Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999987 (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) chr19:43269699C>TN/A show variant in all transcripts   IGV
HGNC symbol PSG8
Ensembl transcript ID ENST00000306511
Genbank transcript ID NM_182707
UniProt peptide Q9UQ74
alteration type single base exchange
alteration region CDS
DNA changes c.35G>A
cDNA.133G>A
g.150G>A
AA changes R12H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 12
frameshift no
known variant Reference ID: rs7260508
databasehomozygous (T/T)heterozygousallele carriers
1000G4568741330
ExAC62702022726497
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0470
-1.7750
(flanking)1.0760.003
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 increased144wt: 0.9593 / mu: 0.9638 (marginal change - not scored)wt: CCTCTCAGCCCCTCCCTGCACACAGCGCATCACCTGGAAGG
mu: CCTCTCAGCCCCTCCCTGCACACAGCACATCACCTGGAAGG		 gcac|ACAG
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      12MGLLSAPPCTQRITWKGLLLTASL
mutated  not conserved    12MGLLSAPPCTQHITWKGLLLTAS
Ptroglodytes  not conserved  ENSPTRG00000039356  12MGLLSAPPCMQHITWKGLLLTAS
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
134SIGNALPotential.lost
1012CONFLICTTQR -> MQH (in Ref. 2; CAH18672).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1281 / 1281
position (AA) of stopcodon in wt / mu AA sequence 427 / 427
position of stopcodon in wt / mu cDNA 1379 / 1379
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 99 / 99
chromosome 19
strand -1
last intron/exon boundary 1087
theoretical NMD boundary in CDS 938
length of CDS 1281
coding sequence (CDS) position 35
cDNA position
(for ins/del: last normal base / first normal base)		 133
gDNA position
(for ins/del: last normal base / first normal base)		 150
chromosomal position
(for ins/del: last normal base / first normal base)		 43269699
original gDNA sequence snippet AGCCCCTCCCTGCACACAGCGCATCACCTGGAAGGGGCTCC
altered gDNA sequence snippet AGCCCCTCCCTGCACACAGCACATCACCTGGAAGGGGCTCC
original cDNA sequence snippet AGCCCCTCCCTGCACACAGCGCATCACCTGGAAGGGGCTCC
altered cDNA sequence snippet AGCCCCTCCCTGCACACAGCACATCACCTGGAAGGGGCTCC
wildtype AA sequence MGLLSAPPCT QRITWKGLLL TASLLNFWNP PTTAQVTIEA QPTKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QIRDLYHYIT SYVVDGQIII YGPAYSGRET IYSNASLLIQ NVTQEDAGSY
TLHIIMGGDE NRGVTGHFTF TLYLETPKPS ISSSKLNPRE AMEAVSLTCD PETPDASYLW
WMNGQSLPMS HRLQLSETNR TLFLLGVTKY TAGPYECEIR NPVSASRSDP FTLNLLPKLP
KPYITINNLK PRENKDVLNF TCEPKSENYT YIWWLNGQSL PVSPRVKRPI ENRILILPSV
TRNETGPYQC EIRDQYGGIR SYPVTLNVLY GPDLPRIYPS FTYYRSGEVL YLSCSADSNP
PAQYSWTING KFQLSGQKLF IPQITTKHSG LYACSVRNSA TGKESSKSMT VKVSGKRIPV
SLAIGI*
mutated AA sequence MGLLSAPPCT QHITWKGLLL TASLLNFWNP PTTAQVTIEA QPTKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QIRDLYHYIT SYVVDGQIII YGPAYSGRET IYSNASLLIQ NVTQEDAGSY
TLHIIMGGDE NRGVTGHFTF TLYLETPKPS ISSSKLNPRE AMEAVSLTCD PETPDASYLW
WMNGQSLPMS HRLQLSETNR TLFLLGVTKY TAGPYECEIR NPVSASRSDP FTLNLLPKLP
KPYITINNLK PRENKDVLNF TCEPKSENYT YIWWLNGQSL PVSPRVKRPI ENRILILPSV
TRNETGPYQC EIRDQYGGIR SYPVTLNVLY GPDLPRIYPS FTYYRSGEVL YLSCSADSNP
PAQYSWTING KFQLSGQKLF IPQITTKHSG LYACSVRNSA TGKESSKSMT VKVSGKRIPV
SLAIGI*
speed 0.71 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