Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999916 (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) chr19:43382368T>GN/A show variant in all transcripts   IGV
HGNC symbol PSG1
Ensembl transcript ID ENST00000244296
Genbank transcript ID NM_006905
UniProt peptide P11464
alteration type single base exchange
alteration region CDS
DNA changes c.127A>C
cDNA.265A>C
g.1504A>C
AA changes T43P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 43
frameshift no
known variant Reference ID: rs707745
databasehomozygous (G/G)heterozygousallele carriers
1000G50111631664
ExAC41952437728572
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1870
-0.750
(flanking)-2.2660
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1503wt: 0.27 / mu: 0.59wt: GAGCCAACCAAAGTT
mu: GAGCCACCCAAAGTT		 GCCA|acca
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      43TTAQVTIEAEPTKVSEGKDVLLLV
mutated  not conserved    43TTAQVTIEAEPPKVSEGKDVLLL
Ptroglodytes  not conserved  ENSPTRG00000038796  43TTAQVTIEAQPPKVSKGKDVLLL
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 
35144DOMAINIg-like V-type.lost
4143CONFLICTEPT -> QPP (in Ref. 4, 5 and 6).lost
6161CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
104104CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
111111CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
149234DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
169169DISULFIDProbable.might get lost (downstream of altered splice site)
199199CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
217217DISULFIDProbable.might get lost (downstream of altered splice site)
240327DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
259259CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
262262DISULFIDProbable.might get lost (downstream of altered splice site)
268268CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
303303CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
310310DISULFIDProbable.might get lost (downstream of altered splice site)
319319CONFLICTI -> V (in Ref. 5 and 6).might get lost (downstream of altered splice site)
335410DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
354354DISULFIDProbable.might get lost (downstream of altered splice site)
394394DISULFIDProbable.might get lost (downstream of altered splice site)
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 1419 / 1419
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 139 / 139
chromosome 19
strand -1
last intron/exon boundary 1127
theoretical NMD boundary in CDS 938
length of CDS 1281
coding sequence (CDS) position 127
cDNA position
(for ins/del: last normal base / first normal base)		 265
gDNA position
(for ins/del: last normal base / first normal base)		 1504
chromosomal position
(for ins/del: last normal base / first normal base)		 43382368
original gDNA sequence snippet TCACGATTGAAGCCGAGCCAACCAAAGTTTCCGAGGGGAAG
altered gDNA sequence snippet TCACGATTGAAGCCGAGCCACCCAAAGTTTCCGAGGGGAAG
original cDNA sequence snippet TCACGATTGAAGCCGAGCCAACCAAAGTTTCCGAGGGGAAG
altered cDNA sequence snippet TCACGATTGAAGCCGAGCCACCCAAAGTTTCCGAGGGGAAG
wildtype AA sequence MGTLSAPPCT QRIKWKGLLL TASLLNFWNL PTTAQVTIEA EPTKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMRDLYHYIT SYVVDGEIII YGPAYSGRET AYSNASLLIQ NVTREDAGSY
TLHIIKGDDG TRGVTGRFTF TLHLETPKPS ISSSNLNPRE TMEAVSLTCD PETPDASYLW
WMNGQSLPMT HSLKLSETNR TLFLLGVTKY TAGPYECEIR NPVSASRSDP VTLNLLPKLP
KPYITINNLN PRENKDVLNF TCEPKSENYT YIWWLNGQSL PVSPRVKRPI ENRILILPSV
TRNETGPYQC EIRDRYGGIR SDPVTLNVLY GPDLPRIYPS FTYYRSGEVL YLSCSADSNP
PAQYSWTINE KFQLPGQKLF IRHITTKHSG LYVCSVRNSA TGKESSKSMT VEVSGKWIPA
SLAIGF*
mutated AA sequence MGTLSAPPCT QRIKWKGLLL TASLLNFWNL PTTAQVTIEA EPPKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMRDLYHYIT SYVVDGEIII YGPAYSGRET AYSNASLLIQ NVTREDAGSY
TLHIIKGDDG TRGVTGRFTF TLHLETPKPS ISSSNLNPRE TMEAVSLTCD PETPDASYLW
WMNGQSLPMT HSLKLSETNR TLFLLGVTKY TAGPYECEIR NPVSASRSDP VTLNLLPKLP
KPYITINNLN PRENKDVLNF TCEPKSENYT YIWWLNGQSL PVSPRVKRPI ENRILILPSV
TRNETGPYQC EIRDRYGGIR SDPVTLNVLY GPDLPRIYPS FTYYRSGEVL YLSCSADSNP
PAQYSWTINE KFQLPGQKLF IRHITTKHSG LYVCSVRNSA TGKESSKSMT VEVSGKWIPA
SLAIGF*
speed 0.13 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