Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999880767691 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr19:43680051C>TN/A show variant in all transcripts   IGV
HGNC symbol PSG5
Ensembl transcript ID ENST00000407568
Genbank transcript ID N/A
UniProt peptide Q15238
alteration type single base exchange
alteration region intron
DNA changes g.10638G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1058285
databasehomozygous (T/T)heterozygousallele carriers
1000G15147902304
ExAC27652-225375115
regulatory features H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8450.061
-0.9160.029
(flanking)-0.1380.012
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 increased10640wt: 0.9246 / mu: 0.9368 (marginal change - not scored)wt: TGCGCAGTGACCCAG
mu: TGCACAGTGACCCAG		 CGCA|gtga
Donor increased10630wt: 0.71 / mu: 0.88wt: GATGGTGGCATGCGC
mu: GATGGTGGCATGCAC		 TGGT|ggca
Donor marginally increased10635wt: 0.8436 / mu: 0.8579 (marginal change - not scored)wt: TGGCATGCGCAGTGA
mu: TGGCATGCACAGTGA		 GCAT|gcgc
distance from splice site 5761
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
35144DOMAINIg-like V-type.might get lost (downstream of altered splice site)
147234DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
169169DISULFIDProbable.might get lost (downstream of altered splice site)
175175CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
195195CONFLICTR -> Q (in Ref. 1; no nucleotide entry and 5; AAH12607).might get lost (downstream of altered splice site)
210210CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
217217DISULFIDProbable.might get lost (downstream of altered splice site)
232232CONFLICTT -> S (in Ref. 2; AAA60205 and 3; AAA36514).might get lost (downstream of altered splice site)
239317DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
240240CONFLICTD -> Y (in Ref. 3; AAA36514).might get lost (downstream of altered splice site)
261261DISULFIDProbable.might get lost (downstream of altered splice site)
288288CONFLICTI -> M (in Ref. 3; AAA36514).might get lost (downstream of altered splice site)
301301DISULFIDProbable.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 90 / 90
chromosome 19
strand -1
last intron/exon boundary 604
theoretical NMD boundary in CDS 464
length of CDS 474
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 10638
chromosomal position
(for ins/del: last normal base / first normal base)		 43680051
original gDNA sequence snippet GGACCGAGATGGTGGCATGCGCAGTGACCCAGTCACCCTGA
altered gDNA sequence snippet GGACCGAGATGGTGGCATGCACAGTGACCCAGTCACCCTGA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGPLSAPPCT QHITWKGLLL TASLLNFWNL PITAQVTIEA LPPKVSEGKD VLLLVHNLPQ
NLAGYIWYKG QLMDLYHYIT SYVVDGQINI YGPAYTGRET VYSNASLLIQ NVTREDAGSY
TLHIIKRGDR TRGVTGYFTF NLYPPSGIGR LPLLNPI*
mutated AA sequence N/A
speed 0.79 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