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: ENST00000345988
Querying Taster for transcript #2: ENST00000590782
MT speed 0 s - this script 2.901082 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PPL	polymorphism_automatic	0.999998439174039	simple_aae		affected		Q1573E	single base exchange	rs2037912		show file
PPL	polymorphism_automatic	0.999998439174039	simple_aae		affected		Q1571E	single base exchange	rs2037912		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.56082596073324e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:4933939G>CN/A show variant in all transcripts IGV

HGNC symbol

PPL

Ensembl transcript ID

ENST00000345988

Genbank transcript ID

NM_002705

UniProt peptide

O60437

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4717C>G
cDNA.4807C>G
g.76804C>G

AA changes

Q1573E Score: 29 explain score(s)

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

1573

frameshift

known variant

Reference ID: rs2037912

database	homozygous (C/C)	heterozygous	allele carriers
1000G	541	935	1476
ExAC	16689	-611	16078

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.484	0.997
	6.253	1
(flanking)	0.693	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
Donor marginally increased	76801	wt: 0.8754 / mu: 0.9029 (marginal change - not scored)	wt: TGGAGAGGCAAAACC mu: TGGAGAGGGAAAACC	GAGA\|ggca
Donor gained	76803	0.46	mu: GAGAGGGAAAACCTG	GAGG\|gaaa

distance from splice site

1432

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1573

mutated

all conserved

1573

Ptroglodytes

all identical

ENSPTRG00000007732

1461

Mmulatta

all identical

ENSMMUG00000017822

1578

Fcatus

all identical

ENSFCAG00000004571

1468

Mmusculus

all identical

ENSMUSG00000039457

1571

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012163

311

Drerio

all identical

ENSDARG00000037898

1570

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000009137

1560

protein features

start (aa)	end (aa)	feature	details
886	1645	COILED	Potential.	lost
1579	1579	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1651	1685	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
1657	1657	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1663	1663	CONFLICT	P -> L (in Ref. 1; AAC17738).	might get lost (downstream of altered splice site)
1700	1735	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5271 / 5271

