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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000403733
Querying Taster for transcript #2: ENST00000513834
Querying Taster for transcript #3: ENST00000448232
Querying Taster for transcript #4: ENST00000504005
Querying Taster for transcript #5: ENST00000508747
MT speed 0 s - this script 4.971612 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
WWC2	polymorphism_automatic	1.33577038319288e-10	simple_aae				D32H	single base exchange	rs3814422		show file
WWC2	polymorphism_automatic	3.03570946158516e-10	simple_aae				D904H	single base exchange	rs3814422		show file
WWC2	polymorphism_automatic	3.03570946158516e-10	simple_aae				D855H	single base exchange	rs3814422		show file
WWC2	polymorphism_automatic	3.03570946158516e-10	simple_aae				D586H	single base exchange	rs3814422		show file
WWC2	polymorphism_automatic	1.63559699117855e-09	simple_aae				D928H	single base exchange	rs3814422		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999866423 (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)

chr4:184203886G>CN/A show variant in all transcripts IGV

HGNC symbol

WWC2

Ensembl transcript ID

ENST00000508747

Genbank transcript ID

N/A

UniProt peptide

Q6AWC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.94G>C
cDNA.127G>C
g.183441G>C

AA changes

D32H Score: 81 explain score(s)

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

frameshift

known variant

Reference ID: rs3814422

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	913	1092
ExAC	2166	11368	13534

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.651	0
	0.273	0
(flanking)	0.564	0.001

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	183442	wt: 0.2827 / mu: 0.3162 (marginal change - not scored)	wt: CTCTGATGAAATTGT mu: CTCTCATGAAATTGT	CTGA\|tgaa

distance from splice site

127

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000016626

902

Mmulatta

all conserved

ENSMMUG00000015748

699

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031563

904

Ggallus

all identical

ENSGALG00000010668

895

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0262127

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000025753

884

protein features

start (aa)	end (aa)	feature	details
10	43	DOMAIN	WW 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

963 / 963

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

321 / 321

position of stopcodon in wt / mu cDNA

996 / 996

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

34 / 34

chromosome

strand

last intron/exon boundary

930

theoretical NMD boundary in CDS

846

length of CDS

963

coding sequence (CDS) position

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

127

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

183441

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

184203886

original gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

original cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

wildtype AA sequence

MPRLRVHGAC LPTKSVLFLF YHRLTMLREA SDEIVAEKEA EVKLPEDSSC TEDLSSCTSV
PEMNEDGNRK ESNCAKDLRS QPPTRIPTLV DKETNTDEAA NDNMAVRPKE RSSLSSRQHP
FVRSSVIVRS QTFSPGERNQ YICRLNRSDS DSSTLAKKSL FVRNSTERRS LRVKRTVCQS
VLRRTTQECP VRTSLDLELD LQASLTRQSR LNDELQALRD LRQKLEELKA QGETDLPPGV
LEDERFQRLL KQAEKQAEQS KEEQKQGLNA EKLMRQVSKD VCRLREQSQK VPRQVQSFRE
KIAYFTRAKI SIPSLPADDV *

mutated AA sequence

MPRLRVHGAC LPTKSVLFLF YHRLTMLREA SHEIVAEKEA EVKLPEDSSC TEDLSSCTSV
PEMNEDGNRK ESNCAKDLRS QPPTRIPTLV DKETNTDEAA NDNMAVRPKE RSSLSSRQHP
FVRSSVIVRS QTFSPGERNQ YICRLNRSDS DSSTLAKKSL FVRNSTERRS LRVKRTVCQS
VLRRTTQECP VRTSLDLELD LQASLTRQSR LNDELQALRD LRQKLEELKA QGETDLPPGV
LEDERFQRLL KQAEKQAEQS KEEQKQGLNA EKLMRQVSKD VCRLREQSQK VPRQVQSFRE
KIAYFTRAKI SIPSLPADDV *

speed

0.66 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: 0.999999999696429 (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)

chr4:184203886G>CN/A show variant in all transcripts IGV

HGNC symbol

WWC2

Ensembl transcript ID

ENST00000403733

Genbank transcript ID

NM_024949

UniProt peptide

Q6AWC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2710G>C
cDNA.2909G>C
g.183441G>C

AA changes

D904H Score: 81 explain score(s)

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

904

frameshift

known variant

Reference ID: rs3814422

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	913	1092
ExAC	2166	11368	13534

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.651	0
	0.273	0
(flanking)	0.564	0.001

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	183442	wt: 0.2827 / mu: 0.3162 (marginal change - not scored)	wt: CTCTGATGAAATTGT mu: CTCTCATGAAATTGT	CTGA\|tgaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

904

mutated

not conserved

904

Ptroglodytes

all identical

ENSPTRG00000016626

902

Mmulatta

all conserved

ENSMMUG00000015748

698

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031563

904

Ggallus

all identical

ENSGALG00000010668

895

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0262127

874

RNQAPCM

ELLGLGPL

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000025753

884

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3579 / 3579

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

1193 / 1193

position of stopcodon in wt / mu cDNA

3778 / 3778

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

200 / 200

chromosome

strand

last intron/exon boundary

3712

theoretical NMD boundary in CDS

3462

length of CDS

3579

coding sequence (CDS) position

2710

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

2909

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

183441

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

184203886

original gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

original cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

wildtype AA sequence

MPRRAGSGQL PLPRGWEEAR DYDGKVFYID HNTRRTSWID PRDRLTKPLS FADCVGDELP
WGWEAGFDPQ IGVYYIDHIN KTTQIEDPRK QWRGEQEKML KDYLSVAQDA LRTQKELYHV
KEQRLALALD EYVRLNDAYK EKSSSHTSLF SGSSSSTKYD PDILKAEIST TRLRVKKLKR
ELSQMKQELL YKEQGFETLQ QIDKKMSGGQ SGYELSEAKA ILTELKSIRK AISSGEKEKQ
DLMQSLAKLQ ERFHLDQNIG RSEPDLRCSP VNSHLCLSRQ TLDAGSQTSI SGDIGVRSRS
NLAEKVRLSL QYEEAKRSMA NLKIELSKLD SEAWPGALDI EKEKLMLINE KEELLKELQF
VTPQKRTQDE LERLEAERQR LEEELLSVRG TPSRALAERL RLEERRKELL QKLEETTKLT
TYLHSQLKSL SASTLSMSSG SSLGSLASSR GSLNTSSRGS LNSLSSTELY YSSQSDQIDV
DYQYKLDFLL QEKSGYIPSG PITTIHENEV VKSPSQPGQS GLCGVAAAAT GHTPPLAEAP
KSVASLSSRS SLSSLSPPGS PLVLEGTFPM SSSHDASLHQ FTADFEDCEL SSHFADISLI
ENQILLDSDS GGASQSLSED KDLNECAREP LYEGTADVEK SLPKRRVIHL LGEKTTCVSA
AVSDESVAGD SGVYEAFVKQ PSEMEDVTYS EEDVAIVETA QVQIGLRYNA KSSSFMVIIA
QLRNLHAFLI PHTSKVYFRV AVLPSSTDVS CLFRTKVHPP TESILFNDVF RVAISQTALQ
QKTLRVDLCS VSKHRREECL AGTQISLADL PFSSEVFTLW YNLLPSKQMP CKKNEENEDS
VFQPNQPLVD SIDLDAVSAL LARTSAELLA VEQELAQEEE EESGQEEPRG PDGDWLTMLR
EASDEIVAEK EAEVKLPEDS SCTEDLSSCT SVPEMNEDGN RKESNCAKDL RSQPPTRIPT
LVDKETNTDE AANDNMAVRP KERSSLSSRQ HPFVRSSVIV RSQTFSPGER NQYICRLNRS
DSDSSTLAKK SLFVRNSTER RSLRVKRTVC QSVLRRTTQE CPVRTSLDLE LDLQASLTRQ
SRLNDELQAL RDLRQKLEEL KAQGETDLPP GVLEDERFQR LLKQAEKQAE QSKEEQKQGL
NAEKLMRQVS KDVCRLREQS QKVPRQVQSF REKIAYFTRA KISIPSLPAD DV*

mutated AA sequence

MPRRAGSGQL PLPRGWEEAR DYDGKVFYID HNTRRTSWID PRDRLTKPLS FADCVGDELP
WGWEAGFDPQ IGVYYIDHIN KTTQIEDPRK QWRGEQEKML KDYLSVAQDA LRTQKELYHV
KEQRLALALD EYVRLNDAYK EKSSSHTSLF SGSSSSTKYD PDILKAEIST TRLRVKKLKR
ELSQMKQELL YKEQGFETLQ QIDKKMSGGQ SGYELSEAKA ILTELKSIRK AISSGEKEKQ
DLMQSLAKLQ ERFHLDQNIG RSEPDLRCSP VNSHLCLSRQ TLDAGSQTSI SGDIGVRSRS
NLAEKVRLSL QYEEAKRSMA NLKIELSKLD SEAWPGALDI EKEKLMLINE KEELLKELQF
VTPQKRTQDE LERLEAERQR LEEELLSVRG TPSRALAERL RLEERRKELL QKLEETTKLT
TYLHSQLKSL SASTLSMSSG SSLGSLASSR GSLNTSSRGS LNSLSSTELY YSSQSDQIDV
DYQYKLDFLL QEKSGYIPSG PITTIHENEV VKSPSQPGQS GLCGVAAAAT GHTPPLAEAP
KSVASLSSRS SLSSLSPPGS PLVLEGTFPM SSSHDASLHQ FTADFEDCEL SSHFADISLI
ENQILLDSDS GGASQSLSED KDLNECAREP LYEGTADVEK SLPKRRVIHL LGEKTTCVSA
AVSDESVAGD SGVYEAFVKQ PSEMEDVTYS EEDVAIVETA QVQIGLRYNA KSSSFMVIIA
QLRNLHAFLI PHTSKVYFRV AVLPSSTDVS CLFRTKVHPP TESILFNDVF RVAISQTALQ
QKTLRVDLCS VSKHRREECL AGTQISLADL PFSSEVFTLW YNLLPSKQMP CKKNEENEDS
VFQPNQPLVD SIDLDAVSAL LARTSAELLA VEQELAQEEE EESGQEEPRG PDGDWLTMLR
EASHEIVAEK EAEVKLPEDS SCTEDLSSCT SVPEMNEDGN RKESNCAKDL RSQPPTRIPT
LVDKETNTDE AANDNMAVRP KERSSLSSRQ HPFVRSSVIV RSQTFSPGER NQYICRLNRS
DSDSSTLAKK SLFVRNSTER RSLRVKRTVC QSVLRRTTQE CPVRTSLDLE LDLQASLTRQ
SRLNDELQAL RDLRQKLEEL KAQGETDLPP GVLEDERFQR LLKQAEKQAE QSKEEQKQGL
NAEKLMRQVS KDVCRLREQS QKVPRQVQSF REKIAYFTRA KISIPSLPAD DV*

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999696429 (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)

chr4:184203886G>CN/A show variant in all transcripts IGV

HGNC symbol

WWC2

Ensembl transcript ID

ENST00000513834

Genbank transcript ID

N/A

UniProt peptide

Q6AWC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2563G>C
cDNA.2563G>C
g.183441G>C

AA changes

D855H Score: 81 explain score(s)

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

855

frameshift

known variant

Reference ID: rs3814422

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	913	1092
ExAC	2166	11368	13534

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.651	0
	0.273	0
(flanking)	0.564	0.001

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	183442	wt: 0.2827 / mu: 0.3162 (marginal change - not scored)	wt: CTCTGATGAAATTGT mu: CTCTCATGAAATTGT	CTGA\|tgaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

855

mutated

not conserved

855

Ptroglodytes

all identical

ENSPTRG00000016626

902

Mmulatta

all conserved

ENSMMUG00000015748

698

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031563

904

Ggallus

all identical

ENSGALG00000010668

895

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0262127

877

RNQAPCM

ELLGL

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000025753

888

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3432 / 3432

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

1144 / 1144

position of stopcodon in wt / mu cDNA

3432 / 3432

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

3366

theoretical NMD boundary in CDS

3315

length of CDS

3432

coding sequence (CDS) position

2563

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

2563

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

183441

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

184203886

original gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

original cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

wildtype AA sequence

MPRRAGSGQL PLPRGWEEAR DYDGKVFYID HNTRRTSWID PRDRLTKPLS FADCVGDELP
WGWEAGFDPQ IGVYYIDHIN KTTQIEDPRK QWRGEQEKML KDYLSVAQDA LRTQKELYHV
KEQRLALALD EYVRLNDAYK EKSSSHTSLF SGSSSSTKYD PDILKAEIST TRLRVKKLKR
ELSQMKQELL YKEQGFETLQ QIDKKMSGGQ SGYELSEAKA ILTELKSIRK AISSGEKEKQ
DLMQSLAKLQ ERFHLDQNIG RSEPDLRCSP VNSHLCLSRQ TLDAGSQTSI SGDIGVRSRS
NLAEKVRLSL QYEEAKRSMA NLKIELSKLD SEAWPGALDI EKEKLMLINE KEELLKELQF
VTPQKRTQDE LERLEAERQR LEEELLSVRG TPSRALAERL RLEERRKELL QKLEETTKLT
TYLHSQLKSL SASTLSMSSG SSLGSLASSR GSLNTSSRGS LNSLSSTELY YSSQSDQIDV
DYQYKLDFLL QEKSGYIPSG PITTIHENEV VKSPSQPGQS GLCGVAAAAT GHTPPLAEAP
KSVASLSSRS SLSSLSPPGS PLVLEGTFPM SSSHDASLHQ FTADFEDYVE KSLPKRRVIH
LLGEKTTCVS AAVSDESVAG DSGVYEAFVK QPSEMEDVTY SEEDVAIVET AQVQIGLRYN
AKSSSFMVII AQLRNLHAFL IPHTSKVYFR VAVLPSSTDV SCLFRTKVHP PTESILFNDV
FRVAISQTAL QQKTLRVDLC SVSKHRREEC LAGTQISLAD LPFSSEVFTL WYNLLPSKQM
PCKKNEENED SVFQPNQPLV DSIDLDAVSA LLARTSAELL AVEQELAQEE EEESGQEEPR
GPDGDWLTML REASDEIVAE KEAEVKLPED SSCTEDLSSC TSVPEMNEDG NRKESNCAKD
LRSQPPTRIP TLVDKETNTD EAANDNMAVR PKERSSLSSR QHPFVRSSVI VRSQTFSPGE
RNQYICRLNR SDSDSSTLAK KSLFVRNSTE RRSLRVKRTV CQSVLRRTTQ ECPVRTSLDL
ELDLQASLTR QSRLNDELQA LRDLRQKLEE LKAQGETDLP PGVLEDERFQ RLLKQAEKQA
EQSKEEQKQG LNAEKLMRQV SKDVCRLREQ SQKVPRQVQS FREKIAYFTR AKISIPSLPA
DDV*

mutated AA sequence

MPRRAGSGQL PLPRGWEEAR DYDGKVFYID HNTRRTSWID PRDRLTKPLS FADCVGDELP
WGWEAGFDPQ IGVYYIDHIN KTTQIEDPRK QWRGEQEKML KDYLSVAQDA LRTQKELYHV
KEQRLALALD EYVRLNDAYK EKSSSHTSLF SGSSSSTKYD PDILKAEIST TRLRVKKLKR
ELSQMKQELL YKEQGFETLQ QIDKKMSGGQ SGYELSEAKA ILTELKSIRK AISSGEKEKQ
DLMQSLAKLQ ERFHLDQNIG RSEPDLRCSP VNSHLCLSRQ TLDAGSQTSI SGDIGVRSRS
NLAEKVRLSL QYEEAKRSMA NLKIELSKLD SEAWPGALDI EKEKLMLINE KEELLKELQF
VTPQKRTQDE LERLEAERQR LEEELLSVRG TPSRALAERL RLEERRKELL QKLEETTKLT
TYLHSQLKSL SASTLSMSSG SSLGSLASSR GSLNTSSRGS LNSLSSTELY YSSQSDQIDV
DYQYKLDFLL QEKSGYIPSG PITTIHENEV VKSPSQPGQS GLCGVAAAAT GHTPPLAEAP
KSVASLSSRS SLSSLSPPGS PLVLEGTFPM SSSHDASLHQ FTADFEDYVE KSLPKRRVIH
LLGEKTTCVS AAVSDESVAG DSGVYEAFVK QPSEMEDVTY SEEDVAIVET AQVQIGLRYN
AKSSSFMVII AQLRNLHAFL IPHTSKVYFR VAVLPSSTDV SCLFRTKVHP PTESILFNDV
FRVAISQTAL QQKTLRVDLC SVSKHRREEC LAGTQISLAD LPFSSEVFTL WYNLLPSKQM
PCKKNEENED SVFQPNQPLV DSIDLDAVSA LLARTSAELL AVEQELAQEE EEESGQEEPR
GPDGDWLTML REASHEIVAE KEAEVKLPED SSCTEDLSSC TSVPEMNEDG NRKESNCAKD
LRSQPPTRIP TLVDKETNTD EAANDNMAVR PKERSSLSSR QHPFVRSSVI VRSQTFSPGE
RNQYICRLNR SDSDSSTLAK KSLFVRNSTE RRSLRVKRTV CQSVLRRTTQ ECPVRTSLDL
ELDLQASLTR QSRLNDELQA LRDLRQKLEE LKAQGETDLP PGVLEDERFQ RLLKQAEKQA
EQSKEEQKQG LNAEKLMRQV SKDVCRLREQ SQKVPRQVQS FREKIAYFTR AKISIPSLPA
DDV*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999696429 (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)

chr4:184203886G>CN/A show variant in all transcripts IGV

HGNC symbol

WWC2

Ensembl transcript ID

ENST00000504005

Genbank transcript ID

N/A

UniProt peptide

Q6AWC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1756G>C
cDNA.1804G>C
g.183441G>C

AA changes

D586H Score: 81 explain score(s)

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

586

frameshift

known variant

Reference ID: rs3814422

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	913	1092
ExAC	2166	11368	13534

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.651	0
	0.273	0
(flanking)	0.564	0.001

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	183442	wt: 0.2827 / mu: 0.3162 (marginal change - not scored)	wt: CTCTGATGAAATTGT mu: CTCTCATGAAATTGT	CTGA\|tgaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

586

mutated

not conserved

586

Ptroglodytes

all identical

ENSPTRG00000016626

903

Mmulatta

all conserved

ENSMMUG00000015748

698

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031563

904

Ggallus

all identical

ENSGALG00000010668

896

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0262127

877

RNQAPCM

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000025753

888

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2625 / 2625

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

875 / 875

position of stopcodon in wt / mu cDNA

2673 / 2673

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

49 / 49

chromosome

strand

last intron/exon boundary

2607

theoretical NMD boundary in CDS

2508

length of CDS

2625

coding sequence (CDS) position

1756

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

1804

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

183441

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

184203886

original gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

original cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

wildtype AA sequence

MANLKIELSK LDSEAWPGAL DIEKEKLMLI NEKEELLKEL QFVTPQKRTQ DELERLEAER
QRLEEELLSV RGTPSRALAE RLRLEERRKE LLQKLEETTK LTTYLHSQLK SLSASTLSMS
SGSSLGSLAS SRGSLNTSSR GSLNSLSSTE LYYSSQSDQI DVDYQYKLDF LLQEKSGYIP
SGPITTIHEN EVVKSPSQPG QSGLCGVAAA ATGHTPPLAE APKSVASLSS RSSLSSLSPP
GSPLVLEGTF PMSSSHDASL HQFTADFEDC ELSSHFADIS LIENQILLDS DSGGASQSLS
EDKDLNECAR EPLYEGTADV EKSLPKRRVI HLLGEKTTCV SAAVSDESVA GDSGVYEAFV
KQPSEMEDVT YSEEDVAIVE TAQVQIGLRY NAKSSSFMVI IAQLRNLHAF LIPHTSKVYF
RVAVLPSSTD VSCLFRTKVH PPTESILFND VFRVAISQTA LQQKTLRVDL CSVSKHRREE
CLAGTQISLA DLPFSSEVFT LWYNLLPSKQ MPCKKNEENE DSVFQPNQPL VDSIDLDAVS
ALLARTSAEL LAVEQELAQE EEEESGQEEP RGPDGDWLTM LREASDEIVA EKEAEVKLPE
DSSCTEDLSS CTSVPEMNED GNRKESNCAK DLRSQPPTRI PTLVDKETNT DEAANDNMAV
RPKERSSLSS RQHPFVRSSV IVRSQTFSPG ERNQYICRLN RSDSDSSTLA KKSLFVRNST
ERRSLRVKRT VCQSVLRRTT QECPVRTSLD LELDLQASLT RQSRLNDELQ ALRDLRQKLE
ELKAQGETDL PPGVLEDERF QRLLKQAEKQ AEQSKEEQKQ GLNAEKLMRQ VSKDVCRLRE
QSQKVPRQVQ SFREKIAYFT RAKISIPSLP ADDV*

mutated AA sequence

MANLKIELSK LDSEAWPGAL DIEKEKLMLI NEKEELLKEL QFVTPQKRTQ DELERLEAER
QRLEEELLSV RGTPSRALAE RLRLEERRKE LLQKLEETTK LTTYLHSQLK SLSASTLSMS
SGSSLGSLAS SRGSLNTSSR GSLNSLSSTE LYYSSQSDQI DVDYQYKLDF LLQEKSGYIP
SGPITTIHEN EVVKSPSQPG QSGLCGVAAA ATGHTPPLAE APKSVASLSS RSSLSSLSPP
GSPLVLEGTF PMSSSHDASL HQFTADFEDC ELSSHFADIS LIENQILLDS DSGGASQSLS
EDKDLNECAR EPLYEGTADV EKSLPKRRVI HLLGEKTTCV SAAVSDESVA GDSGVYEAFV
KQPSEMEDVT YSEEDVAIVE TAQVQIGLRY NAKSSSFMVI IAQLRNLHAF LIPHTSKVYF
RVAVLPSSTD VSCLFRTKVH PPTESILFND VFRVAISQTA LQQKTLRVDL CSVSKHRREE
CLAGTQISLA DLPFSSEVFT LWYNLLPSKQ MPCKKNEENE DSVFQPNQPL VDSIDLDAVS
ALLARTSAEL LAVEQELAQE EEEESGQEEP RGPDGDWLTM LREASHEIVA EKEAEVKLPE
DSSCTEDLSS CTSVPEMNED GNRKESNCAK DLRSQPPTRI PTLVDKETNT DEAANDNMAV
RPKERSSLSS RQHPFVRSSV IVRSQTFSPG ERNQYICRLN RSDSDSSTLA KKSLFVRNST
ERRSLRVKRT VCQSVLRRTT QECPVRTSLD LELDLQASLT RQSRLNDELQ ALRDLRQKLE
ELKAQGETDL PPGVLEDERF QRLLKQAEKQ AEQSKEEQKQ GLNAEKLMRQ VSKDVCRLRE
QSQKVPRQVQ SFREKIAYFT RAKISIPSLP ADDV*

speed

1.23 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999998364403 (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)

chr4:184203886G>CN/A show variant in all transcripts IGV

HGNC symbol

WWC2

Ensembl transcript ID

ENST00000448232

Genbank transcript ID

N/A

UniProt peptide

Q6AWC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2782G>C
cDNA.2782G>C
g.183441G>C

AA changes

D928H Score: 81 explain score(s)

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

928

frameshift

known variant

Reference ID: rs3814422

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	913	1092
ExAC	2166	11368	13534

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.651	0
	0.273	0
(flanking)	0.564	0.001

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	183442	wt: 0.2827 / mu: 0.3162 (marginal change - not scored)	wt: CTCTGATGAAATTGT mu: CTCTCATGAAATTGT	CTGA\|tgaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

928

mutated

not conserved

928

Ptroglodytes

all identical

ENSPTRG00000016626

921

Mmulatta

all conserved

ENSMMUG00000015748

699

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031563

923

Ggallus

all identical

ENSGALG00000010668

919

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0262127

900

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000025753

908

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3651 / 3651

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

1217 / 1217

position of stopcodon in wt / mu cDNA

3651 / 3651

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

3585

theoretical NMD boundary in CDS

3534

length of CDS

3651

coding sequence (CDS) position

2782

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

2782

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

183441

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

184203886

original gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

original cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

wildtype AA sequence

MPRRAGSGQL PLPRGWEEAR DYDGKVFYID HNTRRTSWID PRDRLTKPLS FADCVGDELP
WGWEAGFDPQ IGVYYIDHIN KTTQIEDPRK QWRGEQEKML KDYLSVAQDA LRTQKELYHV
KEQRLALALD EYVRLNDAYK EKSSSHTSLF SGSSSSTKYD PDILKAEIST TRLRVKKLKR
ELSQMKQELL YKEQGFETLQ QIDKKMSGGQ SGYELSEAKA ILTELKSIRK AISSGEKEKQ
DLMQSLAKLQ ERFHLDQNIG RSEPDLRCSP VNSHLCLSRQ TLDAGSQTSI SGDIGVRSRS
NLAEKVRLSL QYEEAKRSMA NLKIELSKLD SEAWPGALDI EKEKLMLINE KEELLKELQF
VTPQKRTQDE LERLEAERQR LEEELLSVRG TPSRALAERL RLEERRKELL QKLEETTKLT
TYLHSQLKSL SASTLSMSSG SSLGSLASSR GSLNTSSRGS LNSLSSTELY YSSQSDQIDV
DYQYKLDFLL QEKSGYIPSG PITTIHENEV VKSPSQPGQS GLCGVAAAAT GHTPPLAEAP
KSVASLSSRS SLSSLSPPGS PLVLEGTFPM SSSHDASLHQ FTADFEDCEL SSHFADISLI
ENQILLDSDS GGASQSLSED KDLNECAREP LYEGTADVEK SLPKRRVIHL LGEKTTCVSA
AVSDESVAGD SGVYEAFVKQ PSEMEDVTYS EEDVAIVETA QVQIGLRYNA KSSSFMVIIA
QLRNLHAFLI PHTSKVYFRV AVLPSSTDVS CLFRTKVHPP TESILFNDVF RVAISQTALQ
QKTLRVDLCS VSKHRREECL AGTQISLADL PFSSEVFTLW YNLLPSKQMP CKKNEENEDS
VFQPNQPLVD SIDLDAVSAL LARTSAELLA VEQELAQEEE EESGQEEPRG PDGDWLNTYF
LCCWELKDDV FTRLTVKPLL TMLREASDEI VAEKEAEVKL PEDSSCTEDL SSCTSVPEMN
EDGNRKESNC AKDLRSQPPT RIPTLVDKET NTDEAANDNM AVRPKERSSL SSRQHPFVRS
SVIVRSQTFS PGERNQYICR LNRSDSDSST LAKKSLFVRN STERRSLRVK RTVCQSVLRR
TTQECPVRTS LDLELDLQAS LTRQSRLNDE LQALRDLRQK LEELKAQGET DLPPGVLEDE
RFQRLLKQAE KQAEQSKEEQ KQGLNAEKLM RQVSKDVCRL REQSQKVPRQ VQSFREKIAY
FTRAKISIPS LPADDV*

mutated AA sequence

MPRRAGSGQL PLPRGWEEAR DYDGKVFYID HNTRRTSWID PRDRLTKPLS FADCVGDELP
WGWEAGFDPQ IGVYYIDHIN KTTQIEDPRK QWRGEQEKML KDYLSVAQDA LRTQKELYHV
KEQRLALALD EYVRLNDAYK EKSSSHTSLF SGSSSSTKYD PDILKAEIST TRLRVKKLKR
ELSQMKQELL YKEQGFETLQ QIDKKMSGGQ SGYELSEAKA ILTELKSIRK AISSGEKEKQ
DLMQSLAKLQ ERFHLDQNIG RSEPDLRCSP VNSHLCLSRQ TLDAGSQTSI SGDIGVRSRS
NLAEKVRLSL QYEEAKRSMA NLKIELSKLD SEAWPGALDI EKEKLMLINE KEELLKELQF
VTPQKRTQDE LERLEAERQR LEEELLSVRG TPSRALAERL RLEERRKELL QKLEETTKLT
TYLHSQLKSL SASTLSMSSG SSLGSLASSR GSLNTSSRGS LNSLSSTELY YSSQSDQIDV
DYQYKLDFLL QEKSGYIPSG PITTIHENEV VKSPSQPGQS GLCGVAAAAT GHTPPLAEAP
KSVASLSSRS SLSSLSPPGS PLVLEGTFPM SSSHDASLHQ FTADFEDCEL SSHFADISLI
ENQILLDSDS GGASQSLSED KDLNECAREP LYEGTADVEK SLPKRRVIHL LGEKTTCVSA
AVSDESVAGD SGVYEAFVKQ PSEMEDVTYS EEDVAIVETA QVQIGLRYNA KSSSFMVIIA
QLRNLHAFLI PHTSKVYFRV AVLPSSTDVS CLFRTKVHPP TESILFNDVF RVAISQTALQ
QKTLRVDLCS VSKHRREECL AGTQISLADL PFSSEVFTLW YNLLPSKQMP CKKNEENEDS
VFQPNQPLVD SIDLDAVSAL LARTSAELLA VEQELAQEEE EESGQEEPRG PDGDWLNTYF
LCCWELKDDV FTRLTVKPLL TMLREASHEI VAEKEAEVKL PEDSSCTEDL SSCTSVPEMN
EDGNRKESNC AKDLRSQPPT RIPTLVDKET NTDEAANDNM AVRPKERSSL SSRQHPFVRS
SVIVRSQTFS PGERNQYICR LNRSDSDSST LAKKSLFVRN STERRSLRVK RTVCQSVLRR
TTQECPVRTS LDLELDLQAS LTRQSRLNDE LQALRDLRQK LEELKAQGET DLPPGVLEDE
RFQRLLKQAE KQAEQSKEEQ KQGLNAEKLM RQVSKDVCRL REQSQKVPRQ VQSFREKIAY
FTRAKISIPS LPADDV*

speed

0.85 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

Problems