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: ENST00000399537
Querying Taster for transcript #2: ENST00000430969
MT speed 0 s - this script 3.760757 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TNRC18	polymorphism_automatic	7.71721460302022e-06	simple_aae		affected		N1676D	single base exchange	rs35508364		show file
TNRC18	polymorphism_automatic	7.71721460302022e-06	simple_aae		affected		N1676D	single base exchange	rs35508364		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999992282785397 (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)

chr7:5396715T>CN/A show variant in all transcripts IGV

HGNC symbol

TNRC18

Ensembl transcript ID

ENST00000399537

Genbank transcript ID

N/A

UniProt peptide

O15417

alteration type

single base exchange

alteration region

CDS

DNA changes

c.5026A>G
cDNA.5375A>G
g.68331A>G

AA changes

N1676D Score: 23 explain score(s)

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

1676

frameshift

known variant

Reference ID: rs35508364

database	homozygous (C/C)	heterozygous	allele carriers
1000G	412	1041	1453
ExAC	2207	5565	7772

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.364	1
	1.036	1
(flanking)	2.213	1

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 gained	68330	0.74	mu: GGGAAGGACAGGAAG	GAAG\|gaca

distance from splice site

169

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1676

mutated

all conserved

1676

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000008220

555

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000039477

1606

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000005638

n/a

Drerio

not conserved

ENSDARG00000077052

1681

Dmelanogaster

no alignment

FBgn0051151

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007504

1268

protein features

start (aa)	end (aa)	feature	details
1828	1841	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
1857	1857	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2292	2292	CONFLICT	S -> P (in Ref. 4; AAB91447).	might get lost (downstream of altered splice site)
2328	2328	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).	might get lost (downstream of altered splice site)
2353	2437	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2411	2411	CONFLICT	P -> S (in Ref. 4; AAB91447).	might get lost (downstream of altered splice site)
2547	2547	CONFLICT	A -> V (in Ref. 4; AAB91447).	might get lost (downstream of altered splice site)
2557	2681	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)
2817	2962	DOMAIN	BAH.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8907 / 8907

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

2969 / 2969

position of stopcodon in wt / mu cDNA

9256 / 9256

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

350 / 350

chromosome

strand

-1

last intron/exon boundary

9050

theoretical NMD boundary in CDS

8650

length of CDS

8907

coding sequence (CDS) position

5026

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

5375

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

68331

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

5396715

original gDNA sequence snippet

ACGACAGCCTGCTGGGGAAGAACAGGAAGGCGCTGGCCAAG

altered gDNA sequence snippet

ACGACAGCCTGCTGGGGAAGGACAGGAAGGCGCTGGCCAAG

original cDNA sequence snippet

ACGACAGCCTGCTGGGGAAGAACAGGAAGGCGCTGGCCAAG

altered cDNA sequence snippet

ACGACAGCCTGCTGGGGAAGGACAGGAAGGCGCTGGCCAAG

wildtype AA sequence

MDGRDFGPQR SVHGPPPPLL SGLAMDSHRV GAATAGRLPA SGLPGPLPPG KYMAGLNLHP
HPGEAFLGSF VASGMGPSAS SHGSPVPLPS DLSFRSPTPS NLPMVQLWAA HAHEGFSHLP
SGLYPSYLHL NHLEPPSSGS PLLSQLGQPS IFDTQKGQGP GGDGFYLPTA GAPGSLHSHA
PSARTPGGGH SSGAPAKGSS SRDGPAKERA GRGGEPPPLF GKKDPRARGE EASGPRGVVD
LTQEARAEGR QDRGPPRLAE RLSPFLAESK TKNAALQPSV LTMCNGGAGD VGLPALVAEA
GRGGAKEAAR QDEGARLLRR TETLLPGPRP CPSPLPPPPA PPKGPPAPPA ATPAGVYTVF
REQGREHRVV APTFVPSVEA FDERPGPIQI ASQARDARAR EREAGRPGVL QAPPGSPRPL
DRPEGLREKN SVIRSLKRPP PADAPTVRAT RASPDPRAYV PAKELLKPEA DPRPCERAPR
GPAGPAAQQA AKLFGLEPGR PPPTGPEHKW KPFELGNFAA TQMAVLAAQH HHSRAEEEAA
VVAASSSKKA YLDPGAVLPR SAATCGRPVA DMHSAAHGSG EASAMQSLIK YSGSFARDAV
AVRPGGCGKK SPFGGLGTMK PEPAPTSAGA SRAQARLPHS GGPAAGGGRQ LKRDPERPES
AKAFGREGSG AQGEAEVRHP PVGIAVAVAR QKDSGGSGRL GPGLVDQERS LSLSNVKGHG
RADEDCVDDR ARHREERLLG ARLDRDQEKL LRESKELADL ARLHPTSCAP NGLNPNLMVT
GGPALAGSGR WSADPAAHLA THPWLPRSGN ASMWLAGHPY GLGPPSLHQG MAPAFPPGLG
GSLPSAYQFV RDPQSGQLVV IPSDHLPHFA ELMERATVPP LWPALYPPGR SPLHHAQQLQ
LFSQQHFLRQ QEFLYLQQQA AQALELQRSA QLVQERLKAQ EHRAEMEEKG SKRGLEAAGK
AGLATAGPGL LPRKPPGLAA GPAGTYGKAV SPPPSPRASP VAALKAKVIQ KLEDVSKPPA
YAYPATPSSH PTSPPPASPP PTPGITRKEE APENVVEKKD LELEKEAPSP FQALFSDIPP
RYPFQALPPH YGRPYPFLLQ PTAAADADGL APDVPLPADG PERLALSPED KPIRLSPSKI
TEPLREGPEE EPLAEREVKA EVEDMDEGPT ELPPLESPLP LPAAEAMATP SPAGGCGGGL
LEAQALSATG QSCAEPSECP DFVEGPEPRV DSPGRTEPCT AALDLGVQLT PETLVEAKEE
PVEVPVAVPV VEAVPEEGLA QVAPSESQPT LEMSDCDVPA GEGQCPSLEP QEAVPVLGST
CFLEEASSDQ FLPSLEDPLA GMNALAAAAE LPQARPLPSP GAAGAQALEK LEAAESLVLE
QSFLHGITLL SEIAELELER RSQEMGGAER ALVARPSLES LLAAGSHMLR EVLDGPVVDP
LKNLRLPREL KPNKKYSWMR KKEERMYAMK SSLEDMDALE LDFRMRLAEV QRQYKEKQRE
LVKLQRRRDS EDRREEPHRS LARRGPGRPR KRTHAPSALS PPRKRGKSGH SSGKLSSKSL
LTSDDYELGA GIRKRHKGSE EEHDALIGMG KARGRNQTWD EHEASSDFIS QLKIKKKKMA
SDQEQLASKL DKALSLTKQD KLKSPFKFSD SAGGKSKTSG GCGRYLTPYD SLLGKNRKAL
AKGLGLSLKS SREGKHKRAA KTRKMEVGFK ARGQPKSAHS PFASEVSSYS YNTDSEEDEE
FLKDEWPAQG PSSSKLTPSL LCSMVAKNSK AAGGPKLTKR GLAAPRTLKP KPATSRKQPF
CLLLREAEAR SSFSDSSEES FDQDESSEEE DEEEELEEED EASGGGYRLG ARERALSPGL
EESGLGLLAR FAASALPSPT VGPSLSVVQL EAKQKARKKE ERQSLLGTEF EYTDSESEVK
VRKRSPAGLL RPKKGLGEPG PSLAAPTPGA RGPDPSSPDK AKLAVEKGRK ARKLRGPKEP
GFEAGPEASD DDLWTRRRSE RIFLHDASAA APAPVSTAPA TKTSRCAKGG PLSPRKDAGR
AKDRKDPRKK KKGKEAGPGA GLPPPRAPAL PSEARAPHAS SLTAAKRSKA KAKGKEVKKE
NRGKGGAVSK LMESMAAEED FEPNQDSSFS EDEHLPRGGA VERPLTPAPR SCIIDKDELK
DGLRVLIPMD DKLLYAGHVQ TVHSPDIYRV VVEGERGNRP HIYCLEQLLQ EAIIDVRPAS
TRFLPQGTRI AAYWSQQYRC LYPGTVVRGL LDLEDDGDLI TVEFDDGDTG RIPLSHIRLL
PPDYKIQCAE PSPALLVPSA KRRSRKTSKD TGEGKDGGTA GSEEPGAKAR GRGRKPSAKA
KGGRAATLEE GNPTDEVPST PLALEPSSTP GSKKSPPEPV DKRAKAPKAR PAPPQPSPAP
PAFTSCPAPE PFAELPAPAT SLAPAPLITM PATRPKPKKA RAAEESGAKG PRRPGEEAEL
LVKLDHEGVT SPKSKKAKEA LLLREDPGAG GWQEPKSLLS LGSYPPAAGS SEPKAPWPKA
TDGDLAQEPG PGLTFEDSGN PKSPDKAQAE QDGAEESESS SSSSSGSSSS SSSSSSSGSE
TEGEEEGDKN GDGGCGTGGR NCSAASSRAA SPASSSSSSS SSSSSSSSSS SSSSSSSSSS
SSSSSSSSSS SSSSSSSSSS SSSSSSSSSS STTDEDSSCS SDDEAAPAPT AGPSAQAALP
TKATKQAGKA RPSAHSPGKK TPAPQPQAPP PQPTQPLQPK AQAGAKSRPK KREGVHLPTT
KELAKRQRLP SVENRPKIAA FLPARQLWKW FGKPTQRRGM KGKARKLFYK AIVRGKEMIR
IGDCAVFLSA GRPNLPYIGR IQSMWESWGN NMVVRVKWFY HPEETSPGKQ FHQGQHWDQK
SSRSLPAALR VSSQRKDFME RALYQSSHVD ENDVQTVSHK CLVVGLEQYE QMLKTKKYQD
SEGLYYLAGT YEPTTGMIFS TDGVPVLC*

mutated AA sequence

MDGRDFGPQR SVHGPPPPLL SGLAMDSHRV GAATAGRLPA SGLPGPLPPG KYMAGLNLHP
HPGEAFLGSF VASGMGPSAS SHGSPVPLPS DLSFRSPTPS NLPMVQLWAA HAHEGFSHLP
SGLYPSYLHL NHLEPPSSGS PLLSQLGQPS IFDTQKGQGP GGDGFYLPTA GAPGSLHSHA
PSARTPGGGH SSGAPAKGSS SRDGPAKERA GRGGEPPPLF GKKDPRARGE EASGPRGVVD
LTQEARAEGR QDRGPPRLAE RLSPFLAESK TKNAALQPSV LTMCNGGAGD VGLPALVAEA
GRGGAKEAAR QDEGARLLRR TETLLPGPRP CPSPLPPPPA PPKGPPAPPA ATPAGVYTVF
REQGREHRVV APTFVPSVEA FDERPGPIQI ASQARDARAR EREAGRPGVL QAPPGSPRPL
DRPEGLREKN SVIRSLKRPP PADAPTVRAT RASPDPRAYV PAKELLKPEA DPRPCERAPR
GPAGPAAQQA AKLFGLEPGR PPPTGPEHKW KPFELGNFAA TQMAVLAAQH HHSRAEEEAA
VVAASSSKKA YLDPGAVLPR SAATCGRPVA DMHSAAHGSG EASAMQSLIK YSGSFARDAV
AVRPGGCGKK SPFGGLGTMK PEPAPTSAGA SRAQARLPHS GGPAAGGGRQ LKRDPERPES
AKAFGREGSG AQGEAEVRHP PVGIAVAVAR QKDSGGSGRL GPGLVDQERS LSLSNVKGHG
RADEDCVDDR ARHREERLLG ARLDRDQEKL LRESKELADL ARLHPTSCAP NGLNPNLMVT
GGPALAGSGR WSADPAAHLA THPWLPRSGN ASMWLAGHPY GLGPPSLHQG MAPAFPPGLG
GSLPSAYQFV RDPQSGQLVV IPSDHLPHFA ELMERATVPP LWPALYPPGR SPLHHAQQLQ
LFSQQHFLRQ QEFLYLQQQA AQALELQRSA QLVQERLKAQ EHRAEMEEKG SKRGLEAAGK
AGLATAGPGL LPRKPPGLAA GPAGTYGKAV SPPPSPRASP VAALKAKVIQ KLEDVSKPPA
YAYPATPSSH PTSPPPASPP PTPGITRKEE APENVVEKKD LELEKEAPSP FQALFSDIPP
RYPFQALPPH YGRPYPFLLQ PTAAADADGL APDVPLPADG PERLALSPED KPIRLSPSKI
TEPLREGPEE EPLAEREVKA EVEDMDEGPT ELPPLESPLP LPAAEAMATP SPAGGCGGGL
LEAQALSATG QSCAEPSECP DFVEGPEPRV DSPGRTEPCT AALDLGVQLT PETLVEAKEE
PVEVPVAVPV VEAVPEEGLA QVAPSESQPT LEMSDCDVPA GEGQCPSLEP QEAVPVLGST
CFLEEASSDQ FLPSLEDPLA GMNALAAAAE LPQARPLPSP GAAGAQALEK LEAAESLVLE
QSFLHGITLL SEIAELELER RSQEMGGAER ALVARPSLES LLAAGSHMLR EVLDGPVVDP
LKNLRLPREL KPNKKYSWMR KKEERMYAMK SSLEDMDALE LDFRMRLAEV QRQYKEKQRE
LVKLQRRRDS EDRREEPHRS LARRGPGRPR KRTHAPSALS PPRKRGKSGH SSGKLSSKSL
LTSDDYELGA GIRKRHKGSE EEHDALIGMG KARGRNQTWD EHEASSDFIS QLKIKKKKMA
SDQEQLASKL DKALSLTKQD KLKSPFKFSD SAGGKSKTSG GCGRYLTPYD SLLGKDRKAL
AKGLGLSLKS SREGKHKRAA KTRKMEVGFK ARGQPKSAHS PFASEVSSYS YNTDSEEDEE
FLKDEWPAQG PSSSKLTPSL LCSMVAKNSK AAGGPKLTKR GLAAPRTLKP KPATSRKQPF
CLLLREAEAR SSFSDSSEES FDQDESSEEE DEEEELEEED EASGGGYRLG ARERALSPGL
EESGLGLLAR FAASALPSPT VGPSLSVVQL EAKQKARKKE ERQSLLGTEF EYTDSESEVK
VRKRSPAGLL RPKKGLGEPG PSLAAPTPGA RGPDPSSPDK AKLAVEKGRK ARKLRGPKEP
GFEAGPEASD DDLWTRRRSE RIFLHDASAA APAPVSTAPA TKTSRCAKGG PLSPRKDAGR
AKDRKDPRKK KKGKEAGPGA GLPPPRAPAL PSEARAPHAS SLTAAKRSKA KAKGKEVKKE
NRGKGGAVSK LMESMAAEED FEPNQDSSFS EDEHLPRGGA VERPLTPAPR SCIIDKDELK
DGLRVLIPMD DKLLYAGHVQ TVHSPDIYRV VVEGERGNRP HIYCLEQLLQ EAIIDVRPAS
TRFLPQGTRI AAYWSQQYRC LYPGTVVRGL LDLEDDGDLI TVEFDDGDTG RIPLSHIRLL
PPDYKIQCAE PSPALLVPSA KRRSRKTSKD TGEGKDGGTA GSEEPGAKAR GRGRKPSAKA
KGGRAATLEE GNPTDEVPST PLALEPSSTP GSKKSPPEPV DKRAKAPKAR PAPPQPSPAP
PAFTSCPAPE PFAELPAPAT SLAPAPLITM PATRPKPKKA RAAEESGAKG PRRPGEEAEL
LVKLDHEGVT SPKSKKAKEA LLLREDPGAG GWQEPKSLLS LGSYPPAAGS SEPKAPWPKA
TDGDLAQEPG PGLTFEDSGN PKSPDKAQAE QDGAEESESS SSSSSGSSSS SSSSSSSGSE
TEGEEEGDKN GDGGCGTGGR NCSAASSRAA SPASSSSSSS SSSSSSSSSS SSSSSSSSSS
SSSSSSSSSS SSSSSSSSSS SSSSSSSSSS STTDEDSSCS SDDEAAPAPT AGPSAQAALP
TKATKQAGKA RPSAHSPGKK TPAPQPQAPP PQPTQPLQPK AQAGAKSRPK KREGVHLPTT
KELAKRQRLP SVENRPKIAA FLPARQLWKW FGKPTQRRGM KGKARKLFYK AIVRGKEMIR
IGDCAVFLSA GRPNLPYIGR IQSMWESWGN NMVVRVKWFY HPEETSPGKQ FHQGQHWDQK
SSRSLPAALR VSSQRKDFME RALYQSSHVD ENDVQTVSHK CLVVGLEQYE QMLKTKKYQD
SEGLYYLAGT YEPTTGMIFS TDGVPVLC*

speed

1.32 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: 0.999992282785397 (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)

chr7:5396715T>CN/A show variant in all transcripts IGV

HGNC symbol

TNRC18

Ensembl transcript ID

ENST00000430969

Genbank transcript ID

NM_001080495

UniProt peptide

O15417

alteration type

single base exchange

alteration region

CDS

DNA changes

c.5026A>G
cDNA.5375A>G
g.68331A>G

AA changes

N1676D Score: 23 explain score(s)