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

1757 / 1757

position of stopcodon in wt / mu cDNA

5361 / 5361

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

91 / 91

chromosome

strand

-1

last intron/exon boundary

2698

theoretical NMD boundary in CDS

2557

length of CDS

5271

coding sequence (CDS) position

4717

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

4807

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

76804

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

4933939

original gDNA sequence snippet

ACAAATTACAGCTGGAGAGGCAAAACCTGCAGCTGGAGACC

altered gDNA sequence snippet

ACAAATTACAGCTGGAGAGGGAAAACCTGCAGCTGGAGACC

original cDNA sequence snippet

ACAAATTACAGCTGGAGAGGCAAAACCTGCAGCTGGAGACC

altered cDNA sequence snippet

ACAAATTACAGCTGGAGAGGGAAAACCTGCAGCTGGAGACC

wildtype AA sequence

MNSLFRKRNK GKYSPTVQTR SISNKELSEL IEQLQKNADQ VEKNIVDTEA KMQSDLARLQ
EGRQPEHRDV TLQKVLDSEK LLYVLEADAA IAKHMKHPQG DMIAEDIRQL KERVTNLRGK
HKQIYRLAVK EVDPQVNWAA LVEEKLDKLN NQSFGTDLPL VDHQVEEHNI FHNEVKAIGP
HLAKDGDKEQ NSELRAKYQK LLAASQARQQ HLSSLQDYMQ RCTNELYWLD QQAKGRMQYD
WSDRNLDYPS RRRQYENFIN RNLEAKEERI NKLHSEGDQL LAAEHPGRNS IEAHMEAVHA
DWKEYLNLLI CEESHLKYME DYHQFHEDVK DAQELLRKVD SDLNQKYGPD FKDRYQIELL
LRELDDQEKV LDKYEDVVQG LQKRGQQVVP LKYRRETPLK PIPVEALCDF EGEQGLISRG
YSYTLQKNNG ESWELMDSAG NKLIAPAVCF VIPPTDPEAL ALADSLGSQY RSVRQKAAGS
KRTLQQRYEV LKTENPGDAS DLQGRQLLAG LDKVASDLDR QEKAITGILR PPLEQGRAVQ
DSAERAKDLK NITNELLRIE PEKTRSTAEG EAFIQALPGS GTTPLLRTRV EDTNRKYEHL
LQLLDLAQEK VDVANRLEKS LQQSWELLAT HENHLNQDDT VPESSRVLDS KGQELAAMAC
ELQAQKSLLG EVEQNLQAAK QCSSTLASRF QEHCPDLERQ EAEVHKLGQR FNNLRQQVER
RAQSLQSAKA AYEHFHRGHD HVLQFLVSIP SYEPQETDSL SQMETKLKNQ KNLLDEIASR
EQEVQKICAN SQQYQQAVKD YELEAEKLRS LLDLENGRRS HVSKRARLQS PATKVKEEEA
ALAAKFTEVY AINRQRLQNL EFALNLLRQQ PEVEVTHETL QRNRPDSGVE EAWKIRKELD
EETERRRQLE NEVKSTQEEI WTLRNQGPQE SVVRKEVLKK VPDPVLEESF QQLQRTLAEE
QHKNQLLQEE LEALQLQLRA LEQETRDGGQ EYVVKEVLRI EPDRAQADEV LQLREELEAL
RRQKGAREAE VLLLQQRVAA LAEEKSRAQE KVTEKEVVKL QNDPQLEAEY QQLQEDHQRQ
DQLREKQEEE LSFLQDKLKR LEKERAMAEG KITVKEVLKV EKDAATEREV SDLTRQYEDE
AAKARASQRE KTELLRKIWA LEEENAKVVV QEKVREIVRP DPKAESEVAN LRLELVEQER
KYRGAEEQLR SYQSELEALR RRGPQVEVKE VTKEVIKYKT DPEMEKELQR LREEIVDKTR
LIERCDLEIY QLKKEIQALK DTKPQVQTKE VVQEILQFQE DPQTKEEVAS LRAKLSEEQK
KQVDLERERA SQEEQIARKE EELSRVKERV VQQEVVRYEE EPGLRAEASA FAESIDVELR
QIDKLRAELR RLQRRRTELE RQLEELERER QARREAEREV QRLQQRLAAL EQEEAEAREK
VTHTQKVVLQ QDPQQAREHA LLRLQLEEEQ HRRQLLEGEL ETLRRKLAAL EKAEVKEKVV
LSESVQVEKG DTEQEIQRLK SSLEEESRSK RELDVEVSRL EARLSELEFH NSKSSKELDF
LREENHKLQL ERQNLQLETR RLQSEINMAA TETRDLRNMT VADSGTNHDS RLWSLERELD
DLKRLSKDKD LEIDELQKRL GSVAVKREQR ENHLRRSIVV IHPDTGRELS PEEAHRAGLI
DWNMFVKLRS QECDWEEISV KGPNGESSVI HDRKSGKKFS IEEALQSGRL TPAQYDRYVN
KDMSIQELAV LVSGQK*

mutated AA sequence

MNSLFRKRNK GKYSPTVQTR SISNKELSEL IEQLQKNADQ VEKNIVDTEA KMQSDLARLQ
EGRQPEHRDV TLQKVLDSEK LLYVLEADAA IAKHMKHPQG DMIAEDIRQL KERVTNLRGK
HKQIYRLAVK EVDPQVNWAA LVEEKLDKLN NQSFGTDLPL VDHQVEEHNI FHNEVKAIGP
HLAKDGDKEQ NSELRAKYQK LLAASQARQQ HLSSLQDYMQ RCTNELYWLD QQAKGRMQYD
WSDRNLDYPS RRRQYENFIN RNLEAKEERI NKLHSEGDQL LAAEHPGRNS IEAHMEAVHA
DWKEYLNLLI CEESHLKYME DYHQFHEDVK DAQELLRKVD SDLNQKYGPD FKDRYQIELL
LRELDDQEKV LDKYEDVVQG LQKRGQQVVP LKYRRETPLK PIPVEALCDF EGEQGLISRG
YSYTLQKNNG ESWELMDSAG NKLIAPAVCF VIPPTDPEAL ALADSLGSQY RSVRQKAAGS
KRTLQQRYEV LKTENPGDAS DLQGRQLLAG LDKVASDLDR QEKAITGILR PPLEQGRAVQ
DSAERAKDLK NITNELLRIE PEKTRSTAEG EAFIQALPGS GTTPLLRTRV EDTNRKYEHL
LQLLDLAQEK VDVANRLEKS LQQSWELLAT HENHLNQDDT VPESSRVLDS KGQELAAMAC
ELQAQKSLLG EVEQNLQAAK QCSSTLASRF QEHCPDLERQ EAEVHKLGQR FNNLRQQVER
RAQSLQSAKA AYEHFHRGHD HVLQFLVSIP SYEPQETDSL SQMETKLKNQ KNLLDEIASR
EQEVQKICAN SQQYQQAVKD YELEAEKLRS LLDLENGRRS HVSKRARLQS PATKVKEEEA
ALAAKFTEVY AINRQRLQNL EFALNLLRQQ PEVEVTHETL QRNRPDSGVE EAWKIRKELD
EETERRRQLE NEVKSTQEEI WTLRNQGPQE SVVRKEVLKK VPDPVLEESF QQLQRTLAEE
QHKNQLLQEE LEALQLQLRA LEQETRDGGQ EYVVKEVLRI EPDRAQADEV LQLREELEAL
RRQKGAREAE VLLLQQRVAA LAEEKSRAQE KVTEKEVVKL QNDPQLEAEY QQLQEDHQRQ
DQLREKQEEE LSFLQDKLKR LEKERAMAEG KITVKEVLKV EKDAATEREV SDLTRQYEDE
AAKARASQRE KTELLRKIWA LEEENAKVVV QEKVREIVRP DPKAESEVAN LRLELVEQER
KYRGAEEQLR SYQSELEALR RRGPQVEVKE VTKEVIKYKT DPEMEKELQR LREEIVDKTR
LIERCDLEIY QLKKEIQALK DTKPQVQTKE VVQEILQFQE DPQTKEEVAS LRAKLSEEQK
KQVDLERERA SQEEQIARKE EELSRVKERV VQQEVVRYEE EPGLRAEASA FAESIDVELR
QIDKLRAELR RLQRRRTELE RQLEELERER QARREAEREV QRLQQRLAAL EQEEAEAREK
VTHTQKVVLQ QDPQQAREHA LLRLQLEEEQ HRRQLLEGEL ETLRRKLAAL EKAEVKEKVV
LSESVQVEKG DTEQEIQRLK SSLEEESRSK RELDVEVSRL EARLSELEFH NSKSSKELDF
LREENHKLQL ERENLQLETR RLQSEINMAA TETRDLRNMT VADSGTNHDS RLWSLERELD
DLKRLSKDKD LEIDELQKRL GSVAVKREQR ENHLRRSIVV IHPDTGRELS PEEAHRAGLI
DWNMFVKLRS QECDWEEISV KGPNGESSVI HDRKSGKKFS IEEALQSGRL TPAQYDRYVN
KDMSIQELAV LVSGQK*

speed

0.46 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

polymorphism

Model: simple_aae, prob: 1.56082596073324e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:4933939G>CN/A show variant in all transcripts IGV

HGNC symbol

PPL

Ensembl transcript ID

ENST00000590782

Genbank transcript ID

N/A

UniProt peptide

O60437

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4711C>G
cDNA.4730C>G
g.76804C>G

AA changes

Q1571E Score: 29 explain score(s)

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

1571

frameshift

known variant

Reference ID: rs2037912

database	homozygous (C/C)	heterozygous	allele carriers
1000G	541	935	1476
ExAC	16689	-611	16078

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.484	0.997
	6.253	1
(flanking)	0.693	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
Donor marginally increased	76801	wt: 0.8754 / mu: 0.9029 (marginal change - not scored)	wt: TGGAGAGGCAAAACC mu: TGGAGAGGGAAAACC	GAGA\|ggca
Donor gained	76803	0.46	mu: GAGAGGGAAAACCTG	GAGG\|gaaa

distance from splice site

823

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1571

mutated

all conserved

1571

Ptroglodytes

all identical

ENSPTRG00000007732

1461

Mmulatta

all identical

ENSMMUG00000017822

1578

Fcatus

all identical

ENSFCAG00000004571

1468

Mmusculus

all identical

ENSMUSG00000039457

1571

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000012163

311

Drerio

all identical

ENSDARG00000037898

1570

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000009137

1560

protein features

start (aa)	end (aa)	feature	details
886	1645	COILED	Potential.	lost
1579	1579	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1651	1685	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
1657	1657	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1663	1663	CONFLICT	P -> L (in Ref. 1; AAC17738).	might get lost (downstream of altered splice site)
1700	1735	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5265 / 5265

