mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999505383042 (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)

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

HGNC symbol

ADGRE1

Ensembl transcript ID

ENST00000312053

Genbank transcript ID

NM_001974

UniProt peptide

Q14246

alteration type

single base exchange

alteration region

CDS

DNA changes

c.761A>G
cDNA.799A>G
g.16339A>G

AA changes

N254S Score: 46 explain score(s)

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

254

frameshift

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

254

mutated

all conserved

254

Ptroglodytes

all identical

ENSPTRG00000010379

254

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000005054

251

Mmusculus

all identical

ENSMUSG00000004730

305

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
21	599	TOPO_DOM	Extracellular (Potential).	lost
221	267	DOMAIN	EGF-like 5; calcium-binding (Potential).	lost
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2661 / 2661

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

887 / 887

position of stopcodon in wt / mu cDNA

2699 / 2699

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

39 / 39

chromosome

strand

last intron/exon boundary

2694

theoretical NMD boundary in CDS

2605

length of CDS

2661

coding sequence (CDS) position

761

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

799

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

CCCTGGCTTTGCACCAAGCAATGGACAGTTGAATTTCACAG

altered cDNA sequence snippet

CCCTGGCTTTGCACCAAGCAGTGGACAGTTGAATTTCACAG

wildtype AA sequence

MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCACKQ
GFLSSNGQNH FKDPGVRCKD IDECSQSPQP CGPNSSCKNL SGRYKCSCLD GFSSPTGNDW
VPGKPGNFSC TDINECLTSS VCPEHSDCVN SMGSYSCSCQ VGFISRNSTC EDVDECADPR
ACPEHATCNN TVGNYSCFCN PGFESSSGHL SFQGLKASCE DIDECTEMCP INSTCTNTPG
SYFCTCHPGF APSNGQLNFT DQGVECRDID ECRQDPSTCG PNSICTNALG SYSCGCIAGF
HPNPEGSQKD GNFSCQRVLF KCKEDVIPDN KQIQQCQEGT AVKPAYVSFC AQINNIFSVL
DKVCENKTTV VSLKNTTESF VPVLKQISTW TKFTKEETSS LATVFLESVE SMTLASFWKP
SANITPAVRT EYLDIESKVI NKECSEENVT LDLVAKGDKM KIGCSTIEES ESTETTGVAF
VSFVGMESVL NERFFKDHQA PLTTSEIKLK MNSRVVGGIM TGEKKDGFSD PIIYTLENIQ
PKQKFERPIC VSWSTDVKGG RWTSFGCVIL EASETYTICS CNQMANLAVI MASGELTMDF
SLYIISHVGI IISLVCLVLA IATFLLCRSI RNHNTYLHLH LCVCLLLAKT LFLAGIHKTD
NKMGCAIIAG FLHYLFLACF FWMLVEAVIL FLMVRNLKVV NYFSSRNIKM LHICAFGYGL
PMLVVVISAS VQPQGYGMHN RCWLNTETGF IWSFLGPVCT VIVINSLLLT WTLWILRQRL
SSVNAEVSTL KDTRLLTFKA FAQLFILGCS WVLGIFQIGP VAGVMAYLFT IINSLQGAFI
FLIHCLLNGQ VREEYKRWIT GKTKPSSQSQ TSRILLSSMP SASKTG*

mutated AA sequence

MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCACKQ
GFLSSNGQNH FKDPGVRCKD IDECSQSPQP CGPNSSCKNL SGRYKCSCLD GFSSPTGNDW
VPGKPGNFSC TDINECLTSS VCPEHSDCVN SMGSYSCSCQ VGFISRNSTC EDVDECADPR
ACPEHATCNN TVGNYSCFCN PGFESSSGHL SFQGLKASCE DIDECTEMCP INSTCTNTPG
SYFCTCHPGF APSSGQLNFT DQGVECRDID ECRQDPSTCG PNSICTNALG SYSCGCIAGF
HPNPEGSQKD GNFSCQRVLF KCKEDVIPDN KQIQQCQEGT AVKPAYVSFC AQINNIFSVL
DKVCENKTTV VSLKNTTESF VPVLKQISTW TKFTKEETSS LATVFLESVE SMTLASFWKP
SANITPAVRT EYLDIESKVI NKECSEENVT LDLVAKGDKM KIGCSTIEES ESTETTGVAF
VSFVGMESVL NERFFKDHQA PLTTSEIKLK MNSRVVGGIM TGEKKDGFSD PIIYTLENIQ
PKQKFERPIC VSWSTDVKGG RWTSFGCVIL EASETYTICS CNQMANLAVI MASGELTMDF
SLYIISHVGI IISLVCLVLA IATFLLCRSI RNHNTYLHLH LCVCLLLAKT LFLAGIHKTD
NKMGCAIIAG FLHYLFLACF FWMLVEAVIL FLMVRNLKVV NYFSSRNIKM LHICAFGYGL
PMLVVVISAS VQPQGYGMHN RCWLNTETGF IWSFLGPVCT VIVINSLLLT WTLWILRQRL
SSVNAEVSTL KDTRLLTFKA FAQLFILGCS WVLGIFQIGP VAGVMAYLFT IINSLQGAFI
FLIHCLLNGQ VREEYKRWIT GKTKPSSQSQ TSRILLSSMP SASKTG*

speed

0.56 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