Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998908 (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) chr12:57109931A>TN/A show variant in all transcripts   IGV
HGNC symbol NACA
Ensembl transcript ID ENST00000550952
Genbank transcript ID NM_001113203
UniProt peptide Q13765
alteration type single base exchange
alteration region CDS
DNA changes c.1924T>A
cDNA.1963T>A
g.15482T>A
AA changes S642T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 642
frameshift no
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 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      642KPESASVSAAPSPPVSLPLAPSPV
mutated  all conserved    642KPESASVSAAPTPPVSLPLAPSP
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000002413  n/a
Drerio  no alignment  ENSDARG00000005513  n/a
Dmelanogaster  no alignment  FBgn0086904  n/a
Celegans  no alignment  Y65B4BR.5  n/a
Xtropicalis  no alignment  ENSXETG00000004407  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2778 / 2778
position (AA) of stopcodon in wt / mu AA sequence 926 / 926
position of stopcodon in wt / mu cDNA 2817 / 2817
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 40 / 40
chromosome 12
strand -1
last intron/exon boundary 2803
theoretical NMD boundary in CDS 2713
length of CDS 2778
coding sequence (CDS) position 1924
cDNA position
(for ins/del: last normal base / first normal base)		 1963
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 CATCTGTCTCTGCAGCACCCTCCCCACCAGTCTCTCTGCCT
altered cDNA sequence snippet CATCTGTCTCTGCAGCACCCACCCCACCAGTCTCTCTGCCT
wildtype AA sequence MPGEATETVP ATEQELPQPQ AETAVLPMSS ALSVTAALGQ PGPTLPPPCS PAPQQCPLSA
ANQASPFPSP STIASTPLEV PFPQSSSGTA LPLGTAPEAP TFLPNLIGPP ISPAALALAS
PMIAPTLKGT PSSSAPLALV ALAPHSVQKS SAFPPNLLTS PPSVAVAESG SVITLSAPIA
PSEPKTNLNK VPSEVVPNPK GTPSPPCIVS TVPYHCVTPM ASIQSGVASL PQTTPTTTLA
IASPQVKDTT ISSVLISPQN PGSLSLKGPV SPPAALSLST QSLPVVTSSQ KTAGPNTPPD
FPISLGSHLA PLHQSSFGSV QLLGQTGPSA LSDPTVKTIS VDHSSTGASY PSQRSVIPPL
PSRNEVVPAT VAAFPVVAPS VDKGPSTISS ITCSPSGSLN VATSFSLSPT TSLILKSSPN
ATYHYPLVAQ MPVSSVGTTP LVVTNPCTIA AAPTTTFEVA TCVSPPMSSG PISNIEPTSP
AALVMAPVAP KEPSTQVATT LRIPVSPPLP DPEDLKNLPS SVLVKFPTQK DLQTVPASLE
GAPFSPAQAG LTTKKDPTVL PLVQAAPKNS PSFQSTSSSP EIPLSPEATL AKKSLGEPLP
IVAAFPLESA DPAGVAPTTA KAAAFEKVLP KPESASVSAA PSPPVSLPLA PSPVPTLPPK
QQFLPSSPGL VLESPSKPLA PADEDELLPL IPPEPISGGV PFQSVLVNMP TPKSAGIPVP
TPSAKQPVTK NNKGSGTESD SDESVPELEE QDSTQATTQQ AQLAAAAEID EEPVSKAKQS
RSEKKARKAM SKLGLRQVTG VTRVTIRKSK NILFVITKPD VYKSPASDTY IVFGEAKIED
LSQQAQLAAA EKFKVQGEAV SNIQENTQTP TVQEESEEEE VDETGVEVKD IELVMSQANV
SRAKAVRALK NNSNDIVNAI MELTM*
mutated AA sequence MPGEATETVP ATEQELPQPQ AETAVLPMSS ALSVTAALGQ PGPTLPPPCS PAPQQCPLSA
ANQASPFPSP STIASTPLEV PFPQSSSGTA LPLGTAPEAP TFLPNLIGPP ISPAALALAS
PMIAPTLKGT PSSSAPLALV ALAPHSVQKS SAFPPNLLTS PPSVAVAESG SVITLSAPIA
PSEPKTNLNK VPSEVVPNPK GTPSPPCIVS TVPYHCVTPM ASIQSGVASL PQTTPTTTLA
IASPQVKDTT ISSVLISPQN PGSLSLKGPV SPPAALSLST QSLPVVTSSQ KTAGPNTPPD
FPISLGSHLA PLHQSSFGSV QLLGQTGPSA LSDPTVKTIS VDHSSTGASY PSQRSVIPPL
PSRNEVVPAT VAAFPVVAPS VDKGPSTISS ITCSPSGSLN VATSFSLSPT TSLILKSSPN
ATYHYPLVAQ MPVSSVGTTP LVVTNPCTIA AAPTTTFEVA TCVSPPMSSG PISNIEPTSP
AALVMAPVAP KEPSTQVATT LRIPVSPPLP DPEDLKNLPS SVLVKFPTQK DLQTVPASLE
GAPFSPAQAG LTTKKDPTVL PLVQAAPKNS PSFQSTSSSP EIPLSPEATL AKKSLGEPLP
IVAAFPLESA DPAGVAPTTA KAAAFEKVLP KPESASVSAA PTPPVSLPLA PSPVPTLPPK
QQFLPSSPGL VLESPSKPLA PADEDELLPL IPPEPISGGV PFQSVLVNMP TPKSAGIPVP
TPSAKQPVTK NNKGSGTESD SDESVPELEE QDSTQATTQQ AQLAAAAEID EEPVSKAKQS
RSEKKARKAM SKLGLRQVTG VTRVTIRKSK NILFVITKPD VYKSPASDTY IVFGEAKIED
LSQQAQLAAA EKFKVQGEAV SNIQENTQTP TVQEESEEEE VDETGVEVKD IELVMSQANV
SRAKAVRALK NNSNDIVNAI MELTM*
speed 0.97 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