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: ENST00000490799
Querying Taster for transcript #2: ENST00000394602
Querying Taster for transcript #3: ENST00000355574
MT speed 0 s - this script 3.788204 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SLC26A8	polymorphism_automatic	4.9960036108132e-15	simple_aae		affected		I534V	single base exchange	rs2295852		show file
SLC26A8	polymorphism_automatic	7.99360577730113e-15	simple_aae		affected		I639V	single base exchange	rs2295852		show file
SLC26A8	polymorphism_automatic	7.99360577730113e-15	simple_aae		affected		I639V	single base exchange	rs2295852		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999995 (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)

chr6:35923246T>CN/A show variant in all transcripts IGV

HGNC symbol

SLC26A8

Ensembl transcript ID

ENST00000394602

Genbank transcript ID

NM_138718

UniProt peptide

Q96RN1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1600A>G
cDNA.1766A>G
g.69400A>G

AA changes

I534V Score: 29 explain score(s)

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

534

frameshift

known variant

Reference ID: rs2295852

database	homozygous (C/C)	heterozygous	allele carriers
1000G	519	1003	1522
ExAC	8012	16743	24755

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.644	0.003
	-0.966	0
(flanking)	-0.566	0.005

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 increased	69404	wt: 0.34 / mu: 0.44	wt: CATTAACCTGATTCA mu: CGTTAACCTGATTCA	TTAA\|cctg
Donor gained	69399	0.62	mu: TCCTCCGTTAACCTG	CTCC\|gtta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

534

mutated

all conserved

534

Ptroglodytes

all conserved

ENSPTRG00000018095

639

Mmulatta

all conserved

ENSMMUG00000008442

626

Fcatus

no alignment

ENSFCAG00000014824

n/a

Mmusculus

all identical

ENSMUSG00000036196

637

Ggallus

not conserved

ENSGALG00000000844

576

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
519	970	TOPO_DOM	Cytoplasmic (Potential).	lost
543	795	DOMAIN	STAS.	might get lost (downstream of altered splice site)
560	560	CONFLICT	S -> C (in Ref. 3; AAL26868/AAO26699).	might get lost (downstream of altered splice site)
664	970	REGION	Interaction with RACGAP1.	might get lost (downstream of altered splice site)
914	914	MUTAGEN	P->S: Not a cause of male infertility.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2598 / 2598

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

866 / 866

position of stopcodon in wt / mu cDNA

2764 / 2764

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

167 / 167

chromosome

strand

-1

last intron/exon boundary

2324

theoretical NMD boundary in CDS

2107

length of CDS

2598

coding sequence (CDS) position

1600

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

1766

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

69400

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

35923246

original gDNA sequence snippet

TGGATCCCGAAGCATCCTCCATTAACCTGATTCACTGCTCA

altered gDNA sequence snippet

TGGATCCCGAAGCATCCTCCGTTAACCTGATTCACTGCTCA

original cDNA sequence snippet

TGGATCCCGAAGCATCCTCCATTAACCTGATTCACTGCTCA

altered cDNA sequence snippet

TGGATCCCGAAGCATCCTCCGTTAACCTGATTCACTGCTCA

wildtype AA sequence

MAQLERSAIS GFSSKSRRNS FAYDVKREVY NEETFQQEHK RKASSSGNMN INITTFRHHV
QCRCSWHRFL RCVLTIFPFL EWMCMYRLKD WLLGDLLAGI SVGLVQVPQG LTLSLLARQL
IPPLNIAYAA FCSSVIYVIF GSCHQMSIGS FFLVSALLIN VLKVSPFNNG QLVMGSFVKN
EFSAPSYLMG YNKSLSVVAT TTFLTGIIQI IGFTVIANKI SMATETSQTL IDMIPYSFLL
PVTPDFSLLP KIILQAFSLS LVSSFLLIFL GKKIASLHNY SVNSNQDLIA IGLCNVVSSF
FRSCVFTGAI ARTIIQDKSG GRQQFASLVG AGVMLLLMVK MGHFFYTLPN AVLAGIILSN
VIPYLETISN LPSLWRQDQY DCALWMMTFS SSIFLGLDIG LIISVVSAFF ITTVRSHRAK
ILLLGQIPNT NIYRSINDYR EIITIPGVKI FQCCSSITFV NVYYLKHKLL KEVDMVKVPL
KEEEIFSLFN SSDTNLQGGK ICRCFCNCDD LEPLPRILYT ERFENKLDPE ASSINLIHCS
HFESMNTSQT ASEDQVPYTV SSVSQKNQGQ QYEEVEEVWL PNNSSRNSSP GLPDVAESQG
RRSLIPYSDA SLLPSVHTII LDFSMVHYVD SRGLVVLRQI CNAFQNANIL ILIAGCHSSI
VRAFERNDFF DAGITKTQLF LSVHDAVLFA LSRKVIGSSE LSIDESETVI RETYSETDKN
DNSRYKMSSS FLGSQKNVSP GFIKIQQPVE EESELDLELE SEQEAGLGLD LDLDRELEPE
MEPKAETETK TQTEMEPQPE TEPEMEPNPK SRPRAHTFPQ QRYWPMYHPS MASTQSQTQT
RTWSVERRRH PMDSYSPEGN SNEDV*

mutated AA sequence

MAQLERSAIS GFSSKSRRNS FAYDVKREVY NEETFQQEHK RKASSSGNMN INITTFRHHV
QCRCSWHRFL RCVLTIFPFL EWMCMYRLKD WLLGDLLAGI SVGLVQVPQG LTLSLLARQL
IPPLNIAYAA FCSSVIYVIF GSCHQMSIGS FFLVSALLIN VLKVSPFNNG QLVMGSFVKN
EFSAPSYLMG YNKSLSVVAT TTFLTGIIQI IGFTVIANKI SMATETSQTL IDMIPYSFLL
PVTPDFSLLP KIILQAFSLS LVSSFLLIFL GKKIASLHNY SVNSNQDLIA IGLCNVVSSF
FRSCVFTGAI ARTIIQDKSG GRQQFASLVG AGVMLLLMVK MGHFFYTLPN AVLAGIILSN
VIPYLETISN LPSLWRQDQY DCALWMMTFS SSIFLGLDIG LIISVVSAFF ITTVRSHRAK
ILLLGQIPNT NIYRSINDYR EIITIPGVKI FQCCSSITFV NVYYLKHKLL KEVDMVKVPL
KEEEIFSLFN SSDTNLQGGK ICRCFCNCDD LEPLPRILYT ERFENKLDPE ASSVNLIHCS
HFESMNTSQT ASEDQVPYTV SSVSQKNQGQ QYEEVEEVWL PNNSSRNSSP GLPDVAESQG
RRSLIPYSDA SLLPSVHTII LDFSMVHYVD SRGLVVLRQI CNAFQNANIL ILIAGCHSSI
VRAFERNDFF DAGITKTQLF LSVHDAVLFA LSRKVIGSSE LSIDESETVI RETYSETDKN
DNSRYKMSSS FLGSQKNVSP GFIKIQQPVE EESELDLELE SEQEAGLGLD LDLDRELEPE
MEPKAETETK TQTEMEPQPE TEPEMEPNPK SRPRAHTFPQ QRYWPMYHPS MASTQSQTQT
RTWSVERRRH PMDSYSPEGN SNEDV*

speed

0.68 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: 0.999999999999992 (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)

chr6:35923246T>CN/A show variant in all transcripts IGV

HGNC symbol

SLC26A8

Ensembl transcript ID

ENST00000490799

Genbank transcript ID

NM_052961

UniProt peptide

Q96RN1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1915A>G
cDNA.2269A>G
g.69400A>G

AA changes

I639V Score: 29 explain score(s)

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

639

frameshift

known variant

Reference ID: rs2295852

database	homozygous (C/C)	heterozygous	allele carriers
1000G	519	1003	1522
ExAC	8012	16743	24755

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.644	0.003
	-0.966	0
(flanking)	-0.566	0.005

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 increased	69404	wt: 0.34 / mu: 0.44	wt: CATTAACCTGATTCA mu: CGTTAACCTGATTCA	TTAA\|cctg
Donor gained	69399	0.62	mu: TCCTCCGTTAACCTG	CTCC\|gtta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

639

mutated

all conserved

639

Ptroglodytes

all conserved

ENSPTRG00000018095

639

Mmulatta

all conserved

ENSMMUG00000008442

629

Fcatus

no alignment

ENSFCAG00000014824

n/a

Mmusculus

all identical

ENSMUSG00000036196

637

Ggallus

not conserved

ENSGALG00000000844

577

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
519	970	TOPO_DOM	Cytoplasmic (Potential).	lost
543	795	DOMAIN	STAS.	lost
664	970	REGION	Interaction with RACGAP1.	might get lost (downstream of altered splice site)
914	914	MUTAGEN	P->S: Not a cause of male infertility.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2913 / 2913

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

971 / 971

position of stopcodon in wt / mu cDNA

3267 / 3267

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

355 / 355

chromosome

strand

-1

last intron/exon boundary

2827

theoretical NMD boundary in CDS

2422

length of CDS

2913

coding sequence (CDS) position

1915

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

2269

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

69400

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

35923246

original gDNA sequence snippet

TGGATCCCGAAGCATCCTCCATTAACCTGATTCACTGCTCA

altered gDNA sequence snippet

TGGATCCCGAAGCATCCTCCGTTAACCTGATTCACTGCTCA

original cDNA sequence snippet

TGGATCCCGAAGCATCCTCCATTAACCTGATTCACTGCTCA

altered cDNA sequence snippet

TGGATCCCGAAGCATCCTCCGTTAACCTGATTCACTGCTCA

wildtype AA sequence

MAQLERSAIS GFSSKSRRNS FAYDVKREVY NEETFQQEHK RKASSSGNMN INITTFRHHV
QCRCSWHRFL RCVLTIFPFL EWMCMYRLKD WLLGDLLAGI SVGLVQVPQG LTLSLLARQL
IPPLNIAYAA FCSSVIYVIF GSCHQMSIGS FFLVSALLIN VLKVSPFNNG QLVMGSFVKN
EFSAPSYLMG YNKSLSVVAT TTFLTGIIQL IMGVLGLGFI ATYLPESAMS AYLAAVALHI
MLSQLTFIFG IMISFHAGPI SFFYDIINYC VALPKANSTS ILVFLTVVVA LRINKCIRIS
FNQYPIEFPM ELFLIIGFTV IANKISMATE TSQTLIDMIP YSFLLPVTPD FSLLPKIILQ
AFSLSLVSSF LLIFLGKKIA SLHNYSVNSN QDLIAIGLCN VVSSFFRSCV FTGAIARTII
QDKSGGRQQF ASLVGAGVML LLMVKMGHFF YTLPNAVLAG IILSNVIPYL ETISNLPSLW
RQDQYDCALW MMTFSSSIFL GLDIGLIISV VSAFFITTVR SHRAKILLLG QIPNTNIYRS
INDYREIITI PGVKIFQCCS SITFVNVYYL KHKLLKEVDM VKVPLKEEEI FSLFNSSDTN
LQGGKICRCF CNCDDLEPLP RILYTERFEN KLDPEASSIN LIHCSHFESM NTSQTASEDQ
VPYTVSSVSQ KNQGQQYEEV EEVWLPNNSS RNSSPGLPDV AESQGRRSLI PYSDASLLPS
VHTIILDFSM VHYVDSRGLV VLRQICNAFQ NANILILIAG CHSSIVRAFE RNDFFDAGIT
KTQLFLSVHD AVLFALSRKV IGSSELSIDE SETVIRETYS ETDKNDNSRY KMSSSFLGSQ
KNVSPGFIKI QQPVEEESEL DLELESEQEA GLGLDLDLDR ELEPEMEPKA ETETKTQTEM
EPQPETEPEM EPNPKSRPRA HTFPQQRYWP MYHPSMASTQ SQTQTRTWSV ERRRHPMDSY
SPEGNSNEDV *

mutated AA sequence

MAQLERSAIS GFSSKSRRNS FAYDVKREVY NEETFQQEHK RKASSSGNMN INITTFRHHV
QCRCSWHRFL RCVLTIFPFL EWMCMYRLKD WLLGDLLAGI SVGLVQVPQG LTLSLLARQL
IPPLNIAYAA FCSSVIYVIF GSCHQMSIGS FFLVSALLIN VLKVSPFNNG QLVMGSFVKN
EFSAPSYLMG YNKSLSVVAT TTFLTGIIQL IMGVLGLGFI ATYLPESAMS AYLAAVALHI
MLSQLTFIFG IMISFHAGPI SFFYDIINYC VALPKANSTS ILVFLTVVVA LRINKCIRIS
FNQYPIEFPM ELFLIIGFTV IANKISMATE TSQTLIDMIP YSFLLPVTPD FSLLPKIILQ
AFSLSLVSSF LLIFLGKKIA SLHNYSVNSN QDLIAIGLCN VVSSFFRSCV FTGAIARTII
QDKSGGRQQF ASLVGAGVML LLMVKMGHFF YTLPNAVLAG IILSNVIPYL ETISNLPSLW
RQDQYDCALW MMTFSSSIFL GLDIGLIISV VSAFFITTVR SHRAKILLLG QIPNTNIYRS
INDYREIITI PGVKIFQCCS SITFVNVYYL KHKLLKEVDM VKVPLKEEEI FSLFNSSDTN
LQGGKICRCF CNCDDLEPLP RILYTERFEN KLDPEASSVN LIHCSHFESM NTSQTASEDQ
VPYTVSSVSQ KNQGQQYEEV EEVWLPNNSS RNSSPGLPDV AESQGRRSLI PYSDASLLPS
VHTIILDFSM VHYVDSRGLV VLRQICNAFQ NANILILIAG CHSSIVRAFE RNDFFDAGIT
KTQLFLSVHD AVLFALSRKV IGSSELSIDE SETVIRETYS ETDKNDNSRY KMSSSFLGSQ
KNVSPGFIKI QQPVEEESEL DLELESEQEA GLGLDLDLDR ELEPEMEPKA ETETKTQTEM
EPQPETEPEM EPNPKSRPRA HTFPQQRYWP MYHPSMASTQ SQTQTRTWSV ERRRHPMDSY
SPEGNSNEDV *

speed

1.03 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999992 (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)

chr6:35923246T>CN/A show variant in all transcripts IGV

HGNC symbol

SLC26A8

Ensembl transcript ID

ENST00000355574

Genbank transcript ID

NM_001193476

UniProt peptide

Q96RN1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1915A>G
cDNA.2086A>G
g.69400A>G

AA changes

I639V Score: 29 explain score(s)

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

639

frameshift

known variant

Reference ID: rs2295852

database	homozygous (C/C)	heterozygous	allele carriers
1000G	519	1003	1522
ExAC	8012	16743	24755

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.644	0.003
	-0.966	0
(flanking)	-0.566	0.005

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 increased	69404	wt: 0.34 / mu: 0.44	wt: CATTAACCTGATTCA mu: CGTTAACCTGATTCA	TTAA\|cctg
Donor gained	69399	0.62	mu: TCCTCCGTTAACCTG	CTCC\|gtta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

639

mutated

all conserved

639

Ptroglodytes

all conserved

ENSPTRG00000018095

639

Mmulatta

all conserved

ENSMMUG00000008442

629

Fcatus

no alignment

ENSFCAG00000014824

n/a

Mmusculus

all identical

ENSMUSG00000036196

637

Ggallus

not conserved

ENSGALG00000000844

577

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
519	970	TOPO_DOM	Cytoplasmic (Potential).	lost
543	795	DOMAIN	STAS.	lost
664	970	REGION	Interaction with RACGAP1.	might get lost (downstream of altered splice site)
914	914	MUTAGEN	P->S: Not a cause of male infertility.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2913 / 2913

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

971 / 971

position of stopcodon in wt / mu cDNA

3084 / 3084

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

172 / 172

chromosome

strand

-1

last intron/exon boundary

2644

theoretical NMD boundary in CDS

2422

length of CDS

2913

coding sequence (CDS) position

1915

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

2086

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

69400

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

35923246

original gDNA sequence snippet

TGGATCCCGAAGCATCCTCCATTAACCTGATTCACTGCTCA

altered gDNA sequence snippet

TGGATCCCGAAGCATCCTCCGTTAACCTGATTCACTGCTCA

original cDNA sequence snippet

TGGATCCCGAAGCATCCTCCATTAACCTGATTCACTGCTCA

altered cDNA sequence snippet

TGGATCCCGAAGCATCCTCCGTTAACCTGATTCACTGCTCA

wildtype AA sequence

MAQLERSAIS GFSSKSRRNS FAYDVKREVY NEETFQQEHK RKASSSGNMN INITTFRHHV
QCRCSWHRFL RCVLTIFPFL EWMCMYRLKD WLLGDLLAGI SVGLVQVPQG LTLSLLARQL
IPPLNIAYAA FCSSVIYVIF GSCHQMSIGS FFLVSALLIN VLKVSPFNNG QLVMGSFVKN
EFSAPSYLMG YNKSLSVVAT TTFLTGIIQL IMGVLGLGFI ATYLPESAMS AYLAAVALHI
MLSQLTFIFG IMISFHAGPI SFFYDIINYC VALPKANSTS ILVFLTVVVA LRINKCIRIS
FNQYPIEFPM ELFLIIGFTV IANKISMATE TSQTLIDMIP YSFLLPVTPD FSLLPKIILQ
AFSLSLVSSF LLIFLGKKIA SLHNYSVNSN QDLIAIGLCN VVSSFFRSCV FTGAIARTII
QDKSGGRQQF ASLVGAGVML LLMVKMGHFF YTLPNAVLAG IILSNVIPYL ETISNLPSLW
RQDQYDCALW MMTFSSSIFL GLDIGLIISV VSAFFITTVR SHRAKILLLG QIPNTNIYRS
INDYREIITI PGVKIFQCCS SITFVNVYYL KHKLLKEVDM VKVPLKEEEI FSLFNSSDTN
LQGGKICRCF CNCDDLEPLP RILYTERFEN KLDPEASSIN LIHCSHFESM NTSQTASEDQ
VPYTVSSVSQ KNQGQQYEEV EEVWLPNNSS RNSSPGLPDV AESQGRRSLI PYSDASLLPS
VHTIILDFSM VHYVDSRGLV VLRQICNAFQ NANILILIAG CHSSIVRAFE RNDFFDAGIT
KTQLFLSVHD AVLFALSRKV IGSSELSIDE SETVIRETYS ETDKNDNSRY KMSSSFLGSQ
KNVSPGFIKI QQPVEEESEL DLELESEQEA GLGLDLDLDR ELEPEMEPKA ETETKTQTEM
EPQPETEPEM EPNPKSRPRA HTFPQQRYWP MYHPSMASTQ SQTQTRTWSV ERRRHPMDSY
SPEGNSNEDV *

mutated AA sequence

MAQLERSAIS GFSSKSRRNS FAYDVKREVY NEETFQQEHK RKASSSGNMN INITTFRHHV
QCRCSWHRFL RCVLTIFPFL EWMCMYRLKD WLLGDLLAGI SVGLVQVPQG LTLSLLARQL
IPPLNIAYAA FCSSVIYVIF GSCHQMSIGS FFLVSALLIN VLKVSPFNNG QLVMGSFVKN
EFSAPSYLMG YNKSLSVVAT TTFLTGIIQL IMGVLGLGFI ATYLPESAMS AYLAAVALHI
MLSQLTFIFG IMISFHAGPI SFFYDIINYC VALPKANSTS ILVFLTVVVA LRINKCIRIS
FNQYPIEFPM ELFLIIGFTV IANKISMATE TSQTLIDMIP YSFLLPVTPD FSLLPKIILQ
AFSLSLVSSF LLIFLGKKIA SLHNYSVNSN QDLIAIGLCN VVSSFFRSCV FTGAIARTII
QDKSGGRQQF ASLVGAGVML LLMVKMGHFF YTLPNAVLAG IILSNVIPYL ETISNLPSLW
RQDQYDCALW MMTFSSSIFL GLDIGLIISV VSAFFITTVR SHRAKILLLG QIPNTNIYRS
INDYREIITI PGVKIFQCCS SITFVNVYYL KHKLLKEVDM VKVPLKEEEI FSLFNSSDTN
LQGGKICRCF CNCDDLEPLP RILYTERFEN KLDPEASSVN LIHCSHFESM NTSQTASEDQ
VPYTVSSVSQ KNQGQQYEEV EEVWLPNNSS RNSSPGLPDV AESQGRRSLI PYSDASLLPS
VHTIILDFSM VHYVDSRGLV VLRQICNAFQ NANILILIAG CHSSIVRAFE RNDFFDAGIT
KTQLFLSVHD AVLFALSRKV IGSSELSIDE SETVIRETYS ETDKNDNSRY KMSSSFLGSQ
KNVSPGFIKI QQPVEEESEL DLELESEQEA GLGLDLDLDR ELEPEMEPKA ETETKTQTEM
EPQPETEPEM EPNPKSRPRA HTFPQQRYWP MYHPSMASTQ SQTQTRTWSV ERRRHPMDSY
SPEGNSNEDV *

speed

0.71 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