Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999931 (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) chr19:55317669C>GN/A show variant in all transcripts   IGV
HGNC symbol KIR2DL4
Ensembl transcript ID ENST00000357494
Genbank transcript ID N/A
UniProt peptide Q99706
alteration type single base exchange
alteration region CDS
DNA changes c.625C>G
cDNA.637C>G
g.81668C>G
AA changes P209A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 209
frameshift no
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
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 increased81666wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
Donor increased81664wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      209SFHGSPYEWSDPSDPLPVSVTDAA
mutated  not conserved    209SFHGSPYEWSDASDPLPVSVTDA
Ptroglodytes  not conserved  ENSPTRG00000011472  209SFHESPYEWSNSSDPLLVSVTGNPSSSWPSPTEPSFKTGIARH
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  207ANSYYPYEWSDSSDPIDIKIT
Ggallus  no alignment  ENSGALG00000018732  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22242TOPO_DOMExtracellular (Potential).lost
229229CONFLICTT -> P (in Ref. 7; AAD24763).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
264377TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 978 / 978
position (AA) of stopcodon in wt / mu AA sequence 326 / 326
position of stopcodon in wt / mu cDNA 990 / 990
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 13 / 13
chromosome 19
strand 1
last intron/exon boundary 721
theoretical NMD boundary in CDS 658
length of CDS 978
coding sequence (CDS) position 625
cDNA position
(for ins/del: last normal base / first normal base)		 637
gDNA position
(for ins/del: last normal base / first normal base)		 81668
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered cDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
wildtype AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA
DFPLGPATHG ETYRCFGSFH GSPYEWSDPS DPLPVSVTDA AVMNQEPAGH RTVNREDSDE
QDPQEVTYAQ LDHCIFTQRK ITGPSQRSKR PSTDTSVCIE LPNAEPRALS PAHEHHSQAL
MGSSRETTAL SQTQLASSNV PAAGI*
mutated AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA
DFPLGPATHG ETYRCFGSFH GSPYEWSDAS DPLPVSVTDA AVMNQEPAGH RTVNREDSDE
QDPQEVTYAQ LDHCIFTQRK ITGPSQRSKR PSTDTSVCIE LPNAEPRALS PAHEHHSQAL
MGSSRETTAL SQTQLASSNV PAAGI*
speed 0.83 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