MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000312053
Querying Taster for transcript #2: ENST00000381404
Querying Taster for transcript #3: ENST00000250572
Querying Taster for transcript #4: ENST00000381407
Querying Taster for transcript #5: ENST00000450315
MT speed 0 s - this script 4.401315 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ADGRE1	polymorphism_automatic	4.94616957946725e-07	simple_aae		affected		N254S	single base exchange	rs443658		show file
ADGRE1	polymorphism_automatic	4.94616957946725e-07	simple_aae		affected		N202S	single base exchange	rs443658		show file
ADGRE1	polymorphism_automatic	4.94616957946725e-07	simple_aae		affected		N254S	single base exchange	rs443658		show file
ADGRE1	polymorphism_automatic	4.94616957946725e-07	simple_aae		affected		N113S	single base exchange	rs443658		show file
ADGRE1	polymorphism_automatic	1.78964518700031e-05	without_aae		affected			single base exchange	rs443658		show file

Taster files

mutation t@sting

documentation

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

0.72 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
back to results table

mutation t@sting

documentation

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

ENST00000381404

Genbank transcript ID

NM_001256252

UniProt peptide

Q14246

alteration type

single base exchange

alteration region

CDS

DNA changes

c.605A>G
cDNA.635A>G
g.16339A>G

AA changes

N202S Score: 46 explain score(s)

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

202

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

202

mutated

all conserved

202

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
172	220	DOMAIN	EGF-like 4; calcium-binding (Potential).	lost
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2604 / 2604

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

868 / 868

position of stopcodon in wt / mu cDNA

2634 / 2634

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

31 / 31

chromosome

strand

last intron/exon boundary

2629

theoretical NMD boundary in CDS

2548

length of CDS

2604

coding sequence (CDS) position

605

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

635

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 INECLTSSVC PEHSDCVNSM GSYSCSCQVG FISRNSTCED
VDECADPRAC PEHATCNNTV GNYSCFCNPG FESSSGHLSF QGLKASCEDI DECTEMCPIN
STCTNTPGSY FCTCHPGFAP SNGQLNFTDQ GVECRDIDEC RQDPSTCGPN SICTNALGSY
SCGCIAGFHP NPEGSQKDGN FSCQRVLFKC KEDVIPDNKQ IQQCQEGTAV KPAYVSFCAQ
INNIFSVLDK VCENKTTVVS LKNTTESFVP VLKQISTWTK FTKEETSSLA TVFLESVESM
TLASFWKPSA NITPAVRTEY LDIESKVINK ECSEENVTLD LVAKGDKMKI GCSTIEESES
TETTGVAFVS FVGMESVLNE RFFKDHQAPL TTSEIKLKMN SRVVGGIMTG EKKDGFSDPI
IYTLENIQPK QKFERPICVS WSTDVKGGRW TSFGCVILEA SETYTICSCN QMANLAVIMA
SGELTMDFSL YIISHVGIII SLVCLVLAIA TFLLCRSIRN HNTYLHLHLC VCLLLAKTLF
LAGIHKTDNK MGCAIIAGFL HYLFLACFFW MLVEAVILFL MVRNLKVVNY FSSRNIKMLH
ICAFGYGLPM LVVVISASVQ PQGYGMHNRC WLNTETGFIW SFLGPVCTVI VVSKYYNSLA
KCVLKEEQGD LRDLEFPGTC AAERINSLLL TWTLWILRQR LSSVNAEVST LKDTRLLTFK
AFAQLFILGC SWVLGIFQIG PVAGVMAYLF TIINSLQGAF IFLIHCLLNG QVREEYKRWI
TGKTKPSSQS QTSRILLSSM PSASKTG*

mutated AA sequence

MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCACKQ
GFLSSNGQNH FKDPGVRCKD INECLTSSVC PEHSDCVNSM GSYSCSCQVG FISRNSTCED
VDECADPRAC PEHATCNNTV GNYSCFCNPG FESSSGHLSF QGLKASCEDI DECTEMCPIN
STCTNTPGSY FCTCHPGFAP SSGQLNFTDQ GVECRDIDEC RQDPSTCGPN SICTNALGSY
SCGCIAGFHP NPEGSQKDGN FSCQRVLFKC KEDVIPDNKQ IQQCQEGTAV KPAYVSFCAQ
INNIFSVLDK VCENKTTVVS LKNTTESFVP VLKQISTWTK FTKEETSSLA TVFLESVESM
TLASFWKPSA NITPAVRTEY LDIESKVINK ECSEENVTLD LVAKGDKMKI GCSTIEESES
TETTGVAFVS FVGMESVLNE RFFKDHQAPL TTSEIKLKMN SRVVGGIMTG EKKDGFSDPI
IYTLENIQPK QKFERPICVS WSTDVKGGRW TSFGCVILEA SETYTICSCN QMANLAVIMA
SGELTMDFSL YIISHVGIII SLVCLVLAIA TFLLCRSIRN HNTYLHLHLC VCLLLAKTLF
LAGIHKTDNK MGCAIIAGFL HYLFLACFFW MLVEAVILFL MVRNLKVVNY FSSRNIKMLH
ICAFGYGLPM LVVVISASVQ PQGYGMHNRC WLNTETGFIW SFLGPVCTVI VVSKYYNSLA
KCVLKEEQGD LRDLEFPGTC AAERINSLLL TWTLWILRQR LSSVNAEVST LKDTRLLTFK
AFAQLFILGC SWVLGIFQIG PVAGVMAYLF TIINSLQGAF IFLIHCLLNG QVREEYKRWI
TGKTKPSSQS QTSRILLSSM PSASKTG*

speed

0.70 s

mutation t@sting

documentation

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

ENST00000250572

Genbank transcript ID

NM_001256253

UniProt peptide

Q14246

alteration type

single base exchange

alteration region

CDS

DNA changes

c.761A>G
cDNA.791A>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

2466 / 2466

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

822 / 822

position of stopcodon in wt / mu cDNA

2496 / 2496

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

31 / 31

chromosome

strand

last intron/exon boundary

2491

theoretical NMD boundary in CDS

2410

length of CDS

2466

coding sequence (CDS) position

761

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

791

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 MASGELTMGC
AIIAGFLHYL FLACFFWMLV EAVILFLMVR NLKVVNYFSS RNIKMLHICA FGYGLPMLVV
VISASVQPQG YGMHNRCWLN TETGFIWSFL GPVCTVIVIN SLLLTWTLWI LRQRLSSVNA
EVSTLKDTRL LTFKAFAQLF ILGCSWVLGI FQIGPVAGVM AYLFTIINSL QGAFIFLIHC
LLNGQVREEY KRWITGKTKP SSQSQTSRIL LSSMPSASKT G*

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 MASGELTMGC
AIIAGFLHYL FLACFFWMLV EAVILFLMVR NLKVVNYFSS RNIKMLHICA FGYGLPMLVV
VISASVQPQG YGMHNRCWLN TETGFIWSFL GPVCTVIVIN SLLLTWTLWI LRQRLSSVNA
EVSTLKDTRL LTFKAFAQLF ILGCSWVLGI FQIGPVAGVM AYLFTIINSL QGAFIFLIHC
LLNGQVREEY KRWITGKTKP SSQSQTSRIL LSSMPSASKT G*

speed

0.68 s

mutation t@sting

documentation

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

ENST00000381407

Genbank transcript ID

NM_001256254

UniProt peptide

Q14246

alteration type

single base exchange

alteration region

CDS

DNA changes

c.338A>G
cDNA.359A>G
g.16339A>G

AA changes

N113S Score: 46 explain score(s)

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

113

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

113

mutated

all conserved

113

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
80	131	DOMAIN	EGF-like 2; calcium-binding (Potential).	lost
127	127	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
130	130	DISULFID	By similarity.	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)
136	136	DISULFID	By similarity.	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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2238 / 2238

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

746 / 746

position of stopcodon in wt / mu cDNA

2259 / 2259

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

2254

theoretical NMD boundary in CDS

2182

length of CDS

2238

coding sequence (CDS) position

338

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

359

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 IDECTEMCPI NSTCTNTPGS YFCTCHPGFA PSNGQLNFTD
QGVECRDIDE CRQDPSTCGP NSICTNALGS YSCGCIAGFH PNPEGSQKDG NFSCQRVLFK
CKEDVIPDNK QIQQCQEGTA VKPAYVSFCA QINNIFSVLD KVCENKTTVV SLKNTTESFV
PVLKQISTWT KFTKEETSSL ATVFLESVES MTLASFWKPS ANITPAVRTE YLDIESKVIN
KECSEENVTL DLVAKGDKMK IGCSTIEESE STETTGVAFV SFVGMESVLN ERFFKDHQAP
LTTSEIKLKM NSRVVGGIMT GEKKDGFSDP IIYTLENIQP KQKFERPICV SWSTDVKGGR
WTSFGCVILE ASETYTICSC NQMANLAVIM ASGELTMDFS LYIISHVGII ISLVCLVLAI
ATFLLCRSIR NHNTYLHLHL CVCLLLAKTL FLAGIHKTDN KMGCAIIAGF LHYLFLACFF
WMLVEAVILF LMVRNLKVVN YFSSRNIKML HICAFGYGLP MLVVVISASV QPQGYGMHNR
CWLNTETGFI WSFLGPVCTV IVINSLLLTW TLWILRQRLS SVNAEVSTLK DTRLLTFKAF
AQLFILGCSW VLGIFQIGPV AGVMAYLFTI INSLQGAFIF LIHCLLNGQV REEYKRWITG
KTKPSSQSQT SRILLSSMPS ASKTG*

mutated AA sequence

MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCACKQ
GFLSSNGQNH FKDPGVRCKD IDECTEMCPI NSTCTNTPGS YFCTCHPGFA PSSGQLNFTD
QGVECRDIDE CRQDPSTCGP NSICTNALGS YSCGCIAGFH PNPEGSQKDG NFSCQRVLFK
CKEDVIPDNK QIQQCQEGTA VKPAYVSFCA QINNIFSVLD KVCENKTTVV SLKNTTESFV
PVLKQISTWT KFTKEETSSL ATVFLESVES MTLASFWKPS ANITPAVRTE YLDIESKVIN
KECSEENVTL DLVAKGDKMK IGCSTIEESE STETTGVAFV SFVGMESVLN ERFFKDHQAP
LTTSEIKLKM NSRVVGGIMT GEKKDGFSDP IIYTLENIQP KQKFERPICV SWSTDVKGGR
WTSFGCVILE ASETYTICSC NQMANLAVIM ASGELTMDFS LYIISHVGII ISLVCLVLAI
ATFLLCRSIR NHNTYLHLHL CVCLLLAKTL FLAGIHKTDN KMGCAIIAGF LHYLFLACFF
WMLVEAVILF LMVRNLKVVN YFSSRNIKML HICAFGYGLP MLVVVISASV QPQGYGMHNR
CWLNTETGFI WSFLGPVCTV IVINSLLLTW TLWILRQRLS SVNAEVSTLK DTRLLTFKAF
AQLFILGCSW VLGIFQIGPV AGVMAYLFTI INSLQGAFIF LIHCLLNGQV REEYKRWITG
KTKPSSQSQT SRILLSSMPS ASKTG*

speed

0.90 s

mutation t@sting

documentation

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

0.54 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems