Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999960351185 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CI163032)
  • known disease mutation at this position (HGMD CM061686)
  • known disease mutation: rs1335 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:88535064C>AN/A show variant in all transcripts   IGV
HGNC symbol CEP290
Ensembl transcript ID ENST00000309041
Genbank transcript ID N/A
UniProt peptide O15078
alteration type single base exchange
alteration region CDS
DNA changes c.21G>T
cDNA.119G>T
g.930G>T
AA changes W7C Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 7
frameshift no
known variant Reference ID: rs62635288
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1335 (pathogenic for Nephronophthisis|Joubert syndrome 5|Leber congenital amaurosis|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CI163032)

known disease mutation at this position, please check HGMD for details (HGMD ID CI163032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061686)

known disease mutation at this position, please check HGMD for details (HGMD ID CI163032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061686)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061686)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.2941
3.3451
(flanking)3.3451
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 increased928wt: 0.9972 / mu: 0.9980 (marginal change - not scored)wt: TAAACTGGAAAGAAA
mu: TAAACTGTAAAGAAA		 AACT|ggaa
Donor increased921wt: 0.30 / mu: 0.63wt: CCTAATATAAACTGG
mu: CCTAATATAAACTGT		 TAAT|ataa
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      7 MPPNINWKEIMKVDPDDLP
mutated  not conserved    7 MPPNINCKEIMKVDPDDLPRQE
Ptroglodytes  all identical  ENSPTRG00000005278  7 MPPNINWKEIMKVDPDDLPRQE
Mmulatta  all identical  ENSMMUG00000015862  7 MPPNINWKEIMKVDPDDLPRQE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000019971  7 MPPNIKWKELIKVDPDDLPRQE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000062727  7 MPAAADWRLLMGMDPEDLGDED
Dmelanogaster  no alignment  FBgn0035168  n/a
Celegans  no alignment  R07G3.3  n/a
Xtropicalis  all identical  ENSXETG00000011742  7 MPPSLDWGRLMKVDPDALPNQE
protein features
start (aa)end (aa)featuredetails 
59565COILEDPotential.might get lost (downstream of altered splice site)
544544CONFLICTS -> C (in Ref. 4; AK023677).might get lost (downstream of altered splice site)
598664COILEDPotential.might get lost (downstream of altered splice site)
697931COILEDPotential.might get lost (downstream of altered splice site)
718718CONFLICTE -> G (in Ref. 4; AK023677).might get lost (downstream of altered splice site)
9581027COILEDPotential.might get lost (downstream of altered splice site)
10711498COILEDPotential.might get lost (downstream of altered splice site)
12091209MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15331584COILEDPotential.might get lost (downstream of altered splice site)
16352452COILEDPotential.might get lost (downstream of altered splice site)
16971697MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23952395MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7446 / 7446
position (AA) of stopcodon in wt / mu AA sequence 2482 / 2482
position of stopcodon in wt / mu cDNA 7544 / 7544
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 99 / 99
chromosome 12
strand -1
last intron/exon boundary 7314
theoretical NMD boundary in CDS 7165
length of CDS 7446
coding sequence (CDS) position 21
cDNA position
(for ins/del: last normal base / first normal base)		 119
gDNA position
(for ins/del: last normal base / first normal base)		 930
chromosomal position
(for ins/del: last normal base / first normal base)		 88535064
original gDNA sequence snippet ATGCCACCTAATATAAACTGGAAAGAAATAATGAAAGTTGA
altered gDNA sequence snippet ATGCCACCTAATATAAACTGTAAAGAAATAATGAAAGTTGA
original cDNA sequence snippet ATGCCACCTAATATAAACTGGAAAGAAATAATGAAAGTTGA
altered cDNA sequence snippet ATGCCACCTAATATAAACTGTAAAGAAATAATGAAAGTTGA
wildtype AA sequence MPPNINWKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH LFRITQSLMK
MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRNEICQL
EKQLEQKDRE LEDMEKELEK EKKVNEQLAL RNEEAENENS KLRRENKRLK KKNEQLCQDI
IDYQKQIDSQ KETLLSRRGE DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR
KNLEESVQEM EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD
PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV MALQQGIQER
DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST LSQQTHMKIQ STLDILKEKT
KEAERTAELA EADAREKDKE LVEALKRLKD YESGVYGLED AVVEIKNCKN QIKIRDREIE
ILTKEINKLE LKISDFLDEN EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK
EASIESLEEE RLDLKKKIRQ MAQERGKRSA TSGLTTEDLN LTENISQGDR ISERKLDLLS
LKNMSEAQSK NEFLSRELIE KERDLERSRT VIAKFQNKLK ELVEENKQLE EGMKEILQAI
KEMQKDPDVK GGETSLIIPS LERLVNAIES KNAEGIFDAS LHLKAQVDQL TGRNEELRQE
LRESRKEAIN YSQQLAKANL KIDHLEKETS LLRQSEGSNV VFKGIDLPDG IAPSSASIIN
SQNEYLIHLL QELENKEKKL KNLEDSLEDY NRKFAVIRHQ QSLLYKEYLS EKETWKTESK
TIKEEKRKLE DQVQQDAIKV KEYNNLLNAL QMDSDEMKKI LAENSRKITV LQVNEKSLIR
QYTTLVELER QLRKENEKQK NELLSMEAEV CEKIGCLQRF KEMAIFKIAA LQKVVDNSVS
LSELELANKQ YNELTAKYRD ILQKDNMLVQ RTSNLEHLEC ENISLKEQVE SINKELEITK
EKLHTIEQAW EQETKLGNES SMDKAKKSIT NSDIVSISKK ITMLEMKELN ERQRAEHCQK
MYEHLRTSLK QMEERNFELE TKFAELTKIN LDAQKVEQML RDELADSVSK AVSDADRQRI
LELEKNEMEL KVEVSKLREI SDIARRQVEI LNAQQQSRDK EVESLRMQLL DYQAQSDEKS
LIAKLHQHNV SLQLSEATAL GKLESITSKL QKMEAYNLRL EQKLDEKEQA LYYARLEGRN
RAKHLRQTIQ SLRRQFSGAL PLAQQEKFSK TMIQLQNDKL KIMQEMKNSQ QEHRNMENKT
LEMELKLKGL EELISTLKDT KGAQKVINWH MKIEELRLQE LKLNRELVKD KEEIKYLNNI
ISEYERTISS LEEEIVQQNK FHEERQMAWD QREVDLERQL DIFDRQQNEI LNAAQKFEEA
TGSIPDPSLP LPNQLEIALR KIKENIRIIL ETRATCKSLE EKLKEKESAL RLAEQNILSR
DKVINELRLR LPATAEREKL IAELGRKEME PKSHHTLKIA HQTIANMQAR LNQKEEVLKK
YQRLLEKARE EQREIVKKHE EDLHILHHRL ELQADSSLNK FKQTAWDLMK QSPTPVPTNK
HFIRLAEMEQ TVAEQDDSLS SLLVKLKKVS QDLERQREIT ELKVKEFENI KLQLQENHED
EVKKVKAEVE DLKYLLDQSQ KESQCLKSEL QAQKEANSRA PTTTMRNLVE RLKSQLALKE
KQQKALSRAL LELRAEMTAA AEERIISATS QKEAHLNVQQ IVDRHTRELK TQVEDLNENL
LKLKEALKTS KNRENSLTDN LNDLNNELQK KQKAYNKILR EKEEIDQEND ELKRQIKRLT
SGLQGKPLTD NKQSLIEELQ RKVKKLENQL EGKVEEVDLK PMKEKNAKEE LIRWEEGKKW
QAKIEGIRNK LKEKEGEVFT LTKQLNTLKD LFAKADKEKL TLQRKLKTTG MTVDQVLGIR
ALESEKELEE LKKRNLDLEN DILYMRAHQA LPRDSVVEDL HLQNRYLQEK LHALEKQFSK
DTYSKPSISG IESDDHCQRE QELQKENLKL SSENIELKFQ LEQANKDLPR LKNQVRDLKE
MCEFLKKEKA EVQRKLGHVR GSGRSGKTIP ELEKTIGLMK KVVEKVQREN EQLKKASGIL
TSEKMANIEQ ENEKLKAELE KLKAHLGHQL SMHYESKTKG TEKIIAENER LRKELKKETD
AAEKLRIAKN NLEILNEKMT VQLEETGKRL QFAESRGPQL EGADSKSWKS IVVTRMYETK
LKELETDIAK KNQSITDLKQ LVKEATEREQ KVNKYNEDLE QQIKILKHVP EGAETEQGLK
RELQVLRLAN HQLDKEKAEL IHQIEANKDQ SGAESTIPDA DQLKEKIKDL ETQLKMSDLE
KQHLKEEIKK LKKELENFDP SFFEEIEDLK YNYKEEVKKN ILLEEKVKKL SEQLGVELTS
PVAASEEFED EEESPVNFPI Y*
mutated AA sequence MPPNINCKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH LFRITQSLMK
MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRNEICQL
EKQLEQKDRE LEDMEKELEK EKKVNEQLAL RNEEAENENS KLRRENKRLK KKNEQLCQDI
IDYQKQIDSQ KETLLSRRGE DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR
KNLEESVQEM EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD
PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV MALQQGIQER
DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST LSQQTHMKIQ STLDILKEKT
KEAERTAELA EADAREKDKE LVEALKRLKD YESGVYGLED AVVEIKNCKN QIKIRDREIE
ILTKEINKLE LKISDFLDEN EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK
EASIESLEEE RLDLKKKIRQ MAQERGKRSA TSGLTTEDLN LTENISQGDR ISERKLDLLS
LKNMSEAQSK NEFLSRELIE KERDLERSRT VIAKFQNKLK ELVEENKQLE EGMKEILQAI
KEMQKDPDVK GGETSLIIPS LERLVNAIES KNAEGIFDAS LHLKAQVDQL TGRNEELRQE
LRESRKEAIN YSQQLAKANL KIDHLEKETS LLRQSEGSNV VFKGIDLPDG IAPSSASIIN
SQNEYLIHLL QELENKEKKL KNLEDSLEDY NRKFAVIRHQ QSLLYKEYLS EKETWKTESK
TIKEEKRKLE DQVQQDAIKV KEYNNLLNAL QMDSDEMKKI LAENSRKITV LQVNEKSLIR
QYTTLVELER QLRKENEKQK NELLSMEAEV CEKIGCLQRF KEMAIFKIAA LQKVVDNSVS
LSELELANKQ YNELTAKYRD ILQKDNMLVQ RTSNLEHLEC ENISLKEQVE SINKELEITK
EKLHTIEQAW EQETKLGNES SMDKAKKSIT NSDIVSISKK ITMLEMKELN ERQRAEHCQK
MYEHLRTSLK QMEERNFELE TKFAELTKIN LDAQKVEQML RDELADSVSK AVSDADRQRI
LELEKNEMEL KVEVSKLREI SDIARRQVEI LNAQQQSRDK EVESLRMQLL DYQAQSDEKS
LIAKLHQHNV SLQLSEATAL GKLESITSKL QKMEAYNLRL EQKLDEKEQA LYYARLEGRN
RAKHLRQTIQ SLRRQFSGAL PLAQQEKFSK TMIQLQNDKL KIMQEMKNSQ QEHRNMENKT
LEMELKLKGL EELISTLKDT KGAQKVINWH MKIEELRLQE LKLNRELVKD KEEIKYLNNI
ISEYERTISS LEEEIVQQNK FHEERQMAWD QREVDLERQL DIFDRQQNEI LNAAQKFEEA
TGSIPDPSLP LPNQLEIALR KIKENIRIIL ETRATCKSLE EKLKEKESAL RLAEQNILSR
DKVINELRLR LPATAEREKL IAELGRKEME PKSHHTLKIA HQTIANMQAR LNQKEEVLKK
YQRLLEKARE EQREIVKKHE EDLHILHHRL ELQADSSLNK FKQTAWDLMK QSPTPVPTNK
HFIRLAEMEQ TVAEQDDSLS SLLVKLKKVS QDLERQREIT ELKVKEFENI KLQLQENHED
EVKKVKAEVE DLKYLLDQSQ KESQCLKSEL QAQKEANSRA PTTTMRNLVE RLKSQLALKE
KQQKALSRAL LELRAEMTAA AEERIISATS QKEAHLNVQQ IVDRHTRELK TQVEDLNENL
LKLKEALKTS KNRENSLTDN LNDLNNELQK KQKAYNKILR EKEEIDQEND ELKRQIKRLT
SGLQGKPLTD NKQSLIEELQ RKVKKLENQL EGKVEEVDLK PMKEKNAKEE LIRWEEGKKW
QAKIEGIRNK LKEKEGEVFT LTKQLNTLKD LFAKADKEKL TLQRKLKTTG MTVDQVLGIR
ALESEKELEE LKKRNLDLEN DILYMRAHQA LPRDSVVEDL HLQNRYLQEK LHALEKQFSK
DTYSKPSISG IESDDHCQRE QELQKENLKL SSENIELKFQ LEQANKDLPR LKNQVRDLKE
MCEFLKKEKA EVQRKLGHVR GSGRSGKTIP ELEKTIGLMK KVVEKVQREN EQLKKASGIL
TSEKMANIEQ ENEKLKAELE KLKAHLGHQL SMHYESKTKG TEKIIAENER LRKELKKETD
AAEKLRIAKN NLEILNEKMT VQLEETGKRL QFAESRGPQL EGADSKSWKS IVVTRMYETK
LKELETDIAK KNQSITDLKQ LVKEATEREQ KVNKYNEDLE QQIKILKHVP EGAETEQGLK
RELQVLRLAN HQLDKEKAEL IHQIEANKDQ SGAESTIPDA DQLKEKIKDL ETQLKMSDLE
KQHLKEEIKK LKKELENFDP SFFEEIEDLK YNYKEEVKKN ILLEEKVKKL SEQLGVELTS
PVAASEEFED EEESPVNFPI Y*
speed 0.71 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