Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999996421548291 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:57109931A>TN/A show variant in all transcripts   IGV
HGNC symbol NACA
Ensembl transcript ID ENST00000356769
Genbank transcript ID NM_001113202
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.15482T>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2926747
databasehomozygous (T/T)heterozygousallele carriers
1000G109010682158
ExAC26563-203596204
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0530.018
0.240.077
(flanking)0.110.188
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased15476wt: 0.3161 / mu: 0.3417 (marginal change - not scored)wt: AATCAGCATCTGTCTCTGCAGCACCCTCCCCACCAGTCTCT
mu: AATCAGCATCTGTCTCTGCAGCACCCACCCCACCAGTCTCT		 gcag|CACC
Donor marginally increased15485wt: 0.4575 / mu: 0.4900 (marginal change - not scored)wt: CCTCCCCACCAGTCT
mu: CCACCCCACCAGTCT		 TCCC|cacc
distance from splice site 1460
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 1938 / 1938
chromosome 12
strand -1
last intron/exon boundary 2571
theoretical NMD boundary in CDS 583
length of CDS 648
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 15482
chromosomal position
(for ins/del: last normal base / first normal base)		 57109931
original gDNA sequence snippet CATCTGTCTCTGCAGCACCCTCCCCACCAGTCTCTCTGCCT
altered gDNA sequence snippet CATCTGTCTCTGCAGCACCCACCCCACCAGTCTCTCTGCCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPGEATETVP ATEQELPQPQ AETGSGTESD SDESVPELEE QDSTQATTQQ AQLAAAAEID
EEPVSKAKQS RSEKKARKAM SKLGLRQVTG VTRVTIRKSK NILFVITKPD VYKSPASDTY
IVFGEAKIED LSQQAQLAAA EKFKVQGEAV SNIQENTQTP TVQEESEEEE VDETGVEVKD
IELVMSQANV SRAKAVRALK NNSNDIVNAI MELTM*
mutated AA sequence N/A
speed 0.56 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