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: ENST00000265348
Querying Taster for transcript #2: ENST00000535468
MT speed 0 s - this script 2.531366 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CUL7	disease_causing_automatic	0.998504359997255	simple_aae		affected	0	H1464P	single base exchange	rs121918229		show file
CUL7	disease_causing_automatic	0.998504359997255	simple_aae		affected	0	H1548P	single base exchange	rs121918229		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.998504359997255 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM053188)
known disease mutation: rs1614 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:43006629T>GN/A show variant in all transcripts IGV

HGNC symbol

CUL7

Ensembl transcript ID

ENST00000265348

Genbank transcript ID

NM_014780

UniProt peptide

Q14999

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4391A>C
cDNA.4477A>C
g.15055A>C

AA changes

H1464P Score: 77 explain score(s)

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

1464

frameshift

known variant

Reference ID: rs121918229

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs1614 (pathogenic for Three M syndrome 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053188)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053188)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053188)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.469	0.868
	2.78	0.998
(flanking)	5.325	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
Acc gained	15066	0.43	mu: AGACCCTGCCTGTGTCCACCGTGCAGATGTGGCTACTGCTG	accg\|TGCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1464

mutated

not conserved

1464

Ptroglodytes

all identical

ENSPTRG00000018185

1548

Mmulatta

all identical

ENSMMUG00000002451

1463

Fcatus

all identical

ENSFCAG00000009717

1458

Mmusculus

all identical

ENSMUSG00000038545

1455

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000018504

1392

protein features

start (aa)	end (aa)	feature	details
1576	1576	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8) (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5097 / 5097

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

1699 / 1699

position of stopcodon in wt / mu cDNA

5183 / 5183

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

87 / 87

chromosome

strand

-1

last intron/exon boundary

4860

theoretical NMD boundary in CDS

4723

length of CDS

5097

coding sequence (CDS) position

4391

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

4477

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

15055

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

43006629

original gDNA sequence snippet

GTTTGGGAACCAGACCCTGCATGTGTCCACCGTGCAGATGT

altered gDNA sequence snippet

GTTTGGGAACCAGACCCTGCCTGTGTCCACCGTGCAGATGT

original cDNA sequence snippet

GTTTGGGAACCAGACCCTGCATGTGTCCACCGTGCAGATGT

altered cDNA sequence snippet

GTTTGGGAACCAGACCCTGCCTGTGTCCACCGTGCAGATGT

wildtype AA sequence

MVGELRYREF RVPLGPGLHA YPDELIRQRV GHDGHPEYQI RWLILRRGDE GDGGSGQVDC
KAEHILLWMS KDEIYANCHK MLGEDGQVIG PSQESAGEVG ALDKSVLEEM ETDVKSLIQR
ALRQLEECVG TIPPAPLLHT VHVLSAYASI EPLTGVFKDP RVLDLLMHML SSPDYQIRWS
AGRMIQALSS HDAGTRTQIL LSLSQQEAIE KHLDFDSRCA LLALFAQATL SEHPMSFEGI
QLPQVPGRVL FSLVKRYLHV TSLLDQLNDS AAEPGAQNTS APEELSGERG QLELEFSMAM
GTLISELVQA MRWDQASDRP RSSARSPGSI FQPQLADVSP GLPAAQAQPS FRRSRRFRPR
SEFASGNTYA LYVRDTLQPG MRVRMLDDYE EISAGDEGEF RQSNNGVPPV QVFWESTGRT
YWVHWHMLEI LGFEEDIEDM VEADEYQGAV ASRVLGRALP AWRWRPMTEL YAVPYVLPED
EDTEECEHLT LAEWWELLFF IKKLDGPDHQ EVLQILQENL DGEILDDEIL AELAVPIELA
QDLLLTLPQR LNDSALRDLI NCHVYKKYGP EALAGNQAYP SLLEAQEDVL LLDAQAQAKD
SEDAAKVEAK EPPSQSPNTP LQRLVEGYGP AGKILLDLEQ ALSSEGTQEN KVKPLLLQLQ
RQPQPFLALM QSLDTPETNR TLHLTVLRIL KQLVDFPEAL LLPWHEAVDA CMACLRSPNT
DREVLQELIF FLHRLTSVSR DYAVVLNQLG ARDAISKALE KHLGKLELAQ ELRDMVFKCE
KHAHLYRKLI TNILGGCIQM VLGQIEDHRR THQPINIPFF DVFLRYLCQG SSVEVKEDKC
WEKVEVSSNP HRASKLTDHN PKTYWESNGS AGSHYITLHM RRGILIRQLT LLVASEDSSY
MPARVVVCGG DSTSSLHTEL NSVNVMPSAS RVILLENLTR FWPIIQIRIK RCQQGGIDTR
IRGLEILGPK PTFWPVFREQ LCRHTRLFYM VRAQAWSQDM AEDRRSLLHL SSRLNGALRQ
EQNFADRFLP DDEAAQALGK TCWEALVSPV VQNITSPDED GISPLGWLLD QYLECQEAVF
NPQSRGPAFF SRVRRLTHLL VHVEPCEAPP PVVATPRPKG RNRSHDWSSL ATRGLPSSIM
RNLTRCWRAV VEKQVNNFLT SSWRDDDFVP RYCEHFNILQ NSSSELFGPR AAFLLALQNG
CAGALLKLPF LKAAHVSEQF ARHIDQQIQG SRIGGAQEME RLAQLQQCLQ AVLIFSGLEI
ATTFEHYYQH YMADRLLGVV SSWLEGAVLE QIGPCFPNRL PQQMLQSLST SKELQRQFHV
YQLQQLDQEL LKLEDTEKKI QVGLGASGKE HKSEKEEEAG AAAVVDVAEG EEEEEENEDL
YYEGAMPEVS VLVLSRHSWP VASICHTLNP RTCLPSYLRG TLNRYSNFYN KSQSHPALER
GSQRRLQWTW LGWAELQFGN QTLHVSTVQM WLLLYLNDLK AVSVESLLAF SGLSADMLNQ
AIGPLTSSRG PLDLHEQKDI PGGVLKIRDG SKEPRSRWDI VRLIPPQTYL QAEGEDGQNL
EKRRNLLNCL IVRILKAHGD EGLHIDQLVC LVLEAWQKGP CPPRGLVSSL GKGSACSSTD
VLSCILHLLG KGTLRRHDDR PQVLSYAVPV TVMEPHTESL NPGSSGPNPP LTFHTLQIRS
RGVPYASCTA TQSFSTFR*

mutated AA sequence

MVGELRYREF RVPLGPGLHA YPDELIRQRV GHDGHPEYQI RWLILRRGDE GDGGSGQVDC
KAEHILLWMS KDEIYANCHK MLGEDGQVIG PSQESAGEVG ALDKSVLEEM ETDVKSLIQR
ALRQLEECVG TIPPAPLLHT VHVLSAYASI EPLTGVFKDP RVLDLLMHML SSPDYQIRWS
AGRMIQALSS HDAGTRTQIL LSLSQQEAIE KHLDFDSRCA LLALFAQATL SEHPMSFEGI
QLPQVPGRVL FSLVKRYLHV TSLLDQLNDS AAEPGAQNTS APEELSGERG QLELEFSMAM
GTLISELVQA MRWDQASDRP RSSARSPGSI FQPQLADVSP GLPAAQAQPS FRRSRRFRPR
SEFASGNTYA LYVRDTLQPG MRVRMLDDYE EISAGDEGEF RQSNNGVPPV QVFWESTGRT
YWVHWHMLEI LGFEEDIEDM VEADEYQGAV ASRVLGRALP AWRWRPMTEL YAVPYVLPED
EDTEECEHLT LAEWWELLFF IKKLDGPDHQ EVLQILQENL DGEILDDEIL AELAVPIELA
QDLLLTLPQR LNDSALRDLI NCHVYKKYGP EALAGNQAYP SLLEAQEDVL LLDAQAQAKD
SEDAAKVEAK EPPSQSPNTP LQRLVEGYGP AGKILLDLEQ ALSSEGTQEN KVKPLLLQLQ
RQPQPFLALM QSLDTPETNR TLHLTVLRIL KQLVDFPEAL LLPWHEAVDA CMACLRSPNT
DREVLQELIF FLHRLTSVSR DYAVVLNQLG ARDAISKALE KHLGKLELAQ ELRDMVFKCE
KHAHLYRKLI TNILGGCIQM VLGQIEDHRR THQPINIPFF DVFLRYLCQG SSVEVKEDKC
WEKVEVSSNP HRASKLTDHN PKTYWESNGS AGSHYITLHM RRGILIRQLT LLVASEDSSY
MPARVVVCGG DSTSSLHTEL NSVNVMPSAS RVILLENLTR FWPIIQIRIK RCQQGGIDTR
IRGLEILGPK PTFWPVFREQ LCRHTRLFYM VRAQAWSQDM AEDRRSLLHL SSRLNGALRQ
EQNFADRFLP DDEAAQALGK TCWEALVSPV VQNITSPDED GISPLGWLLD QYLECQEAVF
NPQSRGPAFF SRVRRLTHLL VHVEPCEAPP PVVATPRPKG RNRSHDWSSL ATRGLPSSIM
RNLTRCWRAV VEKQVNNFLT SSWRDDDFVP RYCEHFNILQ NSSSELFGPR AAFLLALQNG
CAGALLKLPF LKAAHVSEQF ARHIDQQIQG SRIGGAQEME RLAQLQQCLQ AVLIFSGLEI
ATTFEHYYQH YMADRLLGVV SSWLEGAVLE QIGPCFPNRL PQQMLQSLST SKELQRQFHV
YQLQQLDQEL LKLEDTEKKI QVGLGASGKE HKSEKEEEAG AAAVVDVAEG EEEEEENEDL
YYEGAMPEVS VLVLSRHSWP VASICHTLNP RTCLPSYLRG TLNRYSNFYN KSQSHPALER
GSQRRLQWTW LGWAELQFGN QTLPVSTVQM WLLLYLNDLK AVSVESLLAF SGLSADMLNQ
AIGPLTSSRG PLDLHEQKDI PGGVLKIRDG SKEPRSRWDI VRLIPPQTYL QAEGEDGQNL
EKRRNLLNCL IVRILKAHGD EGLHIDQLVC LVLEAWQKGP CPPRGLVSSL GKGSACSSTD
VLSCILHLLG KGTLRRHDDR PQVLSYAVPV TVMEPHTESL NPGSSGPNPP LTFHTLQIRS
RGVPYASCTA TQSFSTFR*

speed

0.33 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

disease causing

Model: simple_aae, prob: 0.998504359997255 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM053188)
known disease mutation: rs1614 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:43006629T>GN/A show variant in all transcripts IGV

HGNC symbol

CUL7

Ensembl transcript ID

ENST00000535468

Genbank transcript ID

NM_001168370

UniProt peptide

Q14999

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4643A>C
cDNA.4730A>C
g.15055A>C

AA changes

H1548P Score: 77 explain score(s)

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

1548

frameshift

known variant

Reference ID: rs121918229

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.469	0.868
	2.78	0.998
(flanking)	5.325	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
Acc gained	15066	0.43	mu: AGACCCTGCCTGTGTCCACCGTGCAGATGTGGCTACTGCTG	accg\|TGCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1548

mutated

not conserved

1548

Ptroglodytes

all identical

ENSPTRG00000018185

1548

Mmulatta

all identical

ENSMMUG00000002451

1463

Fcatus

all identical

ENSFCAG00000009717

1458

Mmusculus

all identical

ENSMUSG00000038545

1455

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000018504

1392

protein features

start (aa)	end (aa)	feature	details
1576	1576	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8) (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5349 / 5349

