Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:44282276A>GN/A show variant in all transcripts   IGV
HGNC symbol PNPLA5
Ensembl transcript ID ENST00000381198
Genbank transcript ID N/A
UniProt peptide Q7Z6Z6
alteration type single base exchange
alteration region CDS
DNA changes c.514T>C
cDNA.647T>C
g.5618T>C
AA changes W172R Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 172
frameshift no
known variant Reference ID: rs739231
databasehomozygous (G/G)heterozygousallele carriers
1000G7969241720
ExAC13513574119254
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5760
-0.6130
(flanking)-0.60
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 increased5617wt: 0.8690 / mu: 0.9377 (marginal change - not scored)wt: CAACGCTGGAAGGGG
mu: CAACGCCGGAAGGGG		 ACGC|tgga
Donor increased5610wt: 0.84 / mu: 0.94wt: CTGTGACCAACGCTG
mu: CTGTGACCAACGCCG		 GTGA|ccaa
Donor increased5618wt: 0.75 / mu: 0.86wt: AACGCTGGAAGGGGG
mu: AACGCCGGAAGGGGG		 CGCT|ggaa
distance from splice site 93
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      172DGNWDAGCDQRWKGGLSLNWKVPH
mutated  not conserved    172DGNWDAGCDQRRKGGLSLNW
Ptroglodytes  not conserved  ENSPTRG00000014478  286DGNWDAGCDQRRKGGLSLNWKVP
Mmulatta  not conserved  ENSMMUG00000002020  286DGNWDAGCDQCPKSGLSLNWQVP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000018868  286EGPRGTGHDQGQKTGPTVRWDIP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000044086  287PGKKNPVVEETTK-----EWVLR
Dmelanogaster  no alignment  FBgn0036449  n/a
Celegans  no alignment  C05D11.7  n/a
Xtropicalis  not conserved  ENSXETG00000004865  289HLTCDC-CVKSKREEEDLKRKVLEGP
protein features
start (aa)end (aa)featuredetails 
12181DOMAINPatatin.lost
319319CONFLICTK -> E (in Ref. 1; BAC86866).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 948 / 948
position (AA) of stopcodon in wt / mu AA sequence 316 / 316
position of stopcodon in wt / mu cDNA 1081 / 1081
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 134 / 134
chromosome 22
strand -1
last intron/exon boundary 991
theoretical NMD boundary in CDS 807
length of CDS 948
coding sequence (CDS) position 514
cDNA position
(for ins/del: last normal base / first normal base)		 647
gDNA position
(for ins/del: last normal base / first normal base)		 5618
chromosomal position
(for ins/del: last normal base / first normal base)		 44282276
original gDNA sequence snippet ATGCTGGCTGTGACCAACGCTGGAAGGGGGGCCTGTCTCTC
altered gDNA sequence snippet ATGCTGGCTGTGACCAACGCCGGAAGGGGGGCCTGTCTCTC
original cDNA sequence snippet ATGCTGGCTGTGACCAACGCTGGAAGGGGGGCCTGTCTCTC
altered cDNA sequence snippet ATGCTGGCTGTGACCAACGCCGGAAGGGGGGCCTGTCTCTC
wildtype AA sequence MGFLEEEGRW NLSFSGAGYL GAHHVGATEC LRQRAPRLLQ GARRIYGSSS GALNAVSIVC
GKSVDCPSTI TVSPFHGTVD ICPQSTSPNL HELNVFNFSF QISTENFFLG LICLIPPSLE
VVADNCRQGY LDALRFLERR GLTKEPVLWT LVSKEPPAPA DGNWDAGCDQ RWKGGLSLNW
KVPHVQVKDV PNFEQLSPEL EAALKKACTR DPSRWARFWH SGPGQVLTYL LLPCTLPFEY
IYFRSRRLVV WLPDVPADLW WMQGLLRNMA LEVFSRTKAQ LLGPISPPAT RVLETSPLQP
QIAPHREELG PTHQA*
mutated AA sequence MGFLEEEGRW NLSFSGAGYL GAHHVGATEC LRQRAPRLLQ GARRIYGSSS GALNAVSIVC
GKSVDCPSTI TVSPFHGTVD ICPQSTSPNL HELNVFNFSF QISTENFFLG LICLIPPSLE
VVADNCRQGY LDALRFLERR GLTKEPVLWT LVSKEPPAPA DGNWDAGCDQ RRKGGLSLNW
KVPHVQVKDV PNFEQLSPEL EAALKKACTR DPSRWARFWH SGPGQVLTYL LLPCTLPFEY
IYFRSRRLVV WLPDVPADLW WMQGLLRNMA LEVFSRTKAQ LLGPISPPAT RVLETSPLQP
QIAPHREELG PTHQA*
speed 0.46 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