Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999998528264924 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM054062)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:17409560C>TN/A show variant in all transcripts   IGV
HGNC symbol PEMT
Ensembl transcript ID ENST00000255389
Genbank transcript ID NM_148172
UniProt peptide Q9UBM1
alteration type single base exchange
alteration region CDS
DNA changes c.634G>A
cDNA.708G>A
g.85463G>A
AA changes V212M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 212
frameshift no
known variant Reference ID: rs7946
databasehomozygous (T/T)heterozygousallele carriers
1000G55510161571
ExAC106361149522131

known disease mutation at this position, please check HGMD for details (HGMD ID CM054062)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0510.067
0.3310.052
(flanking)0.4050.048
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 increased85473wt: 0.7180 / mu: 0.7283 (marginal change - not scored)wt: CACCTACATAGTGGCTCTCCTATACGAAGAGTGAGTAGGGG
mu: CACCTACATAATGGCTCTCCTATACGAAGAGTGAGTAGGGG		 tcct|ATAC
Acc marginally increased85457wt: 0.5630 / mu: 0.6371 (marginal change - not scored)wt: CGGTGCTGGTGGCCCTCACCTACATAGTGGCTCTCCTATAC
mu: CGGTGCTGGTGGCCCTCACCTACATAATGGCTCTCCTATAC		 acct|ACAT
Acc marginally increased85463wt: 0.2357 / mu: 0.2523 (marginal change - not scored)wt: TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG
mu: TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG		 atag|TGGC
Donor gained854540.35mu: CCCTCACCTACATAA CTCA|ccta
Donor gained854590.34mu: ACCTACATAATGGCT CTAC|ataa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      212LLTVLVALTYIVALLYEEPFTAEI
mutated  all conserved    212LLTVLVALTYIMALLYEEPFTAE
Ptroglodytes  all identical  ENSPTRG00000008832  212LLTVLVALTYIVALLYEEPFTAE
Mmulatta  all identical  ENSMMUG00000006495  212LLTVLVALTYMVALLYEEPFTAE
Fcatus  all identical  ENSFCAG00000005701  212LLTVVVALIYMVAIQYEEPFTAQ
Mmusculus  all identical  ENSMUSG00000000301  212LLTVLVAIVYVVALLYEEPFTAE
Ggallus  all conserved  ENSGALG00000004875  220LLTAVVAISYTIAVLYEGPFTEE
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000040450  206VLTAVVALSYKVAIAYEGPFTQE
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000005734  175LLTALVALCYKVAILYE
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 711 / 711
position (AA) of stopcodon in wt / mu AA sequence 237 / 237
position of stopcodon in wt / mu cDNA 785 / 785
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 75 / 75
chromosome 17
strand -1
last intron/exon boundary 728
theoretical NMD boundary in CDS 603
length of CDS 711
coding sequence (CDS) position 634
cDNA position
(for ins/del: last normal base / first normal base)		 708
gDNA position
(for ins/del: last normal base / first normal base)		 85463
chromosomal position
(for ins/del: last normal base / first normal base)		 17409560
original gDNA sequence snippet TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG
altered gDNA sequence snippet TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG
original cDNA sequence snippet TGGTGGCCCTCACCTACATAGTGGCTCTCCTATACGAAGAG
altered cDNA sequence snippet TGGTGGCCCTCACCTACATAATGGCTCTCCTATACGAAGAG
wildtype AA sequence MKRSGNPGAE VTNSSVAGPD CCGGLGNIDF RQADFCVMTR LLGYVDPLDP SFVAAVITIT
FNPLYWNVVA RWEHKTRKLS RAFGSPYLAC YSLSVTILLL NFLRSHCFTQ AMLSQPRMES
LDTPAAYSLG LALLGLGVVL VLSSFFALGF AGTFLGDYFG ILKEARVTVF PFNILDNPMY
WGSTANYLGW AIMHASPTGL LLTVLVALTY IVALLYEEPF TAEIYRQKAS GSHKRS*
mutated AA sequence MKRSGNPGAE VTNSSVAGPD CCGGLGNIDF RQADFCVMTR LLGYVDPLDP SFVAAVITIT
FNPLYWNVVA RWEHKTRKLS RAFGSPYLAC YSLSVTILLL NFLRSHCFTQ AMLSQPRMES
LDTPAAYSLG LALLGLGVVL VLSSFFALGF AGTFLGDYFG ILKEARVTVF PFNILDNPMY
WGSTANYLGW AIMHASPTGL LLTVLVALTY IMALLYEEPF TAEIYRQKAS GSHKRS*
speed 0.63 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