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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000315576
Querying Taster for transcript #2: ENST00000392967
Querying Taster for transcript #3: ENST00000346057
Querying Taster for transcript #4: ENST00000353876
Querying Taster for transcript #5: ENST00000353005
Querying Taster for transcript #6: ENST00000392965
Querying Taster for transcript #7: ENST00000392962
Querying Taster for transcript #8: ENST00000392964
Querying Taster for transcript #9: ENST00000360222
MT speed 0 s - this script 6.145775 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ADGRE2	polymorphism_automatic	1.27797772364602e-12	simple_aae				A314V	single base exchange	rs35612307		show file
ADGRE2	polymorphism_automatic	1.27797772364602e-12	simple_aae				A314V	single base exchange	rs35612307		show file
ADGRE2	polymorphism_automatic	1.27797772364602e-12	simple_aae				A265V	single base exchange	rs35612307		show file
ADGRE2	polymorphism_automatic	1.27797772364602e-12	simple_aae				A265V	single base exchange	rs35612307		show file
ADGRE2	polymorphism_automatic	1.27797772364602e-12	simple_aae				A314V	single base exchange	rs35612307		show file
ADGRE2	polymorphism_automatic	2.12196926696606e-12	simple_aae				A221V	single base exchange	rs35612307		show file
ADGRE2	polymorphism_automatic	2.12196926696606e-12	simple_aae				A172V	single base exchange	rs35612307		show file
ADGRE2	polymorphism_automatic	2.12196926696606e-12	simple_aae				A53V	single base exchange	rs35612307		show file
ADGRE2	polymorphism_automatic	8.19232750526311e-08	without_aae					single base exchange	rs35612307		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998722 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:14875388G>AN/A show variant in all transcripts IGV

HGNC symbol

ADGRE2

Ensembl transcript ID

ENST00000315576

Genbank transcript ID

N/A

UniProt peptide

Q9UHX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941C>T
cDNA.1397C>T
g.13966C>T

AA changes

A314V Score: 64 explain score(s)

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

314

frameshift

known variant

Reference ID: rs35612307

database	homozygous (A/A)	heterozygous	allele carriers
1000G	128	695	823
ExAC	4686	22206	26892

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.211	0
	-0.387	0
(flanking)	-1.778	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

all identical

ENSPTRG00000010601

286

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

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
24	540	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2472 / 2472

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

824 / 824

position of stopcodon in wt / mu cDNA

2928 / 2928

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

457 / 457

chromosome

strand

-1

last intron/exon boundary

2920

theoretical NMD boundary in CDS

2413

length of CDS

2472

coding sequence (CDS) position

941

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

1397

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

13966

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

14875388

original gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

original cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

wildtype AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVNECTSG QNPCHSSTHC
LNNVGSYQCR CRPGWQPIPG SPNGPNNTVC EDVDECSSGQ HQCDSSTVCF NTVGSYSCRC
RPGWKPRHGI PNNQKDTVCE DMTFSTWTPP PGVHSQTLSR FFDKVQDLGR DYKPGLANNT
IQSILQALDE LLEAPGDLET LPRLQQHCVA SHLLDGLEDV LRGLSKNLSN GLLNFSYPAG
TELSLEVQKQ VDRSVTLRQN QAVMQLDWNQ AQKSGDPGPS VVGLVSIPGM GKLLAEAPLV
LEPEKQMLLH ETHQGLLQDG SPILLSDVIS AFLSNNDTQN LSSPVTFTFS HRSVIPRQKV
LCVFWEHGQN GCGHWATTGC STIGTRDTST ICRCTHLSSF AVLMAHYDVQ EEDPVLTVIT
YMGLSVSLLC LLLAALTFLL CKAIQNTSTS LHLQLSLCLF LAHLLFLVAI DQTGHKVLCS
IIAGTLHYLY LATLTWMLLE ALYLFLTARN LTVVNYSSIN RFMKKLMFPV GYGVPAVTVA
ISAASRPHLY GTPSRCWLQP EKGFIWGFLG PVCAIFSVNL VLFLVTLWIL KNRLSSLNSE
VSTLRNTRML AFKATAQLFI LGCTWCLGIL QVGPAARVMA YLFTIINSLQ GVFIFLVYCL
LSQQVREQYG KWSKGIRKLK TESEMHTLSS SAKADTSKPS TVN*

mutated AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVNECTSG QNPCHSSTHC
LNNVGSYQCR CRPGWQPIPG SPNGPNNTVC EDVDECSSGQ HQCDSSTVCF NTVGSYSCRC
RPGWKPRHGI PNNQKDTVCE DMTFSTWTPP PGVHSQTLSR FFDKVQDLGR DYKPGLANNT
IQSILQALDE LLEVPGDLET LPRLQQHCVA SHLLDGLEDV LRGLSKNLSN GLLNFSYPAG
TELSLEVQKQ VDRSVTLRQN QAVMQLDWNQ AQKSGDPGPS VVGLVSIPGM GKLLAEAPLV
LEPEKQMLLH ETHQGLLQDG SPILLSDVIS AFLSNNDTQN LSSPVTFTFS HRSVIPRQKV
LCVFWEHGQN GCGHWATTGC STIGTRDTST ICRCTHLSSF AVLMAHYDVQ EEDPVLTVIT
YMGLSVSLLC LLLAALTFLL CKAIQNTSTS LHLQLSLCLF LAHLLFLVAI DQTGHKVLCS
IIAGTLHYLY LATLTWMLLE ALYLFLTARN LTVVNYSSIN RFMKKLMFPV GYGVPAVTVA
ISAASRPHLY GTPSRCWLQP EKGFIWGFLG PVCAIFSVNL VLFLVTLWIL KNRLSSLNSE
VSTLRNTRML AFKATAQLFI LGCTWCLGIL QVGPAARVMA YLFTIINSLQ GVFIFLVYCL
LSQQVREQYG KWSKGIRKLK TESEMHTLSS SAKADTSKPS TVN*

speed

0.76 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: 0.999999999998722 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:14875388G>AN/A show variant in all transcripts IGV

HGNC symbol

ADGRE2

Ensembl transcript ID

ENST00000392967

Genbank transcript ID

N/A

UniProt peptide

Q9UHX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941C>T
cDNA.1397C>T
g.13966C>T

AA changes

A314V Score: 64 explain score(s)

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

314

frameshift

known variant

Reference ID: rs35612307

database	homozygous (A/A)	heterozygous	allele carriers
1000G	128	695	823
ExAC	4686	22206	26892

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.211	0
	-0.387	0
(flanking)	-1.778	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

all identical

ENSPTRG00000010601

286

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

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
24	540	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2439 / 2439

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

813 / 813

position of stopcodon in wt / mu cDNA

2895 / 2895

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

457 / 457

chromosome

strand

-1

last intron/exon boundary

2887

theoretical NMD boundary in CDS

2380

length of CDS

2439

coding sequence (CDS) position

941

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

1397

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

13966

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

14875388

original gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

original cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

wildtype AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVNECTSG QNPCHSSTHC
LNNVGSYQCR CRPGWQPIPG SPNGPNNTVC EDVDECSSGQ HQCDSSTVCF NTVGSYSCRC
RPGWKPRHGI PNNQKDTVCE DMTFSTWTPP PGVHSQTLSR FFDKVQDLGR DYKPGLANNT
IQSILQALDE LLEAPGDLET LPRLQQHCVA SHLLDGLEDV LRGLSKNLSN GLLNFSYPAG
TELSLEVQKQ VDRSVTLRQN QAVMQLDWNQ AQKSGDPGMG KLLAEAPLVL EPEKQMLLHE
THQGLLQDGS PILLSDVISA FLSNNDTQNL SSPVTFTFSH RSVIPRQKVL CVFWEHGQNG
CGHWATTGCS TIGTRDTSTI CRCTHLSSFA VLMAHYDVQE EDPVLTVITY MGLSVSLLCL
LLAALTFLLC KAIQNTSTSL HLQLSLCLFL AHLLFLVAID QTGHKVLCSI IAGTLHYLYL
ATLTWMLLEA LYLFLTARNL TVVNYSSINR FMKKLMFPVG YGVPAVTVAI SAASRPHLYG
TPSRCWLQPE KGFIWGFLGP VCAIFSVNLV LFLVTLWILK NRLSSLNSEV STLRNTRMLA
FKATAQLFIL GCTWCLGILQ VGPAARVMAY LFTIINSLQG VFIFLVYCLL SQQVREQYGK
WSKGIRKLKT ESEMHTLSSS AKADTSKPST VN*

