Yum, tasty mutations...

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 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      586GDWLTMLREASDEIVAEKEAEVKL
mutated  not conserved    586GDWLTMLREASHEIVAEKEAEVK
Ptroglodytes  all identical  ENSPTRG00000016626  903GDWLTMLREASDEIVAEKEAEVK
Mmulatta  all conserved  ENSMMUG00000015748  698GDWLTMLREASNEIVAEKEAEVK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031563  904RDCLTMLREASDEPAALRESGVP
Ggallus  all identical  ENSGALG00000010668  896EDWLEMLAEASDEIGDEEEDG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0262127  877SQTSTLTRNQAPCMELQEQMAAE
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000025753  888DDWPEMAPEESFSTLEEHEADLL
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 4
strand 1
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 1.24 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