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

1755 / 1755

position of stopcodon in wt / mu cDNA

5284 / 5284

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

20 / 20

chromosome

strand

-1

last intron/exon boundary

5553

theoretical NMD boundary in CDS

5483

length of CDS

5265

coding sequence (CDS) position

4711

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

4730

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

76804

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

4933939

original gDNA sequence snippet

ACAAATTACAGCTGGAGAGGCAAAACCTGCAGCTGGAGACC

altered gDNA sequence snippet

ACAAATTACAGCTGGAGAGGGAAAACCTGCAGCTGGAGACC

original cDNA sequence snippet

ACAAATTACAGCTGGAGAGGCAAAACCTGCAGCTGGAGACC

altered cDNA sequence snippet

ACAAATTACAGCTGGAGAGGGAAAACCTGCAGCTGGAGACC

wildtype AA sequence

MNSLFRKRNK GKYSPTVQTR SISNKELSEL IEQLQKNADQ VEKNIVDTEA KMQSDLARLQ
EGRQPEHRDV TLQKVLDSEK LLYVLEADAA IAKHMKHPQG DMIAEDIRQL KERVTNLRGK
HKQIYRLAVK EVDPQVNWAA LVEEKLDKLN NQSFGTDLPL VDHQVEEHNI FHNEVKAIGP
HLAKDGDKNS ELRAKYQKLL AASQARQQHL SSLQDYMQRC TNELYWLDQQ AKGRMQYDWS
DRNLDYPSRR RQYENFINRN LEAKEERINK LHSEGDQLLA AEHPGRNSIE AHMEAVHADW
KEYLNLLICE ESHLKYMEDY HQFHEDVKDA QELLRKVDSD LNQKYGPDFK DRYQIELLLR
ELDDQEKVLD KYEDVVQGLQ KRGQQVVPLK YRRETPLKPI PVEALCDFEG EQGLISRGYS
YTLQKNNGES WELMDSAGNK LIAPAVCFVI PPTDPEALAL ADSLGSQYRS VRQKAAGSKR
TLQQRYEVLK TENPGDASDL QGRQLLAGLD KVASDLDRQE KAITGILRPP LEQGRAVQDS
AERAKDLKNI TNELLRIEPE KTRSTAEGEA FIQALPGSGT TPLLRTRVED TNRKYEHLLQ
LLDLAQEKVD VANRLEKSLQ QSWELLATHE NHLNQDDTVP ESSRVLDSKG QELAAMACEL
QAQKSLLGEV EQNLQAAKQC SSTLASRFQE HCPDLERQEA EVHKLGQRFN NLRQQVERRA
QSLQSAKAAY EHFHRGHDHV LQFLVSIPSY EPQETDSLSQ METKLKNQKN LLDEIASREQ
EVQKICANSQ QYQQAVKDYE LEAEKLRSLL DLENGRRSHV SKRARLQSPA TKVKEEEAAL
AAKFTEVYAI NRQRLQNLEF ALNLLRQQPE VEVTHETLQR NRPDSGVEEA WKIRKELDEE
TERRRQLENE VKSTQEEIWT LRNQGPQESV VRKEVLKKVP DPVLEESFQQ LQRTLAEEQH
KNQLLQEELE ALQLQLRALE QETRDGGQEY VVKEVLRIEP DRAQADEVLQ LREELEALRR
QKGAREAEVL LLQQRVAALA EEKSRAQEKV TEKEVVKLQN DPQLEAEYQQ LQEDHQRQDQ
LREKQEEELS FLQDKLKRLE KERAMAEGKI TVKEVLKVEK DAATEREVSD LTRQYEDEAA
KARASQREKT ELLRKIWALE EENAKVVVQE KVREIVRPDP KAESEVANLR LELVEQERKY
RGAEEQLRSY QSELEALRRR GPQVEVKEVT KEVIKYKTDP EMEKELQRLR EEIVDKTRLI
ERCDLEIYQL KKEIQALKDT KPQVQTKEVV QEILQFQEDP QTKEEVASLR AKLSEEQKKQ
VDLERERASQ EEQIARKEEE LSRVKERVVQ QEVVRYEEEP GLRAEASAFA ESIDVELRQI
DKLRAELRRL QRRRTELERQ LEELERERQA RREAEREVQR LQQRLAALEQ EEAEAREKVT
HTQKVVLQQD PQQAREHALL RLQLEEEQHR RQLLEGELET LRRKLAALEK AEVKEKVVLS
ESVQVEKGDT EQEIQRLKSS LEEESRSKRE LDVEVSRLEA RLSELEFHNS KSSKELDFLR
EENHKLQLER QNLQLETRRL QSEINMAATE TRDLRNMTVA DSGTNHDSRL WSLERELDDL
KRLSKDKDLE IDELQKRLGS VAVKREQREN HLRRSIVVIH PDTGRELSPE EAHRAGLIDW
NMFVKLRSQE CDWEEISVKG PNGESSVIHD RKSGKKFSIE EALQSGRLTP AQYDRYVNKD
MSIQELAVLV SGQK*

mutated AA sequence

MNSLFRKRNK GKYSPTVQTR SISNKELSEL IEQLQKNADQ VEKNIVDTEA KMQSDLARLQ
EGRQPEHRDV TLQKVLDSEK LLYVLEADAA IAKHMKHPQG DMIAEDIRQL KERVTNLRGK
HKQIYRLAVK EVDPQVNWAA LVEEKLDKLN NQSFGTDLPL VDHQVEEHNI FHNEVKAIGP
HLAKDGDKNS ELRAKYQKLL AASQARQQHL SSLQDYMQRC TNELYWLDQQ AKGRMQYDWS
DRNLDYPSRR RQYENFINRN LEAKEERINK LHSEGDQLLA AEHPGRNSIE AHMEAVHADW
KEYLNLLICE ESHLKYMEDY HQFHEDVKDA QELLRKVDSD LNQKYGPDFK DRYQIELLLR
ELDDQEKVLD KYEDVVQGLQ KRGQQVVPLK YRRETPLKPI PVEALCDFEG EQGLISRGYS
YTLQKNNGES WELMDSAGNK LIAPAVCFVI PPTDPEALAL ADSLGSQYRS VRQKAAGSKR
TLQQRYEVLK TENPGDASDL QGRQLLAGLD KVASDLDRQE KAITGILRPP LEQGRAVQDS
AERAKDLKNI TNELLRIEPE KTRSTAEGEA FIQALPGSGT TPLLRTRVED TNRKYEHLLQ
LLDLAQEKVD VANRLEKSLQ QSWELLATHE NHLNQDDTVP ESSRVLDSKG QELAAMACEL
QAQKSLLGEV EQNLQAAKQC SSTLASRFQE HCPDLERQEA EVHKLGQRFN NLRQQVERRA
QSLQSAKAAY EHFHRGHDHV LQFLVSIPSY EPQETDSLSQ METKLKNQKN LLDEIASREQ
EVQKICANSQ QYQQAVKDYE LEAEKLRSLL DLENGRRSHV SKRARLQSPA TKVKEEEAAL
AAKFTEVYAI NRQRLQNLEF ALNLLRQQPE VEVTHETLQR NRPDSGVEEA WKIRKELDEE
TERRRQLENE VKSTQEEIWT LRNQGPQESV VRKEVLKKVP DPVLEESFQQ LQRTLAEEQH
KNQLLQEELE ALQLQLRALE QETRDGGQEY VVKEVLRIEP DRAQADEVLQ LREELEALRR
QKGAREAEVL LLQQRVAALA EEKSRAQEKV TEKEVVKLQN DPQLEAEYQQ LQEDHQRQDQ
LREKQEEELS FLQDKLKRLE KERAMAEGKI TVKEVLKVEK DAATEREVSD LTRQYEDEAA
KARASQREKT ELLRKIWALE EENAKVVVQE KVREIVRPDP KAESEVANLR LELVEQERKY
RGAEEQLRSY QSELEALRRR GPQVEVKEVT KEVIKYKTDP EMEKELQRLR EEIVDKTRLI
ERCDLEIYQL KKEIQALKDT KPQVQTKEVV QEILQFQEDP QTKEEVASLR AKLSEEQKKQ
VDLERERASQ EEQIARKEEE LSRVKERVVQ QEVVRYEEEP GLRAEASAFA ESIDVELRQI
DKLRAELRRL QRRRTELERQ LEELERERQA RREAEREVQR LQQRLAALEQ EEAEAREKVT
HTQKVVLQQD PQQAREHALL RLQLEEEQHR RQLLEGELET LRRKLAALEK AEVKEKVVLS
ESVQVEKGDT EQEIQRLKSS LEEESRSKRE LDVEVSRLEA RLSELEFHNS KSSKELDFLR
EENHKLQLER ENLQLETRRL QSEINMAATE TRDLRNMTVA DSGTNHDSRL WSLERELDDL
KRLSKDKDLE IDELQKRLGS VAVKREQREN HLRRSIVVIH PDTGRELSPE EAHRAGLIDW
NMFVKLRSQE CDWEEISVKG PNGESSVIHD RKSGKKFSIE EALQSGRLTP AQYDRYVNKD
MSIQELAVLV SGQK*

speed

0.46 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems