Yum, tasty mutations...

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 no
known variant Reference ID: rs3814422
databasehomozygous (C/C)heterozygousallele carriers
1000G1799131092
ExAC21661136813534
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.6510
0.2730
(flanking)0.5640.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased183442wt: 0.2827 / mu: 0.3162 (marginal change - not scored)wt: CTCTGATGAAATTGT
mu: CTCTCATGAAATTGT		 CTGA|tgaa
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      928KPLLTMLREASDEIVAEKEAEVKL
mutated  not conserved    928KPLLTMLREASHEIVAEKEAEVK
Ptroglodytes  all identical  ENSPTRG00000016626  921---LTMLREASDEIVAEKEAEVK
Mmulatta  all conserved  ENSMMUG00000015748  699EASNEIVAEKEAEVK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031563  923--CLTMLREASDEPAALRESGVP
Ggallus  all identical  ENSGALG00000010668  919-----MLAEASDEIGDEEEDGIK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0262127  900GPLNE--PECSDDDDDDEEEEL-
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000025753  908-----MAPEESFSTLEEHEADLL
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 4
strand 1
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 1.12 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