Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99847581942708 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:22969232G>AN/A show variant in all transcripts   IGV
HGNC symbol CYFIP1
Ensembl transcript ID ENST00000560848
Genbank transcript ID N/A
UniProt peptide Q7L576
alteration type single base exchange
alteration region CDS
DNA changes c.2458G>A
cDNA.2649G>A
g.77228G>A
AA changes G820S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 820
frameshift no
known variant Reference ID: rs7170637
databasehomozygous (A/A)heterozygousallele carriers
1000G339653992
ExAC33751611119486
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5751
2.5581
(flanking)6.0431
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772280.87mu: TGGACAGCTTCGACG GACA|gctt
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      820HKLLSRYLTLDGFDAMFREANHNV
mutated  not conserved    820HKLLSRYLTLDSFDAMFREANHN
Ptroglodytes  not conserved  ENSPTRG00000006818  820HKLLSRYLTLDSFDAMFREANHN
Mmulatta  not conserved  ENSMMUG00000003890  818HKLLSRYLTLDSFDAMFREANHN
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030447  820HKLLSRYLTLDSFDAMFREANHN
Ggallus  not conserved  ENSGALG00000016736  821HKLLSRYMTLDSFDAMFREANHN
Trubripes  not conserved  ENSTRUG00000009773  828HKLLSKFLTLDSFNAMFREANHN
Drerio  not conserved  ENSDARG00000044345  824HKLLSKYLTLDSIDAMFREANHN
Dmelanogaster  not conserved  FBgn0038320  839LALDNFDGMVKEANHN
Celegans  not conserved  F56A11.1  822HTLLSDVLHSIAPFDDLFQEANH
Xtropicalis  not conserved  ENSXETG00000004138  824HKLLSKYLTLDSFDAMFREANHN
protein features
start (aa)end (aa)featuredetails 
821828HELIXmight get lost (downstream of altered splice site)
832836STRANDmight get lost (downstream of altered splice site)
838849HELIXmight get lost (downstream of altered splice site)
841841MUTAGENL->A: Constitutive induction of the formation of actin filaments; when associated with 844-A-A-845.might get lost (downstream of altered splice site)
844845MUTAGENFW->AA: Constitutive induction of the formation of actin filaments; when associated with A-841.might get lost (downstream of altered splice site)
851854HELIXmight get lost (downstream of altered splice site)
855858STRANDmight get lost (downstream of altered splice site)
859862TURNmight get lost (downstream of altered splice site)
863866STRANDmight get lost (downstream of altered splice site)
869871HELIXmight get lost (downstream of altered splice site)
885887HELIXmight get lost (downstream of altered splice site)
892901HELIXmight get lost (downstream of altered splice site)
898898CONFLICTY -> H (in Ref. 1; AAW51478 and 3; BAC86825).might get lost (downstream of altered splice site)
902906HELIXmight get lost (downstream of altered splice site)
911942HELIXmight get lost (downstream of altered splice site)
930930CONFLICTM -> R (in Ref. 1; AAW51478 and 3; BAC86825).might get lost (downstream of altered splice site)
944955HELIXmight get lost (downstream of altered splice site)
965967HELIXmight get lost (downstream of altered splice site)
969979HELIXmight get lost (downstream of altered splice site)
981984HELIXmight get lost (downstream of altered splice site)
987992TURNmight get lost (downstream of altered splice site)
9931025HELIXmight get lost (downstream of altered splice site)
10261029HELIXmight get lost (downstream of altered splice site)
10431053HELIXmight get lost (downstream of altered splice site)
10551057HELIXmight get lost (downstream of altered splice site)
10591066HELIXmight get lost (downstream of altered splice site)
10681068MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10691083HELIXmight get lost (downstream of altered splice site)
10861088HELIXmight get lost (downstream of altered splice site)
10901092STRANDmight get lost (downstream of altered splice site)
10931101HELIXmight get lost (downstream of altered splice site)
11071110TURNmight get lost (downstream of altered splice site)
11211123STRANDmight get lost (downstream of altered splice site)
11271139HELIXmight get lost (downstream of altered splice site)
11491153HELIXmight get lost (downstream of altered splice site)
11561167HELIXmight get lost (downstream of altered splice site)
11711177HELIXmight get lost (downstream of altered splice site)
11761176CONFLICTV -> A (in Ref. 1; AAW51479).might get lost (downstream of altered splice site)
11791190HELIXmight get lost (downstream of altered splice site)
11971197MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
12011225HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3762 / 3762
position (AA) of stopcodon in wt / mu AA sequence 1254 / 1254
position of stopcodon in wt / mu cDNA 3953 / 3953
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 192 / 192
chromosome 15
strand 1
last intron/exon boundary 3789
theoretical NMD boundary in CDS 3547
length of CDS 3762
coding sequence (CDS) position 2458
cDNA position
(for ins/del: last normal base / first normal base)		 2649
gDNA position
(for ins/del: last normal base / first normal base)		 77228
chromosomal position
(for ins/del: last normal base / first normal base)		 22969232
original gDNA sequence snippet GCCGGTACCTGACGCTGGACGGCTTCGACGCCATGTTCCGG
altered gDNA sequence snippet GCCGGTACCTGACGCTGGACAGCTTCGACGCCATGTTCCGG
original cDNA sequence snippet GCCGGTACCTGACGCTGGACGGCTTCGACGCCATGTTCCGG
altered cDNA sequence snippet GCCGGTACCTGACGCTGGACAGCTTCGACGCCATGTTCCGG
wildtype AA sequence MAAQVTLEDA LSNVDLLEEL PLPDQQPCIE PPPSSLLYQP NFNTNFEDRN AFVTGIARYI
EQATVHSSMN EMLEEGQEYA VMLYTWRSCS RAIPQVKCNE QPNRVEIYEK TVEVLEPEVT
KLMNFMYFQR NAIERFCGEV RRLCHAERRK DFVSEAYLIT LGKFINMFAV LDELKNMKCS
VKNDHSAYKR AAQFLRKMAD PQSIQESQNL SMFLANHNKI TQSLQQQLEV ISGYEELLAD
IVNLCVDYYE NRMYLTPSEK HMLLKVMGFG LYLMDGSVSN IYKLDAKKRI NLSKIDKYFK
QLQVVPLFGD MQIELARYIK TSAHYEENKS RWTCTSSGSS PQYNICEQMI QIREDHMRFI
SELARYSNSE VVTGSGRQEA QKTDAEYRKL FDLALQGLQL LSQWSAHVME VYSWKLVHPT
DKYSNKDCPD SAEEYERATR YNYTSEEKFA LVEVIAMIKG LQVLMGRMES VFNHAIRHTV
YAALQDFSQV TLREPLRQAI KKKKNVIQSV LQAIRKTVCD WETGHEPFND PALRGEKDPK
SGFDIKVPRR AVGPSSTQLY MVRTMLESLI ADKSGSKKTL RSSLEGPTIL DIEKFHRESF
FYTHLINFSE TLQQCCDLSQ LWFREFFLEL TMGRRIQFPI EMSMPWILTD HILETKEASM
MEYVLYSLDL YNDSAHYALT RFNKQFLYDE IEAEVNLCFD QFVYKLADQI FAYYKVMAGS
LLLDKRLRSE CKNQGATIHL PPSNRYETLL KQRHVQLLGR SIDLNRLITQ RVSAAMYKSL
ELAIGRFESE DLTSIVELDG LLEINRMTHK LLSRYLTLDG FDAMFREANH NVSAPYGRIT
LHVFWELNYD FLPNYCYNGS TNRFVRTVLP FSQEFQRDKQ PNAQPQYLHG SKALNLAYSS
IYGSYRNFVG PPHFQVICRL LGYQGIAVVM EELLKVVKSL LQGTILQYVK TLMEVMPKIC
RLPRHEYGSP GILEFFHHQL KDIVEYAELK TVCFQNLREV GNAILFCLLI EQSLSLEEVC
DLLHAAPFQN ILPRVHVKEG ERLDAKMKRL ESKYAPLHLV PLIERLGTPQ QIAIAREGDL
LTKERLCCGL SMFEVILTRI RSFLDDPIWR GPLPSNGVMH VDECVEFHRL WSAMQFVYCI
PVGTHEFTVE QCFGDGLHWA GCMIIVLLGQ QRRFAVLDFC YHLLKVQKHD GKDEIIKNVP
LKKMVERIRK FQILNDEIIT ILDKYLKSGD GEGTPVEHVR CFQPPIHQSL ASS*
mutated AA sequence MAAQVTLEDA LSNVDLLEEL PLPDQQPCIE PPPSSLLYQP NFNTNFEDRN AFVTGIARYI
EQATVHSSMN EMLEEGQEYA VMLYTWRSCS RAIPQVKCNE QPNRVEIYEK TVEVLEPEVT
KLMNFMYFQR NAIERFCGEV RRLCHAERRK DFVSEAYLIT LGKFINMFAV LDELKNMKCS
VKNDHSAYKR AAQFLRKMAD PQSIQESQNL SMFLANHNKI TQSLQQQLEV ISGYEELLAD
IVNLCVDYYE NRMYLTPSEK HMLLKVMGFG LYLMDGSVSN IYKLDAKKRI NLSKIDKYFK
QLQVVPLFGD MQIELARYIK TSAHYEENKS RWTCTSSGSS PQYNICEQMI QIREDHMRFI
SELARYSNSE VVTGSGRQEA QKTDAEYRKL FDLALQGLQL LSQWSAHVME VYSWKLVHPT
DKYSNKDCPD SAEEYERATR YNYTSEEKFA LVEVIAMIKG LQVLMGRMES VFNHAIRHTV
YAALQDFSQV TLREPLRQAI KKKKNVIQSV LQAIRKTVCD WETGHEPFND PALRGEKDPK
SGFDIKVPRR AVGPSSTQLY MVRTMLESLI ADKSGSKKTL RSSLEGPTIL DIEKFHRESF
FYTHLINFSE TLQQCCDLSQ LWFREFFLEL TMGRRIQFPI EMSMPWILTD HILETKEASM
MEYVLYSLDL YNDSAHYALT RFNKQFLYDE IEAEVNLCFD QFVYKLADQI FAYYKVMAGS
LLLDKRLRSE CKNQGATIHL PPSNRYETLL KQRHVQLLGR SIDLNRLITQ RVSAAMYKSL
ELAIGRFESE DLTSIVELDG LLEINRMTHK LLSRYLTLDS FDAMFREANH NVSAPYGRIT
LHVFWELNYD FLPNYCYNGS TNRFVRTVLP FSQEFQRDKQ PNAQPQYLHG SKALNLAYSS
IYGSYRNFVG PPHFQVICRL LGYQGIAVVM EELLKVVKSL LQGTILQYVK TLMEVMPKIC
RLPRHEYGSP GILEFFHHQL KDIVEYAELK TVCFQNLREV GNAILFCLLI EQSLSLEEVC
DLLHAAPFQN ILPRVHVKEG ERLDAKMKRL ESKYAPLHLV PLIERLGTPQ QIAIAREGDL
LTKERLCCGL SMFEVILTRI RSFLDDPIWR GPLPSNGVMH VDECVEFHRL WSAMQFVYCI
PVGTHEFTVE QCFGDGLHWA GCMIIVLLGQ QRRFAVLDFC YHLLKVQKHD GKDEIIKNVP
LKKMVERIRK FQILNDEIIT ILDKYLKSGD GEGTPVEHVR CFQPPIHQSL ASS*
speed 0.90 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