Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99669292849934 (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) chr4:89668859C>TN/A show variant in all transcripts   IGV
HGNC symbol FAM13A
Ensembl transcript ID ENST00000503556
Genbank transcript ID N/A
UniProt peptide O94988
alteration type single base exchange
alteration region CDS
DNA changes c.1285G>A
cDNA.1512G>A
g.363691G>A
AA changes V429I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 429
frameshift no
known variant Reference ID: rs7657817
databasehomozygous (T/T)heterozygousallele carriers
1000G2259551180
ExAC32231937822601
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.0110.283
1.6540.265
(flanking)-1.950.001
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 increased363688wt: 0.7050 / mu: 0.7418 (marginal change - not scored)wt: AGCCCAGTGTTGAAG
mu: AGCCCAGTATTGAAG		 CCCA|gtgt
Donor marginally increased363683wt: 0.9949 / mu: 0.9965 (marginal change - not scored)wt: AATAAAGCCCAGTGT
mu: AATAAAGCCCAGTAT		 TAAA|gccc
Donor increased363691wt: 0.68 / mu: 0.96wt: CCAGTGTTGAAGCCA
mu: CCAGTATTGAAGCCA		 AGTG|ttga
distance from splice site 78
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      429QELVDKAIKPSVEATLESIQRKLQ
mutated  all conserved    429VDKAIKPSIEATLESIQRKL
Ptroglodytes  all identical  ENSPTRG00000016278  769QELVDKAIKPSVEATLESIQRKL
Mmulatta  all identical  ENSMMUG00000010141  760QELVDKAIKPSVEATLESIQRKL
Fcatus  all identical  ENSFCAG00000015497  768QELMDKVIKPSVEATLESIQRKL
Mmusculus  all identical  ENSMUSG00000037709  439QELLDKAIRPSVEATLEGILRKL
Ggallus  all identical  ENSGALG00000010371  777VEVTLDSIQKKL
Trubripes  not conserved  ENSTRUG00000012811  772----EKVPKPPAETTLES
Drerio  all identical  ENSDARG00000075564  814-----KAPKPPVESTLETVTNKL
Dmelanogaster  all conserved  FBgn0028494  565-----------MKATLAEIEQNL
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023661  768AKPSMEATMEAIQKKL
protein features
start (aa)end (aa)featuredetails 
509509CONFLICTS -> T (in Ref. 2; AK027138).might get lost (downstream of altered splice site)
655655MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
666730COILEDPotential.might get lost (downstream of altered splice site)
732732MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
740740CONFLICTN -> Y (in Ref. 2; BAG59483).might get lost (downstream of altered splice site)
946978COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2052 / 2052
position (AA) of stopcodon in wt / mu AA sequence 684 / 684
position of stopcodon in wt / mu cDNA 2279 / 2279
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 228 / 228
chromosome 4
strand -1
last intron/exon boundary 2153
theoretical NMD boundary in CDS 1875
length of CDS 2052
coding sequence (CDS) position 1285
cDNA position
(for ins/del: last normal base / first normal base)		 1512
gDNA position
(for ins/del: last normal base / first normal base)		 363691
chromosomal position
(for ins/del: last normal base / first normal base)		 89668859
original gDNA sequence snippet ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT
altered gDNA sequence snippet ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT
original cDNA sequence snippet ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT
altered cDNA sequence snippet ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT
wildtype AA sequence MACEIMPLQS AHVPQVSNVS ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS
SATSARQRRR QSKEQDEVRH GRDKGLINKE NTPSGFNHLD DCILNTQEVE KVHKNTFGCA
GERSKPKRQK SSTKLSELHD NQDGLVNMES LNSTRSHERT GPDDFEWMSD ERKGNEKDGG
HTQHFESPTM KIQEHPSLSD TKQQRNQDAG DQEESFVSEV PQSDLTALCD EKNWEEPIPA
FSSWQRENSD SDEAHLSPQA GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP
NSHSFMRRRS SSLGSYDDEQ EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA
ANPEVLKWTN DLAKFRRQLK ESKLKISEED LTPRMRQRSN TLPKSFGSQL EKEDEKKQEL
VDKAIKPSVE ATLESIQRKL QEKRAESSRP EDIKDMTKDQ IANEKVALQK ALLYYESIHG
RPVTKNERQV MKPLYDRYRL VKQILSRANT IPIIGSPSSK RRSPLLQPII EGETASFFKE
IKEEEEGSED DSNVKPDFMV TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL
SNLHAASIPE LLEHLQEMRE EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK
HIKAKLRLLE VLISKRDTDS KSM*
mutated AA sequence MACEIMPLQS AHVPQVSNVS ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS
SATSARQRRR QSKEQDEVRH GRDKGLINKE NTPSGFNHLD DCILNTQEVE KVHKNTFGCA
GERSKPKRQK SSTKLSELHD NQDGLVNMES LNSTRSHERT GPDDFEWMSD ERKGNEKDGG
HTQHFESPTM KIQEHPSLSD TKQQRNQDAG DQEESFVSEV PQSDLTALCD EKNWEEPIPA
FSSWQRENSD SDEAHLSPQA GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP
NSHSFMRRRS SSLGSYDDEQ EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA
ANPEVLKWTN DLAKFRRQLK ESKLKISEED LTPRMRQRSN TLPKSFGSQL EKEDEKKQEL
VDKAIKPSIE ATLESIQRKL QEKRAESSRP EDIKDMTKDQ IANEKVALQK ALLYYESIHG
RPVTKNERQV MKPLYDRYRL VKQILSRANT IPIIGSPSSK RRSPLLQPII EGETASFFKE
IKEEEEGSED DSNVKPDFMV TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL
SNLHAASIPE LLEHLQEMRE EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK
HIKAKLRLLE VLISKRDTDS KSM*
speed 1.25 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