Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999992119251173 (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) chr21:18937758A>GN/A show variant in all transcripts   IGV
HGNC symbol CXADR
Ensembl transcript ID ENST00000356275
Genbank transcript ID NM_001207065
UniProt peptide P78310
alteration type single base exchange
alteration region CDS
DNA changes c.223A>G
cDNA.223A>G
g.53059A>G
AA changes T75A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 75
frameshift no
known variant Reference ID: rs437470
databasehomozygous (G/G)heterozygousallele carriers
1000G123691814
ExAC14401396115401
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5680.993
-3.0170.038
(flanking)5.1991
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased53050wt: 0.57 / mu: 0.72wt: AGGGAAGATGTGCCA
mu: AGGGAAGATGTGCCG		 GGAA|gatg
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      75NQKVDQVGRCATSKEPYVHCQKLH
mutated  not conserved    75NQKVDQVGRCAASKEPYVHCQKL
Ptroglodytes  no alignment  ENSPTRG00000013795  n/a
Mmulatta  no alignment  ENSMMUG00000010755  n/a
Fcatus  no alignment  ENSFCAG00000002911  n/a
Mmusculus  no alignment  ENSMUSG00000022865  n/a
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000002408  n/a
Drerio  no alignment  ENSDARG00000043658  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000005780  n/a
protein features
start (aa)end (aa)featuredetails 
20134DOMAINIg-like C2-type 1.lost
20237TOPO_DOMExtracellular (Potential).lost
6875STRANDlost
7072MUTAGENVII->AID: Abolishes binding to adenovirus type 5.might get lost (downstream of altered splice site)
7880STRANDmight get lost (downstream of altered splice site)
8690TURNmight get lost (downstream of altered splice site)
9193STRANDmight get lost (downstream of altered splice site)
98100HELIXmight get lost (downstream of altered splice site)
105107STRANDmight get lost (downstream of altered splice site)
106106CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
112114HELIXmight get lost (downstream of altered splice site)
116124STRANDmight get lost (downstream of altered splice site)
120120DISULFIDmight get lost (downstream of altered splice site)
127138STRANDmight get lost (downstream of altered splice site)
141228DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
145148STRANDmight get lost (downstream of altered splice site)
156163STRANDmight get lost (downstream of altered splice site)
162162DISULFIDBy similarity.might get lost (downstream of altered splice site)
166168STRANDmight get lost (downstream of altered splice site)
171178STRANDmight get lost (downstream of altered splice site)
185192HELIXmight get lost (downstream of altered splice site)
195201STRANDmight get lost (downstream of altered splice site)
201201CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
208215STRANDmight get lost (downstream of altered splice site)
212212DISULFIDBy similarity.might get lost (downstream of altered splice site)
221227STRANDmight get lost (downstream of altered splice site)
238258TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
259259LIPIDS-palmitoyl cysteine (Probable).might get lost (downstream of altered splice site)
259260MUTAGENCC->AA: Loss of palmitoylation and altered localization.might get lost (downstream of altered splice site)
259365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
260260LIPIDS-palmitoyl cysteine (Probable).might get lost (downstream of altered splice site)
293293MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
300300MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
306306MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
318318MUTAGENY->A: Affects basolateral localization in airway epithelial cells.might get lost (downstream of altered splice site)
323323MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
332332MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
345348MUTAGENLSRM->AAAA: Affects basolateral localization in airway epithelial cells.might get lost (downstream of altered splice site)
360365MOTIFPDZ-binding.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 270 / 270
position (AA) of stopcodon in wt / mu AA sequence 90 / 90
position of stopcodon in wt / mu cDNA 270 / 270
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 21
strand 1
last intron/exon boundary 211
theoretical NMD boundary in CDS 160
length of CDS 270
coding sequence (CDS) position 223
cDNA position
(for ins/del: last normal base / first normal base)		 223
gDNA position
(for ins/del: last normal base / first normal base)		 53059
chromosomal position
(for ins/del: last normal base / first normal base)		 18937758
original gDNA sequence snippet CTTTGCAGGGAAGATGTGCCACCTCCAAAGAGCCGTACGTC
altered gDNA sequence snippet CTTTGCAGGGAAGATGTGCCGCCTCCAAAGAGCCGTACGTC
original cDNA sequence snippet ATCAAGTGGGAAGATGTGCCACCTCCAAAGAGCCGTACGTC
altered cDNA sequence snippet ATCAAGTGGGAAGATGTGCCGCCTCCAAAGAGCCGTACGTC
wildtype AA sequence MALLLCFVLL CGVVDFARSL SITTPEEMIE KAKGETAYLP CKFTLSPEDQ GPLDIEWLIS
PADNQKVDQV GRCATSKEPY VHCQKLHRQ*
mutated AA sequence MALLLCFVLL CGVVDFARSL SITTPEEMIE KAKGETAYLP CKFTLSPEDQ GPLDIEWLIS
PADNQKVDQV GRCAASKEPY VHCQKLHRQ*
speed 0.99 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