mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999981407734829 (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

ENST00000400166

Genbank transcript ID

NM_001207063

UniProt peptide

P78310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.584A>G
cDNA.668A>G
g.53059A>G

AA changes

H195R Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

195

frameshift

known variant

Reference ID: rs437470

database	homozygous (G/G)	heterozygous	allele carriers
1000G	123	691	814
ExAC	1440	13961	15401

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.568	0.993
	-3.017	0.038
(flanking)	5.199	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	53050	wt: 0.57 / mu: 0.72	wt: AGGGAAGATGTGCCA mu: AGGGAAGATGTGCCG	GGAA\|gatg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

195

mutated

not conserved

195

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)	feature	details
20	237	TOPO_DOM	Extracellular (Potential).	lost
141	228	DOMAIN	Ig-like C2-type 2.	lost
185	192	HELIX		might get lost (downstream of altered splice site)
195	201	STRAND		lost
201	201	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
208	215	STRAND		might get lost (downstream of altered splice site)
212	212	DISULFID	By similarity.	might get lost (downstream of altered splice site)
221	227	STRAND		might get lost (downstream of altered splice site)
238	258	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
259	259	LIPID	S-palmitoyl cysteine (Probable).	might get lost (downstream of altered splice site)
259	260	MUTAGEN	CC->AA: Loss of palmitoylation and altered localization.	might get lost (downstream of altered splice site)
259	365	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
260	260	LIPID	S-palmitoyl cysteine (Probable).	might get lost (downstream of altered splice site)
293	293	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
300	300	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
306	306	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
318	318	MUTAGEN	Y->A: Affects basolateral localization in airway epithelial cells.	might get lost (downstream of altered splice site)
323	323	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
332	332	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
345	348	MUTAGEN	LSRM->AAAA: Affects basolateral localization in airway epithelial cells.	might get lost (downstream of altered splice site)
360	365	MOTIF	PDZ-binding.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

759 / 759

position (AA) of stopcodon in wt / mu AA sequence

253 / 253

position of stopcodon in wt / mu cDNA

843 / 843

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

85 / 85

chromosome

strand

last intron/exon boundary

656

theoretical NMD boundary in CDS

521

length of CDS

759

coding sequence (CDS) position

584

cDNA position
(for ins/del: last normal base / first normal base)

668

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

GTTAGCAGGGAAGATGTGCCACCTCCAAAGAGCCGTACGTC

altered cDNA sequence snippet

GTTAGCAGGGAAGATGTGCCGCCTCCAAAGAGCCGTACGTC

wildtype AA sequence

MALLLCFVLL CGVVDFARSL SITTPEEMIE KAKGETAYLP CKFTLSPEDQ GPLDIEWLIS
PADNQKVDQV IILYSGDKIY DDYYPDLKGR VHFTSNDLKS GDASINVTNL QLSDIGTYQC
KVKKAPGVAN KKIHLVVLVK PSGARCYVDG SEEIGSDFKI KCEPKEGSLP LQYEWQKLSD
SQKMPTSWLA GKMCHLQRAV RPLPEATSAV IIHPWGPCLL PTWKDIPRLS ITKYQVKTLN
ALLRVRLSHL LR*

mutated AA sequence

MALLLCFVLL CGVVDFARSL SITTPEEMIE KAKGETAYLP CKFTLSPEDQ GPLDIEWLIS
PADNQKVDQV IILYSGDKIY DDYYPDLKGR VHFTSNDLKS GDASINVTNL QLSDIGTYQC
KVKKAPGVAN KKIHLVVLVK PSGARCYVDG SEEIGSDFKI KCEPKEGSLP LQYEWQKLSD
SQKMPTSWLA GKMCRLQRAV RPLPEATSAV IIHPWGPCLL PTWKDIPRLS ITKYQVKTLN
ALLRVRLSHL LR*

speed

0.92 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