mutated AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVNECTSG QNPCHSSTHC
LNNVGSYQCR CRPGWQPIPG SPNGPNNTVC EDVDECSSGQ HQCDSSTVCF NTVGSYSCRC
RPGWKPRHGI PNNQKDTVCE DMTFSTWTPP PGVHSQTLSR FFDKVQDLGR DYKPGLANNT
IQSILQALDE LLEVPGDLET LPRLQQHCVA SHLLDGLEDV LRGLSKNLSN GLLNFSYPAG
TELSLEVQKQ VDRSVTLRQN QAVMQLDWNQ AQKSGDPGMG KLLAEAPLVL EPEKQMLLHE
THQGLLQDGS PILLSDVISA FLSNNDTQNL SSPVTFTFSH RSVIPRQKVL CVFWEHGQNG
CGHWATTGCS TIGTRDTSTI CRCTHLSSFA VLMAHYDVQE EDPVLTVITY MGLSVSLLCL
LLAALTFLLC KAIQNTSTSL HLQLSLCLFL AHLLFLVAID QTGHKVLCSI IAGTLHYLYL
ATLTWMLLEA LYLFLTARNL TVVNYSSINR FMKKLMFPVG YGVPAVTVAI SAASRPHLYG
TPSRCWLQPE KGFIWGFLGP VCAIFSVNLV LFLVTLWILK NRLSSLNSEV STLRNTRMLA
FKATAQLFIL GCTWCLGILQ VGPAARVMAY LFTIINSLQG VFIFLVYCLL SQQVREQYGK
WSKGIRKLKT ESEMHTLSSS AKADTSKPST VN*

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998722 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:14875388G>AN/A show variant in all transcripts IGV

HGNC symbol

ADGRE2

Ensembl transcript ID

ENST00000346057

Genbank transcript ID

N/A

UniProt peptide

Q9UHX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.794C>T
cDNA.1250C>T
g.13966C>T

AA changes

A265V Score: 64 explain score(s)

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

265

frameshift

known variant

Reference ID: rs35612307

database	homozygous (A/A)	heterozygous	allele carriers
1000G	128	695	823
ExAC	4686	22206	26892

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.211	0
	-0.387	0
(flanking)	-1.778	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

265

mutated

not conserved

265

Ptroglodytes

all identical

ENSPTRG00000010601

285

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

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
24	540	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2325 / 2325

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

775 / 775

position of stopcodon in wt / mu cDNA

2781 / 2781

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

457 / 457

chromosome

strand

-1

last intron/exon boundary

2773

theoretical NMD boundary in CDS

2266

length of CDS

2325

coding sequence (CDS) position

794

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

1250

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

13966

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

14875388

original gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

original cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

wildtype AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVDECSSG QHQCDSSTVC
FNTVGSYSCR CRPGWKPRHG IPNNQKDTVC EDMTFSTWTP PPGVHSQTLS RFFDKVQDLG
RDYKPGLANN TIQSILQALD ELLEAPGDLE TLPRLQQHCV ASHLLDGLED VLRGLSKNLS
NGLLNFSYPA GTELSLEVQK QVDRSVTLRQ NQAVMQLDWN QAQKSGDPGP SVVGLVSIPG
MGKLLAEAPL VLEPEKQMLL HETHQGLLQD GSPILLSDVI SAFLSNNDTQ NLSSPVTFTF
SHRSVIPRQK VLCVFWEHGQ NGCGHWATTG CSTIGTRDTS TICRCTHLSS FAVLMAHYDV
QEEDPVLTVI TYMGLSVSLL CLLLAALTFL LCKAIQNTST SLHLQLSLCL FLAHLLFLVA
IDQTGHKVLC SIIAGTLHYL YLATLTWMLL EALYLFLTAR NLTVVNYSSI NRFMKKLMFP
VGYGVPAVTV AISAASRPHL YGTPSRCWLQ PEKGFIWGFL GPVCAIFSVN LVLFLVTLWI
LKNRLSSLNS EVSTLRNTRM LAFKATAQLF ILGCTWCLGI LQVGPAARVM AYLFTIINSL
QGVFIFLVYC LLSQQVREQY GKWSKGIRKL KTESEMHTLS SSAKADTSKP STVN*

mutated AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVDECSSG QHQCDSSTVC
FNTVGSYSCR CRPGWKPRHG IPNNQKDTVC EDMTFSTWTP PPGVHSQTLS RFFDKVQDLG
RDYKPGLANN TIQSILQALD ELLEVPGDLE TLPRLQQHCV ASHLLDGLED VLRGLSKNLS
NGLLNFSYPA GTELSLEVQK QVDRSVTLRQ NQAVMQLDWN QAQKSGDPGP SVVGLVSIPG
MGKLLAEAPL VLEPEKQMLL HETHQGLLQD GSPILLSDVI SAFLSNNDTQ NLSSPVTFTF
SHRSVIPRQK VLCVFWEHGQ NGCGHWATTG CSTIGTRDTS TICRCTHLSS FAVLMAHYDV
QEEDPVLTVI TYMGLSVSLL CLLLAALTFL LCKAIQNTST SLHLQLSLCL FLAHLLFLVA
IDQTGHKVLC SIIAGTLHYL YLATLTWMLL EALYLFLTAR NLTVVNYSSI NRFMKKLMFP
VGYGVPAVTV AISAASRPHL YGTPSRCWLQ PEKGFIWGFL GPVCAIFSVN LVLFLVTLWI
LKNRLSSLNS EVSTLRNTRM LAFKATAQLF ILGCTWCLGI LQVGPAARVM AYLFTIINSL
QGVFIFLVYC LLSQQVREQY GKWSKGIRKL KTESEMHTLS SSAKADTSKP STVN*

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998722 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:14875388G>AN/A show variant in all transcripts IGV

HGNC symbol

ADGRE2

Ensembl transcript ID

ENST00000392962

Genbank transcript ID

N/A

UniProt peptide

Q9UHX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.794C>T
cDNA.879C>T
g.13966C>T

AA changes

A265V Score: 64 explain score(s)

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

265

frameshift

known variant

Reference ID: rs35612307

database	homozygous (A/A)	heterozygous	allele carriers
1000G	128	695	823
ExAC	4686	22206	26892

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.211	0
	-0.387	0
(flanking)	-1.778	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

265

mutated

not conserved

265

Ptroglodytes

all identical

ENSPTRG00000010601

285

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

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
24	540	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1140 / 1140

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

380 / 380

position of stopcodon in wt / mu cDNA

1225 / 1225

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

86 / 86

chromosome

strand

-1

last intron/exon boundary

1329

theoretical NMD boundary in CDS

1193

length of CDS

1140

coding sequence (CDS) position

794

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

879

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

13966

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

14875388

original gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

original cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

wildtype AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVDECSSG QHQCDSSTVC
FNTVGSYSCR CRPGWKPRHG IPNNQKDTVC EDMTFSTWTP PPGVHSQTLS RFFDKVQDLG
RDYKPGLANN TIQSILQALD ELLEAPGDLE TLPRLQQHCV ASHLLDGLED VLRGLSKNLS
NGLLNFSYPA GTELSLEVQK QVDRSVTLRQ NQAVMQLDWN QAQKSGDPGG GSRADCHHLH
GAERLSAVPP PGGPHFSPV*

mutated AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVDECSSG QHQCDSSTVC
FNTVGSYSCR CRPGWKPRHG IPNNQKDTVC EDMTFSTWTP PPGVHSQTLS RFFDKVQDLG
RDYKPGLANN TIQSILQALD ELLEVPGDLE TLPRLQQHCV ASHLLDGLED VLRGLSKNLS
NGLLNFSYPA GTELSLEVQK QVDRSVTLRQ NQAVMQLDWN QAQKSGDPGG GSRADCHHLH
GAERLSAVPP PGGPHFSPV*

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998722 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:14875388G>AN/A show variant in all transcripts IGV

HGNC symbol

ADGRE2

Ensembl transcript ID

ENST00000392965

Genbank transcript ID

N/A

UniProt peptide

Q9UHX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941C>T
cDNA.1027C>T
g.13966C>T

AA changes

A314V Score: 64 explain score(s)

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

314

frameshift

known variant

Reference ID: rs35612307

database	homozygous (A/A)	heterozygous	allele carriers
1000G	128	695	823
ExAC	4686	22206	26892

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.211	0
	-0.387	0
(flanking)	-1.778	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

all identical

ENSPTRG00000010601

286

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

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
24	540	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2298 / 2298

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

766 / 766

position of stopcodon in wt / mu cDNA

2384 / 2384

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

87 / 87

chromosome

strand

-1

last intron/exon boundary

2376

theoretical NMD boundary in CDS

2239

length of CDS

2298

coding sequence (CDS) position

941

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

1027

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

13966

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

14875388

original gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

original cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

wildtype AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVNECTSG QNPCHSSTHC
LNNVGSYQCR CRPGWQPIPG SPNGPNNTVC EDVDECSSGQ HQCDSSTVCF NTVGSYSCRC
RPGWKPRHGI PNNQKDTVCE DMTFSTWTPP PGVHSQTLSR FFDKVQDLGR DYKPGLANNT
IQSILQALDE LLEAPGDLET LPRLQQHCVA SHLLDGLEDV LRGLSKNLSN GLLNFSYPAG
TELSLEVQKQ VDRSVTLRQN QAVMQLDWNQ AQKSGDPGPS VVGLVSIPGM GKLLAEAPLV
LEPEKQMLLH ETHQGLLQDG SPILLSDVIS AFLSNNDTQN LSSPVTFTFS HREEDPVLTV
ITYMGLSVSL LCLLLAALTF LLCKAIQNTS TSLHLQLSLC LFLAHLLFLV AIDQTGHKVL
CSIIAGTLHY LYLATLTWML LEALYLFLTA RNLTVVNYSS INRFMKKLMF PVGYGVPAVT
VAISAASRPH LYGTPSRCWL QPEKGFIWGF LGPVCAIFSV NLVLFLVTLW ILKNRLSSLN
SEVSTLRNTR MLAFKATAQL FILGCTWCLG ILQVGPAARV MAYLFTIINS LQGVFIFLVY
CLLSQQVREQ YGKWSKGIRK LKTESEMHTL SSSAKADTSK PSTVN*

mutated AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVNECTSG QNPCHSSTHC
LNNVGSYQCR CRPGWQPIPG SPNGPNNTVC EDVDECSSGQ HQCDSSTVCF NTVGSYSCRC
RPGWKPRHGI PNNQKDTVCE DMTFSTWTPP PGVHSQTLSR FFDKVQDLGR DYKPGLANNT
IQSILQALDE LLEVPGDLET LPRLQQHCVA SHLLDGLEDV LRGLSKNLSN GLLNFSYPAG
TELSLEVQKQ VDRSVTLRQN QAVMQLDWNQ AQKSGDPGPS VVGLVSIPGM GKLLAEAPLV
LEPEKQMLLH ETHQGLLQDG SPILLSDVIS AFLSNNDTQN LSSPVTFTFS HREEDPVLTV
ITYMGLSVSL LCLLLAALTF LLCKAIQNTS TSLHLQLSLC LFLAHLLFLV AIDQTGHKVL
CSIIAGTLHY LYLATLTWML LEALYLFLTA RNLTVVNYSS INRFMKKLMF PVGYGVPAVT
VAISAASRPH LYGTPSRCWL QPEKGFIWGF LGPVCAIFSV NLVLFLVTLW ILKNRLSSLN
SEVSTLRNTR MLAFKATAQL FILGCTWCLG ILQVGPAARV MAYLFTIINS LQGVFIFLVY
CLLSQQVREQ YGKWSKGIRK LKTESEMHTL SSSAKADTSK PSTVN*

speed

0.86 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997878 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:14875388G>AN/A show variant in all transcripts IGV

HGNC symbol

ADGRE2

Ensembl transcript ID

ENST00000353876

Genbank transcript ID

N/A

UniProt peptide

Q9UHX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.662C>T
cDNA.1118C>T
g.13966C>T

AA changes

A221V Score: 64 explain score(s)

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

221

frameshift

known variant

Reference ID: rs35612307

database	homozygous (A/A)	heterozygous	allele carriers
1000G	128	695	823
ExAC	4686	22206	26892

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.211	0
	-0.387	0
(flanking)	-1.778	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

221

mutated

not conserved

221

Ptroglodytes

all identical

ENSPTRG00000010601

285

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

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
24	540	TOPO_DOM	Extracellular (Potential).	lost
212	260	DOMAIN	EGF-like 5; calcium-binding (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2193 / 2193

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

731 / 731

position of stopcodon in wt / mu cDNA

2649 / 2649

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

457 / 457

chromosome

strand

-1

last intron/exon boundary

2641

theoretical NMD boundary in CDS

2134

length of CDS

2193

coding sequence (CDS) position

662

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

1118

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

13966

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

14875388

original gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

original cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

wildtype AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECSSGQHQC DSSTVCFNTV GSYSCRCRPG WKPRHGIPNN QKDTVCEDMT FSTWTPPPGV
HSQTLSRFFD KVQDLGRDYK PGLANNTIQS ILQALDELLE APGDLETLPR LQQHCVASHL
LDGLEDVLRG LSKNLSNGLL NFSYPAGTEL SLEVQKQVDR SVTLRQNQAV MQLDWNQAQK
SGDPGPSVVG LVSIPGMGKL LAEAPLVLEP EKQMLLHETH QGLLQDGSPI LLSDVISAFL
SNNDTQNLSS PVTFTFSHRS VIPRQKVLCV FWEHGQNGCG HWATTGCSTI GTRDTSTICR
CTHLSSFAVL MAHYDVQEED PVLTVITYMG LSVSLLCLLL AALTFLLCKA IQNTSTSLHL
QLSLCLFLAH LLFLVAIDQT GHKVLCSIIA GTLHYLYLAT LTWMLLEALY LFLTARNLTV
VNYSSINRFM KKLMFPVGYG VPAVTVAISA ASRPHLYGTP SRCWLQPEKG FIWGFLGPVC
AIFSVNLVLF LVTLWILKNR LSSLNSEVST LRNTRMLAFK ATAQLFILGC TWCLGILQVG
PAARVMAYLF TIINSLQGVF IFLVYCLLSQ QVREQYGKWS KGIRKLKTES EMHTLSSSAK
ADTSKPSTVN *

mutated AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECSSGQHQC DSSTVCFNTV GSYSCRCRPG WKPRHGIPNN QKDTVCEDMT FSTWTPPPGV
HSQTLSRFFD KVQDLGRDYK PGLANNTIQS ILQALDELLE VPGDLETLPR LQQHCVASHL
LDGLEDVLRG LSKNLSNGLL NFSYPAGTEL SLEVQKQVDR SVTLRQNQAV MQLDWNQAQK
SGDPGPSVVG LVSIPGMGKL LAEAPLVLEP EKQMLLHETH QGLLQDGSPI LLSDVISAFL
SNNDTQNLSS PVTFTFSHRS VIPRQKVLCV FWEHGQNGCG HWATTGCSTI GTRDTSTICR
CTHLSSFAVL MAHYDVQEED PVLTVITYMG LSVSLLCLLL AALTFLLCKA IQNTSTSLHL
QLSLCLFLAH LLFLVAIDQT GHKVLCSIIA GTLHYLYLAT LTWMLLEALY LFLTARNLTV
VNYSSINRFM KKLMFPVGYG VPAVTVAISA ASRPHLYGTP SRCWLQPEKG FIWGFLGPVC
AIFSVNLVLF LVTLWILKNR LSSLNSEVST LRNTRMLAFK ATAQLFILGC TWCLGILQVG
PAARVMAYLF TIINSLQGVF IFLVYCLLSQ QVREQYGKWS KGIRKLKTES EMHTLSSSAK
ADTSKPSTVN *

speed

0.77 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997878 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:14875388G>AN/A show variant in all transcripts IGV

HGNC symbol

ADGRE2

Ensembl transcript ID

ENST00000353005

Genbank transcript ID

N/A

UniProt peptide

Q9UHX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.515C>T
cDNA.971C>T
g.13966C>T

AA changes

A172V Score: 64 explain score(s)

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

172

frameshift

known variant

Reference ID: rs35612307

database	homozygous (A/A)	heterozygous	allele carriers
1000G	128	695	823
ExAC	4686	22206	26892

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.211	0
	-0.387	0
(flanking)	-1.778	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

172

mutated

not conserved

172

Ptroglodytes

all identical

ENSPTRG00000010601

285

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

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
24	540	TOPO_DOM	Extracellular (Potential).	lost
163	211	DOMAIN	EGF-like 4; calcium-binding (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2046 / 2046

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

682 / 682

position of stopcodon in wt / mu cDNA

2502 / 2502

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

457 / 457

chromosome

strand

-1

last intron/exon boundary

2494

theoretical NMD boundary in CDS

1987

length of CDS

2046

coding sequence (CDS) position

515

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

971

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

13966

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

14875388

original gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

original cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

wildtype AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDM
TFSTWTPPPG VHSQTLSRFF DKVQDLGRDY KPGLANNTIQ SILQALDELL EAPGDLETLP
RLQQHCVASH LLDGLEDVLR GLSKNLSNGL LNFSYPAGTE LSLEVQKQVD RSVTLRQNQA
VMQLDWNQAQ KSGDPGPSVV GLVSIPGMGK LLAEAPLVLE PEKQMLLHET HQGLLQDGSP
ILLSDVISAF LSNNDTQNLS SPVTFTFSHR SVIPRQKVLC VFWEHGQNGC GHWATTGCST
IGTRDTSTIC RCTHLSSFAV LMAHYDVQEE DPVLTVITYM GLSVSLLCLL LAALTFLLCK
AIQNTSTSLH LQLSLCLFLA HLLFLVAIDQ TGHKVLCSII AGTLHYLYLA TLTWMLLEAL
YLFLTARNLT VVNYSSINRF MKKLMFPVGY GVPAVTVAIS AASRPHLYGT PSRCWLQPEK
GFIWGFLGPV CAIFSVNLVL FLVTLWILKN RLSSLNSEVS TLRNTRMLAF KATAQLFILG
CTWCLGILQV GPAARVMAYL FTIINSLQGV FIFLVYCLLS QQVREQYGKW SKGIRKLKTE
SEMHTLSSSA KADTSKPSTV N*

mutated AA sequence

MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDM
TFSTWTPPPG VHSQTLSRFF DKVQDLGRDY KPGLANNTIQ SILQALDELL EVPGDLETLP
RLQQHCVASH LLDGLEDVLR GLSKNLSNGL LNFSYPAGTE LSLEVQKQVD RSVTLRQNQA
VMQLDWNQAQ KSGDPGPSVV GLVSIPGMGK LLAEAPLVLE PEKQMLLHET HQGLLQDGSP
ILLSDVISAF LSNNDTQNLS SPVTFTFSHR SVIPRQKVLC VFWEHGQNGC GHWATTGCST
IGTRDTSTIC RCTHLSSFAV LMAHYDVQEE DPVLTVITYM GLSVSLLCLL LAALTFLLCK
AIQNTSTSLH LQLSLCLFLA HLLFLVAIDQ TGHKVLCSII AGTLHYLYLA TLTWMLLEAL
YLFLTARNLT VVNYSSINRF MKKLMFPVGY GVPAVTVAIS AASRPHLYGT PSRCWLQPEK
GFIWGFLGPV CAIFSVNLVL FLVTLWILKN RLSSLNSEVS TLRNTRMLAF KATAQLFILG
CTWCLGILQV GPAARVMAYL FTIINSLQGV FIFLVYCLLS QQVREQYGKW SKGIRKLKTE
SEMHTLSSSA KADTSKPSTV N*

speed

0.66 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997878 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:14875388G>AN/A show variant in all transcripts IGV

HGNC symbol

ADGRE2

Ensembl transcript ID

ENST00000392964

Genbank transcript ID

N/A

UniProt peptide

Q9UHX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.158C>T
cDNA.472C>T
g.13966C>T

AA changes

A53V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs35612307

database	homozygous (A/A)	heterozygous	allele carriers
1000G	128	695	823
ExAC	4686	22206	26892

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.211	0
	-0.387	0
(flanking)	-1.778	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000010601

288

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

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
24	540	TOPO_DOM	Extracellular (Potential).	lost
25	66	DOMAIN	EGF-like 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

678 / 678

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

226 / 226

position of stopcodon in wt / mu cDNA

992 / 992

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

315 / 315

chromosome

strand

-1

last intron/exon boundary

1491

theoretical NMD boundary in CDS

1126

length of CDS

678

coding sequence (CDS) position

158

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

472

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

13966

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

14875388

original gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

original cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

wildtype AA sequence

MTFSTWTPPP GVHSQTLSRF FDKVQDLGRD YKPGLANNTI QSILQALDEL LEAPGDLETL
PRLQQHCVAS HLLDGLEDVL RGLSKNLSNG LLNFSYPAGT ELSLEVQKQV DRSVTLRQNQ
AVMQLDWNQA QKSGDPVSDP ETEGALCLLG AWPEWMWSLG HHRLQHNRHQ RHQHHLPLHP
PEQLCRPHGP LRCAGGGSRA DCHHLHGAER LSAVPPPGGP HFSPV*

mutated AA sequence

MTFSTWTPPP GVHSQTLSRF FDKVQDLGRD YKPGLANNTI QSILQALDEL LEVPGDLETL
PRLQQHCVAS HLLDGLEDVL RGLSKNLSNG LLNFSYPAGT ELSLEVQKQV DRSVTLRQNQ
AVMQLDWNQA QKSGDPVSDP ETEGALCLLG AWPEWMWSLG HHRLQHNRHQ RHQHHLPLHP
PEQLCRPHGP LRCAGGGSRA DCHHLHGAER LSAVPPPGGP HFSPV*

speed

0.84 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999918076725 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:14875388G>AN/A show variant in all transcripts IGV

HGNC symbol

ADGRE2

Ensembl transcript ID

ENST00000360222

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1825C>T
g.13966C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs35612307

database	homozygous (A/A)	heterozygous	allele carriers
1000G	128	695	823
ExAC	4686	22206	26892

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.211	0
	-0.387	0
(flanking)	-1.778	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

455 / 455

chromosome

strand

-1

last intron/exon boundary

2660

theoretical NMD boundary in CDS

2155

length of CDS

720

coding sequence (CDS) position

N/A

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

1825

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

13966

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

14875388

original gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered gDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

original cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC

altered cDNA sequence snippet

GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC

wildtype AA sequence

mutated AA sequence

N/A

speed

0.80 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems