Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999605 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:36270130C>AN/A show variant in all transcripts   IGV
HGNC symbol PNPLA1
Ensembl transcript ID ENST00000388715
Genbank transcript ID NM_173676
UniProt peptide Q8N8W4
alteration type single base exchange
alteration region CDS
DNA changes c.983C>A
cDNA.1122C>A
g.59151C>A
AA changes P328H Score: 77 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 328
frameshift no
known variant Reference ID: rs12199580
databasehomozygous (A/A)heterozygousallele carriers
1000G2559041159
ExAC97851319722982
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Non-Gene Associated, Regulatory Feature, Non-Gene associated regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2080
0.390.003
(flanking)1.3020.006
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 117
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      328ARSLHSQAPTSPRPSLGPSTVGAP
mutated  not conserved    328ARSLHSQAPTSHRPSLGPSTVGA
Ptroglodytes  all identical  ENSPTRG00000018100  423ARSPHSQAPTSPRPSLGPSTVGA
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000043286  437GSSVPIGSPESPRLLL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000086554  n/a
Dmelanogaster  no alignment  FBgn0036449  n/a
Celegans  no alignment  C05D11.7  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
326451COMPBIASPro-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1314 / 1314
position (AA) of stopcodon in wt / mu AA sequence 438 / 438
position of stopcodon in wt / mu cDNA 1453 / 1453
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 140 / 140
chromosome 6
strand 1
last intron/exon boundary 1324
theoretical NMD boundary in CDS 1134
length of CDS 1314
coding sequence (CDS) position 983
cDNA position
(for ins/del: last normal base / first normal base)		 1122
gDNA position
(for ins/del: last normal base / first normal base)		 59151
chromosomal position
(for ins/del: last normal base / first normal base)		 36270130
original gDNA sequence snippet CTCTCAGGCACCCACTTCACCCAGGCCATCCCTGGGGCCTT
altered gDNA sequence snippet CTCTCAGGCACCCACTTCACACAGGCCATCCCTGGGGCCTT
original cDNA sequence snippet CTCTCAGGCACCCACTTCACCCAGGCCATCCCTGGGGCCTT
altered cDNA sequence snippet CTCTCAGGCACCCACTTCACACAGGCCATCCCTGGGGCCTT
wildtype AA sequence MVQMMRQFLY RVLPEDSYKV TTGKLHVSLT RLTDGENVVV SEFTSKEELI EALYCSCFVP
VYCGLIPPTY RGVRYIDGGF TGMQPCAFWT DAITISTFSG QQDICPRDCP AIFHDFRMFN
CSFQFSLENI ARMTHALFPP DLVILHDYYY RGYEDAVLYL RRLNAVYLNS SSKRVIFPRV
EVYCQIELAL GNECPERSQP SLRARQASLE GATQPHKEWV PKGDGRGSHG PPVSQPVQTL
EFTCESPVSA PVSPLEQPPA QPLASSTPLS LSGMPPVSFP AVHKPPSSTP GSSLPTPPPG
LSPLSPQQQV QPSGSPARSL HSQAPTSPRP SLGPSTVGAP QTLPRSSLSA FPAQPPVEEL
GQEQPQAVAL LVSSKPKSAV PLVHVKETVS KPYVTESPAE DSNWVNKVFK KNKQKTSGTR
KGFPRHSGSK KPSSKVQ*
mutated AA sequence MVQMMRQFLY RVLPEDSYKV TTGKLHVSLT RLTDGENVVV SEFTSKEELI EALYCSCFVP
VYCGLIPPTY RGVRYIDGGF TGMQPCAFWT DAITISTFSG QQDICPRDCP AIFHDFRMFN
CSFQFSLENI ARMTHALFPP DLVILHDYYY RGYEDAVLYL RRLNAVYLNS SSKRVIFPRV
EVYCQIELAL GNECPERSQP SLRARQASLE GATQPHKEWV PKGDGRGSHG PPVSQPVQTL
EFTCESPVSA PVSPLEQPPA QPLASSTPLS LSGMPPVSFP AVHKPPSSTP GSSLPTPPPG
LSPLSPQQQV QPSGSPARSL HSQAPTSHRP SLGPSTVGAP QTLPRSSLSA FPAQPPVEEL
GQEQPQAVAL LVSSKPKSAV PLVHVKETVS KPYVTESPAE DSNWVNKVFK KNKQKTSGTR
KGFPRHSGSK KPSSKVQ*
speed 1.06 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