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

1783 / 1783

position of stopcodon in wt / mu cDNA

5436 / 5436

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

88 / 88

chromosome

strand

-1

last intron/exon boundary

5113

theoretical NMD boundary in CDS

4975

length of CDS

5349

coding sequence (CDS) position

4643

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

4730

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

15055

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

43006629

original gDNA sequence snippet

GTTTGGGAACCAGACCCTGCATGTGTCCACCGTGCAGATGT

altered gDNA sequence snippet

GTTTGGGAACCAGACCCTGCCTGTGTCCACCGTGCAGATGT

original cDNA sequence snippet

GTTTGGGAACCAGACCCTGCATGTGTCCACCGTGCAGATGT

altered cDNA sequence snippet

GTTTGGGAACCAGACCCTGCCTGTGTCCACCGTGCAGATGT

wildtype AA sequence

MSRGFWLAEP LAGTGPHPAP VAADSRGCSS VPRRHAPSRL SVSTPSRGPG ARMVGELRYR
EFRVPLGPGL HAYPDELIRQ RVGHDGHPEY QIRWLILRRG DEGDGGSGQV DCKAEHILLW
MSKDEIYANC HKMLGEDGQV IGPSQESAGE VGALDKSVLE EMETDVKSLI QRALRQLEEC
VGTIPPAPLL HTVHVLSAYA SIEPLTGVFK DPRVLDLLMH MLSSPDYQIR WSAGRMIQAL
SSHDAGEGQC GEEGKAGEGL GRLRDSQDTV AGASDLIRTR TQILLSLSQQ EAIEKHLDFD
SRCALLALFA QATLSEHPMS FEGIQLPQVP GRVLFSLVKR YLHVTSLLDQ LNDSAAEPGA
QNTSAPEELS GERGQLELEF SMAMGTLISE LVQAMRWDQA SDRPRSSARS PGSIFQPQLA
DVSPGLPAAQ AQPSFRRSRR FRPRSEFASG NTYALYVRDT LQPGMRVRML DDYEEISAGD
EGEFRQSNNG VPPVQVFWES TGRTYWVHWH MLEILGFEED IEDMVEADEY QGAVASRVLG
RALPAWRWRP MTELYAVPYV LPEDEDTEEC EHLTLAEWWE LLFFIKKLDG PDHQEVLQIL
QENLDGEILD DEILAELAVP IELAQDLLLT LPQRLNDSAL RDLINCHVYK KYGPEALAGN
QAYPSLLEAQ EDVLLLDAQA QAKDSEDAAK VEAKEPPSQS PNTPLQRLVE GYGPAGKILL
DLEQALSSEG TQENKVKPLL LQLQRQPQPF LALMQSLDTP ETNRTLHLTV LRILKQLVDF
PEALLLPWHE AVDACMACLR SPNTDREVLQ ELIFFLHRLT SVSRDYAVVL NQLGARDAIS
KALEKHLGKL ELAQELRDMV FKCEKHAHLY RKLITNILGG CIQMVLGQIE DHRRTHQPIN
IPFFDVFLRY LCQGSSVEVK EDKCWEKVEV SSNPHRASKL TDHNPKTYWE SNGSAGSHYI
TLHMRRGILI RQLTLLVASE DSSYMPARVV VCGGDSTSSL HTELNSVNVM PSASRVILLE
NLTRFWPIIQ IRIKRCQQGG IDTRIRGLEI LGPKPTFWPV FREQLCRHTR LFYMVRAQAW
SQDMAEDRRS LLHLSSRLNG ALRQEQNFAD RFLPDDEAAQ ALGKTCWEAL VSPVVQNITS
PDEDGISPLG WLLDQYLECQ EAVFNPQSRG PAFFSRVRRL THLLVHVEPC EAPPPVVATP
RPKGRNRSHD WSSLATRGLP SSIMRNLTRC WRAVVEKQVN NFLTSSWRDD DFVPRYCEHF
NILQNSSSEL FGPRAAFLLA LQNGCAGALL KLPFLKAAHV SEQFARHIDQ QIQGSRIGGA
QEMERLAQLQ QCLQAVLIFS GLEIATTFEH YYQHYMADRL LGVVSSWLEG AVLEQIGPCF
PNRLPQQMLQ SLSTSKELQR QFHVYQLQQL DQELLKLEDT EKKIQVGLGA SGKEHKSEKE
EEAGAAAVVD VAEGEEEEEE NEDLYYEGAM PEVSVLVLSR HSWPVASICH TLNPRTCLPS
YLRGTLNRYS NFYNKSQSHP ALERGSQRRL QWTWLGWAEL QFGNQTLHVS TVQMWLLLYL
NDLKAVSVES LLAFSGLSAD MLNQAIGPLT SSRGPLDLHE QKDIPGGVLK IRDGSKEPRS
RWDIVRLIPP QTYLQAEGED GQNLEKRRNL LNCLIVRILK AHGDEGLHID QLVCLVLEAW
QKGPCPPRGL VSSLGKGSAC SSTDVLSCIL HLLGKGTLRR HDDRPQVLSY AVPVTVMEPH
TESLNPGSSG PNPPLTFHTL QIRSRGVPYA SCTATQSFST FR*

mutated AA sequence

MSRGFWLAEP LAGTGPHPAP VAADSRGCSS VPRRHAPSRL SVSTPSRGPG ARMVGELRYR
EFRVPLGPGL HAYPDELIRQ RVGHDGHPEY QIRWLILRRG DEGDGGSGQV DCKAEHILLW
MSKDEIYANC HKMLGEDGQV IGPSQESAGE VGALDKSVLE EMETDVKSLI QRALRQLEEC
VGTIPPAPLL HTVHVLSAYA SIEPLTGVFK DPRVLDLLMH MLSSPDYQIR WSAGRMIQAL
SSHDAGEGQC GEEGKAGEGL GRLRDSQDTV AGASDLIRTR TQILLSLSQQ EAIEKHLDFD
SRCALLALFA QATLSEHPMS FEGIQLPQVP GRVLFSLVKR YLHVTSLLDQ LNDSAAEPGA
QNTSAPEELS GERGQLELEF SMAMGTLISE LVQAMRWDQA SDRPRSSARS PGSIFQPQLA
DVSPGLPAAQ AQPSFRRSRR FRPRSEFASG NTYALYVRDT LQPGMRVRML DDYEEISAGD
EGEFRQSNNG VPPVQVFWES TGRTYWVHWH MLEILGFEED IEDMVEADEY QGAVASRVLG
RALPAWRWRP MTELYAVPYV LPEDEDTEEC EHLTLAEWWE LLFFIKKLDG PDHQEVLQIL
QENLDGEILD DEILAELAVP IELAQDLLLT LPQRLNDSAL RDLINCHVYK KYGPEALAGN
QAYPSLLEAQ EDVLLLDAQA QAKDSEDAAK VEAKEPPSQS PNTPLQRLVE GYGPAGKILL
DLEQALSSEG TQENKVKPLL LQLQRQPQPF LALMQSLDTP ETNRTLHLTV LRILKQLVDF
PEALLLPWHE AVDACMACLR SPNTDREVLQ ELIFFLHRLT SVSRDYAVVL NQLGARDAIS
KALEKHLGKL ELAQELRDMV FKCEKHAHLY RKLITNILGG CIQMVLGQIE DHRRTHQPIN
IPFFDVFLRY LCQGSSVEVK EDKCWEKVEV SSNPHRASKL TDHNPKTYWE SNGSAGSHYI
TLHMRRGILI RQLTLLVASE DSSYMPARVV VCGGDSTSSL HTELNSVNVM PSASRVILLE
NLTRFWPIIQ IRIKRCQQGG IDTRIRGLEI LGPKPTFWPV FREQLCRHTR LFYMVRAQAW
SQDMAEDRRS LLHLSSRLNG ALRQEQNFAD RFLPDDEAAQ ALGKTCWEAL VSPVVQNITS
PDEDGISPLG WLLDQYLECQ EAVFNPQSRG PAFFSRVRRL THLLVHVEPC EAPPPVVATP
RPKGRNRSHD WSSLATRGLP SSIMRNLTRC WRAVVEKQVN NFLTSSWRDD DFVPRYCEHF
NILQNSSSEL FGPRAAFLLA LQNGCAGALL KLPFLKAAHV SEQFARHIDQ QIQGSRIGGA
QEMERLAQLQ QCLQAVLIFS GLEIATTFEH YYQHYMADRL LGVVSSWLEG AVLEQIGPCF
PNRLPQQMLQ SLSTSKELQR QFHVYQLQQL DQELLKLEDT EKKIQVGLGA SGKEHKSEKE
EEAGAAAVVD VAEGEEEEEE NEDLYYEGAM PEVSVLVLSR HSWPVASICH TLNPRTCLPS
YLRGTLNRYS NFYNKSQSHP ALERGSQRRL QWTWLGWAEL QFGNQTLPVS TVQMWLLLYL
NDLKAVSVES LLAFSGLSAD MLNQAIGPLT SSRGPLDLHE QKDIPGGVLK IRDGSKEPRS
RWDIVRLIPP QTYLQAEGED GQNLEKRRNL LNCLIVRILK AHGDEGLHID QLVCLVLEAW
QKGPCPPRGL VSSLGKGSAC SSTDVLSCIL HLLGKGTLRR HDDRPQVLSY AVPVTVMEPH
TESLNPGSSG PNPPLTFHTL QIRSRGVPYA SCTATQSFST FR*

speed

0.21 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems