Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999953 (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) chr12:46321514A>TN/A show variant in all transcripts   IGV
HGNC symbol SCAF11
Ensembl transcript ID ENST00000465950
Genbank transcript ID N/A
UniProt peptide Q99590
alteration type single base exchange
alteration region CDS
DNA changes c.1025T>A
cDNA.2235T>A
g.64390T>A
AA changes F342Y Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 342
frameshift no
known variant Reference ID: rs7315731
databasehomozygous (T/T)heterozygousallele carriers
1000G44410651509
ExAC13157645319610
regulatory features H3K27me1, Histone, Histone 3 Lysine 27 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6990
0.4950
(flanking)-0.3170
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64382wt: 0.37 / mu: 0.79wt: GGGAATGAAGATTTC
mu: GGGAATGAAGATTAC		 GAAT|gaag
distance from splice site 1590
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      342IATCDTFGNEDFNNIQDSENNLLK
mutated  all conserved    342IATCDTFGNEDYNNIQDSENNLL
Ptroglodytes  all identical  ENSPTRG00000004854  657IATCDTFGNEDFNNIQDSENNLL
Mmulatta  all identical  ENSMMUG00000023791  658IATCDTFGNEDFNNVQDSENNLL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000033228  668PACEHIQTENTEIIPVCGTLENENSDAVQDCEDNLL
Ggallus  no alignment  ENSGALG00000009672  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000045885  308TSQTLNDTASTSRGQQGNNPRSGVKTRG
Dmelanogaster  no alignment  FBgn0037344  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
341341MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
344344MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
400400MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
401401MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
402402MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
405405MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
410410MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
413413MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
416416MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
533533MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
584584CONFLICTI -> M (in Ref. 5; AAH40951).might get lost (downstream of altered splice site)
608608MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
614614MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
623623CONFLICTD -> G (in Ref. 5; AAH40951).might get lost (downstream of altered splice site)
680680MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
723723MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
726726MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
771771MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
796796MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
798798MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
800800MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
802802MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
807807MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
816816MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
818818MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
827827MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
832832MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
841985COMPBIASArg-rich.might get lost (downstream of altered splice site)
878878MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
880880MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
882882MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
963963MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11091109MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11271127MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12251285COMPBIASPro-rich.might get lost (downstream of altered splice site)
13921392MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3447 / 3447
position (AA) of stopcodon in wt / mu AA sequence 1149 / 1149
position of stopcodon in wt / mu cDNA 4657 / 4657
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 1211 / 1211
chromosome 12
strand -1
last intron/exon boundary 4511
theoretical NMD boundary in CDS 3250
length of CDS 3447
coding sequence (CDS) position 1025
cDNA position
(for ins/del: last normal base / first normal base)		 2235
gDNA position
(for ins/del: last normal base / first normal base)		 64390
chromosomal position
(for ins/del: last normal base / first normal base)		 46321514
original gDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered gDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
original cDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered cDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
wildtype AA sequence MTTPTRRSTR NTRAETASQS QRSPISDNSG CDAPGNSNPS LSVPSSAESE KQTRQAPKRK
SVRRGRKPPL LKKKLRSSVA APEKSSSNDS VDEETAESDT SPVLEKEHQP DVDSSNICTV
QTHVENQSAN CLKSCNEQIE ESEKHTANYD TEERVGSSSS ESCAQDLPVL VGEEGEVKKL
ENTGIEANVL CLESEISENI LEKGGDPLEK QDQISGLSQS EVKTDVCTVH LPNDFPTCLT
SESKVYQPVS CPLSDLSENV ESVVNEEKIT ESSLVEITEH KDFTLKTEEL IESPKLESSE
GEIIQTVDRQ SVKSPEVQLL GHVETEDVEI IATCDTFGNE DFNNIQDSEN NLLKNNLLNT
KLEKSLEEKN ESLTEHPRST ELPKTHIEQI QKHFSEDNNE MIPMECDSFC SDQNESEVEP
SVNADLKQMN ENSVTHCSEN NMPSSDLADE KVETVSQPSE SPKDTIDKTK KPRTRRSRFH
SPSTTWSPNK DTPQEKKRPQ SPSPRRETGK ESRKSQSPSP KNESARGRKK SRSQSPKKDI
ARERRQSQSR SPKRDTTRES RRSESLSPRR ETSRENKRSQ PRVKDSSPGE KSRSQSRERE
SDRDGQRRER ERRTRKWSRS RSHSRSPSRC RTKSKSSSFG RIDRDSYSPR WKGRWANDGW
RCPRGNDRYR KNDPEKQNEN TRKEKNDIHL DADDPNSADK HRNDCPNWIT EKINSGPDPR
TRNPEKLKES HWEENRNENS GNSWNKNFGS GWVSNRGRGR GNRGRGTYRS SFAYKDQNEN
RWQNRKPLSG NSNSSGSESF KFVEQQSYKR KSEQEFSFDT PADRSGWTSA SSWAVRKTLP
ADVQNYYSRR GRNSSGPQSG WMKQEEETSG QDSSLKDQTN QQVDGSQLPI NMMQPQMNVM
QQQMNAQHQP MNIFPYPVGV HAPLMNIQRN PFNIHPQLPL HLHTGVPLMQ VATPTSVSQG
LPPPPPPPPP SQQVNYIASQ PDGKQLQGIP SSSHVSNNMS TPVLPAPTAA PGNTGMVQGP
SSGNTSSSSH SKASNAAVKL AESKVSVAVE ASADSSKTDK KLQIQEKAAQ EVKLAIKPFY
QNKDITKEEY KEIVRKAVDK VCHSKSGEVN STKVANLVKA YVDKYKYSRK GSQKKTLEEP
VSTEKNIG*
mutated AA sequence MTTPTRRSTR NTRAETASQS QRSPISDNSG CDAPGNSNPS LSVPSSAESE KQTRQAPKRK
SVRRGRKPPL LKKKLRSSVA APEKSSSNDS VDEETAESDT SPVLEKEHQP DVDSSNICTV
QTHVENQSAN CLKSCNEQIE ESEKHTANYD TEERVGSSSS ESCAQDLPVL VGEEGEVKKL
ENTGIEANVL CLESEISENI LEKGGDPLEK QDQISGLSQS EVKTDVCTVH LPNDFPTCLT
SESKVYQPVS CPLSDLSENV ESVVNEEKIT ESSLVEITEH KDFTLKTEEL IESPKLESSE
GEIIQTVDRQ SVKSPEVQLL GHVETEDVEI IATCDTFGNE DYNNIQDSEN NLLKNNLLNT
KLEKSLEEKN ESLTEHPRST ELPKTHIEQI QKHFSEDNNE MIPMECDSFC SDQNESEVEP
SVNADLKQMN ENSVTHCSEN NMPSSDLADE KVETVSQPSE SPKDTIDKTK KPRTRRSRFH
SPSTTWSPNK DTPQEKKRPQ SPSPRRETGK ESRKSQSPSP KNESARGRKK SRSQSPKKDI
ARERRQSQSR SPKRDTTRES RRSESLSPRR ETSRENKRSQ PRVKDSSPGE KSRSQSRERE
SDRDGQRRER ERRTRKWSRS RSHSRSPSRC RTKSKSSSFG RIDRDSYSPR WKGRWANDGW
RCPRGNDRYR KNDPEKQNEN TRKEKNDIHL DADDPNSADK HRNDCPNWIT EKINSGPDPR
TRNPEKLKES HWEENRNENS GNSWNKNFGS GWVSNRGRGR GNRGRGTYRS SFAYKDQNEN
RWQNRKPLSG NSNSSGSESF KFVEQQSYKR KSEQEFSFDT PADRSGWTSA SSWAVRKTLP
ADVQNYYSRR GRNSSGPQSG WMKQEEETSG QDSSLKDQTN QQVDGSQLPI NMMQPQMNVM
QQQMNAQHQP MNIFPYPVGV HAPLMNIQRN PFNIHPQLPL HLHTGVPLMQ VATPTSVSQG
LPPPPPPPPP SQQVNYIASQ PDGKQLQGIP SSSHVSNNMS TPVLPAPTAA PGNTGMVQGP
SSGNTSSSSH SKASNAAVKL AESKVSVAVE ASADSSKTDK KLQIQEKAAQ EVKLAIKPFY
QNKDITKEEY KEIVRKAVDK VCHSKSGEVN STKVANLVKA YVDKYKYSRK GSQKKTLEEP
VSTEKNIG*
speed 1.05 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