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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000546057
Querying Taster for transcript #2: ENST00000535250
Querying Taster for transcript #3: ENST00000328963
Querying Taster for transcript #4: ENST00000541446
MT speed 0 s - this script 5.674381 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
P2RX7	polymorphism_automatic	4.1639264432014e-05	simple_aae				A258T	single base exchange	rs1718119		show file
P2RX7	polymorphism_automatic	4.1639264432014e-05	simple_aae				A178T	single base exchange	rs1718119		show file
P2RX7	polymorphism_automatic	4.1639264432014e-05	simple_aae				A59T	single base exchange	rs1718119		show file
P2RX7	polymorphism_automatic	7.3312380448054e-05	simple_aae				A348T	single base exchange	rs1718119		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999958360735568 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM098354)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:121615103G>AN/A show variant in all transcripts IGV

HGNC symbol

P2RX7

Ensembl transcript ID

ENST00000535250

Genbank transcript ID

N/A

UniProt peptide

Q99572

alteration type

single base exchange

alteration region

CDS

DNA changes

c.772G>A
cDNA.1181G>A
g.44482G>A

AA changes

A258T Score: 58 explain score(s)

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

258

frameshift

known variant

Reference ID: rs1718119

database	homozygous (A/A)	heterozygous	allele carriers
1000G	308	999	1307
ExAC	8441	15885	24326

known disease mutation at this position, please check HGMD for details (HGMD ID CM098354)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.957	1
	1.184	0.998
(flanking)	4.078	0.992

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 decreased	44478	wt: 0.9748 / mu: 0.9635 (marginal change - not scored)	wt: GCTTGTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTT mu: GCTTGTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTT	ccag\|GCCG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

258

mutated

not conserved

258

Ptroglodytes

not conserved

ENSPTRG00000005554

348

Mmulatta

not conserved

ENSMMUG00000006298

348

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000029468

348

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000042440

343

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
47	334	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1518 / 1518

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

506 / 506

position of stopcodon in wt / mu cDNA

1927 / 1927

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

410 / 410

chromosome

strand

last intron/exon boundary

1430

theoretical NMD boundary in CDS

970

length of CDS

1518

coding sequence (CDS) position

772

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

1181

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

44482

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

121615103

original gDNA sequence snippet

GTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTTCCTC

altered gDNA sequence snippet

GTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTTCCTC

original cDNA sequence snippet

TCTCCTACTTCGGTCTGGCCGCTGTGTTCATCGACTTCCTC

altered cDNA sequence snippet

TCTCCTACTTCGGTCTGGCCACTGTGTTCATCGACTTCCTC

wildtype AA sequence

MTPGDHSWGN SFFVMTNFLK TEGQEQRLCP EYPTRRTLCS SDRGCKKGWM DPQSKGIQTG
RCVVYEGNQK TCEVSAWCPI EAVEEAPRPA LLNSAENFTV LIKNNIDFPG HNYTTRNILP
GLNITCTFHK TQNPQCPIFR LGDIFRETGD NFSDVAIQGG IMGIEIYWDC NLDRWFHHCR
PKYSFRRLDD KTTNVSLYPG YNFRYAKYYK ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI
IQLVVYIGST LSYFGLAAVF IDFLIDTYSS NCCRSHIYPW CKCCQPCVVN EYYYRKKCES
IVEPKPTLKY VSFVDESHIR MVNQQLLGRS LQDVKGQEVP RPAMDFTDLS RLPLALHDTP
PIPGQPEEIQ LLRKEATPRS RDSPVWCQCG SCLPSQLPES HRCLEELCCR KKPGACITTS
ELFRKLVLSR HVLQFLLLYQ EPLLALDVDS TNSRLRHCAY RCYATWRFGS QDMADFANLP
SCCRWRIRKE FPKSEGQYSG FKSPY*

