Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999512580056294      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM081291)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:233674441C>GN/A show variant in all transcripts   IGV
HGNC symbol GIGYF2
Ensembl transcript ID ENST00000452341
Genbank transcript ID N/A
UniProt peptide Q6Y7W6
alteration type single base exchange
alteration region CDS
DNA changes c.1311C>G
cDNA.1392C>G
g.112433C>G
AA changes D437E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 437
frameshift no
known variant Reference ID: rs118203903
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM081291)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081291)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081291)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.921
1.3971
(flanking)5.9421
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 increased112430wt: 0.4044 / mu: 0.4218 (marginal change - not scored)wt: GAGCTGGACCAGGAA
mu: GAGCTGGAGCAGGAA		 GCTG|gacc
Donor gained1124270.55mu: GGAGAGCTGGAGCAG AGAG|ctgg
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      437GPAPPPHMGELDQERLTRQQELTA
mutated  all conserved    437GPAPPPHMGELEQERLTRQQELT
Ptroglodytes  all identical  ENSPTRG00000028976  627PPPHMGELDQERLTRQQELT
Mmulatta  all identical  ENSMMUG00000012211  641PAPPPHMGELDQERLTRQQELT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000048000  607PAPPPHMGELDQERLTRQQELT
Ggallus  all identical  ENSGALG00000001482  286GPTPLPHLGELDQERLTRQQEL-
Trubripes  all identical  ENSTRUG00000008935  626GPAPPPLQGDGDQERLKRQQ-LT
Drerio  all identical  ENSDARG00000009735  629GPTLPPILGDADQERMKRQQEIN
Dmelanogaster  no alignment  FBgn0039936  n/a
Celegans  all conserved  C18H9.3  450NPLYPAAFGGVNMWSSMGQP--T
Xtropicalis  all conserved  ENSXETG00000013890  545TPNPWAGLPNFNPR
protein features
start (aa)end (aa)featuredetails 
436473COMPBIASPro-rich.lost
533581DOMAINGYF.might get lost (downstream of altered splice site)
547563REGIONRequired for GRB10-binding (By similarity).might get lost (downstream of altered splice site)
593593MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
6071025COMPBIASGln-rich.might get lost (downstream of altered splice site)
738888COMPBIASGlu-rich.might get lost (downstream of altered splice site)
792792CONFLICTE -> G (in Ref. 5; CAD98095).might get lost (downstream of altered splice site)
11531153CONFLICTD -> G (in Ref. 5; CAD98095).might get lost (downstream of altered splice site)
11981252COMPBIASGln-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2619 / 2619
position (AA) of stopcodon in wt / mu AA sequence 873 / 873
position of stopcodon in wt / mu cDNA 2700 / 2700
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 82 / 82
chromosome 2
strand 1
last intron/exon boundary 2708
theoretical NMD boundary in CDS 2576
length of CDS 2619
coding sequence (CDS) position 1311
cDNA position
(for ins/del: last normal base / first normal base)		 1392
gDNA position
(for ins/del: last normal base / first normal base)		 112433
chromosomal position
(for ins/del: last normal base / first normal base)		 233674441
original gDNA sequence snippet CATTCCTAGGGAGAGCTGGACCAGGAACGACTGACCAGGCA
altered gDNA sequence snippet CATTCCTAGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA
original cDNA sequence snippet CCTCATATGGGAGAGCTGGACCAGGAACGACTGACCAGGCA
altered cDNA sequence snippet CCTCATATGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA
wildtype AA sequence MTKLPDDPGR PNFEEGGPTS VGRKHEFIRS ESENWRIFRE EQNGEDEDGG WRLAGSRRDG
ERWRPHSPDG PRSAGWREHM ERRRRFEFDF RDRDDERGYR RVRSGSGSID DDRDSLPEWC
LEDAEEEMGT FDSSGAFLSL KKVQKEPIPE EQEMDFRPVD EGEECSDSEG SHNEEAKEPD
KTNKKEGEKT DRVGVEASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE PKTEQTEKAE
EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS PTLRPVETPV
VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH RAKGVSIPLM
HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP LGDIMKMWGR
VPFSPGPAPP PHMGELDQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV LAQQQKAALS
SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS QPTVWEGGSV
WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE ELRRQQEEIL
RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA LRRLEERRRE
EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE EERKRKELEV
QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ SQATLSLAEI
QKLEEERERQ LREEESSASF CFYATAKAPA EGVDESSSAA AATATAETLR LGECQQTFRY
HEISSGDPAG RGQANAKAAA AAAATPATKQ SS*
mutated AA sequence MTKLPDDPGR PNFEEGGPTS VGRKHEFIRS ESENWRIFRE EQNGEDEDGG WRLAGSRRDG
ERWRPHSPDG PRSAGWREHM ERRRRFEFDF RDRDDERGYR RVRSGSGSID DDRDSLPEWC
LEDAEEEMGT FDSSGAFLSL KKVQKEPIPE EQEMDFRPVD EGEECSDSEG SHNEEAKEPD
KTNKKEGEKT DRVGVEASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE PKTEQTEKAE
EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS PTLRPVETPV
VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH RAKGVSIPLM
HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP LGDIMKMWGR
VPFSPGPAPP PHMGELEQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV LAQQQKAALS
SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS QPTVWEGGSV
WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE ELRRQQEEIL
RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA LRRLEERRRE
EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE EERKRKELEV
QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ SQATLSLAEI
QKLEEERERQ LREEESSASF CFYATAKAPA EGVDESSSAA AATATAETLR LGECQQTFRY
HEISSGDPAG RGQANAKAAA AAAATPATKQ SS*
speed 0.72 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