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 ENST00000508369
Genbank transcript ID NM_001015045
UniProt peptide O94988
alteration type single base exchange
alteration region CDS
DNA changes c.1327G>A
cDNA.1524G>A
g.363691G>A
AA changes V443I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 443
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      443QELVDKAIKPSVEATLESIQRKLQ
mutated  all conserved    443QELVDKAIKPSIEATLESIQRKL
Ptroglodytes  all identical  ENSPTRG00000016278  769QELVDKAIKPSVEATLESIQRKL
Mmulatta  all identical  ENSMMUG00000010141  760QELVDKAIKPSVEATLESIQRKL
Fcatus  all identical  ENSFCAG00000015497  768QELMDKVIKPSVEATLESIQRKL
Mmusculus  all identical  ENSMUSG00000037709  439QELLDKAIRPSVEATLEGILRKL
Ggallus  all identical  ENSGALG00000010371  777QDLSDKSAKPAVEVTLDSIQKKL
Trubripes  not conserved  ENSTRUG00000012811  772----EKVPKPPAETTLESILKKL
Drerio  all identical  ENSDARG00000075564  814-----KAPKPPVESTLETVTNKL
Dmelanogaster  all conserved  FBgn0028494  565-----------MKATLAEIEQNL
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023661  768PETVEKPAKPSMEATMEAIQKKL
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 2094 / 2094
position (AA) of stopcodon in wt / mu AA sequence 698 / 698
position of stopcodon in wt / mu cDNA 2291 / 2291
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 198 / 198
chromosome 4
strand -1
last intron/exon boundary 2165
theoretical NMD boundary in CDS 1917
length of CDS 2094
coding sequence (CDS) position 1327
cDNA position
(for ins/del: last normal base / first normal base)		 1524
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 SQEDERPLSP FYLSAHVPQV SNVSATGELL ERTIRSAVEQ HLFDVNNSGG
QSSEDSESGT LSASSATSAR QRRRQSKEQD EVRHGRDKGL INKENTPSGF NHLDDCILNT
QEVEKVHKNT FGCAGERSKP KRQKSSTKLS ELHDNQDGLV NMESLNSTRS HERTGPDDFE
WMSDERKGNE KDGGHTQHFE SPTMKIQEHP SLSDTKQQRN QDAGDQEESF VSEVPQSDLT
ALCDEKNWEE PIPAFSSWQR ENSDSDEAHL SPQAGRLIRQ LLDEDSDPML SPRFYAYGQS
RQYLDDTEVP PSPPNSHSFM RRRSSSLGSY DDEQEDLTPA QLTRRIQSLK KKIRKFEDRF
EEEKKYRPSH SDKAANPEVL KWTNDLAKFR RQLKESKLKI SEEDLTPRMR QRSNTLPKSF
GSQLEKEDEK KQELVDKAIK PSVEATLESI QRKLQEKRAE SSRPEDIKDM TKDQIANEKV
ALQKALLYYE SIHGRPVTKN ERQVMKPLYD RYRLVKQILS RANTIPIIGS PSSKRRSPLL
QPIIEGETAS FFKEIKEEEE GSEDDSNVKP DFMVTLKTDF SARCFLDQFE DDADGFISPM
DDKIPSKCSQ DTGLSNLHAA SIPELLEHLQ EMREEKKRIR KKLRDFEDNF FRQNGRNVQK
EDRTPMAEEY SEYKHIKAKL RLLEVLISKR DTDSKSM*
mutated AA sequence MACEIMPLQS SQEDERPLSP FYLSAHVPQV SNVSATGELL ERTIRSAVEQ HLFDVNNSGG
QSSEDSESGT LSASSATSAR QRRRQSKEQD EVRHGRDKGL INKENTPSGF NHLDDCILNT
QEVEKVHKNT FGCAGERSKP KRQKSSTKLS ELHDNQDGLV NMESLNSTRS HERTGPDDFE
WMSDERKGNE KDGGHTQHFE SPTMKIQEHP SLSDTKQQRN QDAGDQEESF VSEVPQSDLT
ALCDEKNWEE PIPAFSSWQR ENSDSDEAHL SPQAGRLIRQ LLDEDSDPML SPRFYAYGQS
RQYLDDTEVP PSPPNSHSFM RRRSSSLGSY DDEQEDLTPA QLTRRIQSLK KKIRKFEDRF
EEEKKYRPSH SDKAANPEVL KWTNDLAKFR RQLKESKLKI SEEDLTPRMR QRSNTLPKSF
GSQLEKEDEK KQELVDKAIK PSIEATLESI QRKLQEKRAE SSRPEDIKDM TKDQIANEKV
ALQKALLYYE SIHGRPVTKN ERQVMKPLYD RYRLVKQILS RANTIPIIGS PSSKRRSPLL
QPIIEGETAS FFKEIKEEEE GSEDDSNVKP DFMVTLKTDF SARCFLDQFE DDADGFISPM
DDKIPSKCSQ DTGLSNLHAA SIPELLEHLQ EMREEKKRIR KKLRDFEDNF FRQNGRNVQK
EDRTPMAEEY SEYKHIKAKL RLLEVLISKR DTDSKSM*
speed 1.09 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