Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.994793033654807 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:118364967G>CN/A show variant in all transcripts   IGV
HGNC symbol PNLIPRP1
Ensembl transcript ID ENST00000528052
Genbank transcript ID N/A
UniProt peptide P54315
alteration type single base exchange
alteration region CDS
DNA changes c.1242G>C
cDNA.1313G>C
g.15071G>C
AA changes E414D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 414
frameshift no
known variant Reference ID: rs2305204
databasehomozygous (C/C)heterozygousallele carriers
1000G99430529
ExAC1091911310204
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7350.998
0.8451
(flanking)2.3371
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 increased15074wt: 0.9985 / mu: 0.9990 (marginal change - not scored)wt: GAGAAAGTCAAGTTT
mu: GACAAAGTCAAGTTT		 GAAA|gtca
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      414EFDAKLDVGTIEKVKFLWNNNVIN
mutated  all conserved    414EFDAKLDVGTIDKVKFLW
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000002724  n/a
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000042179  414EFDAKLDVGTIEKVKFLW
Ggallus  not conserved  ENSGALG00000009231  413FVDAEHKVGKVTKVKFL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0029831  n/a
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000004181  413FIDVESDVGTLDKVKFVWNNN
protein features
start (aa)end (aa)featuredetails 
356467DOMAINPLAT.lost
412421STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1404 / 1404
position (AA) of stopcodon in wt / mu AA sequence 468 / 468
position of stopcodon in wt / mu cDNA 1475 / 1475
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 72 / 72
chromosome 10
strand 1
last intron/exon boundary 1412
theoretical NMD boundary in CDS 1290
length of CDS 1404
coding sequence (CDS) position 1242
cDNA position
(for ins/del: last normal base / first normal base)		 1313
gDNA position
(for ins/del: last normal base / first normal base)		 15071
chromosomal position
(for ins/del: last normal base / first normal base)		 118364967
original gDNA sequence snippet CTGGATGTTGGAACAATTGAGAAAGTCAAGTTTCTTTGGAA
altered gDNA sequence snippet CTGGATGTTGGAACAATTGACAAAGTCAAGTTTCTTTGGAA
original cDNA sequence snippet CTGGATGTTGGAACAATTGAGAAAGTCAAGTTTCTTTGGAA
altered cDNA sequence snippet CTGGATGTTGGAACAATTGACAAAGTCAAGTTTCTTTGGAA
wildtype AA sequence MLIFWTITLF LLGAAKGKEV CYEDLGCFSD TEPWGGTAIR PLKILPWSPE KIGTRFLLYT
NENPNNFQIL LLSDPSTIEA SNFQMDRKTR FIIHGFIDKG DESWVTDMCK KLFEVEEVNC
ICVDWKKGSQ ATYTQAANNV RVVGAQVAQM LDILLTEYSY PPSKVHLIGH SLGAHVAGEA
GSKTPGLSRI TGLDPVEASF ESTPEEVRLD PSDADFVDVI HTDAAPLIPF LGFGTNQQMG
HLDFFPNGGE SMPGCKKNAL SQIVDLDGIW AGTRDFVACN HLRSYKYYLE SILNPDGFAA
YPCTSYKSFE SDKCFPCPDQ GCPQMGHYAD KFAGRTSEEQ QKFFLNTGEA SNFARWRYGV
SITLSGRTAT GQIKVALFGN KGNTHQYSIF RGILKPGSTH SYEFDAKLDV GTIEKVKFLW
NNNVINPTLP KVGATKITVQ KGEEKTVYNF CSEDTVREDT LLTLTPC*
mutated AA sequence MLIFWTITLF LLGAAKGKEV CYEDLGCFSD TEPWGGTAIR PLKILPWSPE KIGTRFLLYT
NENPNNFQIL LLSDPSTIEA SNFQMDRKTR FIIHGFIDKG DESWVTDMCK KLFEVEEVNC
ICVDWKKGSQ ATYTQAANNV RVVGAQVAQM LDILLTEYSY PPSKVHLIGH SLGAHVAGEA
GSKTPGLSRI TGLDPVEASF ESTPEEVRLD PSDADFVDVI HTDAAPLIPF LGFGTNQQMG
HLDFFPNGGE SMPGCKKNAL SQIVDLDGIW AGTRDFVACN HLRSYKYYLE SILNPDGFAA
YPCTSYKSFE SDKCFPCPDQ GCPQMGHYAD KFAGRTSEEQ QKFFLNTGEA SNFARWRYGV
SITLSGRTAT GQIKVALFGN KGNTHQYSIF RGILKPGSTH SYEFDAKLDV GTIDKVKFLW
NNNVINPTLP KVGATKITVQ KGEEKTVYNF CSEDTVREDT LLTLTPC*
speed 0.88 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