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

1676

frameshift

known variant

Reference ID: rs35508364

database	homozygous (C/C)	heterozygous	allele carriers
1000G	412	1041	1453
ExAC	2207	5565	7772

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.364	1
	1.036	1
(flanking)	2.213	1

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 gained	68330	0.74	mu: GGGAAGGACAGGAAG	GAAG\|gaca

distance from splice site

169

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1676

mutated

all conserved

1676

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000008220

555

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000039477

1606

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000005638

n/a

Drerio

not conserved

ENSDARG00000077052

1681

Dmelanogaster

no alignment

FBgn0051151

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007504

1268

protein features

start (aa)	end (aa)	feature	details
1828	1841	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
1857	1857	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2292	2292	CONFLICT	S -> P (in Ref. 4; AAB91447).	might get lost (downstream of altered splice site)
2328	2328	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).	might get lost (downstream of altered splice site)
2353	2437	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2411	2411	CONFLICT	P -> S (in Ref. 4; AAB91447).	might get lost (downstream of altered splice site)
2547	2547	CONFLICT	A -> V (in Ref. 4; AAB91447).	might get lost (downstream of altered splice site)
2557	2681	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)
2817	2962	DOMAIN	BAH.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8907 / 8907

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

2969 / 2969

position of stopcodon in wt / mu cDNA

9256 / 9256

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

350 / 350

chromosome

strand

-1

last intron/exon boundary

9050

theoretical NMD boundary in CDS

8650

length of CDS

8907

coding sequence (CDS) position

5026

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

5375

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

68331

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

5396715

original gDNA sequence snippet

ACGACAGCCTGCTGGGGAAGAACAGGAAGGCGCTGGCCAAG

altered gDNA sequence snippet

ACGACAGCCTGCTGGGGAAGGACAGGAAGGCGCTGGCCAAG

original cDNA sequence snippet

ACGACAGCCTGCTGGGGAAGAACAGGAAGGCGCTGGCCAAG

altered cDNA sequence snippet

ACGACAGCCTGCTGGGGAAGGACAGGAAGGCGCTGGCCAAG

wildtype AA sequence

MDGRDFGPQR SVHGPPPPLL SGLAMDSHRV GAATAGRLPA SGLPGPLPPG KYMAGLNLHP
HPGEAFLGSF VASGMGPSAS SHGSPVPLPS DLSFRSPTPS NLPMVQLWAA HAHEGFSHLP
SGLYPSYLHL NHLEPPSSGS PLLSQLGQPS IFDTQKGQGP GGDGFYLPTA GAPGSLHSHA
PSARTPGGGH SSGAPAKGSS SRDGPAKERA GRGGEPPPLF GKKDPRARGE EASGPRGVVD
LTQEARAEGR QDRGPPRLAE RLSPFLAESK TKNAALQPSV LTMCNGGAGD VGLPALVAEA
GRGGAKEAAR QDEGARLLRR TETLLPGPRP CPSPLPPPPA PPKGPPAPPA ATPAGVYTVF
REQGREHRVV APTFVPSVEA FDERPGPIQI ASQARDARAR EREAGRPGVL QAPPGSPRPL
DRPEGLREKN SVIRSLKRPP PADAPTVRAT RASPDPRAYV PAKELLKPEA DPRPCERAPR
GPAGPAAQQA AKLFGLEPGR PPPTGPEHKW KPFELGNFAA TQMAVLAAQH HHSRAEEEAA
VVAASSSKKA YLDPGAVLPR SAATCGRPVA DMHSAAHGSG EASAMQSLIK YSGSFARDAV
AVRPGGCGKK SPFGGLGTMK PEPAPTSAGA SRAQARLPHS GGPAAGGGRQ LKRDPERPES
AKAFGREGSG AQGEAEVRHP PVGIAVAVAR QKDSGGSGRL GPGLVDQERS LSLSNVKGHG
RADEDCVDDR ARHREERLLG ARLDRDQEKL LRESKELADL ARLHPTSCAP NGLNPNLMVT
GGPALAGSGR WSADPAAHLA THPWLPRSGN ASMWLAGHPY GLGPPSLHQG MAPAFPPGLG
GSLPSAYQFV RDPQSGQLVV IPSDHLPHFA ELMERATVPP LWPALYPPGR SPLHHAQQLQ
LFSQQHFLRQ QEFLYLQQQA AQALELQRSA QLVQERLKAQ EHRAEMEEKG SKRGLEAAGK
AGLATAGPGL LPRKPPGLAA GPAGTYGKAV SPPPSPRASP VAALKAKVIQ KLEDVSKPPA
YAYPATPSSH PTSPPPASPP PTPGITRKEE APENVVEKKD LELEKEAPSP FQALFSDIPP
RYPFQALPPH YGRPYPFLLQ PTAAADADGL APDVPLPADG PERLALSPED KPIRLSPSKI
TEPLREGPEE EPLAEREVKA EVEDMDEGPT ELPPLESPLP LPAAEAMATP SPAGGCGGGL
LEAQALSATG QSCAEPSECP DFVEGPEPRV DSPGRTEPCT AALDLGVQLT PETLVEAKEE
PVEVPVAVPV VEAVPEEGLA QVAPSESQPT LEMSDCDVPA GEGQCPSLEP QEAVPVLGST
CFLEEASSDQ FLPSLEDPLA GMNALAAAAE LPQARPLPSP GAAGAQALEK LEAAESLVLE
QSFLHGITLL SEIAELELER RSQEMGGAER ALVARPSLES LLAAGSHMLR EVLDGPVVDP
LKNLRLPREL KPNKKYSWMR KKEERMYAMK SSLEDMDALE LDFRMRLAEV QRQYKEKQRE
LVKLQRRRDS EDRREEPHRS LARRGPGRPR KRTHAPSALS PPRKRGKSGH SSGKLSSKSL
LTSDDYELGA GIRKRHKGSE EEHDALIGMG KARGRNQTWD EHEASSDFIS QLKIKKKKMA
SDQEQLASKL DKALSLTKQD KLKSPFKFSD SAGGKSKTSG GCGRYLTPYD SLLGKNRKAL
AKGLGLSLKS SREGKHKRAA KTRKMEVGFK ARGQPKSAHS PFASEVSSYS YNTDSEEDEE
FLKDEWPAQG PSSSKLTPSL LCSMVAKNSK AAGGPKLTKR GLAAPRTLKP KPATSRKQPF
CLLLREAEAR SSFSDSSEES FDQDESSEEE DEEEELEEED EASGGGYRLG ARERALSPGL
EESGLGLLAR FAASALPSPT VGPSLSVVQL EAKQKARKKE ERQSLLGTEF EYTDSESEVK
VRKRSPAGLL RPKKGLGEPG PSLAAPTPGA RGPDPSSPDK AKLAVEKGRK ARKLRGPKEP
GFEAGPEASD DDLWTRRRSE RIFLHDASAA APAPVSTAPA TKTSRCAKGG PLSPRKDAGR
AKDRKDPRKK KKGKEAGPGA GLPPPRAPAL PSEARAPHAS SLTAAKRSKA KAKGKEVKKE
NRGKGGAVSK LMESMAAEED FEPNQDSSFS EDEHLPRGGA VERPLTPAPR SCIIDKDELK
DGLRVLIPMD DKLLYAGHVQ TVHSPDIYRV VVEGERGNRP HIYCLEQLLQ EAIIDVRPAS
TRFLPQGTRI AAYWSQQYRC LYPGTVVRGL LDLEDDGDLI TVEFDDGDTG RIPLSHIRLL
PPDYKIQCAE PSPALLVPSA KRRSRKTSKD TGEGKDGGTA GSEEPGAKAR GRGRKPSAKA
KGDRAATLEE GNPTDEVPST PLALEPSSTP GSKKSPPEPV DKRAKAPKAR PAPPQPSPAP
PAFTSCPAPE PFAELPAPAT SLAPAPLITM PATRPKPKKA RAAEESGAKG PRRPGEEAEL
LVKLDHEGVT SPKSKKAKEA LLLREDPGAG GWQEPKSLLS LGSYPPAAGS SEPKAPWPKA
TDGDLAQEPG PGLTFEDSGN PKSPDKAQAE QDGAEESESS SSSSSGSSSS SSSSSSSGSE
TEGEEEGDKN GDGGCGTGGR NCSAASSRAA SPASSSSSSS SSSSSSSSSS SSSSSSSSSS
SSSSSSSSSS SSSSSSSSSS SSSSSSSSSS STTDEDSSCS SDDEAAPAPT AGPSAQAALP
TKATKQAGKA RPSAHSPGKK TPAPQPQAPP PQPTQPLQPK AQAGAKSRPK KREGVHLPTT
KELAKRQRLP SVENRPKIAA FLPARQLWKW FGKPTQRRGM KGKARKLFYK AIVRGKEMIR
IGDCAVFLSA GRPNLPYIGR IQSMWESWGN NMVVRVKWFY HPEETSPGKQ FHQGQHWDQK
SSRSLPAALR VSSQRKDFME RALYQSSHVD ENDVQTVSHK CLVVGLEQYE QMLKTKKYQD
SEGLYYLAGT YEPTTGMIFS TDGVPVLC*

mutated AA sequence

MDGRDFGPQR SVHGPPPPLL SGLAMDSHRV GAATAGRLPA SGLPGPLPPG KYMAGLNLHP
HPGEAFLGSF VASGMGPSAS SHGSPVPLPS DLSFRSPTPS NLPMVQLWAA HAHEGFSHLP
SGLYPSYLHL NHLEPPSSGS PLLSQLGQPS IFDTQKGQGP GGDGFYLPTA GAPGSLHSHA
PSARTPGGGH SSGAPAKGSS SRDGPAKERA GRGGEPPPLF GKKDPRARGE EASGPRGVVD
LTQEARAEGR QDRGPPRLAE RLSPFLAESK TKNAALQPSV LTMCNGGAGD VGLPALVAEA
GRGGAKEAAR QDEGARLLRR TETLLPGPRP CPSPLPPPPA PPKGPPAPPA ATPAGVYTVF
REQGREHRVV APTFVPSVEA FDERPGPIQI ASQARDARAR EREAGRPGVL QAPPGSPRPL
DRPEGLREKN SVIRSLKRPP PADAPTVRAT RASPDPRAYV PAKELLKPEA DPRPCERAPR
GPAGPAAQQA AKLFGLEPGR PPPTGPEHKW KPFELGNFAA TQMAVLAAQH HHSRAEEEAA
VVAASSSKKA YLDPGAVLPR SAATCGRPVA DMHSAAHGSG EASAMQSLIK YSGSFARDAV
AVRPGGCGKK SPFGGLGTMK PEPAPTSAGA SRAQARLPHS GGPAAGGGRQ LKRDPERPES
AKAFGREGSG AQGEAEVRHP PVGIAVAVAR QKDSGGSGRL GPGLVDQERS LSLSNVKGHG
RADEDCVDDR ARHREERLLG ARLDRDQEKL LRESKELADL ARLHPTSCAP NGLNPNLMVT
GGPALAGSGR WSADPAAHLA THPWLPRSGN ASMWLAGHPY GLGPPSLHQG MAPAFPPGLG
GSLPSAYQFV RDPQSGQLVV IPSDHLPHFA ELMERATVPP LWPALYPPGR SPLHHAQQLQ
LFSQQHFLRQ QEFLYLQQQA AQALELQRSA QLVQERLKAQ EHRAEMEEKG SKRGLEAAGK
AGLATAGPGL LPRKPPGLAA GPAGTYGKAV SPPPSPRASP VAALKAKVIQ KLEDVSKPPA
YAYPATPSSH PTSPPPASPP PTPGITRKEE APENVVEKKD LELEKEAPSP FQALFSDIPP
RYPFQALPPH YGRPYPFLLQ PTAAADADGL APDVPLPADG PERLALSPED KPIRLSPSKI
TEPLREGPEE EPLAEREVKA EVEDMDEGPT ELPPLESPLP LPAAEAMATP SPAGGCGGGL
LEAQALSATG QSCAEPSECP DFVEGPEPRV DSPGRTEPCT AALDLGVQLT PETLVEAKEE
PVEVPVAVPV VEAVPEEGLA QVAPSESQPT LEMSDCDVPA GEGQCPSLEP QEAVPVLGST
CFLEEASSDQ FLPSLEDPLA GMNALAAAAE LPQARPLPSP GAAGAQALEK LEAAESLVLE
QSFLHGITLL SEIAELELER RSQEMGGAER ALVARPSLES LLAAGSHMLR EVLDGPVVDP
LKNLRLPREL KPNKKYSWMR KKEERMYAMK SSLEDMDALE LDFRMRLAEV QRQYKEKQRE
LVKLQRRRDS EDRREEPHRS LARRGPGRPR KRTHAPSALS PPRKRGKSGH SSGKLSSKSL
LTSDDYELGA GIRKRHKGSE EEHDALIGMG KARGRNQTWD EHEASSDFIS QLKIKKKKMA
SDQEQLASKL DKALSLTKQD KLKSPFKFSD SAGGKSKTSG GCGRYLTPYD SLLGKDRKAL
AKGLGLSLKS SREGKHKRAA KTRKMEVGFK ARGQPKSAHS PFASEVSSYS YNTDSEEDEE
FLKDEWPAQG PSSSKLTPSL LCSMVAKNSK AAGGPKLTKR GLAAPRTLKP KPATSRKQPF
CLLLREAEAR SSFSDSSEES FDQDESSEEE DEEEELEEED EASGGGYRLG ARERALSPGL
EESGLGLLAR FAASALPSPT VGPSLSVVQL EAKQKARKKE ERQSLLGTEF EYTDSESEVK
VRKRSPAGLL RPKKGLGEPG PSLAAPTPGA RGPDPSSPDK AKLAVEKGRK ARKLRGPKEP
GFEAGPEASD DDLWTRRRSE RIFLHDASAA APAPVSTAPA TKTSRCAKGG PLSPRKDAGR
AKDRKDPRKK KKGKEAGPGA GLPPPRAPAL PSEARAPHAS SLTAAKRSKA KAKGKEVKKE
NRGKGGAVSK LMESMAAEED FEPNQDSSFS EDEHLPRGGA VERPLTPAPR SCIIDKDELK
DGLRVLIPMD DKLLYAGHVQ TVHSPDIYRV VVEGERGNRP HIYCLEQLLQ EAIIDVRPAS
TRFLPQGTRI AAYWSQQYRC LYPGTVVRGL LDLEDDGDLI TVEFDDGDTG RIPLSHIRLL
PPDYKIQCAE PSPALLVPSA KRRSRKTSKD TGEGKDGGTA GSEEPGAKAR GRGRKPSAKA
KGDRAATLEE GNPTDEVPST PLALEPSSTP GSKKSPPEPV DKRAKAPKAR PAPPQPSPAP
PAFTSCPAPE PFAELPAPAT SLAPAPLITM PATRPKPKKA RAAEESGAKG PRRPGEEAEL
LVKLDHEGVT SPKSKKAKEA LLLREDPGAG GWQEPKSLLS LGSYPPAAGS SEPKAPWPKA
TDGDLAQEPG PGLTFEDSGN PKSPDKAQAE QDGAEESESS SSSSSGSSSS SSSSSSSGSE
TEGEEEGDKN GDGGCGTGGR NCSAASSRAA SPASSSSSSS SSSSSSSSSS SSSSSSSSSS
SSSSSSSSSS SSSSSSSSSS SSSSSSSSSS STTDEDSSCS SDDEAAPAPT AGPSAQAALP
TKATKQAGKA RPSAHSPGKK TPAPQPQAPP PQPTQPLQPK AQAGAKSRPK KREGVHLPTT
KELAKRQRLP SVENRPKIAA FLPARQLWKW FGKPTQRRGM KGKARKLFYK AIVRGKEMIR
IGDCAVFLSA GRPNLPYIGR IQSMWESWGN NMVVRVKWFY HPEETSPGKQ FHQGQHWDQK
SSRSLPAALR VSSQRKDFME RALYQSSHVD ENDVQTVSHK CLVVGLEQYE QMLKTKKYQD
SEGLYYLAGT YEPTTGMIFS TDGVPVLC*

speed

0.44 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems