mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.99998210354813 (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)

chr19:6903920A>GN/A show variant in all transcripts IGV

HGNC symbol

ADGRE1

Ensembl transcript ID

ENST00000450315

Genbank transcript ID

NM_001256255

UniProt peptide

Q14246

alteration type

single base exchange

alteration region

intron

DNA changes

g.16339A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs443658

database	homozygous (G/G)	heterozygous	allele carriers
1000G	545	1077	1622
ExAC	7049	18669	25718

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.566	0.236
	0.252	0.243
(flanking)	0.683	0.26

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
Acc increased	16332	wt: 0.39 / mu: 0.51	wt: CCTGCCACCCTGGCTTTGCACCAAGCAATGGACAGTTGAAT mu: CCTGCCACCCTGGCTTTGCACCAAGCAGTGGACAGTTGAAT	gcac\|CAAG
Donor increased	16330	wt: 0.81 / mu: 0.91	wt: CTTTGCACCAAGCAA mu: CTTTGCACCAAGCAG	TTGC\|acca
Donor gained	16338	0.59	mu: CAAGCAGTGGACAGT	AGCA\|gtgg

distance from splice site

2524

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
21	599	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
132	171	DOMAIN	EGF-like 3; calcium-binding (Potential).	might get lost (downstream of altered splice site)
142	142	DISULFID	By similarity.	might get lost (downstream of altered splice site)
148	148	DISULFID	By similarity.	might get lost (downstream of altered splice site)
157	157	DISULFID	By similarity.	might get lost (downstream of altered splice site)
159	159	DISULFID	By similarity.	might get lost (downstream of altered splice site)
167	167	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
170	170	DISULFID	By similarity.	might get lost (downstream of altered splice site)
172	220	DOMAIN	EGF-like 4; calcium-binding (Potential).	might get lost (downstream of altered splice site)
176	176	DISULFID	By similarity.	might get lost (downstream of altered splice site)
182	182	DISULFID	By similarity.	might get lost (downstream of altered splice site)
188	188	DISULFID	By similarity.	might get lost (downstream of altered splice site)
189	189	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
194	194	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
197	197	DISULFID	By similarity.	might get lost (downstream of altered splice site)
199	199	DISULFID	By similarity.	might get lost (downstream of altered splice site)
212	212	CONFLICT	F -> C (in Ref. 1; CAA57232).	might get lost (downstream of altered splice site)
219	219	DISULFID	By similarity.	might get lost (downstream of altered splice site)
221	267	DOMAIN	EGF-like 5; calcium-binding (Potential).	might get lost (downstream of altered splice site)
225	225	DISULFID	By similarity.	might get lost (downstream of altered splice site)
229	229	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	232	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
235	235	DISULFID	By similarity.	might get lost (downstream of altered splice site)
244	244	DISULFID	By similarity.	might get lost (downstream of altered splice site)
246	246	DISULFID	By similarity.	might get lost (downstream of altered splice site)
258	258	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
266	266	DISULFID	By similarity.	might get lost (downstream of altered splice site)
268	316	DOMAIN	EGF-like 6; calcium-binding (Potential).	might get lost (downstream of altered splice site)
272	272	DISULFID	By similarity.	might get lost (downstream of altered splice site)
279	279	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
294	294	DISULFID	By similarity.	might get lost (downstream of altered splice site)
296	296	DISULFID	By similarity.	might get lost (downstream of altered splice site)
312	312	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
315	315	DISULFID	By similarity.	might get lost (downstream of altered splice site)
317	599	COMPBIAS	Ser/Thr-rich.	might get lost (downstream of altered splice site)
366	366	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
375	375	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
430	430	CONFLICT	T -> A (in Ref. 1; CAA57232).	might get lost (downstream of altered splice site)
448	448	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
547	596	DOMAIN	GPS.	might get lost (downstream of altered splice site)
600	627	TRANSMEM	Helical; Name=1; (Potential).	might get lost (downstream of altered splice site)
628	634	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
635	656	TRANSMEM	Helical; Name=2; (Potential).	might get lost (downstream of altered splice site)
657	666	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
667	690	TRANSMEM	Helical; Name=3; (Potential).	might get lost (downstream of altered splice site)
691	709	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
710	731	TRANSMEM	Helical; Name=4; (Potential).	might get lost (downstream of altered splice site)
732	747	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
748	776	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
777	794	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
795	814	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)
815	829	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
830	852	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
853	886	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

22 / 22

chromosome

strand

last intron/exon boundary

2146

theoretical NMD boundary in CDS

2074

length of CDS

2130

coding sequence (CDS) position

N/A

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

N/A

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

16339

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

6903920

original gDNA sequence snippet

CCCTGGCTTTGCACCAAGCAATGGACAGTTGAATTTCACAG

altered gDNA sequence snippet

CCCTGGCTTTGCACCAAGCAGTGGACAGTTGAATTTCACAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCACKQ
GFLSSNGQNH FKDPGVRCKD IDECSQSPQP CGPNSSCKNL SGRYKCSCLD GFSSPTGNDW
VPGKPGNFSC TDINECLTSR VLFKCKEDVI PDNKQIQQCQ EGTAVKPAYV SFCAQINNIF
SVLDKVCENK TTVVSLKNTT ESFVPVLKQI STWTKFTKEE TSSLATVFLE SVESMTLASF
WKPSANITPA VRTEYLDIES KVINKECSEE NVTLDLVAKG DKMKIGCSTI EESESTETTG
VAFVSFVGME SVLNERFFKD HQAPLTTSEI KLKMNSRVVG GIMTGEKKDG FSDPIIYTLE
NIQPKQKFER PICVSWSTDV KGGRWTSFGC VILEASETYT ICSCNQMANL AVIMASGELT
MDFSLYIISH VGIIISLVCL VLAIATFLLC RSIRNHNTYL HLHLCVCLLL AKTLFLAGIH
KTDNKMGCAI IAGFLHYLFL ACFFWMLVEA VILFLMVRNL KVVNYFSSRN IKMLHICAFG
YGLPMLVVVI SASVQPQGYG MHNRCWLNTE TGFIWSFLGP VCTVIVINSL LLTWTLWILR
QRLSSVNAEV STLKDTRLLT FKAFAQLFIL GCSWVLGIFQ IGPVAGVMAY LFTIINSLQG
AFIFLIHCLL NGQVREEYKR WITGKTKPSS QSQTSRILLS SMPSASKTG*

mutated AA sequence

N/A

speed

0.78 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