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 ENST00000394571
Genbank transcript ID NM_001145717
UniProt peptide Q8N8W4
alteration type single base exchange
alteration region CDS
DNA changes c.1268C>A
cDNA.1268C>A
g.59151C>A
AA changes P423H Score: 77 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 423
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      423ARSLHSQAPTSPRPSLGPSTVGAP
mutated  not conserved    423TSHRPSLGPSTVGA
Ptroglodytes  all identical  ENSPTRG00000018100  423TSPRPSLGPSTVGA
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000043286  451GSSVPIGSPESPRLLLRSSQGATASRA
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 1599 / 1599
position (AA) of stopcodon in wt / mu AA sequence 533 / 533
position of stopcodon in wt / mu cDNA 1599 / 1599
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 1 / 1
chromosome 6
strand 1
last intron/exon boundary 1470
theoretical NMD boundary in CDS 1419
length of CDS 1599
coding sequence (CDS) position 1268
cDNA position
(for ins/del: last normal base / first normal base)		 1268
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 MEEQVFKGDP DTPHSISFSG SGFLSFYQAG AVDALRDLAP RMLETAHRFA GTSAGAVIAA
LAICGIEMDE YLRVLNVGVA EVKKSFLGPL SPSCKMVQMM RQFLYRVLPE DSYKVTTGKL
HVSLTRLTDG ENVVVSEFTS KEELIEALYC SCFVPVYCGL IPPTYRGVRY IDGGFTGMQP
CAFWTDAITI STFSGQQDIC PRDCPAIFHD FRMFNCSFQF SLENIARMTH ALFPPDLVIL
HDYYYRGYED AVLYLRRLNA VYLNSSSKRV IFPRVEVYCQ IELALGNECP ERSQPSLRAR
QASLEGATQP HKEWVPKGDG RGSHGPPVSQ PVQTLEFTCE SPVSAPVSPL EQPPAQPLAS
STPLSLSGMP PVSFPAVHKP PSSTPGSSLP TPPPGLSPLS PQQQVQPSGS PARSLHSQAP
TSPRPSLGPS TVGAPQTLPR SSLSAFPAQP PVEELGQEQP QAVALLVSSK PKSAVPLVHV
KETVSKPYVT ESPAEDSNWV NKVFKKNKQK TSGTRKGFPR HSGSKKPSSK VQ*
mutated AA sequence MEEQVFKGDP DTPHSISFSG SGFLSFYQAG AVDALRDLAP RMLETAHRFA GTSAGAVIAA
LAICGIEMDE YLRVLNVGVA EVKKSFLGPL SPSCKMVQMM RQFLYRVLPE DSYKVTTGKL
HVSLTRLTDG ENVVVSEFTS KEELIEALYC SCFVPVYCGL IPPTYRGVRY IDGGFTGMQP
CAFWTDAITI STFSGQQDIC PRDCPAIFHD FRMFNCSFQF SLENIARMTH ALFPPDLVIL
HDYYYRGYED AVLYLRRLNA VYLNSSSKRV IFPRVEVYCQ IELALGNECP ERSQPSLRAR
QASLEGATQP HKEWVPKGDG RGSHGPPVSQ PVQTLEFTCE SPVSAPVSPL EQPPAQPLAS
STPLSLSGMP PVSFPAVHKP PSSTPGSSLP TPPPGLSPLS PQQQVQPSGS PARSLHSQAP
TSHRPSLGPS TVGAPQTLPR SSLSAFPAQP PVEELGQEQP QAVALLVSSK PKSAVPLVHV
KETVSKPYVT ESPAEDSNWV NKVFKKNKQK TSGTRKGFPR HSGSKKPSSK VQ*
speed 1.37 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