Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999715 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:50334231T>AN/A show variant in all transcripts   IGV
HGNC symbol NAA80
Ensembl transcript ID ENST00000354862
Genbank transcript ID NM_012191
UniProt peptide Q93015
alteration type single base exchange
alteration region CDS
DNA changes c.730A>T
cDNA.932A>T
g.2622A>T
AA changes R244W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 244
frameshift no
known variant Reference ID: rs2269432
databasehomozygous (A/A)heterozygousallele carriers
1000G256578834
ExAC295067929742
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4030
-0.1540.001
(flanking)0.9520.028
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 increased2614wt: 0.9392 / mu: 0.9465 (marginal change - not scored)wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA
mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA		 cccg|GCCA
Acc marginally increased2613wt: 0.8908 / mu: 0.9041 (marginal change - not scored)wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA
mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA		 cccc|GGCC
Acc marginally increased2615wt: 0.6046 / mu: 0.6610 (marginal change - not scored)wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA
mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA		 ccgg|CCAC
Acc gained26240.69mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC ctgg|AAGG
distance from splice site 399
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      244AFPTAPSPRPPRKAPNLTAQAAPR
mutated  not conserved    244RPPWKAPNLTAQAAP
Ptroglodytes  not conserved  ENSPTRG00000034051  243PPWKAPNLTAQAAP
Mmulatta  not conserved  ENSMMUG00000020120  222AFPTGPSPRPPWKAPNLTAQAAP
Fcatus  not conserved  ENSFCAG00000018926  244RQPCKASSLTAQTAP
Mmusculus  not conserved  ENSMUSG00000079334  250FSKPPCPQPPCKEPILAAQAVP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068590  171RFCRTAENEEEERKFKVTNHAKSTPSVLP
Dmelanogaster  no alignment  FBgn0037747  n/a
Celegans  not conserved  C56G2.15  162HFQNAAASNPSFLSKIAQPSASSTV
Xtropicalis  not conserved  ENSXETG00000007327  171RLSKVSSFVPPPLASV
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 927 / 927
position (AA) of stopcodon in wt / mu AA sequence 309 / 309
position of stopcodon in wt / mu cDNA 1129 / 1129
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 203 / 203
chromosome 3
strand -1
last intron/exon boundary 205
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 927
coding sequence (CDS) position 730
cDNA position
(for ins/del: last normal base / first normal base)		 932
gDNA position
(for ins/del: last normal base / first normal base)		 2622
chromosomal position
(for ins/del: last normal base / first normal base)		 50334231
original gDNA sequence snippet CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT
altered gDNA sequence snippet CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT
original cDNA sequence snippet CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT
altered cDNA sequence snippet CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT
wildtype AA sequence MQELTLSPGP AKLTPTLDPT HRMELILSTS PAELTLDPAC QPKLPLDSTC QPEMTFNPGP
TELTLDPEHQ PEETPAPSLA ELTLEPVHRR PELLDACADL INDQWPRSRT SRLHSLGQSS
DAFPLCLMLL SPHPTLEAAP VVVGHARLSR VLNQPQSLLV ETVVVARALR GRGFGRRLME
GLEVFARARG FRKLHLTTHD QVHFYTHLGY QLGEPVQGLV FTSRRLPATL LNAFPTAPSP
RPPRKAPNLT AQAAPRGPKG PPLPPPPPLP ECLTISPPVP SGPPSKSLLE TQYQNVRGRP
IFWMEKDI*
mutated AA sequence MQELTLSPGP AKLTPTLDPT HRMELILSTS PAELTLDPAC QPKLPLDSTC QPEMTFNPGP
TELTLDPEHQ PEETPAPSLA ELTLEPVHRR PELLDACADL INDQWPRSRT SRLHSLGQSS
DAFPLCLMLL SPHPTLEAAP VVVGHARLSR VLNQPQSLLV ETVVVARALR GRGFGRRLME
GLEVFARARG FRKLHLTTHD QVHFYTHLGY QLGEPVQGLV FTSRRLPATL LNAFPTAPSP
RPPWKAPNLT AQAAPRGPKG PPLPPPPPLP ECLTISPPVP SGPPSKSLLE TQYQNVRGRP
IFWMEKDI*
speed 1.03 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