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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000309182
Querying Taster for transcript #2: ENST00000446363
Querying Taster for transcript #3: ENST00000419248
Querying Taster for transcript #4: ENST00000409644
Querying Taster for transcript #5: ENST00000437219
Querying Taster for transcript #6: ENST00000545662
MT speed 0 s - this script 5.011319 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
WDR81	polymorphism_automatic	5.99520433297585e-15	simple_aae				M174V	single base exchange	rs587780503		show file
WDR81	polymorphism_automatic	5.99520433297585e-15	simple_aae				M308V	single base exchange	rs587780503		show file
WDR81	polymorphism_automatic	5.99520433297585e-15	simple_aae				M166V	single base exchange	rs587780503		show file
WDR81	polymorphism_automatic	5.99520433297585e-15	simple_aae				M1535V	single base exchange	rs587780503		show file
WDR81	polymorphism_automatic	5.99520433297585e-15	simple_aae				M332V	single base exchange	rs587780503		show file
WDR81	polymorphism_automatic	8.99280649946377e-15	simple_aae				M484V	single base exchange	rs587780503		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999994 (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)

chr17:1636934A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR81

Ensembl transcript ID

ENST00000446363

Genbank transcript ID

N/A

UniProt peptide

Q562E7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.520A>G
cDNA.942A>G
g.17118A>G

AA changes

M174V Score: 21 explain score(s)

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

174

frameshift

known variant

Reference ID: rs587780503

database	homozygous (G/G)	heterozygous	allele carriers
1000G	220	957	1177
ExAC	4815	22219	27034

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.184	0.019
	-0.445	0
(flanking)	0.056	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

174

mutated

all conserved

174

Ptroglodytes

all conserved

ENSPTRG00000008535

1535

Mmulatta

all conserved

ENSMMUG00000002380

604

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000045374

1528

Ggallus

no alignment

ENSGALG00000002972

n/a

Trubripes

not conserved

ENSTRUG00000002991

509

AAGF

Drerio

not conserved

ENSDARG00000079702

1619

MGRQMSRSPF

Dmelanogaster

not conserved

FBgn0032395

1569

Celegans

not conserved

F52C9.1

1076

Xtropicalis

not conserved

ENSXETG00000013545

465

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1743 / 1743

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

581 / 581

position of stopcodon in wt / mu cDNA

2165 / 2165

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

423 / 423

chromosome

strand

last intron/exon boundary

1845

theoretical NMD boundary in CDS

1372

length of CDS

1743

coding sequence (CDS) position

520

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

942

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

17118

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

1636934

original gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

original cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

wildtype AA sequence

MDILPRISHE VLLPVLSFLT SLVTGFPSGA QARTILCVKT ISLIALICLR IGQEMVQQHL
SEPVATFFQV FSQLHELRQQ DLKLDPAGRG EGQLPQVVFS DGQQRPVDPA LLDELQKVFT
LEMAYTIYVP FSCLLGDIIR KIIPNHELVG ELAALYLESI SPSSRNPASV EPTMPGTGPE
WDPHGGGCPQ DDGHSGTFGS VLVGNRIQIP NDSRPENPGP LGPISGVGGG GLGSGSDDNA
LKQELPRSVH GLSGNWLAYW QYEIGVSQQD AHFHFHQIRL QSFPGHSGAV KCVAPLSSED
FFLSGSKDRT VRLWPLYNYG DGTSETAPRL VYTQHRKSVF FVGQLEAPQH VVSCDGAVHV
WDPFTGKTLR TVEPLDSRVP LTAVAVMPAP HTSITMASSD STLRFVDCRK PGLQHEFRLG
GGLNPGLVRA LAISPSGRSV VAGFSSGFMV LLDTRTGLVL RGWPAHEGDI LQIKAVEGSV
LVSSSSDHSL TVWKELEQKP THHYKSASDP IHTFDLYGSE VVTGTVSNKI GVCSLLEPPS
QATTKLSSEN FRGTLTSLAL LPTKRHLLLG SDNGVIRLLA *

mutated AA sequence

MDILPRISHE VLLPVLSFLT SLVTGFPSGA QARTILCVKT ISLIALICLR IGQEMVQQHL
SEPVATFFQV FSQLHELRQQ DLKLDPAGRG EGQLPQVVFS DGQQRPVDPA LLDELQKVFT
LEMAYTIYVP FSCLLGDIIR KIIPNHELVG ELAALYLESI SPSSRNPASV EPTVPGTGPE
WDPHGGGCPQ DDGHSGTFGS VLVGNRIQIP NDSRPENPGP LGPISGVGGG GLGSGSDDNA
LKQELPRSVH GLSGNWLAYW QYEIGVSQQD AHFHFHQIRL QSFPGHSGAV KCVAPLSSED
FFLSGSKDRT VRLWPLYNYG DGTSETAPRL VYTQHRKSVF FVGQLEAPQH VVSCDGAVHV
WDPFTGKTLR TVEPLDSRVP LTAVAVMPAP HTSITMASSD STLRFVDCRK PGLQHEFRLG
GGLNPGLVRA LAISPSGRSV VAGFSSGFMV LLDTRTGLVL RGWPAHEGDI LQIKAVEGSV
LVSSSSDHSL TVWKELEQKP THHYKSASDP IHTFDLYGSE VVTGTVSNKI GVCSLLEPPS
QATTKLSSEN FRGTLTSLAL LPTKRHLLLG SDNGVIRLLA *

speed

0.75 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: 0.999999999999994 (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)

chr17:1636934A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR81

Ensembl transcript ID

ENST00000419248

Genbank transcript ID

NM_001163811

UniProt peptide

Q562E7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.922A>G
cDNA.1183A>G
g.17118A>G

AA changes

M308V Score: 21 explain score(s)

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

308

frameshift

known variant

Reference ID: rs587780503

database	homozygous (G/G)	heterozygous	allele carriers
1000G	220	957	1177
ExAC	4815	22219	27034

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.184	0.019
	-0.445	0
(flanking)	0.056	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

308

mutated

all conserved

308

Ptroglodytes

all conserved

ENSPTRG00000008535

1535

Mmulatta

all conserved

ENSMMUG00000002380

604

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000045374

1528

Ggallus

no alignment

ENSGALG00000002972

n/a

Trubripes

not conserved

ENSTRUG00000002991

506

STSSAAGF

Drerio

not conserved

ENSDARG00000079702

1610

GGQRASAVG

MGRQMSRSPF

Dmelanogaster

not conserved

FBgn0032395

1567

Celegans

not conserved

F52C9.1

1060

Xtropicalis

not conserved

ENSXETG00000013545

465

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2145 / 2145

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

715 / 715

position of stopcodon in wt / mu cDNA

2406 / 2406

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

262 / 262

chromosome

strand

last intron/exon boundary

2086

theoretical NMD boundary in CDS

1774

length of CDS

2145

coding sequence (CDS) position

922

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

1183

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

17118

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

1636934

original gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

original cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

wildtype AA sequence

MVRWLSAKLG PTVASRHVAR NLLRLLTSCY VGPTRQQFTV SSGESPPLSA GNIYQKRPVL
GDIVSGPVLS CLLHIARLYG EPVLTYQYLP YISYLVAPGS ASGPSRLNSR KEAGLLAAVT
LTQKIIVYLS DTTLMDILPR ISHEVLLPVL SFLTSLVTGF PSGAQARTIL CVKTISLIAL
ICLRIGQEMV QQHLSEPVAT FFQVFSQLHE LRQQDLKLDP AGRGEGQLPQ VVFSDGQQRP
VDPALLDELQ KVFTLEMAYT IYVPFSCLLG DIIRKIIPNH ELVGELAALY LESISPSSRN
PASVEPTMPG TGPEWDPHGG GCPQDDGHSG TFGSVLVGNR IQIPNDSRPE NPGPLGPISG
VGGGGLGSGS DDNALKQELP RSVHGLSGNW LAYWQYEIGV SQQDAHFHFH QIRLQSFPGH
SGAVKCVAPL SSEDFFLSGS KDRTVRLWPL YNYGDGTSET APRLVYTQHR KSVFFVGQLE
APQHVVSCDG AVHVWDPFTG KTLRTVEPLD SRVPLTAVAV MPAPHTSITM ASSDSTLRFV
DCRKPGLQHE FRLGGGLNPG LVRALAISPS GRSVVAGFSS GFMVLLDTRT GLVLRGWPAH
EGDILQIKAV EGSVLVSSSS DHSLTVWKEL EQKPTHHYKS ASDPIHTFDL YGSEVVTGTV
SNKIGVCSLL EPPSQATTKL SSENFRGTLT SLALLPTKRH LLLGSDNGVI RLLA*

