / mu: 0.68	wt: TCCGTGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGT mu: TCCGTGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGT	cctc\|TCCC
Acc marginally increased	46019	wt: 0.9838 / mu: 0.9844 (marginal change - not scored)	wt: CCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCACACCG mu: CCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCACACCG	ctct\|TCCA
Acc increased	46015	wt: 0.65 / mu: 0.94	wt: GTGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCAC mu: GTGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCAC	ctcc\|CTCT
Acc marginally increased	46009	wt: 0.3518 / mu: 0.3713 (marginal change - not scored)	wt: CCCTCCGTGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTT mu: CCCTCCGTGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTT	ctcc\|CTCT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

582

mutated

all conserved

582

Ptroglodytes

all identical

ENSPTRG00000003403

533

Mmulatta

all identical

ENSMMUG00000023581

581

Fcatus

all identical

ENSFCAG00000004967

532

Mmusculus

all identical

ENSMUSG00000040136

582

Ggallus

all identical

ENSGALG00000006172

582

Trubripes

all identical

ENSTRUG00000005978

582

Drerio

no alignment

ENSDARG00000077007

n/a

Dmelanogaster

no homologue

Celegans

all conserved

F14F4.3

412

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
299	602	DOMAIN	ABC transmembrane type-1 1.	lost
563	584	TOPO_DOM	Extracellular (By similarity).	lost
585	605	TRANSMEM	Helical; Name=11; (By similarity).	might get lost (downstream of altered splice site)
606	1004	TOPO_DOM	Cytoplasmic (By similarity).	might get lost (downstream of altered splice site)
679	929	DOMAIN	ABC transporter 1.	might get lost (downstream of altered splice site)
713	720	NP_BIND	ATP 1 (Potential).	might get lost (downstream of altered splice site)
1005	1025	TRANSMEM	Helical; Name=12; (By similarity).	might get lost (downstream of altered splice site)
1012	1306	DOMAIN	ABC transmembrane type-1 2.	might get lost (downstream of altered splice site)
1026	1072	TOPO_DOM	Extracellular (By similarity).	might get lost (downstream of altered splice site)
1049	1049	CARBOHYD	N-linked (GlcNAc...) (By similarity).	might get lost (downstream of altered splice site)
1069	1070	CONFLICT	VL -> AV (in Ref. 2; AAB02278/AAB02417/ AAB02418).	might get lost (downstream of altered splice site)
1073	1093	TRANSMEM	Helical; Name=13; (By similarity).	might get lost (downstream of altered splice site)
1094	1137	TOPO_DOM	Cytoplasmic (By similarity).	might get lost (downstream of altered splice site)
1138	1158	TRANSMEM	Helical; Name=14; (By similarity).	might get lost (downstream of altered splice site)
1159	1159	TOPO_DOM	Extracellular (By similarity).	might get lost (downstream of altered splice site)
1160	1180	TRANSMEM	Helical; Name=15; (By similarity).	might get lost (downstream of altered splice site)
1172	1172	CONFLICT	I -> V (in Ref. 3; AAB36699/AAB36700).	might get lost (downstream of altered splice site)
1181	1251	TOPO_DOM	Cytoplasmic (By similarity).	might get lost (downstream of altered splice site)
1252	1272	TRANSMEM	Helical; Name=16; (By similarity).	might get lost (downstream of altered splice site)
1273	1276	TOPO_DOM	Extracellular (By similarity).	might get lost (downstream of altered splice site)
1277	1297	TRANSMEM	Helical; Name=17; (By similarity).	might get lost (downstream of altered splice site)
1298	1581	TOPO_DOM	Cytoplasmic (By similarity).	might get lost (downstream of altered splice site)
1344	1578	DOMAIN	ABC transporter 2.	might get lost (downstream of altered splice site)
1378	1385	NP_BIND	ATP 2 (Potential).	might get lost (downstream of altered splice site)
1410	1410	CONFLICT	A -> R (in Ref. 3; AAB36699/AAB36700).	might get lost (downstream of altered splice site)
1418	1418	CONFLICT	R -> P (in Ref. 3; AAB36699/AAB36700).	might get lost (downstream of altered splice site)

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

1744

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

1870

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

46016

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

17452434

original gDNA sequence snippet

TGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCACA

altered gDNA sequence snippet

TGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCACA

original cDNA sequence snippet

TGGCCTTTGCCTCCCTCTCCCTCTTCCATATCTTGGTCACA

altered cDNA sequence snippet

TGGCCTTTGCCTCCCTCTCCGTCTTCCATATCTTGGTCACA

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 SVFHILVTPL 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*

speed

1.18 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems