Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999993784253744 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:50744119G>AN/A show variant in all transcripts   IGV
HGNC symbol FAM186A
Ensembl transcript ID ENST00000543096
Genbank transcript ID N/A
UniProt peptide A6NE01
alteration type single base exchange
alteration region CDS
DNA changes c.529C>T
cDNA.550C>T
g.46287C>T
AA changes H177Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 177
frameshift no
known variant Reference ID: rs7296291
databasehomozygous (A/A)heterozygousallele carriers
1000G95911132072
ExAC364144558096
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0720.702
-0.6520.674
(flanking)0.4540.81
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 increased46289wt: 0.9319 / mu: 0.9511 (marginal change - not scored)wt: CAGCATGCCAGGTAG
mu: CAGTATGCCAGGTAG		 GCAT|gcca
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      177FRKYIAYRLIQHARNNIMKRLKAI
mutated  all conserved    177FRKYIAYRLIQYARN
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000045350  2853SRKYVAYRLIQLARNHLTKR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1101 / 1101
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 22 / 22
chromosome 12
strand -1
last intron/exon boundary 1089
theoretical NMD boundary in CDS 1017
length of CDS 1080
coding sequence (CDS) position 529
cDNA position
(for ins/del: last normal base / first normal base)		 550
gDNA position
(for ins/del: last normal base / first normal base)		 46287
chromosomal position
(for ins/del: last normal base / first normal base)		 50744119
original gDNA sequence snippet TTGCCTATAGGCTGATCCAGCATGCCAGGTAGATATAATTA
altered gDNA sequence snippet TTGCCTATAGGCTGATCCAGTATGCCAGGTAGATATAATTA
original cDNA sequence snippet TTGCCTATAGGCTGATCCAGCATGCCAGGAACAACATAATG
altered cDNA sequence snippet TTGCCTATAGGCTGATCCAGTATGCCAGGAACAACATAATG
wildtype AA sequence MSEVSDTSEE TQILRDTFAI ESFRTFQSHF TKYRTPVYQT PYTDERALLT LMKPTTSPSS
LTTLLRTSQI SPLEWYQKSR FPPIDKPWIL SSVSDTKKPK VMVPPSSPQE LEEKRYFVDV
EAQKKNLILL NQAIKTCGLP SQLHTMARTL IIEILHMDTV QLGYLFRKYI AYRLIQHARN
NIMKRLKAIQ NTGKGYEARN LHMMLSRLDD YGKKVMQVWT EKQKSLGQKR NQCLKKMIHV
FNQLKKIHEL NLSQPIPLII EEKQIPASTT FVQKPFLKLL MEEDRTSDIC KKFRQQEDQT
EAIWNVDLST SSYPIAEKTS MHSLWAQLGG YPDIPRLLQL EVQSTFRKSL ASLQSRSSG*
mutated AA sequence MSEVSDTSEE TQILRDTFAI ESFRTFQSHF TKYRTPVYQT PYTDERALLT LMKPTTSPSS
LTTLLRTSQI SPLEWYQKSR FPPIDKPWIL SSVSDTKKPK VMVPPSSPQE LEEKRYFVDV
EAQKKNLILL NQAIKTCGLP SQLHTMARTL IIEILHMDTV QLGYLFRKYI AYRLIQYARN
NIMKRLKAIQ NTGKGYEARN LHMMLSRLDD YGKKVMQVWT EKQKSLGQKR NQCLKKMIHV
FNQLKKIHEL NLSQPIPLII EEKQIPASTT FVQKPFLKLL MEEDRTSDIC KKFRQQEDQT
EAIWNVDLST SSYPIAEKTS MHSLWAQLGG YPDIPRLLQL EVQSTFRKSL ASLQSRSSG*
speed 1.23 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