Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999927746 (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) chr19:55143157G>AN/A show variant in all transcripts   IGV
HGNC symbol LILRB1
Ensembl transcript ID ENST00000448689
Genbank transcript ID N/A
UniProt peptide Q8NHL6
alteration type single base exchange
alteration region CDS
DNA changes c.277G>A
cDNA.277G>A
g.57812G>A
AA changes A93T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 93
frameshift no
known variant Reference ID: rs12460501
databasehomozygous (A/A)heterozygousallele carriers
1000G191689880
ExAC29091697819887
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.480.011
-0.0420.034
(flanking)1.4870.103
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 increased57803wt: 0.7336 / mu: 0.8042 (marginal change - not scored)wt: TCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTAT
mu: TCCCCATCCCATCCATCACCTGGGAACATACAGGGCGGTAT		 acct|GGGA
Donor increased57804wt: 0.73 / mu: 0.93wt: CACCTGGGAACATGC
mu: CACCTGGGAACATAC		 CCTG|ggaa
Donor marginally increased57814wt: 0.7674 / mu: 0.7820 (marginal change - not scored)wt: CATGCAGGGCGGTAT
mu: CATACAGGGCGGTAT		 TGCA|gggc
Donor increased57803wt: 0.42 / mu: 0.55wt: TCACCTGGGAACATG
mu: TCACCTGGGAACATA		 ACCT|ggga
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      93QFPIPSITWEHAGRYRCYYGSDTA
mutated  not conserved    93QFPIPSITWEHTGRYRCYYGSDT
Ptroglodytes  all identical  ENSPTRG00000011467  93QFPIPPITWEDAGRYRCYYGSHT
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 
24461TOPO_DOMExtracellular (Potential).lost
27115DOMAINIg-like C2-type 1.lost
9092HELIXmight get lost (downstream of altered splice site)
94102STRANDmight get lost (downstream of altered splice site)
9898DISULFIDmight get lost (downstream of altered splice site)
103105TURNmight get lost (downstream of altered splice site)
114119STRANDmight get lost (downstream of altered splice site)
116221DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
126131STRANDmight get lost (downstream of altered splice site)
133136STRANDmight get lost (downstream of altered splice site)
141146STRANDmight get lost (downstream of altered splice site)
145145DISULFIDmight get lost (downstream of altered splice site)
152159STRANDmight get lost (downstream of altered splice site)
157157DISULFIDmight get lost (downstream of altered splice site)
167167DISULFIDmight get lost (downstream of altered splice site)
167169STRANDmight get lost (downstream of altered splice site)
172174HELIXmight get lost (downstream of altered splice site)
179184STRANDmight get lost (downstream of altered splice site)
193200STRANDmight get lost (downstream of altered splice site)
197197DISULFIDmight get lost (downstream of altered splice site)
204208STRANDmight get lost (downstream of altered splice site)
215220STRANDmight get lost (downstream of altered splice site)
222312DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
246246DISULFIDPotential.might get lost (downstream of altered splice site)
281281CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
297297DISULFIDPotential.might get lost (downstream of altered splice site)
302302CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
313409DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
341341CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
346346DISULFIDPotential.might get lost (downstream of altered splice site)
397397DISULFIDPotential.might get lost (downstream of altered splice site)
462482TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
483650TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
531536MOTIFITIM motif 1.might get lost (downstream of altered splice site)
533533MUTAGENY->F: Impairs receptor phosphorylation and abolishes inhibition of serotonin release. No effect on PTPN6 binding; when associated with F-562.might get lost (downstream of altered splice site)
533533MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
557557CONFLICTP -> L (in Ref. 4; AAL36989).might get lost (downstream of altered splice site)
560565MOTIFITIM motif 2.might get lost (downstream of altered splice site)
562562MUTAGENY->F: No effect on PTPN6 binding; when associated with F-533.might get lost (downstream of altered splice site)
612617MOTIFITIM motif 3.might get lost (downstream of altered splice site)
614614MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
614614MUTAGENY->F: No effect on PTPN6 binding. Abolishes PTPN6 binding; when associated with F-644.might get lost (downstream of altered splice site)
642647MOTIFITIM motif 4.might get lost (downstream of altered splice site)
644644MUTAGENY->F: Reduces PTPN6 binding. Abolishes PTPN6 binding; when associated with F- 614.might get lost (downstream of altered splice site)
644644MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1533 / 1533
position (AA) of stopcodon in wt / mu AA sequence 511 / 511
position of stopcodon in wt / mu cDNA 1533 / 1533
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 1 / 1
chromosome 19
strand 1
last intron/exon boundary 1731
theoretical NMD boundary in CDS 1680
length of CDS 1533
coding sequence (CDS) position 277
cDNA position
(for ins/del: last normal base / first normal base)		 277
gDNA position
(for ins/del: last normal base / first normal base)		 57812
chromosomal position
(for ins/del: last normal base / first normal base)		 55143157
original gDNA sequence snippet CATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTAC
altered gDNA sequence snippet CATCCATCACCTGGGAACATACAGGGCGGTATCGCTGTTAC
original cDNA sequence snippet CATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTAC
altered cDNA sequence snippet CATCCATCACCTGGGAACATACAGGGCGGTATCGCTGTTAC
wildtype AA sequence MTPILTVLIC LGLSLGPRTH VQAGHLPKPT LWAEPGSVIT QGSPVTLRCQ GGQETQEYRL
YREKKTALWI TRIPQELVKK GQFPIPSITW EHAGRYRCYY GSDTAGRSES SDPLELVVTG
AYIKPTLSAQ PSPVVNSGGN VILQCDSQVA FDGFSLCKEG EDEHPQCLNS QPHARGSSRA
IFSVGPVSPS RRWWYRCYAY DSNSPYEWSL PSDLLELLVL GVSKKPSLSV QPGPIVAPEE
TLTLQCGSDA GYNRFVLYKD GERDFLQLAG AQPQAGLSQA NFTLGPVSRS YGGQYRCYGA
HNLSSEWSAP SDPLDILIAG QFYDRVSLSV QPGPTVASGE NVTLLCQSQG WMQTFLLTKE
GAADDPWRLR STYQSQKYQA EFPMGPVTSA HAGTYRCYGS QSSKPYLLTH PSDPLELVVS
GPSGGPSSPT TGPTSTSGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVI LLLLLLLLLF
LILRHRRQGK HWTSSPAQLP MPRKKTSMLP *
mutated AA sequence MTPILTVLIC LGLSLGPRTH VQAGHLPKPT LWAEPGSVIT QGSPVTLRCQ GGQETQEYRL
YREKKTALWI TRIPQELVKK GQFPIPSITW EHTGRYRCYY GSDTAGRSES SDPLELVVTG
AYIKPTLSAQ PSPVVNSGGN VILQCDSQVA FDGFSLCKEG EDEHPQCLNS QPHARGSSRA
IFSVGPVSPS RRWWYRCYAY DSNSPYEWSL PSDLLELLVL GVSKKPSLSV QPGPIVAPEE
TLTLQCGSDA GYNRFVLYKD GERDFLQLAG AQPQAGLSQA NFTLGPVSRS YGGQYRCYGA
HNLSSEWSAP SDPLDILIAG QFYDRVSLSV QPGPTVASGE NVTLLCQSQG WMQTFLLTKE
GAADDPWRLR STYQSQKYQA EFPMGPVTSA HAGTYRCYGS QSSKPYLLTH PSDPLELVVS
GPSGGPSSPT TGPTSTSGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVI LLLLLLLLLF
LILRHRRQGK HWTSSPAQLP MPRKKTSMLP *
speed 1.10 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