mutated AA sequence

MVRWLSAKLG PTVASRHVAR NLLRLLTSCY VGPTRQQFTV SSGESPPLSA GNIYQKRPVL
GDIVSGPVLS CLLHIARLYG EPVLTYQYLP YISYLVAPGS ASGPSRLNSR KEAGLLAAVT
LTQKIIVYLS DTTLMDILPR ISHEVLLPVL SFLTSLVTGF PSGAQARTIL CVKTISLIAL
ICLRIGQEMV QQHLSEPVAT FFQVFSQLHE LRQQDLKLDP AGRGEGQLPQ VVFSDGQQRP
VDPALLDELQ KVFTLEMAYT IYVPFSCLLG DIIRKIIPNH ELVGELAALY LESISPSSRN
PASVEPTVPG TGPEWDPHGG GCPQDDGHSG TFGSVLVGNR IQIPNDSRPE NPGPLGPISG
VGGGGLGSGS DDNALKQELP RSVHGLSGNW LAYWQYEIGV SQQDAHFHFH QIRLQSFPGH
SGAVKCVAPL SSEDFFLSGS KDRTVRLWPL YNYGDGTSET APRLVYTQHR KSVFFVGQLE
APQHVVSCDG AVHVWDPFTG KTLRTVEPLD SRVPLTAVAV MPAPHTSITM ASSDSTLRFV
DCRKPGLQHE FRLGGGLNPG LVRALAISPS GRSVVAGFSS GFMVLLDTRT GLVLRGWPAH
EGDILQIKAV EGSVLVSSSS DHSLTVWKEL EQKPTHHYKS ASDPIHTFDL YGSEVVTGTV
SNKIGVCSLL EPPSQATTKL SSENFRGTLT SLALLPTKRH LLLGSDNGVI RLLA*

speed

1.09 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999994 (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)

chr17:1636934A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR81

Ensembl transcript ID

ENST00000545662

Genbank transcript ID

N/A

UniProt peptide

Q562E7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.496A>G
cDNA.664A>G
g.17118A>G

AA changes

M166V Score: 21 explain score(s)

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

166

frameshift

known variant

Reference ID: rs587780503

database	homozygous (G/G)	heterozygous	allele carriers
1000G	220	957	1177
ExAC	4815	22219	27034

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.184	0.019
	-0.445	0
(flanking)	0.056	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

166

mutated

all conserved

166

Ptroglodytes

all conserved

ENSPTRG00000008535

1535

Mmulatta

all conserved

ENSMMUG00000002380

604

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000045374

1528

Ggallus

no alignment

ENSGALG00000002972

n/a

Trubripes

not conserved

ENSTRUG00000002991

504

STSSAAGF

Drerio

not conserved

ENSDARG00000079702

1609

SPE

GGQRASAVG

MGRQMSRSPF

Dmelanogaster

not conserved

FBgn0032395

1570

Celegans

not conserved

F52C9.1

1071

Xtropicalis

not conserved

ENSXETG00000013545

465

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1719 / 1719

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

573 / 573

position of stopcodon in wt / mu cDNA

1887 / 1887

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

169 / 169

chromosome

strand

last intron/exon boundary

1567

theoretical NMD boundary in CDS

1348

length of CDS

1719

coding sequence (CDS) position

496

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

664

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

17118

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

1636934

original gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

original cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

wildtype AA sequence

MGSLSSPTST CPTSATWFPS GAQARTILCV KTISLIALIC LRIGQEMVQQ HLSEPVATFF
QVFSQLHELR QQDLKLDPAG RGEGQLPQVV FSDGQQRPVD PALLDELQKV FTLEMAYTIY
VPFSCLLGDI IRKIIPNHEL VGELAALYLE SISPSSRNPA SVEPTMPGTG PEWDPHGGGC
PQDDGHSGTF GSVLVGNRIQ IPNDSRPENP GPLGPISGVG GGGLGSGSDD NALKQELPRS
VHGLSGNWLA YWQYEIGVSQ QDAHFHFHQI RLQSFPGHSG AVKCVAPLSS EDFFLSGSKD
RTVRLWPLYN YGDGTSETAP RLVYTQHRKS VFFVGQLEAP QHVVSCDGAV HVWDPFTGKT
LRTVEPLDSR VPLTAVAVMP APHTSITMAS SDSTLRFVDC RKPGLQHEFR LGGGLNPGLV
RALAISPSGR SVVAGFSSGF MVLLDTRTGL VLRGWPAHEG DILQIKAVEG SVLVSSSSDH
SLTVWKELEQ KPTHHYKSAS DPIHTFDLYG SEVVTGTVSN KIGVCSLLEP PSQATTKLSS
ENFRGTLTSL ALLPTKRHLL LGSDNGVIRL LA*

mutated AA sequence

MGSLSSPTST CPTSATWFPS GAQARTILCV KTISLIALIC LRIGQEMVQQ HLSEPVATFF
QVFSQLHELR QQDLKLDPAG RGEGQLPQVV FSDGQQRPVD PALLDELQKV FTLEMAYTIY
VPFSCLLGDI IRKIIPNHEL VGELAALYLE SISPSSRNPA SVEPTVPGTG PEWDPHGGGC
PQDDGHSGTF GSVLVGNRIQ IPNDSRPENP GPLGPISGVG GGGLGSGSDD NALKQELPRS
VHGLSGNWLA YWQYEIGVSQ QDAHFHFHQI RLQSFPGHSG AVKCVAPLSS EDFFLSGSKD
RTVRLWPLYN YGDGTSETAP RLVYTQHRKS VFFVGQLEAP QHVVSCDGAV HVWDPFTGKT
LRTVEPLDSR VPLTAVAVMP APHTSITMAS SDSTLRFVDC RKPGLQHEFR LGGGLNPGLV
RALAISPSGR SVVAGFSSGF MVLLDTRTGL VLRGWPAHEG DILQIKAVEG SVLVSSSSDH
SLTVWKELEQ KPTHHYKSAS DPIHTFDLYG SEVVTGTVSN KIGVCSLLEP PSQATTKLSS
ENFRGTLTSL ALLPTKRHLL LGSDNGVIRL LA*

speed

0.84 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999994 (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)

chr17:1636934A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR81

Ensembl transcript ID

ENST00000409644

Genbank transcript ID

NM_001163809

UniProt peptide

Q562E7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4603A>G
cDNA.4603A>G
g.17118A>G

AA changes

M1535V Score: 21 explain score(s)

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

1535

frameshift

known variant

Reference ID: rs587780503

database	homozygous (G/G)	heterozygous	allele carriers
1000G	220	957	1177
ExAC	4815	22219	27034

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.184	0.019
	-0.445	0
(flanking)	0.056	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1535

mutated

all conserved

1535

Ptroglodytes

all conserved

ENSPTRG00000008535

1535

Mmulatta

all conserved

ENSMMUG00000002380

604

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000045374

1528

Ggallus

no alignment

ENSGALG00000002972

n/a

Trubripes

not conserved

ENSTRUG00000002991

504

STSSAAGF

Drerio

not conserved

ENSDARG00000079702

1609

SPE

PVGGQR

Dmelanogaster

not conserved

FBgn0032395

1567

Celegans

not conserved

F52C9.1

1060

Xtropicalis

not conserved

ENSXETG00000013545

465

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5826 / 5826

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

1942 / 1942

position of stopcodon in wt / mu cDNA

5826 / 5826

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

last intron/exon boundary

5506

theoretical NMD boundary in CDS

5455

length of CDS

5826

coding sequence (CDS) position

4603

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

4603

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

17118

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

1636934

original gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

original cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

wildtype AA sequence

MAQGSGGREG ALRTPAGGWH SPPSPDMQEL LRSVERDLSI DPRQLAPAPG GTHVVALVPA
RWLASLRDRR LPLGPCPRAE GLGEAEVRTL LQRSVQRLPA GWTRVEVHGL RKRRLSYPLG
GGLPFEDGSC GPETLTRFMQ EVAAQNYRNL WRHAYHTYGQ PYSHSPAPSA VPALDSVRQA
LQRVYGCSFL PVGETTQCPS YAREGPCPPR GSPACPSLLR AEALLESPEM LYVVHPYVQF
SLHDVVTFSP AKLTNSQAKV LFILFRVLRA MDACHRQGLA CGALSLYHIA VDEKLCSELR
LDLSAYERPE EDENEEAPVA RDEAGIVSQE EQGGQPGQPT GQEELRSLVL DWVHGRISNF
HYLMQLNRLA GRRQGDPNYH PVLPWVVDFT TPHGRFRDLR KSKFRLNKGD KQLDFTYEMT
RQAFVAGGAG GGEPPHVPHH ISDVLSDITY YVYKARRTPR SVLCGHVRAQ WEPHEYPASM
ERMQNWTPDE CIPEFYTDPS IFRSIHPDMP DLDVPAWCSS SQEFVAAHRA LLESREVSRD
LHHWIDLTFG YKLQGKEAVK EKNVCLHLVD AHTHLASYGV VQLFDQPHPQ RLAGAPALAP
EPPLIPKLLV QTIQETTGRE DFTENPGQLP NGVGRPVLEA TPCEASWTRD RPVAGEDDLE
QATEALDSIS LAGKAGDQLG SSSQASPGLL SFSVASASRP GRRNKAAGAD PGEGEEGRIL
LPEGFNPMQA LEELEKTGNF LAKGLGGLLE VPEQPRVQPA VPLQCLLHRD MQALGVLLAE
MVFATRVRTL QPDAPLWVRF QAVRGLCTRH PKEVPVSLQP VLDTLLQMSG PEVPMGAERG
KLDQLFEYRP VSQGLPPPCP SQLLSPFSSV VPFPPYFPAL HRFILLYQAR RVEDEAQGRE
LVFALWQQLG AVLKDITPEG LEILLPFVLS LMSEEHTAVY TAWYLFEPVA KALGPKNANK
YLLKPLIGAY ESPCQLHGRF YLYTDCFVAQ LMVRLGLQAF LTHLLPHVLQ VLAGAEASQE
ESKDLAGAAE EEESGLPGAG PGSCAFGEEI PMDGEPPASS GLGLPDYTSG VSFHDQADLP
ETEDFQAGLY VTESPQPQEA EAVSLGRLSD KSSTSETSLG EERAPDEGGA PVDKSSLRSG
DSSQDLKQSE GSEEEEEEED SCVVLEEEEG EQEEVTGASE LTLSDTVLSM ETVVAGGSGG
DGEEEEEALP EQSEGKEQKI LLDTACKMVR WLSAKLGPTV ASRHVARNLL RLLTSCYVGP
TRQQFTVSSG ESPPLSAGNI YQKRPVLGDI VSGPVLSCLL HIARLYGEPV LTYQYLPYIS
YLVAPGSASG PSRLNSRKEA GLLAAVTLTQ KIIVYLSDTT LMDILPRISH EVLLPVLSFL
TSLVTGFPSG AQARTILCVK TISLIALICL RIGQEMVQQH LSEPVATFFQ VFSQLHELRQ
QDLKLDPAGR GEGQLPQVVF SDGQQRPVDP ALLDELQKVF TLEMAYTIYV PFSCLLGDII
RKIIPNHELV GELAALYLES ISPSSRNPAS VEPTMPGTGP EWDPHGGGCP QDDGHSGTFG
SVLVGNRIQI PNDSRPENPG PLGPISGVGG GGLGSGSDDN ALKQELPRSV HGLSGNWLAY
WQYEIGVSQQ DAHFHFHQIR LQSFPGHSGA VKCVAPLSSE DFFLSGSKDR TVRLWPLYNY
GDGTSETAPR LVYTQHRKSV FFVGQLEAPQ HVVSCDGAVH VWDPFTGKTL RTVEPLDSRV
PLTAVAVMPA PHTSITMASS DSTLRFVDCR KPGLQHEFRL GGGLNPGLVR ALAISPSGRS
VVAGFSSGFM VLLDTRTGLV LRGWPAHEGD ILQIKAVEGS VLVSSSSDHS LTVWKELEQK
PTHHYKSASD PIHTFDLYGS EVVTGTVSNK IGVCSLLEPP SQATTKLSSE NFRGTLTSLA
LLPTKRHLLL GSDNGVIRLL A*

mutated AA sequence

MAQGSGGREG ALRTPAGGWH SPPSPDMQEL LRSVERDLSI DPRQLAPAPG GTHVVALVPA
RWLASLRDRR LPLGPCPRAE GLGEAEVRTL LQRSVQRLPA GWTRVEVHGL RKRRLSYPLG
GGLPFEDGSC GPETLTRFMQ EVAAQNYRNL WRHAYHTYGQ PYSHSPAPSA VPALDSVRQA
LQRVYGCSFL PVGETTQCPS YAREGPCPPR GSPACPSLLR AEALLESPEM LYVVHPYVQF
SLHDVVTFSP AKLTNSQAKV LFILFRVLRA MDACHRQGLA CGALSLYHIA VDEKLCSELR
LDLSAYERPE EDENEEAPVA RDEAGIVSQE EQGGQPGQPT GQEELRSLVL DWVHGRISNF
HYLMQLNRLA GRRQGDPNYH PVLPWVVDFT TPHGRFRDLR KSKFRLNKGD KQLDFTYEMT
RQAFVAGGAG GGEPPHVPHH ISDVLSDITY YVYKARRTPR SVLCGHVRAQ WEPHEYPASM
ERMQNWTPDE CIPEFYTDPS IFRSIHPDMP DLDVPAWCSS SQEFVAAHRA LLESREVSRD
LHHWIDLTFG YKLQGKEAVK EKNVCLHLVD AHTHLASYGV VQLFDQPHPQ RLAGAPALAP
EPPLIPKLLV QTIQETTGRE DFTENPGQLP NGVGRPVLEA TPCEASWTRD RPVAGEDDLE
QATEALDSIS LAGKAGDQLG SSSQASPGLL SFSVASASRP GRRNKAAGAD PGEGEEGRIL
LPEGFNPMQA LEELEKTGNF LAKGLGGLLE VPEQPRVQPA VPLQCLLHRD MQALGVLLAE
MVFATRVRTL QPDAPLWVRF QAVRGLCTRH PKEVPVSLQP VLDTLLQMSG PEVPMGAERG
KLDQLFEYRP VSQGLPPPCP SQLLSPFSSV VPFPPYFPAL HRFILLYQAR RVEDEAQGRE
LVFALWQQLG AVLKDITPEG LEILLPFVLS LMSEEHTAVY TAWYLFEPVA KALGPKNANK
YLLKPLIGAY ESPCQLHGRF YLYTDCFVAQ LMVRLGLQAF LTHLLPHVLQ VLAGAEASQE
ESKDLAGAAE EEESGLPGAG PGSCAFGEEI PMDGEPPASS GLGLPDYTSG VSFHDQADLP
ETEDFQAGLY VTESPQPQEA EAVSLGRLSD KSSTSETSLG EERAPDEGGA PVDKSSLRSG
DSSQDLKQSE GSEEEEEEED SCVVLEEEEG EQEEVTGASE LTLSDTVLSM ETVVAGGSGG
DGEEEEEALP EQSEGKEQKI LLDTACKMVR WLSAKLGPTV ASRHVARNLL RLLTSCYVGP
TRQQFTVSSG ESPPLSAGNI YQKRPVLGDI VSGPVLSCLL HIARLYGEPV LTYQYLPYIS
YLVAPGSASG PSRLNSRKEA GLLAAVTLTQ KIIVYLSDTT LMDILPRISH EVLLPVLSFL
TSLVTGFPSG AQARTILCVK TISLIALICL RIGQEMVQQH LSEPVATFFQ VFSQLHELRQ
QDLKLDPAGR GEGQLPQVVF SDGQQRPVDP ALLDELQKVF TLEMAYTIYV PFSCLLGDII
RKIIPNHELV GELAALYLES ISPSSRNPAS VEPTVPGTGP EWDPHGGGCP QDDGHSGTFG
SVLVGNRIQI PNDSRPENPG PLGPISGVGG GGLGSGSDDN ALKQELPRSV HGLSGNWLAY
WQYEIGVSQQ DAHFHFHQIR LQSFPGHSGA VKCVAPLSSE DFFLSGSKDR TVRLWPLYNY
GDGTSETAPR LVYTQHRKSV FFVGQLEAPQ HVVSCDGAVH VWDPFTGKTL RTVEPLDSRV
PLTAVAVMPA PHTSITMASS DSTLRFVDCR KPGLQHEFRL GGGLNPGLVR ALAISPSGRS
VVAGFSSGFM VLLDTRTGLV LRGWPAHEGD ILQIKAVEGS VLVSSSSDHS LTVWKELEQK
PTHHYKSASD PIHTFDLYGS EVVTGTVSNK IGVCSLLEPP SQATTKLSSE NFRGTLTSLA
LLPTKRHLLL GSDNGVIRLL A*

speed

0.84 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999994 (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)

chr17:1636934A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR81

Ensembl transcript ID

ENST00000437219

Genbank transcript ID

NM_001163673

UniProt peptide

Q562E7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.994A>G
cDNA.1047A>G
g.17118A>G

AA changes

M332V Score: 21 explain score(s)

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

332

frameshift

known variant

Reference ID: rs587780503

database	homozygous (G/G)	heterozygous	allele carriers
1000G	220	957	1177
ExAC	4815	22219	27034

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.184	0.019
	-0.445	0
(flanking)	0.056	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

332

mutated

all conserved

332

Ptroglodytes

all conserved

ENSPTRG00000008535

1535

Mmulatta

all conserved

ENSMMUG00000002380

604

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000045374

1528

Ggallus

no alignment

ENSGALG00000002972

n/a

Trubripes

not conserved

ENSTRUG00000002991

504

STSSAAGF

Drerio

not conserved

ENSDARG00000079702

1609

SPE

GGQRASAVG

MGRQMSRSPF

Dmelanogaster

not conserved

FBgn0032395

1567

Celegans

not conserved

F52C9.1

1060

Xtropicalis

not conserved

ENSXETG00000013545

465

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2217 / 2217

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

739 / 739

position of stopcodon in wt / mu cDNA

2270 / 2270

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

54 / 54

chromosome

strand

last intron/exon boundary

1950

theoretical NMD boundary in CDS

1846

length of CDS

2217

coding sequence (CDS) position

994

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

1047

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

17118

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

1636934

original gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

original cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

wildtype AA sequence

MLVRVVLSLT PSFPEPSALY TACKMVRWLS AKLGPTVASR HVARNLLRLL TSCYVGPTRQ
QFTVSSGESP PLSAGNIYQK RPVLGDIVSG PVLSCLLHIA RLYGEPVLTY QYLPYISYLV
APGSASGPSR LNSRKEAGLL AAVTLTQKII VYLSDTTLMD ILPRISHEVL LPVLSFLTSL
VTGFPSGAQA RTILCVKTIS LIALICLRIG QEMVQQHLSE PVATFFQVFS QLHELRQQDL
KLDPAGRGEG QLPQVVFSDG QQRPVDPALL DELQKVFTLE MAYTIYVPFS CLLGDIIRKI
IPNHELVGEL AALYLESISP SSRNPASVEP TMPGTGPEWD PHGGGCPQDD GHSGTFGSVL
VGNRIQIPND SRPENPGPLG PISGVGGGGL GSGSDDNALK QELPRSVHGL SGNWLAYWQY
EIGVSQQDAH FHFHQIRLQS FPGHSGAVKC VAPLSSEDFF LSGSKDRTVR LWPLYNYGDG
TSETAPRLVY TQHRKSVFFV GQLEAPQHVV SCDGAVHVWD PFTGKTLRTV EPLDSRVPLT
AVAVMPAPHT SITMASSDST LRFVDCRKPG LQHEFRLGGG LNPGLVRALA ISPSGRSVVA
GFSSGFMVLL DTRTGLVLRG WPAHEGDILQ IKAVEGSVLV SSSSDHSLTV WKELEQKPTH
HYKSASDPIH TFDLYGSEVV TGTVSNKIGV CSLLEPPSQA TTKLSSENFR GTLTSLALLP
TKRHLLLGSD NGVIRLLA*

mutated AA sequence

MLVRVVLSLT PSFPEPSALY TACKMVRWLS AKLGPTVASR HVARNLLRLL TSCYVGPTRQ
QFTVSSGESP PLSAGNIYQK RPVLGDIVSG PVLSCLLHIA RLYGEPVLTY QYLPYISYLV
APGSASGPSR LNSRKEAGLL AAVTLTQKII VYLSDTTLMD ILPRISHEVL LPVLSFLTSL
VTGFPSGAQA RTILCVKTIS LIALICLRIG QEMVQQHLSE PVATFFQVFS QLHELRQQDL
KLDPAGRGEG QLPQVVFSDG QQRPVDPALL DELQKVFTLE MAYTIYVPFS CLLGDIIRKI
IPNHELVGEL AALYLESISP SSRNPASVEP TVPGTGPEWD PHGGGCPQDD GHSGTFGSVL
VGNRIQIPND SRPENPGPLG PISGVGGGGL GSGSDDNALK QELPRSVHGL SGNWLAYWQY
EIGVSQQDAH FHFHQIRLQS FPGHSGAVKC VAPLSSEDFF LSGSKDRTVR LWPLYNYGDG
TSETAPRLVY TQHRKSVFFV GQLEAPQHVV SCDGAVHVWD PFTGKTLRTV EPLDSRVPLT
AVAVMPAPHT SITMASSDST LRFVDCRKPG LQHEFRLGGG LNPGLVRALA ISPSGRSVVA
GFSSGFMVLL DTRTGLVLRG WPAHEGDILQ IKAVEGSVLV SSSSDHSLTV WKELEQKPTH
HYKSASDPIH TFDLYGSEVV TGTVSNKIGV CSLLEPPSQA TTKLSSENFR GTLTSLALLP
TKRHLLLGSD NGVIRLLA*

speed

0.94 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999991 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:1636934A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR81

Ensembl transcript ID

ENST00000309182

Genbank transcript ID

NM_152348

UniProt peptide

Q562E7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1450A>G
cDNA.1671A>G
g.17118A>G

AA changes

M484V Score: 21 explain score(s)

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

484

frameshift

known variant

Reference ID: rs587780503

database	homozygous (G/G)	heterozygous	allele carriers
1000G	220	957	1177
ExAC	4815	22219	27034

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.184	0.019
	-0.445	0
(flanking)	0.056	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

484

mutated

all conserved

484

Ptroglodytes

all conserved

ENSPTRG00000008535

1535

Mmulatta

all conserved

ENSMMUG00000002380

604

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000045374

1528

Ggallus

no alignment

ENSGALG00000002972

n/a

Trubripes

not conserved

ENSTRUG00000002991

504

STSSAAGF

Drerio

not conserved

ENSDARG00000079702

1609

SPE

GGQRASAVG

MGRQMSRSPF

Dmelanogaster

not conserved

FBgn0032395

1570

Celegans

not conserved

F52C9.1

1060

Xtropicalis

not conserved

ENSXETG00000013545

466

protein features

start (aa)	end (aa)	feature	details
337	614	DOMAIN	BEACH.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2673 / 2673

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

891 / 891

position of stopcodon in wt / mu cDNA

2894 / 2894

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

222 / 222

chromosome

strand

last intron/exon boundary

2574

theoretical NMD boundary in CDS

2302

length of CDS

2673

coding sequence (CDS) position

1450

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

1671

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

17118

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

1636934

original gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered gDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

original cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG

altered cDNA sequence snippet

CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG

wildtype AA sequence

MDGEPPASSG LGLPDYTSGV SFHDQADLPE TEDFQAGLYV TESPQPQEAE AVSLGRLSDK
SSTSETSLGE ERAPDEGGAP VDKSSLRSGD SSQDLKQSEG SEEEEEEEDS CVVLEEEEGE
QEEVTGASEL TLSDTVLSME TVVAGGSGGD GEEEEEALPE QSEGKEQKIL LDTACKMVRW
LSAKLGPTVA SRHVARNLLR LLTSCYVGPT RQQFTVSSGE SPPLSAGNIY QKRPVLGDIV
SGPVLSCLLH IARLYGEPVL TYQYLPYISY LVAPGSASGP SRLNSRKEAG LLAAVTLTQK
IIVYLSDTTL MDILPRISHE VLLPVLSFLT SLVTGFPSGA QARTILCVKT ISLIALICLR
IGQEMVQQHL SEPVATFFQV FSQLHELRQQ DLKLDPAGRG EGQLPQVVFS DGQQRPVDPA
LLDELQKVFT LEMAYTIYVP FSCLLGDIIR KIIPNHELVG ELAALYLESI SPSSRNPASV
EPTMPGTGPE WDPHGGGCPQ DDGHSGTFGS VLVGNRIQIP NDSRPENPGP LGPISGVGGG
GLGSGSDDNA LKQELPRSVH GLSGNWLAYW QYEIGVSQQD AHFHFHQIRL QSFPGHSGAV
KCVAPLSSED FFLSGSKDRT VRLWPLYNYG DGTSETAPRL VYTQHRKSVF FVGQLEAPQH
VVSCDGAVHV WDPFTGKTLR TVEPLDSRVP LTAVAVMPAP HTSITMASSD STLRFVDCRK
PGLQHEFRLG GGLNPGLVRA LAISPSGRSV VAGFSSGFMV LLDTRTGLVL RGWPAHEGDI
LQIKAVEGSV LVSSSSDHSL TVWKELEQKP THHYKSASDP IHTFDLYGSE VVTGTVSNKI
GVCSLLEPPS QATTKLSSEN FRGTLTSLAL LPTKRHLLLG SDNGVIRLLA *

mutated AA sequence

MDGEPPASSG LGLPDYTSGV SFHDQADLPE TEDFQAGLYV TESPQPQEAE AVSLGRLSDK
SSTSETSLGE ERAPDEGGAP VDKSSLRSGD SSQDLKQSEG SEEEEEEEDS CVVLEEEEGE
QEEVTGASEL TLSDTVLSME TVVAGGSGGD GEEEEEALPE QSEGKEQKIL LDTACKMVRW
LSAKLGPTVA SRHVARNLLR LLTSCYVGPT RQQFTVSSGE SPPLSAGNIY QKRPVLGDIV
SGPVLSCLLH IARLYGEPVL TYQYLPYISY LVAPGSASGP SRLNSRKEAG LLAAVTLTQK
IIVYLSDTTL MDILPRISHE VLLPVLSFLT SLVTGFPSGA QARTILCVKT ISLIALICLR
IGQEMVQQHL SEPVATFFQV FSQLHELRQQ DLKLDPAGRG EGQLPQVVFS DGQQRPVDPA
LLDELQKVFT LEMAYTIYVP FSCLLGDIIR KIIPNHELVG ELAALYLESI SPSSRNPASV
EPTVPGTGPE WDPHGGGCPQ DDGHSGTFGS VLVGNRIQIP NDSRPENPGP LGPISGVGGG
GLGSGSDDNA LKQELPRSVH GLSGNWLAYW QYEIGVSQQD AHFHFHQIRL QSFPGHSGAV
KCVAPLSSED FFLSGSKDRT VRLWPLYNYG DGTSETAPRL VYTQHRKSVF FVGQLEAPQH
VVSCDGAVHV WDPFTGKTLR TVEPLDSRVP LTAVAVMPAP HTSITMASSD STLRFVDCRK
PGLQHEFRLG GGLNPGLVRA LAISPSGRSV VAGFSSGFMV LLDTRTGLVL RGWPAHEGDI
LQIKAVEGSV LVSSSSDHSL TVWKELEQKP THHYKSASDP IHTFDLYGSE VVTGTVSNKI
GVCSLLEPPS QATTKLSSEN FRGTLTSLAL LPTKRHLLLG SDNGVIRLLA *

speed

1.03 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems