Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.02301697360594e-11 (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) chr21:18937758A>GN/A show variant in all transcripts   IGV
HGNC symbol CXADR
Ensembl transcript ID ENST00000306618
Genbank transcript ID N/A
UniProt peptide P78310
alteration type single base exchange
alteration region CDS
DNA changes c.723A>G
cDNA.723A>G
g.53059A>G
AA changes no AA changes
position(s) of altered AA
if AA alteration in CDS		 N/A
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		 N/A
protein features
start (aa)end (aa)featuredetails 
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 no
position of stopcodon in wt / mu CDS 975 / 975
position (AA) of stopcodon in wt / mu AA sequence 325 / 325
position of stopcodon in wt / mu cDNA 975 / 975
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 711
theoretical NMD boundary in CDS 660
length of CDS 975
coding sequence (CDS) position 723
cDNA position
(for ins/del: last normal base / first normal base)		 723
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 GATATCAGGGAAGATGTGCCACCTCCAAAGAGCCGTACGTC
altered cDNA sequence snippet GATATCAGGGAAGATGTGCCGCCTCCAAAGAGCCGTACGTC
wildtype AA sequence MALLLCFVLL CGVVDFARSL SITTPEEMIE KAKGETAYLP CKFTLSPEDQ GPLDIEWLIS
PADNQKVDQV IILYSGDKIY DDYYPDLKGR VHFTSNDLKS GDASINVTNL QLSDIGTYQC
KVKKAPGVAN KKIHLVVLVK PSGARCYVDG SEEIGSDFKI KCEPKEGSLP LQYEWQKLSD
SQKMPTSWLA ASNKAGLIAG AIIGTLLALA LIGLIIFCCR KKRREEKYEK EVHHDIREDV
PPPKSRTSTA RSYIGSNHSS LGSMSPSNME GYSKTQYNQV PSEDFERTPQ SPTLPPAKVA
APNLSRMGAI PVMIPAQSKD GSIV*
mutated AA sequence MALLLCFVLL CGVVDFARSL SITTPEEMIE KAKGETAYLP CKFTLSPEDQ GPLDIEWLIS
PADNQKVDQV IILYSGDKIY DDYYPDLKGR VHFTSNDLKS GDASINVTNL QLSDIGTYQC
KVKKAPGVAN KKIHLVVLVK PSGARCYVDG SEEIGSDFKI KCEPKEGSLP LQYEWQKLSD
SQKMPTSWLA ASNKAGLIAG AIIGTLLALA LIGLIIFCCR KKRREEKYEK EVHHDIREDV
PPPKSRTSTA RSYIGSNHSS LGSMSPSNME GYSKTQYNQV PSEDFERTPQ SPTLPPAKVA
APNLSRMGAI PVMIPAQSKD GSIV*
speed 0.51 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