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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000468270
Querying Taster for transcript #2: ENST00000414363
Querying Taster for transcript #3: ENST00000374995
Querying Taster for transcript #4: ENST00000374993
Querying Taster for transcript #5: ENST00000540315
Querying Taster for transcript #6: ENST00000544175
Querying Taster for transcript #7: ENST00000429232
MT speed 0 s - this script 6.813517 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BTNL2	polymorphism_automatic	0.00432106641906105	simple_aae		affected		S360G	single base exchange	rs2076530		show file
BTNL2	polymorphism_automatic	0.00432106641906105	simple_aae		affected		S360G	single base exchange	rs2076530		show file
BTNL2	polymorphism_automatic	0.00715513156641001	simple_aae		affected		S150G	single base exchange	rs2076530		show file
BTNL2	polymorphism_automatic	0.00715513156641001	simple_aae		affected		S266G	single base exchange	rs2076530		show file
BTNL2	polymorphism_automatic	0.00715513156641001	simple_aae		affected		S150G	single base exchange	rs2076530		show file
BTNL2	polymorphism_automatic	0.00715513156641001	simple_aae		affected		S83G	single base exchange	rs2076530		show file
BTNL2	polymorphism_automatic	0.999999999999841	without_aae		affected			single base exchange	rs2076530		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.995678933580939 (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)

chr6:32363816T>CN/A show variant in all transcripts IGV

HGNC symbol

BTNL2

Ensembl transcript ID

ENST00000468270

Genbank transcript ID

N/A

UniProt peptide

Q9UIR0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1078A>G
cDNA.1358A>G
g.15696A>G

AA changes

S360G Score: 56 explain score(s)

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

360

frameshift

known variant

Reference ID: rs2076530

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1104	1521
ExAC	10351	12065	22416

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.573	1
	0.754	0.986
(flanking)	0.452	0.959

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	15696	sequence motif lost	-	wt: GTAA\|gtaa mu: GTAG.gtaa
Donor lost	15696	0.76	wt: TGGTAAGTAAGAATT	GTAA\|gtaa
Donor gained	15695	0.98	mu: GTGGTAGGTAAGAAT	GGTA\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

360

mutated

not conserved

360

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000024340

360

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	455	TOPO_DOM	Extracellular (Potential).	lost
427	427	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1449 / 1449

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

483 / 483

position of stopcodon in wt / mu cDNA

1729 / 1729

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

281 / 281

chromosome

strand

-1

last intron/exon boundary

1736

theoretical NMD boundary in CDS

1405

length of CDS

1449

coding sequence (CDS) position

1078

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

1358

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

15696

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

32363816

original gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTAAGAATTCTAGATAGATA

altered gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTAAGAATTCTAGATAGATA

original cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTCTGGGTTCTTCCCCACTG

altered cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTCTGGGTTCTTCCCCACTG

wildtype AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG
QYWCHFQDGN YCGETSLLLK VAGLGSAPSI HMEGPGESGV QLVCTARGWF PEPQVYWEDI
RGEKLLAVSE HRIQDKDGLF YAEATLVVRN ASAESVSCLV HNPVLTEEKG SVISLPEKLQ
TELASLKVNG PSQPILVRVG EDIQLTCYLS PKANAQSMEV RWDRSHRYPA VHVYMDGDHV
AGEQMAEYRG RTVLVSDAID EGRLTLQILS ARPSDDGQYR CLFEKDDVYQ EASLDLKVVS
LGSSPLITVE GQEDGEMQPM CSSDGWFPQP HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ
TLLRVTNISA VDVTCSISIP FLGEEKIATF SLSESRMTFL WKTLLVWGLL LAVAVGLPRK
RS*

mutated AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG
QYWCHFQDGN YCGETSLLLK VAGLGSAPSI HMEGPGESGV QLVCTARGWF PEPQVYWEDI
RGEKLLAVSE HRIQDKDGLF YAEATLVVRN ASAESVSCLV HNPVLTEEKG SVISLPEKLQ
TELASLKVNG PSQPILVRVG EDIQLTCYLS PKANAQSMEV RWDRSHRYPA VHVYMDGDHV
AGEQMAEYRG RTVLVSDAID EGRLTLQILS ARPSDDGQYR CLFEKDDVYQ EASLDLKVVG
LGSSPLITVE GQEDGEMQPM CSSDGWFPQP HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ
TLLRVTNISA VDVTCSISIP FLGEEKIATF SLSESRMTFL WKTLLVWGLL LAVAVGLPRK
RS*

speed

1.47 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: 0.995678933580939 (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)

chr6:32363816T>CN/A show variant in all transcripts IGV

HGNC symbol

BTNL2

Ensembl transcript ID

ENST00000374993

Genbank transcript ID

NM_019602

UniProt peptide

Q9UIR0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1078A>G
cDNA.1078A>G
g.15696A>G

AA changes

S360G Score: 56 explain score(s)

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

360

frameshift

known variant

Reference ID: rs2076530

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1104	1521
ExAC	10351	12065	22416

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.573	1
	0.754	0.986
(flanking)	0.452	0.959

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	15696	sequence motif lost	-	wt: GTAA\|gtaa mu: GTAG.gtaa
Donor lost	15696	0.76	wt: TGGTAAGTAAGAATT	GTAA\|gtaa
Donor gained	15695	0.98	mu: GTGGTAGGTAAGAAT	GGTA\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

360

mutated

not conserved

360

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000024340

360

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	455	TOPO_DOM	Extracellular (Potential).	lost
427	427	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1368 / 1368

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

456 / 456

position of stopcodon in wt / mu cDNA

1368 / 1368

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

1079

theoretical NMD boundary in CDS

1028

length of CDS

1368

coding sequence (CDS) position

1078

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

1078

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

15696

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

32363816

original gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTAAGAATTCTAGATAGATA

altered gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTAAGAATTCTAGATAGATA

original cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTCTGGGTTCTTCCCCACTG

altered cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTCTGGGTTCTTCCCCACTG

wildtype AA sequence

mutated AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG
QYWCHFQDGN YCGETSLLLK VAGLGSAPSI HMEGPGESGV QLVCTARGWF PEPQVYWEDI
RGEKLLAVSE HRIQDKDGLF YAEATLVVRN ASAESVSCLV HNPVLTEEKG SVISLPEKLQ
TELASLKVNG PSQPILVRVG EDIQLTCYLS PKANAQSMEV RWDRSHRYPA VHVYMDGDHV
AGEQMAEYRG RTVLVSDAID EGRLTLQILS ARPSDDGQYR CLFEKDDVYQ EASLDLKVVG
LGSSPLITVE GQEDGEMQPM CSSDGWFPQP HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ
TLLRVTNISA VDVTCSISIP FLGEEKIATF SLSGW*

speed

1.36 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99284486843359 (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)

chr6:32363816T>CN/A show variant in all transcripts IGV

HGNC symbol

BTNL2

Ensembl transcript ID

ENST00000414363

Genbank transcript ID

N/A

UniProt peptide

Q9UIR0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.448A>G
cDNA.448A>G
g.15696A>G

AA changes

S150G Score: 56 explain score(s)

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

150

frameshift

known variant

Reference ID: rs2076530

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1104	1521
ExAC	10351	12065	22416

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.573	1
	0.754	0.986
(flanking)	0.452	0.959

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	15696	sequence motif lost	-	wt: GTAA\|gtaa mu: GTAG.gtaa
Donor lost	15696	0.76	wt: TGGTAAGTAAGAATT	GTAA\|gtaa
Donor gained	15695	0.98	mu: GTGGTAGGTAAGAAT	GGTA\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

150

mutated

not conserved

150

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000024340

360

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	455	TOPO_DOM	Extracellular (Potential).	lost
142	234	DOMAIN	Ig-like V-type 2.	lost
164	164	DISULFID	By similarity.	might get lost (downstream of altered splice site)
210	210	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
218	218	DISULFID	By similarity.	might get lost (downstream of altered splice site)
236	355	DOMAIN	Ig-like V-type 3.	might get lost (downstream of altered splice site)
267	267	DISULFID	By similarity.	might get lost (downstream of altered splice site)
341	341	DISULFID	By similarity.	might get lost (downstream of altered splice site)
427	427	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

738 / 738

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

246 / 246

position of stopcodon in wt / mu cDNA

738 / 738

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

449

theoretical NMD boundary in CDS

398

length of CDS

738

coding sequence (CDS) position

448

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

448

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

15696

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

32363816

original gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTAAGAATTCTAGATAGATA

altered gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTAAGAATTCTAGATAGATA

original cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTCTGGGTTCTTCCCCACTG

altered cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTCTGGGTTCTTCCCCACTG

wildtype AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSEKLQ TELASLKVNG PSQPILVRVG EDIQLTCYLS
PKANAQSMEV RWDRSHRYPA VHVYMDGDHV AGEQMAEYRG RTVLVSDAID EGRLTLQILS
ARPSDDGQYR CLFEKDDVYQ EASLDLKVVS LGSSPLITVE GQEDGEMQPM CSSDGWFPQP
HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ TLLRVTNISA VDVTCSISIP FLGEEKIATF
SLSGW*

mutated AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSEKLQ TELASLKVNG PSQPILVRVG EDIQLTCYLS
PKANAQSMEV RWDRSHRYPA VHVYMDGDHV AGEQMAEYRG RTVLVSDAID EGRLTLQILS
ARPSDDGQYR CLFEKDDVYQ EASLDLKVVG LGSSPLITVE GQEDGEMQPM CSSDGWFPQP
HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ TLLRVTNISA VDVTCSISIP FLGEEKIATF
SLSGW*

speed

1.43 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99284486843359 (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)

chr6:32363816T>CN/A show variant in all transcripts IGV

HGNC symbol

BTNL2

Ensembl transcript ID

ENST00000374995

Genbank transcript ID

N/A

UniProt peptide

Q9UIR0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.796A>G
cDNA.796A>G
g.15696A>G

AA changes

S266G Score: 56 explain score(s)

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

266

frameshift

known variant

Reference ID: rs2076530

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1104	1521
ExAC	10351	12065	22416

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.573	1
	0.754	0.986
(flanking)	0.452	0.959

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	15696	sequence motif lost	-	wt: GTAA\|gtaa mu: GTAG.gtaa
Donor lost	15696	0.76	wt: TGGTAAGTAAGAATT	GTAA\|gtaa
Donor gained	15695	0.98	mu: GTGGTAGGTAAGAAT	GGTA\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000024340

360

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	455	TOPO_DOM	Extracellular (Potential).	lost
236	355	DOMAIN	Ig-like V-type 3.	lost
267	267	DISULFID	By similarity.	might get lost (downstream of altered splice site)
341	341	DISULFID	By similarity.	might get lost (downstream of altered splice site)
427	427	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1167 / 1167

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

389 / 389

position of stopcodon in wt / mu cDNA

1167 / 1167

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

1079

theoretical NMD boundary in CDS

1028

length of CDS

1167

coding sequence (CDS) position

796

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

796

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

15696

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

32363816

original gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTAAGAATTCTAGATAGATA

altered gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTAAGAATTCTAGATAGATA

original cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTCTGGGTTCTTCCCCACTG

altered cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTCTGGGTTCTTCCCCACTG

wildtype AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG
QYWCHFQDGN YCGETSLLLK VAEKLLAVLS SLKVNGPSQP ILVRVGEDIQ LTCYLSPKAN
AQSMEVRWDR SHRYPAVHVY MDGDHVAGEQ MAEYRGRTVL VSDAIDEGRL TLQILSARPS
DDGQYRCLFE KDDVYQEASL DLKVVSLGSS PLITVEGQED GEMQPMCSSD GWFPQPHVPW
RDMEGKTIPS SSQALTQGSH GLFHVQTLLR VTNISAVDVT CSISIPFLGE EKIATFSLSE
SRMTFLWKTL LVWGLLLAVA VGLPRKRS*

mutated AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG
QYWCHFQDGN YCGETSLLLK VAEKLLAVLS SLKVNGPSQP ILVRVGEDIQ LTCYLSPKAN
AQSMEVRWDR SHRYPAVHVY MDGDHVAGEQ MAEYRGRTVL VSDAIDEGRL TLQILSARPS
DDGQYRCLFE KDDVYQEASL DLKVVGLGSS PLITVEGQED GEMQPMCSSD GWFPQPHVPW
RDMEGKTIPS SSQALTQGSH GLFHVQTLLR VTNISAVDVT CSISIPFLGE EKIATFSLSE
SRMTFLWKTL LVWGLLLAVA VGLPRKRS*

speed

0.48 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99284486843359 (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)

chr6:32363816T>CN/A show variant in all transcripts IGV

HGNC symbol

BTNL2

Ensembl transcript ID

ENST00000540315

Genbank transcript ID

N/A

UniProt peptide

Q9UIR0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.448A>G
cDNA.448A>G
g.15696A>G

AA changes

S150G Score: 56 explain score(s)

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

150

frameshift

known variant

Reference ID: rs2076530

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1104	1521
ExAC	10351	12065	22416

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.573	1
	0.754	0.986
(flanking)	0.452	0.959

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	15696	sequence motif lost	-	wt: GTAA\|gtaa mu: GTAG.gtaa
Donor lost	15696	0.76	wt: TGGTAAGTAAGAATT	GTAA\|gtaa
Donor gained	15695	0.98	mu: GTGGTAGGTAAGAAT	GGTA\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

150

mutated

not conserved

150

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000024340

360

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	455	TOPO_DOM	Extracellular (Potential).	lost
142	234	DOMAIN	Ig-like V-type 2.	lost
164	164	DISULFID	By similarity.	might get lost (downstream of altered splice site)
210	210	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
218	218	DISULFID	By similarity.	might get lost (downstream of altered splice site)
236	355	DOMAIN	Ig-like V-type 3.	might get lost (downstream of altered splice site)
267	267	DISULFID	By similarity.	might get lost (downstream of altered splice site)
341	341	DISULFID	By similarity.	might get lost (downstream of altered splice site)
427	427	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

738 / 738

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

246 / 246

position of stopcodon in wt / mu cDNA

738 / 738

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

449

theoretical NMD boundary in CDS

398

length of CDS

738

coding sequence (CDS) position

448

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

448

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

15696

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

32363816

original gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTAAGAATTCTAGATAGATA

altered gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTAAGAATTCTAGATAGATA

original cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTCTGGGTTCTTCCCCACTG

altered cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTCTGGGTTCTTCCCCACTG

wildtype AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSDRLD TPKASLKVNG PSQPILVRVG EDIQLTCYLS
PKANAQSMEV RWDRSHRYPA VHVYMDGDHV AGEQMAEYRG RTVLVSDAID EGRLTLQILS
ARPSDDGQYR CLFEKDDVYQ EASLDLKVVS LGSSPLITVE GQEDGEMQPM CSSDGWFPQP
HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ TLLRVTNISA VDVTCSISIP FLGEEKIATF
SLSGW*

mutated AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSDRLD TPKASLKVNG PSQPILVRVG EDIQLTCYLS
PKANAQSMEV RWDRSHRYPA VHVYMDGDHV AGEQMAEYRG RTVLVSDAID EGRLTLQILS
ARPSDDGQYR CLFEKDDVYQ EASLDLKVVG LGSSPLITVE GQEDGEMQPM CSSDGWFPQP
HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ TLLRVTNISA VDVTCSISIP FLGEEKIATF
SLSGW*

speed

0.48 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99284486843359 (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)

chr6:32363816T>CN/A show variant in all transcripts IGV

HGNC symbol

BTNL2

Ensembl transcript ID

ENST00000544175

Genbank transcript ID

N/A

UniProt peptide

Q9UIR0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.247A>G
cDNA.555A>G
g.15696A>G

AA changes

S83G Score: 56 explain score(s)

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

frameshift

known variant

Reference ID: rs2076530

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1104	1521
ExAC	10351	12065	22416

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.573	1
	0.754	0.986
(flanking)	0.452	0.959

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	15696	sequence motif lost	-	wt: GTAA\|gtaa mu: GTAG.gtaa
Donor lost	15696	0.76	wt: TGGTAAGTAAGAATT	GTAA\|gtaa
Donor gained	15695	0.98	mu: GTGGTAGGTAAGAAT	GGTA\|ggta

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

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000024340

360

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	455	TOPO_DOM	Extracellular (Potential).	lost
29	140	DOMAIN	Ig-like V-type 1.	lost
124	124	DISULFID	By similarity.	might get lost (downstream of altered splice site)
142	234	DOMAIN	Ig-like V-type 2.	might get lost (downstream of altered splice site)
164	164	DISULFID	By similarity.	might get lost (downstream of altered splice site)
210	210	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
218	218	DISULFID	By similarity.	might get lost (downstream of altered splice site)
236	355	DOMAIN	Ig-like V-type 3.	might get lost (downstream of altered splice site)
267	267	DISULFID	By similarity.	might get lost (downstream of altered splice site)
341	341	DISULFID	By similarity.	might get lost (downstream of altered splice site)
427	427	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

537 / 537

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

179 / 179

position of stopcodon in wt / mu cDNA

845 / 845

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

309 / 309

chromosome

strand

-1

last intron/exon boundary

556

theoretical NMD boundary in CDS

197

length of CDS

537

coding sequence (CDS) position

247

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

555

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

15696

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

32363816

original gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTAAGAATTCTAGATAGATA

altered gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTAAGAATTCTAGATAGATA

original cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTCTGGGTTCTTCCCCACTG

altered cDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTCTGGGTTCTTCCCCACTG

wildtype AA sequence

MEVRWDRSHR YPAVHVYMDG DHVAGEQMAE YRGRTVLVSD AIDEGRLTLQ ILSARPSDDG
QYRCLFEKDD VYQEASLDLK VVSLGSSPLI TVEGQEDGEM QPMCSSDGWF PQPHVPWRDM
EGKTIPSSSQ ALTQGSHGLF HVQTLLRVTN ISAVDVTCSI SIPFLGEEKI ATFSLSGW*

mutated AA sequence

MEVRWDRSHR YPAVHVYMDG DHVAGEQMAE YRGRTVLVSD AIDEGRLTLQ ILSARPSDDG
QYRCLFEKDD VYQEASLDLK VVGLGSSPLI TVEGQEDGEM QPMCSSDGWF PQPHVPWRDM
EGKTIPSSSQ ALTQGSHGLF HVQTLLRVTN ISAVDVTCSI SIPFLGEEKI ATFSLSGW*

speed

0.43 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.59062653014538e-13 (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)

chr6:32363816T>CN/A show variant in all transcripts IGV

HGNC symbol

BTNL2

Ensembl transcript ID

ENST00000429232

Genbank transcript ID

N/A

UniProt peptide

Q9UIR0

alteration type

single base exchange

alteration region

intron

DNA changes

g.15696A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2076530

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1104	1521
ExAC	10351	12065	22416

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.573	1
	0.754	0.986
(flanking)	0.452	0.959

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	15695	0.98	mu: GTGGTAGGTAAGAAT	GGTA\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
24	455	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
236	355	DOMAIN	Ig-like V-type 3.	might get lost (downstream of altered splice site)
267	267	DISULFID	By similarity.	might get lost (downstream of altered splice site)
341	341	DISULFID	By similarity.	might get lost (downstream of altered splice site)
427	427	CARBOHYD	N-linked (GlcNAc...) (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

1 / 1

chromosome

strand

-1

last intron/exon boundary

796

theoretical NMD boundary in CDS

745

length of CDS

816

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)

15696

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

32363816

original gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAAGTAAGAATTCTAGATAGATA

altered gDNA sequence snippet

GTTTGGATCTGAAGGTGGTAGGTAAGAATTCTAGATAGATA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG
QYWCHFQDGN YCGETSLLLK VAAVLRDDII ASLKVNGPSQ PILVRVGEDI QLTCYLSPKA
NAQSMEVRWD RSHRYPAVHV YMDGDHVAGE QMAEYRGRTV LVSDAIDEGR LTLQILSARP
SDDGQYRCLF EKDDVYQEAS LDLKVVWVLP H*

mutated AA sequence

N/A

speed

1.06 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

Problems