mutated AA sequence

MTPGDHSWGN SFFVMTNFLK TEGQEQRLCP EYPTRRTLCS SDRGCKKGWM DPQSKGIQTG
RCVVYEGNQK TCEVSAWCPI EAVEEAPRPA LLNSAENFTV LIKNNIDFPG HNYTTRNILP
GLNITCTFHK TQNPQCPIFR LGDIFRETGD NFSDVAIQGG IMGIEIYWDC NLDRWFHHCR
PKYSFRRLDD KTTNVSLYPG YNFRYAKYYK ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI
IQLVVYIGST LSYFGLATVF IDFLIDTYSS NCCRSHIYPW CKCCQPCVVN EYYYRKKCES
IVEPKPTLKY VSFVDESHIR MVNQQLLGRS LQDVKGQEVP RPAMDFTDLS RLPLALHDTP
PIPGQPEEIQ LLRKEATPRS RDSPVWCQCG SCLPSQLPES HRCLEELCCR KKPGACITTS
ELFRKLVLSR HVLQFLLLYQ EPLLALDVDS TNSRLRHCAY RCYATWRFGS QDMADFANLP
SCCRWRIRKE FPKSEGQYSG FKSPY*

speed

0.98 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: 0.999958360735568 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM098354)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:121615103G>AN/A show variant in all transcripts IGV

HGNC symbol

P2RX7

Ensembl transcript ID

ENST00000328963

Genbank transcript ID

N/A

UniProt peptide

Q99572

alteration type

single base exchange

alteration region

CDS

DNA changes

c.532G>A
cDNA.986G>A
g.44482G>A

AA changes

A178T Score: 58 explain score(s)

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

178

frameshift

known variant

Reference ID: rs1718119

database	homozygous (A/A)	heterozygous	allele carriers
1000G	308	999	1307
ExAC	8441	15885	24326

known disease mutation at this position, please check HGMD for details (HGMD ID CM098354)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.957	1
	1.184	0.998
(flanking)	4.078	0.992

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 decreased	44478	wt: 0.9748 / mu: 0.9635 (marginal change - not scored)	wt: GCTTGTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTT mu: GCTTGTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTT	ccag\|GCCG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

178

mutated

not conserved

178

Ptroglodytes

not conserved

ENSPTRG00000005554

348

Mmulatta

not conserved

ENSMMUG00000006298

348

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000029468

348

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000042440

343

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
47	334	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1278 / 1278

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

426 / 426

position of stopcodon in wt / mu cDNA

1732 / 1732

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

455 / 455

chromosome

strand

last intron/exon boundary

1235

theoretical NMD boundary in CDS

730

length of CDS

1278

coding sequence (CDS) position

532

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

986

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

44482

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

121615103

original gDNA sequence snippet

GTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTTCCTC

altered gDNA sequence snippet

GTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTTCCTC

original cDNA sequence snippet

TCTCCTACTTCGGTCTGGCCGCTGTGTTCATCGACTTCCTC

altered cDNA sequence snippet

TCTCCTACTTCGGTCTGGCCACTGTGTTCATCGACTTCCTC

wildtype AA sequence

MDGPAEQRPA LLNSAENFTV LIKNNIDFPG HNYTTRNILP GLNITCTFHK TQNPQCPIFR
LGDIFRETGD NFSDVAIQGG IMGIEIYWDC NLDRWFHHCR PKYSFRRLDD KTTNVSLYPG
YNFRYAKYYK ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI IQLVVYIGST LSYFGLAAVF
IDFLIDTYSS NCCRSHIYPW CKCCQPCVVN EYYYRKKCES IVEPKPTLKY VSFVDESHIR
MVNQQLLGRS LQDVKGQEVP RPAMDFTDLS RLPLALHDTP PIPGQPEEIQ LLRKEATPRS
RDSPVWCQCG SCLPSQLPES HRCLEELCCR KKPGACITTS ELFRKLVLSR HVLQFLLLYQ
EPLLALDVDS TNSRLRHCAY RCYATWRFGS QDMADFANLP SCCRWRIRKE FPKSEGQYSG
FKSPY*

mutated AA sequence

MDGPAEQRPA LLNSAENFTV LIKNNIDFPG HNYTTRNILP GLNITCTFHK TQNPQCPIFR
LGDIFRETGD NFSDVAIQGG IMGIEIYWDC NLDRWFHHCR PKYSFRRLDD KTTNVSLYPG
YNFRYAKYYK ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI IQLVVYIGST LSYFGLATVF
IDFLIDTYSS NCCRSHIYPW CKCCQPCVVN EYYYRKKCES IVEPKPTLKY VSFVDESHIR
MVNQQLLGRS LQDVKGQEVP RPAMDFTDLS RLPLALHDTP PIPGQPEEIQ LLRKEATPRS
RDSPVWCQCG SCLPSQLPES HRCLEELCCR KKPGACITTS ELFRKLVLSR HVLQFLLLYQ
EPLLALDVDS TNSRLRHCAY RCYATWRFGS QDMADFANLP SCCRWRIRKE FPKSEGQYSG
FKSPY*

speed

1.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999958360735568 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM098354)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:121615103G>AN/A show variant in all transcripts IGV

HGNC symbol

P2RX7

Ensembl transcript ID

ENST00000541446

Genbank transcript ID

N/A

UniProt peptide

Q99572

alteration type

single base exchange

alteration region

CDS

DNA changes

c.175G>A
cDNA.832G>A
g.44482G>A

AA changes

A59T Score: 58 explain score(s)

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

frameshift

known variant

Reference ID: rs1718119

database	homozygous (A/A)	heterozygous	allele carriers
1000G	308	999	1307
ExAC	8441	15885	24326

known disease mutation at this position, please check HGMD for details (HGMD ID CM098354)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.957	1
	1.184	0.998
(flanking)	4.078	0.992

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 decreased	44478	wt: 0.9748 / mu: 0.9635 (marginal change - not scored)	wt: GCTTGTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTT mu: GCTTGTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTT	ccag\|GCCG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000005554

348

Mmulatta

not conserved

ENSMMUG00000006298

348

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000029468

348

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000042440

343

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
47	334	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

921 / 921

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

307 / 307

position of stopcodon in wt / mu cDNA

1578 / 1578

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

658 / 658

chromosome

strand

last intron/exon boundary

1081

theoretical NMD boundary in CDS

373

length of CDS

921

coding sequence (CDS) position

175

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

832

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

44482

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

121615103

original gDNA sequence snippet

GTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTTCCTC

altered gDNA sequence snippet

GTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTTCCTC

original cDNA sequence snippet

TCTCCTACTTCGGTCTGGCCGCTGTGTTCATCGACTTCCTC

altered cDNA sequence snippet

TCTCCTACTTCGGTCTGGCCACTGTGTTCATCGACTTCCTC

wildtype AA sequence

MWQFRYAKYY KENNVEKRTL IKVFGIRFDI LVFGTGGKFD IIQLVVYIGS TLSYFGLAAV
FIDFLIDTYS SNCCRSHIYP WCKCCQPCVV NEYYYRKKCE SIVEPKPTLK YVSFVDESHI
RMVNQQLLGR SLQDVKGQEV PRPAMDFTDL SRLPLALHDT PPIPGQPEEI QLLRKEATPR
SRDSPVWCQC GSCLPSQLPE SHRCLEELCC RKKPGACITT SELFRKLVLS RHVLQFLLLY
QEPLLALDVD STNSRLRHCA YRCYATWRFG SQDMADFANL PSCCRWRIRK EFPKSEGQYS
GFKSPY*

mutated AA sequence

MWQFRYAKYY KENNVEKRTL IKVFGIRFDI LVFGTGGKFD IIQLVVYIGS TLSYFGLATV
FIDFLIDTYS SNCCRSHIYP WCKCCQPCVV NEYYYRKKCE SIVEPKPTLK YVSFVDESHI
RMVNQQLLGR SLQDVKGQEV PRPAMDFTDL SRLPLALHDT PPIPGQPEEI QLLRKEATPR
SRDSPVWCQC GSCLPSQLPE SHRCLEELCC RKKPGACITT SELFRKLVLS RHVLQFLLLY
QEPLLALDVD STNSRLRHCA YRCYATWRFG SQDMADFANL PSCCRWRIRK EFPKSEGQYS
GFKSPY*

speed

1.19 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999926687619552 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM098354)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:121615103G>AN/A show variant in all transcripts IGV

HGNC symbol

P2RX7

Ensembl transcript ID

ENST00000546057

Genbank transcript ID

NM_002562

UniProt peptide

Q99572

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1042G>A
cDNA.1185G>A
g.44482G>A

AA changes

A348T Score: 58 explain score(s)

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

348

frameshift

known variant

Reference ID: rs1718119

database	homozygous (A/A)	heterozygous	allele carriers
1000G	308	999	1307
ExAC	8441	15885	24326

known disease mutation at this position, please check HGMD for details (HGMD ID CM098354)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.957	1
	1.184	0.998
(flanking)	4.078	0.992

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 decreased	44478	wt: 0.9748 / mu: 0.9635 (marginal change - not scored)	wt: GCTTGTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTT mu: GCTTGTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTT	ccag\|GCCG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

348

mutated

not conserved

348

Ptroglodytes

not conserved

ENSPTRG00000005554

348

Mmulatta

not conserved

ENSMMUG00000006298

348

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000029468

348

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000042440

343

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
335	355	TRANSMEM	Helical; Name=2; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1788 / 1788

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

596 / 596

position of stopcodon in wt / mu cDNA

1931 / 1931

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

144 / 144

chromosome

strand

last intron/exon boundary

1434

theoretical NMD boundary in CDS

1240

length of CDS

1788

coding sequence (CDS) position

1042

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

1185

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

44482

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

121615103

original gDNA sequence snippet

GTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTTCCTC

altered gDNA sequence snippet

GTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTTCCTC

original cDNA sequence snippet

TCTCCTACTTCGGTCTGGCCGCTGTGTTCATCGACTTCCTC

altered cDNA sequence snippet

TCTCCTACTTCGGTCTGGCCACTGTGTTCATCGACTTCCTC

wildtype AA sequence

MPACCSCSDV FQYETNKVTR IQSMNYGTIK WFFHVIIFSY VCFALVSDKL YQRKEPVISS
VHTKVKGIAE VKEEIVENGV KKLVHSVFDT ADYTFPLQGN SFFVMTNFLK TEGQEQRLCP
EYPTRRTLCS SDRGCKKGWM DPQSKGIQTG RCVVYEGNQK TCEVSAWCPI EAVEEAPRPA
LLNSAENFTV LIKNNIDFPG HNYTTRNILP GLNITCTFHK TQNPQCPIFR LGDIFRETGD
NFSDVAIQGG IMGIEIYWDC NLDRWFHHCR PKYSFRRLDD KTTNVSLYPG YNFRYAKYYK
ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI IQLVVYIGST LSYFGLAAVF IDFLIDTYSS
NCCRSHIYPW CKCCQPCVVN EYYYRKKCES IVEPKPTLKY VSFVDESHIR MVNQQLLGRS
LQDVKGQEVP RPAMDFTDLS RLPLALHDTP PIPGQPEEIQ LLRKEATPRS RDSPVWCQCG
SCLPSQLPES HRCLEELCCR KKPGACITTS ELFRKLVLSR HVLQFLLLYQ EPLLALDVDS
TNSRLRHCAY RCYATWRFGS QDMADFANLP SCCRWRIRKE FPKSEGQYSG FKSPY*

mutated AA sequence

MPACCSCSDV FQYETNKVTR IQSMNYGTIK WFFHVIIFSY VCFALVSDKL YQRKEPVISS
VHTKVKGIAE VKEEIVENGV KKLVHSVFDT ADYTFPLQGN SFFVMTNFLK TEGQEQRLCP
EYPTRRTLCS SDRGCKKGWM DPQSKGIQTG RCVVYEGNQK TCEVSAWCPI EAVEEAPRPA
LLNSAENFTV LIKNNIDFPG HNYTTRNILP GLNITCTFHK TQNPQCPIFR LGDIFRETGD
NFSDVAIQGG IMGIEIYWDC NLDRWFHHCR PKYSFRRLDD KTTNVSLYPG YNFRYAKYYK
ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI IQLVVYIGST LSYFGLATVF IDFLIDTYSS
NCCRSHIYPW CKCCQPCVVN EYYYRKKCES IVEPKPTLKY VSFVDESHIR MVNQQLLGRS
LQDVKGQEVP RPAMDFTDLS RLPLALHDTP PIPGQPEEIQ LLRKEATPRS RDSPVWCQCG
SCLPSQLPES HRCLEELCCR KKPGACITTS ELFRKLVLSR HVLQFLLLYQ EPLLALDVDS
TNSRLRHCAY RCYATWRFGS QDMADFANLP SCCRWRIRKE FPKSEGQYSG FKSPY*

speed

1.23 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems