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: ENST00000554873
Querying Taster for transcript #2: ENST00000557275
Querying Taster for transcript #3: ENST00000334258
MT speed 0 s - this script 4.976612 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SYNE3	polymorphism_automatic	0.00107490720085401	simple_aae		affected		A680V	single base exchange	rs12434757		show file
SYNE3	polymorphism_automatic	0.00132116902299095	simple_aae		affected		A918V	single base exchange	rs12434757		show file
SYNE3	polymorphism_automatic	0.00132116902299095	simple_aae		affected		A923V	single base exchange	rs12434757		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.998925092799146 (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)

chr14:95884323G>AN/A show variant in all transcripts IGV

HGNC symbol

SYNE3

Ensembl transcript ID

ENST00000554873

Genbank transcript ID

N/A

UniProt peptide

Q6ZMZ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2039C>T
cDNA.2444C>T
g.57851C>T

AA changes

A680V Score: 64 explain score(s)

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

680

frameshift

known variant

Reference ID: rs12434757

database	homozygous (A/A)	heterozygous	allele carriers
1000G	767	1221	1988
ExAC	23457	-14147	9310

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.315	0.995
	0.589	0.996
(flanking)	5.584	0.997

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 gained	57849	0.35	mu: CTGGGCTCCCTCTTCCGGAGGGTGTGCTGTGTGGCGCTCCC	gagg\|GTGT
Donor gained	57844	0.76	mu: TCTTCCGGAGGGTGT	TTCC\|ggag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

680

mutated

not conserved

680

Ptroglodytes

not conserved

ENSPTRG00000006691

898

Mmulatta

not conserved

ENSMMUG00000004931

923

Fcatus

not conserved

ENSFCAG00000012093

908

Mmusculus

all identical

ENSMUSG00000054150

922

Ggallus

not conserved

ENSGALG00000011076

906

Trubripes

not conserved

ENSTRUG00000005974

935

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023311

927

protein features

start (aa)	end (aa)	feature	details
1	925	TOPO_DOM	Cytoplasmic (Potential).	lost
647	740	REPEAT	Spectrin 2.	lost
917	975	DOMAIN	KASH.	might get lost (downstream of altered splice site)
926	946	TRANSMEM	Helical; Anchor for type IV membrane protein; (Potential).	might get lost (downstream of altered splice site)
947	975	TOPO_DOM	Perinuclear space (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2199 / 2199

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

733 / 733

position of stopcodon in wt / mu cDNA

2604 / 2604

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

406 / 406

chromosome

strand

-1

last intron/exon boundary

2404

theoretical NMD boundary in CDS

1948

length of CDS

2199

coding sequence (CDS) position

2039

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

2444

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

57851

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

95884323

original gDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGCGTGCTGTGTGGCGCTCCCAC

altered gDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGTGTGCTGTGTGGCGCTCCCAC

original cDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGCGTGCTGTGTGGCGCTCCCAC

altered cDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGTGTGCTGTGTGGCGCTCCCAC

wildtype AA sequence

MQQLYSFSLP VFPSPLYPLQ DIAKDFPRGE ESLETLEEQS AGVIRNTSPL GAEKITGELE
EMRKVLEKLR ALWEEEEERL RGLLRSRGAW EQQIKQLEAE LSEFRMVLQR LAQEGLQPAA
KAGTEDELVA HWRRYSATRA ALASEEPRVD RLQAQLKELI VFPHNLKPLS DSVIATIQEY
QSLKVKSARL RNAAAVELWQ HFQRPLQDLQ LWKALAQRLL EVTASLPDLP SLHTFLPQIE
AALMESSRLK ELLTMLQLKK DLLIGIFGQE RATALLEQVA GSMRDRDLLH NSLLQRKSKL
QSLLAQHKDF GAAFEPLQRK LLDLQVRVQA EKGLQRDLPG KQAQLSRLQG LQEEGLDLGA
QMEAARPLVQ ENPNHQHKMD QLSSDFQALQ RSLEDLVDRC RQSVQEHCTF SHQLLELRQW
IVVTTQKLEA HRGEAGPGDA ESQEAEFERL VAEFPEKEAQ LSLVEAQGWL VMEKSSPEGA
AVVQEELREL AESWRALRLL EESLLSLIRN WHLQRMEVDS GKKMVFTNNI PKSGFLINPM
DPIPRHRRRA NLLQEEEGSH EDFSQLLRNF GQWLQVENSK LVRIIAMRTS TAEDLRTRKS
KLQELEARVP EGQHLFENLL RLGPARGTSD ELEDLRYQWM LYKSKLKDSG HLLTQSSPGE
PTGFQKTRRW RGLGSLFRRA CCVALPLQLL LLLFLLLLFL LPIREEDRSC TLANNFARSF
TLMLRYNGPP PT*

mutated AA sequence

MQQLYSFSLP VFPSPLYPLQ DIAKDFPRGE ESLETLEEQS AGVIRNTSPL GAEKITGELE
EMRKVLEKLR ALWEEEEERL RGLLRSRGAW EQQIKQLEAE LSEFRMVLQR LAQEGLQPAA
KAGTEDELVA HWRRYSATRA ALASEEPRVD RLQAQLKELI VFPHNLKPLS DSVIATIQEY
QSLKVKSARL RNAAAVELWQ HFQRPLQDLQ LWKALAQRLL EVTASLPDLP SLHTFLPQIE
AALMESSRLK ELLTMLQLKK DLLIGIFGQE RATALLEQVA GSMRDRDLLH NSLLQRKSKL
QSLLAQHKDF GAAFEPLQRK LLDLQVRVQA EKGLQRDLPG KQAQLSRLQG LQEEGLDLGA
QMEAARPLVQ ENPNHQHKMD QLSSDFQALQ RSLEDLVDRC RQSVQEHCTF SHQLLELRQW
IVVTTQKLEA HRGEAGPGDA ESQEAEFERL VAEFPEKEAQ LSLVEAQGWL VMEKSSPEGA
AVVQEELREL AESWRALRLL EESLLSLIRN WHLQRMEVDS GKKMVFTNNI PKSGFLINPM
DPIPRHRRRA NLLQEEEGSH EDFSQLLRNF GQWLQVENSK LVRIIAMRTS TAEDLRTRKS
KLQELEARVP EGQHLFENLL RLGPARGTSD ELEDLRYQWM LYKSKLKDSG HLLTQSSPGE
PTGFQKTRRW RGLGSLFRRV CCVALPLQLL LLLFLLLLFL LPIREEDRSC TLANNFARSF
TLMLRYNGPP PT*

speed

1.43 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: 0.998678830977009 (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)

chr14:95884323G>AN/A show variant in all transcripts IGV

HGNC symbol

SYNE3

Ensembl transcript ID

ENST00000557275

Genbank transcript ID

N/A

UniProt peptide

Q6ZMZ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2753C>T
cDNA.2768C>T
g.57851C>T

AA changes

A918V Score: 64 explain score(s)

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

918

frameshift

known variant

Reference ID: rs12434757

database	homozygous (A/A)	heterozygous	allele carriers
1000G	767	1221	1988
ExAC	23457	-14147	9310

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.315	0.995
	0.589	0.996
(flanking)	5.584	0.997

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 gained	57849	0.35	mu: CTGGGCTCCCTCTTCCGGAGGGTGTGCTGTGTGGCGCTCCC	gagg\|GTGT
Donor gained	57844	0.76	mu: TCTTCCGGAGGGTGT	TTCC\|ggag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

918

mutated

not conserved

918

Ptroglodytes

not conserved

ENSPTRG00000006691

898

Mmulatta

not conserved

ENSMMUG00000004931

923

Fcatus

not conserved

ENSFCAG00000012093

908

Mmusculus

all identical

ENSMUSG00000054150

921

SPC

Ggallus

not conserved

ENSGALG00000011076

904

RSG

Trubripes

not conserved

ENSTRUG00000005974

929

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023311

925

protein features

start (aa)	end (aa)	feature	details
1	925	TOPO_DOM	Cytoplasmic (Potential).	lost
917	975	DOMAIN	KASH.	lost
926	946	TRANSMEM	Helical; Anchor for type IV membrane protein; (Potential).	might get lost (downstream of altered splice site)
947	975	TOPO_DOM	Perinuclear space (Potential).	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

2928 / 2928

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

16 / 16

chromosome

strand

-1

last intron/exon boundary

2728

theoretical NMD boundary in CDS

2662

length of CDS

2913

coding sequence (CDS) position

2753

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

2768

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

57851

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

95884323

original gDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGCGTGCTGTGTGGCGCTCCCAC

altered gDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGTGTGCTGTGTGGCGCTCCCAC

original cDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGCGTGCTGTGTGGCGCTCCCAC

altered cDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGTGTGCTGTGTGGCGCTCCCAC

wildtype AA sequence

MTQQPQDDFD RSVEDAQAWM KAVQDQLQVN DNTQGPRAAL EARLWETEKI CQLEPEGRVR
VDLVLRMAEA LLACCPGDQK PGILARLKDI KAQWEETVTY MTHCHSRIEW VWLHWSEYLL
ARDEFYRWFQ KMMVTLEPHI ELQLGLKEKQ WQLSHAQVLL HNVDNQAVLL DRLLEEAASL
FNRIGDPSVD EDAQKRMKAE YDAVKAKAQK RVDLLEQVAR EHEEYQAGVD EFQLWLKAVV
EKVNGCLGRN CKLPITQRLS TLQDIAKDFP RGEESLETLE EQSAGVIRNT SPLGAEKITG
ELEEMRKVLE KLRALWEEEE ERLRGLLRSR GAWEQQIKQL EAELSEFRMV LQRLAQEGLQ
PAAKAGTEDE LVAHWRRYSA TRAALASEEP RVDRLQAQLK ELIVFPHNLK PLSDSVIATI
QEYQSLKVKS ARLRNAAAVE LWQHFQRPLQ DLQLWKALAQ RLLEVTASLP DLPSLHTFLP
QIEAALMESS RLKELLTMLQ LKKDLLIGIF GQERATALLE QVAGSMRDRD LLHNSLLQRK
SKLQSLLAQH KDFGAAFEPL QRKLLDLQVR VQAEKGLQRD LPGKQAQLSR LQGLQEEGLD
LGAQMEAARP LVQENPNHQH KMDQLSSDFQ ALQRSLEDLV DRCRQSVQEH CTFSHQLLEL
RQWIVVTTQK LEAHRGEAGP GDAESQEAEF ERLVAEFPEK EAQLSLVEAQ GWLVMEKSSP
EGAAVVQEEL RELAESWRAL RLLEESLLSL IRNWHLQRME VDSGKKMVFT NNIPKSGFLI
NPMDPIPRHR RREEEGSHED FSQLLRNFGQ WLQVENSKLV RIIAMRTSTA EDLRTRKSKL
QELEARVPEG QHLFENLLRL GPARGTSDEL EDLRYQWMLY KSKLKDSGHL LTQSSPGEPT
GFQKTRRWRG LGSLFRRACC VALPLQLLLL LFLLLLFLLP IREEDRSCTL ANNFARSFTL
MLRYNGPPPT *

mutated AA sequence

MTQQPQDDFD RSVEDAQAWM KAVQDQLQVN DNTQGPRAAL EARLWETEKI CQLEPEGRVR
VDLVLRMAEA LLACCPGDQK PGILARLKDI KAQWEETVTY MTHCHSRIEW VWLHWSEYLL
ARDEFYRWFQ KMMVTLEPHI ELQLGLKEKQ WQLSHAQVLL HNVDNQAVLL DRLLEEAASL
FNRIGDPSVD EDAQKRMKAE YDAVKAKAQK RVDLLEQVAR EHEEYQAGVD EFQLWLKAVV
EKVNGCLGRN CKLPITQRLS TLQDIAKDFP RGEESLETLE EQSAGVIRNT SPLGAEKITG
ELEEMRKVLE KLRALWEEEE ERLRGLLRSR GAWEQQIKQL EAELSEFRMV LQRLAQEGLQ
PAAKAGTEDE LVAHWRRYSA TRAALASEEP RVDRLQAQLK ELIVFPHNLK PLSDSVIATI
QEYQSLKVKS ARLRNAAAVE LWQHFQRPLQ DLQLWKALAQ RLLEVTASLP DLPSLHTFLP
QIEAALMESS RLKELLTMLQ LKKDLLIGIF GQERATALLE QVAGSMRDRD LLHNSLLQRK
SKLQSLLAQH KDFGAAFEPL QRKLLDLQVR VQAEKGLQRD LPGKQAQLSR LQGLQEEGLD
LGAQMEAARP LVQENPNHQH KMDQLSSDFQ ALQRSLEDLV DRCRQSVQEH CTFSHQLLEL
RQWIVVTTQK LEAHRGEAGP GDAESQEAEF ERLVAEFPEK EAQLSLVEAQ GWLVMEKSSP
EGAAVVQEEL RELAESWRAL RLLEESLLSL IRNWHLQRME VDSGKKMVFT NNIPKSGFLI
NPMDPIPRHR RREEEGSHED FSQLLRNFGQ WLQVENSKLV RIIAMRTSTA EDLRTRKSKL
QELEARVPEG QHLFENLLRL GPARGTSDEL EDLRYQWMLY KSKLKDSGHL LTQSSPGEPT
GFQKTRRWRG LGSLFRRVCC VALPLQLLLL LFLLLLFLLP IREEDRSCTL ANNFARSFTL
MLRYNGPPPT *

speed

1.55 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.998678830977009 (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)

chr14:95884323G>AN/A show variant in all transcripts IGV

HGNC symbol

SYNE3

Ensembl transcript ID

ENST00000334258

Genbank transcript ID

NM_152592

UniProt peptide

Q6ZMZ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2768C>T
cDNA.2783C>T
g.57851C>T

AA changes

A923V Score: 64 explain score(s)

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

923

frameshift

known variant

Reference ID: rs12434757

database	homozygous (A/A)	heterozygous	allele carriers
1000G	767	1221	1988
ExAC	23457	-14147	9310

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.315	0.995
	0.589	0.996
(flanking)	5.584	0.997

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 gained	57849	0.35	mu: CTGGGCTCCCTCTTCCGGAGGGTGTGCTGTGTGGCGCTCCC	gagg\|GTGT
Donor gained	57844	0.76	mu: TCTTCCGGAGGGTGT	TTCC\|ggag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

923

mutated

not conserved

923

Ptroglodytes

not conserved

ENSPTRG00000006691

898

Mmulatta

not conserved

ENSMMUG00000004931

923

Fcatus

not conserved

ENSFCAG00000012093

908

Mmusculus

all identical

ENSMUSG00000054150

921

SPC

Ggallus

not conserved

ENSGALG00000011076

904

RSG

Trubripes

not conserved

ENSTRUG00000005974

928

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023311

925

protein features

start (aa)	end (aa)	feature	details
1	925	TOPO_DOM	Cytoplasmic (Potential).	lost
917	975	DOMAIN	KASH.	lost
926	946	TRANSMEM	Helical; Anchor for type IV membrane protein; (Potential).	might get lost (downstream of altered splice site)
947	975	TOPO_DOM	Perinuclear space (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2928 / 2928

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

976 / 976

position of stopcodon in wt / mu cDNA

2943 / 2943

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

16 / 16

chromosome

strand

-1

last intron/exon boundary

2743

theoretical NMD boundary in CDS

2677

length of CDS

2928

coding sequence (CDS) position

2768

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

2783

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

57851

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

95884323

original gDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGCGTGCTGTGTGGCGCTCCCAC

altered gDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGTGTGCTGTGTGGCGCTCCCAC

original cDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGCGTGCTGTGTGGCGCTCCCAC

altered cDNA sequence snippet

GGGCTCCCTCTTCCGGAGGGTGTGCTGTGTGGCGCTCCCAC

wildtype AA sequence

MTQQPQDDFD RSVEDAQAWM KAVQDQLQVN DNTQGPRAAL EARLWETEKI CQLEPEGRVR
VDLVLRMAEA LLACCPGDQK PGILARLKDI KAQWEETVTY MTHCHSRIEW VWLHWSEYLL
ARDEFYRWFQ KMMVTLEPHI ELQLGLKEKQ WQLSHAQVLL HNVDNQAVLL DRLLEEAASL
FNRIGDPSVD EDAQKRMKAE YDAVKAKAQK RVDLLEQVAR EHEEYQAGVD EFQLWLKAVV
EKVNGCLGRN CKLPITQRLS TLQDIAKDFP RGEESLETLE EQSAGVIRNT SPLGAEKITG
ELEEMRKVLE KLRALWEEEE ERLRGLLRSR GAWEQQIKQL EAELSEFRMV LQRLAQEGLQ
PAAKAGTEDE LVAHWRRYSA TRAALASEEP RVDRLQAQLK ELIVFPHNLK PLSDSVIATI
QEYQSLKVKS ARLRNAAAVE LWQHFQRPLQ DLQLWKALAQ RLLEVTASLP DLPSLHTFLP
QIEAALMESS RLKELLTMLQ LKKDLLIGIF GQERATALLE QVAGSMRDRD LLHNSLLQRK
SKLQSLLAQH KDFGAAFEPL QRKLLDLQVR VQAEKGLQRD LPGKQAQLSR LQGLQEEGLD
LGAQMEAARP LVQENPNHQH KMDQLSSDFQ ALQRSLEDLV DRCRQSVQEH CTFSHQLLEL
RQWIVVTTQK LEAHRGEAGP GDAESQEAEF ERLVAEFPEK EAQLSLVEAQ GWLVMEKSSP
EGAAVVQEEL RELAESWRAL RLLEESLLSL IRNWHLQRME VDSGKKMVFT NNIPKSGFLI
NPMDPIPRHR RRANLLQEEE GSHEDFSQLL RNFGQWLQVE NSKLVRIIAM RTSTAEDLRT
RKSKLQELEA RVPEGQHLFE NLLRLGPARG TSDELEDLRY QWMLYKSKLK DSGHLLTQSS
PGEPTGFQKT RRWRGLGSLF RRACCVALPL QLLLLLFLLL LFLLPIREED RSCTLANNFA
RSFTLMLRYN GPPPT*

mutated AA sequence

MTQQPQDDFD RSVEDAQAWM KAVQDQLQVN DNTQGPRAAL EARLWETEKI CQLEPEGRVR
VDLVLRMAEA LLACCPGDQK PGILARLKDI KAQWEETVTY MTHCHSRIEW VWLHWSEYLL
ARDEFYRWFQ KMMVTLEPHI ELQLGLKEKQ WQLSHAQVLL HNVDNQAVLL DRLLEEAASL
FNRIGDPSVD EDAQKRMKAE YDAVKAKAQK RVDLLEQVAR EHEEYQAGVD EFQLWLKAVV
EKVNGCLGRN CKLPITQRLS TLQDIAKDFP RGEESLETLE EQSAGVIRNT SPLGAEKITG
ELEEMRKVLE KLRALWEEEE ERLRGLLRSR GAWEQQIKQL EAELSEFRMV LQRLAQEGLQ
PAAKAGTEDE LVAHWRRYSA TRAALASEEP RVDRLQAQLK ELIVFPHNLK PLSDSVIATI
QEYQSLKVKS ARLRNAAAVE LWQHFQRPLQ DLQLWKALAQ RLLEVTASLP DLPSLHTFLP
QIEAALMESS RLKELLTMLQ LKKDLLIGIF GQERATALLE QVAGSMRDRD LLHNSLLQRK
SKLQSLLAQH KDFGAAFEPL QRKLLDLQVR VQAEKGLQRD LPGKQAQLSR LQGLQEEGLD
LGAQMEAARP LVQENPNHQH KMDQLSSDFQ ALQRSLEDLV DRCRQSVQEH CTFSHQLLEL
RQWIVVTTQK LEAHRGEAGP GDAESQEAEF ERLVAEFPEK EAQLSLVEAQ GWLVMEKSSP
EGAAVVQEEL RELAESWRAL RLLEESLLSL IRNWHLQRME VDSGKKMVFT NNIPKSGFLI
NPMDPIPRHR RRANLLQEEE GSHEDFSQLL RNFGQWLQVE NSKLVRIIAM RTSTAEDLRT
RKSKLQELEA RVPEGQHLFE NLLRLGPARG TSDELEDLRY QWMLYKSKLK DSGHLLTQSS
PGEPTGFQKT RRWRGLGSLF RRVCCVALPL QLLLLLFLLL LFLLPIREED RSCTLANNFA
RSFTLMLRYN GPPPT*

speed

1.40 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