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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000543111
Querying Taster for transcript #2: ENST00000327337
Querying Taster for transcript #3: ENST00000543096
MT speed 1.71 s - this script 4.106089 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FAM186A	polymorphism_automatic	6.21574625603305e-06	simple_aae				H177Y	single base exchange	rs7296291		show file
FAM186A	polymorphism_automatic	6.21574625603305e-06	simple_aae				H2166Y	single base exchange	rs7296291		show file
FAM186A	polymorphism_automatic	6.21574625603305e-06	simple_aae				H2166Y	single base exchange	rs7296291		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999993784253744 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:50744119G>AN/A show variant in all transcripts IGV

HGNC symbol

FAM186A

Ensembl transcript ID

ENST00000543096

Genbank transcript ID

N/A

UniProt peptide

A6NE01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529C>T
cDNA.550C>T
g.46287C>T

AA changes

H177Y Score: 83 explain score(s)

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

177

frameshift

known variant

Reference ID: rs7296291

database	homozygous (A/A)	heterozygous	allele carriers
1000G	959	1113	2072
ExAC	3641	4455	8096

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.072	0.702
	-0.652	0.674
(flanking)	0.454	0.81

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	46289	wt: 0.9319 / mu: 0.9511 (marginal change - not scored)	wt: CAGCATGCCAGGTAG mu: CAGTATGCCAGGTAG	GCAT\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

all conserved

177

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000045350

2853

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1080 / 1080

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

360 / 360

position of stopcodon in wt / mu cDNA

1101 / 1101

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

22 / 22

chromosome

strand

-1

last intron/exon boundary

1089

theoretical NMD boundary in CDS

1017

length of CDS

1080

coding sequence (CDS) position

529

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

550

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

46287

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

50744119

original gDNA sequence snippet

TTGCCTATAGGCTGATCCAGCATGCCAGGTAGATATAATTA

altered gDNA sequence snippet

TTGCCTATAGGCTGATCCAGTATGCCAGGTAGATATAATTA

original cDNA sequence snippet

TTGCCTATAGGCTGATCCAGCATGCCAGGAACAACATAATG

altered cDNA sequence snippet

TTGCCTATAGGCTGATCCAGTATGCCAGGAACAACATAATG

wildtype AA sequence

MSEVSDTSEE TQILRDTFAI ESFRTFQSHF TKYRTPVYQT PYTDERALLT LMKPTTSPSS
LTTLLRTSQI SPLEWYQKSR FPPIDKPWIL SSVSDTKKPK VMVPPSSPQE LEEKRYFVDV
EAQKKNLILL NQAIKTCGLP SQLHTMARTL IIEILHMDTV QLGYLFRKYI AYRLIQHARN
NIMKRLKAIQ NTGKGYEARN LHMMLSRLDD YGKKVMQVWT EKQKSLGQKR NQCLKKMIHV
FNQLKKIHEL NLSQPIPLII EEKQIPASTT FVQKPFLKLL MEEDRTSDIC KKFRQQEDQT
EAIWNVDLST SSYPIAEKTS MHSLWAQLGG YPDIPRLLQL EVQSTFRKSL ASLQSRSSG*

mutated AA sequence

MSEVSDTSEE TQILRDTFAI ESFRTFQSHF TKYRTPVYQT PYTDERALLT LMKPTTSPSS
LTTLLRTSQI SPLEWYQKSR FPPIDKPWIL SSVSDTKKPK VMVPPSSPQE LEEKRYFVDV
EAQKKNLILL NQAIKTCGLP SQLHTMARTL IIEILHMDTV QLGYLFRKYI AYRLIQYARN
NIMKRLKAIQ NTGKGYEARN LHMMLSRLDD YGKKVMQVWT EKQKSLGQKR NQCLKKMIHV
FNQLKKIHEL NLSQPIPLII EEKQIPASTT FVQKPFLKLL MEEDRTSDIC KKFRQQEDQT
EAIWNVDLST SSYPIAEKTS MHSLWAQLGG YPDIPRLLQL EVQSTFRKSL ASLQSRSSG*

speed

0.87 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: 0.999993784253744 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:50744119G>AN/A show variant in all transcripts IGV

HGNC symbol

FAM186A

Ensembl transcript ID

ENST00000543111

Genbank transcript ID

N/A

UniProt peptide

A6NE01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.6496C>T
cDNA.6634C>T
g.46287C>T

AA changes

H2166Y Score: 83 explain score(s)

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

2166

frameshift

known variant

Reference ID: rs7296291

database	homozygous (A/A)	heterozygous	allele carriers
1000G	959	1113	2072
ExAC	3641	4455	8096

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.072	0.702
	-0.652	0.674
(flanking)	0.454	0.81

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	46289	wt: 0.9319 / mu: 0.9511 (marginal change - not scored)	wt: CAGCATGCCAGGTAG mu: CAGTATGCCAGGTAG	GCAT\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2166

mutated

all conserved

2166

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000045350

2853

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7047 / 7047

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

2349 / 2349

position of stopcodon in wt / mu cDNA

7185 / 7185

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

139 / 139

chromosome

strand

-1

last intron/exon boundary

7173

theoretical NMD boundary in CDS

6984

length of CDS

7047

coding sequence (CDS) position

6496

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

6634

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

46287

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

50744119

original gDNA sequence snippet

TTGCCTATAGGCTGATCCAGCATGCCAGGTAGATATAATTA

altered gDNA sequence snippet

TTGCCTATAGGCTGATCCAGTATGCCAGGTAGATATAATTA

original cDNA sequence snippet

TTGCCTATAGGCTGATCCAGCATGCCAGGAACAACATAATG

altered cDNA sequence snippet

TTGCCTATAGGCTGATCCAGTATGCCAGGAACAACATAATG

wildtype AA sequence

MFFKMKNEID NDPESEKCIK DSTIMRREPQ NILSPLMLPN LEIPFSVKDI ISRIERAQLH
RAREDIDMQL SEIMNNVHRI MTRYTLVFNS SSERNVSLTE HKKKQRTNFL EKMATYAKTI
EIREKTLANI LAWLEEWNDV LSEMTLMDVD EHHHWIAQME LLPDTLKAIE NNVKILSRFS
TSFLDEKKKQ KKKILSRGTL WKSWKERVIK RPSTARALRP DQMISDQLAT NTKVSEIQGM
LQELIGTTMF STLENNAIKY ISSTIVNLST ALSMLNDELK CVNFQSSTVY AHETSEAEKE
LSLKIIRDLS NENEMLQQKL QDAEEKCEQL IRSKIVIEQL YAKLSTSSTL KVLPGPSPQS
SRAIIKVGDT EDNMDNILDK ELENIVDEVQ RKETKDSGIK WDSTISYTAQ AERTPDLTEL
RQQPVASEDI SEDSTKDNVS LKKGDFYQED ETDEYQSWKR SHKKATYVYE TSGPNLSDNK
SGQKVSEAKP SQYYELQVLK KKRKEMKSFS EDKSKSPTEA KRKHLSLTET KSQGGKSGTS
MMMLEQFRKV KRESPFDKRP TAAEIKVEPT TESLDKEGKG EIRSLVEPLS MIQFDDTAEP
QKGKIKGKKH HISSGTITSK EEKTEEKEEL TKQVKSHQLV KSLSRVAKET SESTRVLESP
DGKSEQSNLE EFQEAIMAFL KQKIDNIGKA FDKKTVPKEE ELLKRAEAEK LGIIKAKMEE
YFQKVAETVT KILRKYKDTK KEEQVGEKPI KQKKVVSFMP GLHFQKSPIS AKSESSTLLS
YESTDPVINN LIQMILAEIE SERDIPTVST VQKDHKEKEK QRQEQYLQEG QEQMSGMSLK
QQLLGERNLL KEHYEKISEN WEEKKAWLQM KEGKQEQQSQ KQWQEEEMWK EEQKQATPKQ
AEQEEKQKQR GQEEEELPKS SLQRLEEGTQ KMKTQGLLLE KENGQMRQIQ KEAKHLGPHR
RREKGKEKQK PERGLEDLER QIKTKDQMQM KETQPKELEK MVIQTPMTLS PRWKSVLKDV
QRSYEGKEFQ RNLKTLENLP DEKEPISITP PPSLQYSLPG ALPISGQPLT KCIHLTPQQA
QEVGITLTPQ QAQAQGITLT LQQAQELGIP LTPQQAQALE ILFTPQQAQA LGIPLTPQQT
QVQGITLTPQ QDQAPGISLT TQQAQKLGIP LTPQQAQALG IPLTPQQAQE LGIPLTPQQA
QALRVSLTPQ QAQELGIPLT PQQAQALGIT LTLQQAQQLG IPLTPQQAQA LGITLTPKQV
QELGIPLTPQ QAQALGITLT PKQAQELGIP LNPQQAQTLG IPLTPKQAQA LGIPFTPQQA
QALGIPLTPQ QAQTQEITLT PQQAQALGMP LTTQQAQELG IPLTPQHAQA LGMPLTTQQA
QELGIPLTPQ QAQALGMPLT TQQAQELGIP LTPQQAQELG IPFTPQQAQA QEITLTPQQA
QALGMPLTAQ QAQELGITLT PQQAQELGIP LTPQQAQALG IPLIPPQAQE LGIPLTPQQA
QALGILLIPP QAQELGIPLT PQQAQALGIP LIPPQAQELG IPLTPQQVQA LGIPLIPPQA
QELEIPLTPQ QAQALGIPLT PQQAQELGIP LTPQQAQELG IPLTPQQAQA QGIPLTPQQA
QALGISLTPQ QAQAQGITLT PQQAQALGVP ITPVNAWVSA VTLTSEQTHA LESPMNLEQA
QEQLLKLGVP LTLDKAHTLG SPLTLKQVQW SHRPFQKSKA SLPTGQSIIS RLSPSLRLSL
ASSAPTAEKS SIFGVSSTPL QISRVPLNQG PFAPGKPLEM GILSEPGKLG APQTLRSSGQ
TLVYGGQSTS AQFPAPQAPP SPGQLPISRA PPTPGQPFIA GVPPTSGQIP SLWAPLSPGQ
PLVPEASSIP GDLLESGPLT FSEQLQEFQP PATAEQSPYL QAPSTPGQHL ATWTLPGRAS
SLWIPPTSRH PPTLWPSPAP GKPQKSWSPS VAKKRLAIIS SLKSKSVLIH PSAPDFKVAQ
VPFTTKKFQM SEVSDTSEET QILRDTFAIE SFRTFQSHFT KYRTPVYQTP YTDERALLTL
MKPTTSPSSL TTLLRTSQIS PLEWYQKSRF PPIDKPWILS SVSDTKKPKV MVPPSSPQEL
EEKRYFVDVE AQKKNLILLN QAIKTCGLPS QLHTMARTLI IEILHMDTVQ LGYLFRKYIA
YRLIQHARNN IMKRLKAIQN TGKGYEARNL HMMLSRLDDY GKKVMQVWTE KQKSLGQKRN
QCLKKMIHVF NQLKKIHELN LSQPIPLIIE EKQIPASTTF VQKPFLKLLM EEDRTSDICK
KFRQQEDQTE AIWNVDLSTS SYPIAEKTSM HSLWAQLGGY PDIPRLLQLE VQSTFRKSLA
SLQSRSSG*

mutated AA sequence

MFFKMKNEID NDPESEKCIK DSTIMRREPQ NILSPLMLPN LEIPFSVKDI ISRIERAQLH
RAREDIDMQL SEIMNNVHRI MTRYTLVFNS SSERNVSLTE HKKKQRTNFL EKMATYAKTI
EIREKTLANI LAWLEEWNDV LSEMTLMDVD EHHHWIAQME LLPDTLKAIE NNVKILSRFS
TSFLDEKKKQ KKKILSRGTL WKSWKERVIK RPSTARALRP DQMISDQLAT NTKVSEIQGM
LQELIGTTMF STLENNAIKY ISSTIVNLST ALSMLNDELK CVNFQSSTVY AHETSEAEKE
LSLKIIRDLS NENEMLQQKL QDAEEKCEQL IRSKIVIEQL YAKLSTSSTL KVLPGPSPQS
SRAIIKVGDT EDNMDNILDK ELENIVDEVQ RKETKDSGIK WDSTISYTAQ AERTPDLTEL
RQQPVASEDI SEDSTKDNVS LKKGDFYQED ETDEYQSWKR SHKKATYVYE TSGPNLSDNK
SGQKVSEAKP SQYYELQVLK KKRKEMKSFS EDKSKSPTEA KRKHLSLTET KSQGGKSGTS
MMMLEQFRKV KRESPFDKRP TAAEIKVEPT TESLDKEGKG EIRSLVEPLS MIQFDDTAEP
QKGKIKGKKH HISSGTITSK EEKTEEKEEL TKQVKSHQLV KSLSRVAKET SESTRVLESP
DGKSEQSNLE EFQEAIMAFL KQKIDNIGKA FDKKTVPKEE ELLKRAEAEK LGIIKAKMEE
YFQKVAETVT KILRKYKDTK KEEQVGEKPI KQKKVVSFMP GLHFQKSPIS AKSESSTLLS
YESTDPVINN LIQMILAEIE SERDIPTVST VQKDHKEKEK QRQEQYLQEG QEQMSGMSLK
QQLLGERNLL KEHYEKISEN WEEKKAWLQM KEGKQEQQSQ KQWQEEEMWK EEQKQATPKQ
AEQEEKQKQR GQEEEELPKS SLQRLEEGTQ KMKTQGLLLE KENGQMRQIQ KEAKHLGPHR
RREKGKEKQK PERGLEDLER QIKTKDQMQM KETQPKELEK MVIQTPMTLS PRWKSVLKDV
QRSYEGKEFQ RNLKTLENLP DEKEPISITP PPSLQYSLPG ALPISGQPLT KCIHLTPQQA
QEVGITLTPQ QAQAQGITLT LQQAQELGIP LTPQQAQALE ILFTPQQAQA LGIPLTPQQT
QVQGITLTPQ QDQAPGISLT TQQAQKLGIP LTPQQAQALG IPLTPQQAQE LGIPLTPQQA
QALRVSLTPQ QAQELGIPLT PQQAQALGIT LTLQQAQQLG IPLTPQQAQA LGITLTPKQV
QELGIPLTPQ QAQALGITLT PKQAQELGIP LNPQQAQTLG IPLTPKQAQA LGIPFTPQQA
QALGIPLTPQ QAQTQEITLT PQQAQALGMP LTTQQAQELG IPLTPQHAQA LGMPLTTQQA
QELGIPLTPQ QAQALGMPLT TQQAQELGIP LTPQQAQELG IPFTPQQAQA QEITLTPQQA
QALGMPLTAQ QAQELGITLT PQQAQELGIP LTPQQAQALG IPLIPPQAQE LGIPLTPQQA
QALGILLIPP QAQELGIPLT PQQAQALGIP LIPPQAQELG IPLTPQQVQA LGIPLIPPQA
QELEIPLTPQ QAQALGIPLT PQQAQELGIP LTPQQAQELG IPLTPQQAQA QGIPLTPQQA
QALGISLTPQ QAQAQGITLT PQQAQALGVP ITPVNAWVSA VTLTSEQTHA LESPMNLEQA
QEQLLKLGVP LTLDKAHTLG SPLTLKQVQW SHRPFQKSKA SLPTGQSIIS RLSPSLRLSL
ASSAPTAEKS SIFGVSSTPL QISRVPLNQG PFAPGKPLEM GILSEPGKLG APQTLRSSGQ
TLVYGGQSTS AQFPAPQAPP SPGQLPISRA PPTPGQPFIA GVPPTSGQIP SLWAPLSPGQ
PLVPEASSIP GDLLESGPLT FSEQLQEFQP PATAEQSPYL QAPSTPGQHL ATWTLPGRAS
SLWIPPTSRH PPTLWPSPAP GKPQKSWSPS VAKKRLAIIS SLKSKSVLIH PSAPDFKVAQ
VPFTTKKFQM SEVSDTSEET QILRDTFAIE SFRTFQSHFT KYRTPVYQTP YTDERALLTL
MKPTTSPSSL TTLLRTSQIS PLEWYQKSRF PPIDKPWILS SVSDTKKPKV MVPPSSPQEL
EEKRYFVDVE AQKKNLILLN QAIKTCGLPS QLHTMARTLI IEILHMDTVQ LGYLFRKYIA
YRLIQYARNN IMKRLKAIQN TGKGYEARNL HMMLSRLDDY GKKVMQVWTE KQKSLGQKRN
QCLKKMIHVF NQLKKIHELN LSQPIPLIIE EKQIPASTTF VQKPFLKLLM EEDRTSDICK
KFRQQEDQTE AIWNVDLSTS SYPIAEKTSM HSLWAQLGGY PDIPRLLQLE VQSTFRKSLA
SLQSRSSG*

speed

0.41 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999993784253744 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:50744119G>AN/A show variant in all transcripts IGV

HGNC symbol

FAM186A

Ensembl transcript ID

ENST00000327337

Genbank transcript ID

NM_001145475

UniProt peptide

A6NE01

alteration type

single base exchange

alteration region

CDS

DNA changes

c.6496C>T
cDNA.6496C>T
g.46287C>T

AA changes

H2166Y Score: 83 explain score(s)

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

2166

frameshift

known variant

Reference ID: rs7296291

database	homozygous (A/A)	heterozygous	allele carriers
1000G	959	1113	2072
ExAC	3641	4455	8096

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.072	0.702
	-0.652	0.674
(flanking)	0.454	0.81

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	46289	wt: 0.9319 / mu: 0.9511 (marginal change - not scored)	wt: CAGCATGCCAGGTAG mu: CAGTATGCCAGGTAG	GCAT\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2166

mutated

all conserved

2166

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000045350

2853

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7056 / 7056

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

2352 / 2352

position of stopcodon in wt / mu cDNA

7056 / 7056

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

7035

theoretical NMD boundary in CDS

6984

length of CDS

7056

coding sequence (CDS) position

6496

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

6496

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

46287

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

50744119

original gDNA sequence snippet

TTGCCTATAGGCTGATCCAGCATGCCAGGTAGATATAATTA

altered gDNA sequence snippet

TTGCCTATAGGCTGATCCAGTATGCCAGGTAGATATAATTA

original cDNA sequence snippet

TTGCCTATAGGCTGATCCAGCATGCCAGGAACAACATAATG

altered cDNA sequence snippet

TTGCCTATAGGCTGATCCAGTATGCCAGGAACAACATAATG

wildtype AA sequence

mutated AA sequence

MFFKMKNEID NDPESEKCIK DSTIMRREPQ NILSPLMLPN LEIPFSVKDI ISRIERAQLH
RAREDIDMQL SEIMNNVHRI MTRYTLVFNS SSERNVSLTE HKKKQRTNFL EKMATYAKTI
EIREKTLANI LAWLEEWNDV LSEMTLMDVD EHHHWIAQME LLPDTLKAIE NNVKILSRFS
TSFLDEKKKQ KKKILSRGTL WKSWKERVIK RPSTARALRP DQMISDQLAT NTKVSEIQGM
LQELIGTTMF STLENNAIKY ISSTIVNLST ALSMLNDELK CVNFQSSTVY AHETSEAEKE
LSLKIIRDLS NENEMLQQKL QDAEEKCEQL IRSKIVIEQL YAKLSTSSTL KVLPGPSPQS
SRAIIKVGDT EDNMDNILDK ELENIVDEVQ RKETKDSGIK WDSTISYTAQ AERTPDLTEL
RQQPVASEDI SEDSTKDNVS LKKGDFYQED ETDEYQSWKR SHKKATYVYE TSGPNLSDNK
SGQKVSEAKP SQYYELQVLK KKRKEMKSFS EDKSKSPTEA KRKHLSLTET KSQGGKSGTS
MMMLEQFRKV KRESPFDKRP TAAEIKVEPT TESLDKEGKG EIRSLVEPLS MIQFDDTAEP
QKGKIKGKKH HISSGTITSK EEKTEEKEEL TKQVKSHQLV KSLSRVAKET SESTRVLESP
DGKSEQSNLE EFQEAIMAFL KQKIDNIGKA FDKKTVPKEE ELLKRAEAEK LGIIKAKMEE
YFQKVAETVT KILRKYKDTK KEEQVGEKPI KQKKVVSFMP GLHFQKSPIS AKSESSTLLS
YESTDPVINN LIQMILAEIE SERDIPTVST VQKDHKEKEK QRQEQYLQEG QEQMSGMSLK
QQLLGERNLL KEHYEKISEN WEEKKAWLQM KEGKQEQQSQ KQWQEEEMWK EEQKQATPKQ
AEQEEKQKQR GQEEEELPKS SLQRLEEGTQ KMKTQGLLLE KENGQMRQIQ KEAKHLGPHR
RREKGKEKQK PERGLEDLER QIKTKDQMQM KETQPKELEK MVIQTPMTLS PRWKSVLKDV
QRSYEGKEFQ RNLKTLENLP DEKEPISITP PPSLQYSLPG ALPISGQPLT KCIHLTPQQA
QEVGITLTPQ QAQAQGITLT LQQAQELGIP LTPQQAQALE ILFTPQQAQA LGIPLTPQQT
QVQGITLTPQ QDQAPGISLT TQQAQKLGIP LTPQQAQALG IPLTPQQAQE LGIPLTPQQA
QALRVSLTPQ QAQELGIPLT PQQAQALGIT LTLQQAQQLG IPLTPQQAQA LGITLTPKQV
QELGIPLTPQ QAQALGITLT PKQAQELGIP LNPQQAQTLG IPLTPKQAQA LGIPFTPQQA
QALGIPLTPQ QAQTQEITLT PQQAQALGMP LTTQQAQELG IPLTPQHAQA LGMPLTTQQA
QELGIPLTPQ QAQALGMPLT TQQAQELGIP LTPQQAQELG IPFTPQQAQA QEITLTPQQA
QALGMPLTAQ QAQELGITLT PQQAQELGIP LTPQQAQALG IPLIPPQAQE LGIPLTPQQA
QALGILLIPP QAQELGIPLT PQQAQALGIP LIPPQAQELG IPLTPQQVQA LGIPLIPPQA
QELEIPLTPQ QAQALGIPLT PQQAQELGIP LTPQQAQELG IPLTPQQAQA QGIPLTPQQA
QALGISLTPQ QAQAQGITLT PQQAQALGVP ITPVNAWVSA VTLTSEQTHA LESPMNLEQA
QEQLLKLGVP LTLDKAHTLG SPLTLKQVQW SHRPFQKSKA SLPTGQSIIS RLSPSLRLSL
ASSAPTAEKS SIFGVSSTPL QISRVPLNQG PFAPGKPLEM GILSEPGKLG APQTLRSSGQ
TLVYGGQSTS AQFPAPQAPP SPGQLPISRA PPTPGQPFIA GVPPTSGQIP SLWAPLSPGQ
PLVPEASSIP GDLLESGPLT FSEQLQEFQP PATAEQSPYL QAPSTPGQHL ATWTLPGRAS
SLWIPPTSRH PPTLWPSPAP GKPQKSWSPS VAKKRLAIIS SLKSKSVLIH PSAPDFKVAQ
VPFTTKKFQM SEVSDTSEET QILRDTFAIE SFRTFQSHFT KYRTPVYQTP YTDERALLTL
MKPTTSPSSL TTLLRTSQIS PLEWYQKSRF PPIDKPWILS SVSDTKKPKV MVPPSSPQEL
EEKRYFVDVE AQKKNLILLN QAIKTCGLPS QLHTMARTLI IEILHMDTVQ LGYLFRKYIA
YRLIQYARNN IMKRLKAIQN TGKGYEARNL HMMLSRLDDY GKKVMQVWTE KQKSLGQKRN
QCLKKMIHVF NQLKKIHELN LSQPIPLIIE EKQIPASTTF VQKPFLKLLM EEDRTSDICK
KFRQQEDQTE AIWNVDLSTS SYPIAEKTSM HSLWAQLGGY PDIPRLLQLE VQSTFRKSLA
SLQSRVKKIP K*

speed

0.43 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems