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: ENST00000231229
Querying Taster for transcript #2: ENST00000340184
Querying Taster for transcript #3: ENST00000400707
Querying Taster for transcript #4: ENST00000508408
Querying Taster for transcript #5: ENST00000511704
Querying Taster for transcript #6: ENST00000505126
Querying Taster for transcript #7: ENST00000533815
MT speed 0 s - this script 3.87891 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BTNL8	polymorphism_automatic	1.54898316395702e-12	simple_aae		affected		T201K	single base exchange	rs7703365		show file
BTNL8	polymorphism_automatic	1.54898316395702e-12	simple_aae		affected		T326K	single base exchange	rs7703365		show file
BTNL8	polymorphism_automatic	1.54898316395702e-12	simple_aae		affected		T210K	single base exchange	rs7703365		show file
BTNL8	polymorphism_automatic	1.54898316395702e-12	simple_aae		affected		T119K	single base exchange	rs7703365		show file
BTNL8	polymorphism_automatic	1.54898316395702e-12	simple_aae		affected		T142K	single base exchange	rs7703365		show file
BTNL8	polymorphism_automatic	2.00211840439835e-08	without_aae		affected			single base exchange	rs7703365		show file
BTNL8	polymorphism_automatic	2.00211840439835e-08	without_aae		affected			single base exchange	rs7703365		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998451 (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)

chr5:180377018C>AN/A show variant in all transcripts IGV

HGNC symbol

BTNL8

Ensembl transcript ID

ENST00000400707

Genbank transcript ID

NM_001159709

UniProt peptide

Q6UX41

alteration type

single base exchange

alteration region

CDS

DNA changes

c.602C>A
cDNA.869C>A
g.50942C>A

AA changes

T201K Score: 78 explain score(s)

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

201

frameshift

known variant

Reference ID: rs7703365

database	homozygous (A/A)	heterozygous	allele carriers
1000G	219	538	757
ExAC	5123	9694	14817

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.458	0.004
	-1.192	0
(flanking)	-0.35	0

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 marginally increased	50947	wt: 0.3714 / mu: 0.4001 (marginal change - not scored)	wt: CAAGGAAGAGTGTGG mu: AAAGGAAGAGTGTGG	AGGA\|agag
Donor marginally increased	50945	wt: 0.9944 / mu: 0.9946 (marginal change - not scored)	wt: TACAAGGAAGAGTGT mu: TAAAAGGAAGAGTGT	CAAG\|gaag
Donor marginally increased	50943	wt: 0.9062 / mu: 0.9193 (marginal change - not scored)	wt: TTTACAAGGAAGAGT mu: TTTAAAAGGAAGAGT	TACA\|agga
Donor increased	50939	wt: 0.28 / mu: 0.36	wt: GAGATTTACAAGGAA mu: GAGATTTAAAAGGAA	GATT\|taca

distance from splice site

115

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

201

mutated

not conserved

201

Ptroglodytes

all identical

ENSPTRG00000017644

326

Mmulatta

no alignment

ENSMMUG00000019858

n/a

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
18	238	TOPO_DOM	Extracellular (Potential).	lost
133	222	DOMAIN	Ig-like V-type 2.	lost
206	206	DISULFID	By similarity.	might get lost (downstream of altered splice site)
239	259	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	500	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
270	466	DOMAIN	B30.2/SPRY.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1128 / 1128

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

376 / 376

position of stopcodon in wt / mu cDNA

1395 / 1395

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

268 / 268

chromosome

strand

last intron/exon boundary

755

theoretical NMD boundary in CDS

437

length of CDS

1128

coding sequence (CDS) position

602

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

869

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

50942

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

180377018

original gDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered gDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

original cDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered cDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

wildtype AA sequence

MWTWFVKSLG SVPLISITGY VDRDIQLLCQ SSGWFPRPTA KWKGPQGQDL STDSRTNRDM
HGLFDVEISL TVQENAGSIS CSMRHAHLSR EVESRVQIGD TFFEPISWHL ATKVLGILCC
GLFFGIVGLK IFFSKFQWKI QAELDWRRKH GQAELRDARK HAVEVTLDPE TAHPKLCVSD
LKTVTHRKAP QEVPHSEKRF TRKSVVASQS FQAGKHYWEV DGGHNKRWRV GVCRDDVDRR
KEYVTLSPDH GYWVLRLNGE HLYFTLNPRF ISVFPRTPPT KIGVFLDYEC GTISFFNIND
QSLIYTLTCR FEGLLRPYIE YPSYNEQNGT PIVICPVTQE SEKEASWQRA SAIPETSNSE
SSSQATTPFL PRGEM*

mutated AA sequence

MWTWFVKSLG SVPLISITGY VDRDIQLLCQ SSGWFPRPTA KWKGPQGQDL STDSRTNRDM
HGLFDVEISL TVQENAGSIS CSMRHAHLSR EVESRVQIGD TFFEPISWHL ATKVLGILCC
GLFFGIVGLK IFFSKFQWKI QAELDWRRKH GQAELRDARK HAVEVTLDPE TAHPKLCVSD
LKTVTHRKAP QEVPHSEKRF KRKSVVASQS FQAGKHYWEV DGGHNKRWRV GVCRDDVDRR
KEYVTLSPDH GYWVLRLNGE HLYFTLNPRF ISVFPRTPPT KIGVFLDYEC GTISFFNIND
QSLIYTLTCR FEGLLRPYIE YPSYNEQNGT PIVICPVTQE SEKEASWQRA SAIPETSNSE
SSSQATTPFL PRGEM*

speed

0.23 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: 0.999999999998451 (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)

chr5:180377018C>AN/A show variant in all transcripts IGV

HGNC symbol

BTNL8

Ensembl transcript ID

ENST00000340184

Genbank transcript ID

NM_001040462

UniProt peptide

Q6UX41

alteration type

single base exchange

alteration region

CDS

DNA changes

c.977C>A
cDNA.1183C>A
g.50942C>A

AA changes

T326K Score: 78 explain score(s)

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

326

frameshift

known variant

Reference ID: rs7703365

database	homozygous (A/A)	heterozygous	allele carriers
1000G	219	538	757
ExAC	5123	9694	14817

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.458	0.004
	-1.192	0
(flanking)	-0.35	0

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 marginally increased	50947	wt: 0.3714 / mu: 0.4001 (marginal change - not scored)	wt: CAAGGAAGAGTGTGG mu: AAAGGAAGAGTGTGG	AGGA\|agag
Donor marginally increased	50945	wt: 0.9944 / mu: 0.9946 (marginal change - not scored)	wt: TACAAGGAAGAGTGT mu: TAAAAGGAAGAGTGT	CAAG\|gaag
Donor marginally increased	50943	wt: 0.9062 / mu: 0.9193 (marginal change - not scored)	wt: TTTACAAGGAAGAGT mu: TTTAAAAGGAAGAGT	TACA\|agga
Donor increased	50939	wt: 0.28 / mu: 0.36	wt: GAGATTTACAAGGAA mu: GAGATTTAAAAGGAA	GATT\|taca

distance from splice site

115

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

326

mutated

not conserved

326

Ptroglodytes

all identical

ENSPTRG00000017644

326

Mmulatta

no alignment

ENSMMUG00000019858

n/a

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
260	500	TOPO_DOM	Cytoplasmic (Potential).	lost
270	466	DOMAIN	B30.2/SPRY.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1503 / 1503

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

501 / 501

position of stopcodon in wt / mu cDNA

1709 / 1709

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

207 / 207

chromosome

strand

last intron/exon boundary

1069

theoretical NMD boundary in CDS

812

length of CDS

1503

coding sequence (CDS) position

977

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

1183

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

50942

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

180377018

original gDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered gDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

original cDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered cDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

wildtype AA sequence

MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQWKIQAELD WRRKHGQAEL RDARKHAVEV TLDPETAHPK
LCVSDLKTVT HRKAPQEVPH SEKRFTRKSV VASQSFQAGK HYWEVDGGHN KRWRVGVCRD
DVDRRKEYVT LSPDHGYWVL RLNGEHLYFT LNPRFISVFP RTPPTKIGVF LDYECGTISF
FNINDQSLIY TLTCRFEGLL RPYIEYPSYN EQNGTPIVIC PVTQESEKEA SWQRASAIPE
TSNSESSSQA TTPFLPRGEM *

mutated AA sequence

MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQWKIQAELD WRRKHGQAEL RDARKHAVEV TLDPETAHPK
LCVSDLKTVT HRKAPQEVPH SEKRFKRKSV VASQSFQAGK HYWEVDGGHN KRWRVGVCRD
DVDRRKEYVT LSPDHGYWVL RLNGEHLYFT LNPRFISVFP RTPPTKIGVF LDYECGTISF
FNINDQSLIY TLTCRFEGLL RPYIEYPSYN EQNGTPIVIC PVTQESEKEA SWQRASAIPE
TSNSESSSQA TTPFLPRGEM *

speed

0.23 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998451 (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)

chr5:180377018C>AN/A show variant in all transcripts IGV

HGNC symbol

BTNL8

Ensembl transcript ID

ENST00000511704

Genbank transcript ID

NM_001159707

UniProt peptide

Q6UX41

alteration type

single base exchange

alteration region

CDS

DNA changes

c.629C>A
cDNA.666C>A
g.50942C>A

AA changes

T210K Score: 78 explain score(s)

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

210

frameshift

known variant

Reference ID: rs7703365

database	homozygous (A/A)	heterozygous	allele carriers
1000G	219	538	757
ExAC	5123	9694	14817

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.458	0.004
	-1.192	0
(flanking)	-0.35	0

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 marginally increased	50947	wt: 0.3714 / mu: 0.4001 (marginal change - not scored)	wt: CAAGGAAGAGTGTGG mu: AAAGGAAGAGTGTGG	AGGA\|agag
Donor marginally increased	50945	wt: 0.9944 / mu: 0.9946 (marginal change - not scored)	wt: TACAAGGAAGAGTGT mu: TAAAAGGAAGAGTGT	CAAG\|gaag
Donor marginally increased	50943	wt: 0.9062 / mu: 0.9193 (marginal change - not scored)	wt: TTTACAAGGAAGAGT mu: TTTAAAAGGAAGAGT	TACA\|agga
Donor increased	50939	wt: 0.28 / mu: 0.36	wt: GAGATTTACAAGGAA mu: GAGATTTAAAAGGAA	GATT\|taca

distance from splice site

115

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

210

mutated

not conserved

210

Ptroglodytes

all identical

ENSPTRG00000017644

326

Mmulatta

no alignment

ENSMMUG00000019858

n/a

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
18	238	TOPO_DOM	Extracellular (Potential).	lost
133	222	DOMAIN	Ig-like V-type 2.	lost
239	259	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	500	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
270	466	DOMAIN	B30.2/SPRY.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1155 / 1155

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

385 / 385

position of stopcodon in wt / mu cDNA

1192 / 1192

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

38 / 38

chromosome

strand

last intron/exon boundary

552

theoretical NMD boundary in CDS

464

length of CDS

1155

coding sequence (CDS) position

629

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

666

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

50942

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

180377018

original gDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered gDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

original cDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered cDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

wildtype AA sequence

MALMLSLVLS LLKLGSALGS VPLISITGYV DRDIQLLCQS SGWFPRPTAK WKGPQGQDLS
TDSRTNRDMH GLFDVEISLT VQENAGSISC SMRHAHLSRE VESRVQIGDT FFEPISWHLA
TKVLGILCCG LFFGIVGLKI FFSKFQWKIQ AELDWRRKHG QAELRDARKH AVEVTLDPET
AHPKLCVSDL KTVTHRKAPQ EVPHSEKRFT RKSVVASQSF QAGKHYWEVD GGHNKRWRVG
VCRDDVDRRK EYVTLSPDHG YWVLRLNGEH LYFTLNPRFI SVFPRTPPTK IGVFLDYECG
TISFFNINDQ SLIYTLTCRF EGLLRPYIEY PSYNEQNGTP IVICPVTQES EKEASWQRAS
AIPETSNSES SSQATTPFLP RGEM*

mutated AA sequence

MALMLSLVLS LLKLGSALGS VPLISITGYV DRDIQLLCQS SGWFPRPTAK WKGPQGQDLS
TDSRTNRDMH GLFDVEISLT VQENAGSISC SMRHAHLSRE VESRVQIGDT FFEPISWHLA
TKVLGILCCG LFFGIVGLKI FFSKFQWKIQ AELDWRRKHG QAELRDARKH AVEVTLDPET
AHPKLCVSDL KTVTHRKAPQ EVPHSEKRFK RKSVVASQSF QAGKHYWEVD GGHNKRWRVG
VCRDDVDRRK EYVTLSPDHG YWVLRLNGEH LYFTLNPRFI SVFPRTPPTK IGVFLDYECG
TISFFNINDQ SLIYTLTCRF EGLLRPYIEY PSYNEQNGTP IVICPVTQES EKEASWQRAS
AIPETSNSES SSQATTPFLP RGEM*

speed

1.25 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998451 (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)

chr5:180377018C>AN/A show variant in all transcripts IGV

HGNC symbol

BTNL8

Ensembl transcript ID

ENST00000505126

Genbank transcript ID

N/A

UniProt peptide

Q6UX41

alteration type

single base exchange

alteration region

CDS

DNA changes

c.356C>A
cDNA.714C>A
g.50942C>A

AA changes

T119K Score: 78 explain score(s)

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

119

frameshift

known variant

Reference ID: rs7703365

database	homozygous (A/A)	heterozygous	allele carriers
1000G	219	538	757
ExAC	5123	9694	14817

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.458	0.004
	-1.192	0
(flanking)	-0.35	0

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 marginally increased	50947	wt: 0.3714 / mu: 0.4001 (marginal change - not scored)	wt: CAAGGAAGAGTGTGG mu: AAAGGAAGAGTGTGG	AGGA\|agag
Donor marginally increased	50945	wt: 0.9944 / mu: 0.9946 (marginal change - not scored)	wt: TACAAGGAAGAGTGT mu: TAAAAGGAAGAGTGT	CAAG\|gaag
Donor marginally increased	50943	wt: 0.9062 / mu: 0.9193 (marginal change - not scored)	wt: TTTACAAGGAAGAGT mu: TTTAAAAGGAAGAGT	TACA\|agga
Donor increased	50939	wt: 0.28 / mu: 0.36	wt: GAGATTTACAAGGAA mu: GAGATTTAAAAGGAA	GATT\|taca

distance from splice site

115

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

119

mutated

not conserved

119

Ptroglodytes

all identical

ENSPTRG00000017644

326

Mmulatta

no alignment

ENSMMUG00000019858

n/a

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
18	238	TOPO_DOM	Extracellular (Potential).	lost
19	132	DOMAIN	Ig-like V-type 1.	lost
133	222	DOMAIN	Ig-like V-type 2.	might get lost (downstream of altered splice site)
154	154	DISULFID	By similarity.	might get lost (downstream of altered splice site)
206	206	DISULFID	By similarity.	might get lost (downstream of altered splice site)
239	259	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	500	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
270	466	DOMAIN	B30.2/SPRY.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

882 / 882

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

294 / 294

position of stopcodon in wt / mu cDNA

1240 / 1240

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

359 / 359

chromosome

strand

last intron/exon boundary

600

theoretical NMD boundary in CDS

191

length of CDS

882

coding sequence (CDS) position

356

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

714

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

50942

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

180377018

original gDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered gDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

original cDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered cDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

wildtype AA sequence

MRHAHLSREV ESRVQIGDTF FEPISWHLAT KVLGILCCGL FFGIVGLKIF FSKFQWKIQA
ELDWRRKHGQ AELRDARKHA VEVTLDPETA HPKLCVSDLK TVTHRKAPQE VPHSEKRFTR
KSVVASQSFQ AGKHYWEVDG GHNKRWRVGV CRDDVDRRKE YVTLSPDHGY WVLRLNGEHL
YFTLNPRFIS VFPRTPPTKI GVFLDYECGT ISFFNINDQS LIYTLTCRFE GLLRPYIEYP
SYNEQNGTPI VICPVTQESE KEASWQRASA IPETSNSESS SQATTPFLPR GEM*

mutated AA sequence

MRHAHLSREV ESRVQIGDTF FEPISWHLAT KVLGILCCGL FFGIVGLKIF FSKFQWKIQA
ELDWRRKHGQ AELRDARKHA VEVTLDPETA HPKLCVSDLK TVTHRKAPQE VPHSEKRFKR
KSVVASQSFQ AGKHYWEVDG GHNKRWRVGV CRDDVDRRKE YVTLSPDHGY WVLRLNGEHL
YFTLNPRFIS VFPRTPPTKI GVFLDYECGT ISFFNINDQS LIYTLTCRFE GLLRPYIEYP
SYNEQNGTPI VICPVTQESE KEASWQRASA IPETSNSESS SQATTPFLPR GEM*

speed

1.38 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998451 (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)

chr5:180377018C>AN/A show variant in all transcripts IGV

HGNC symbol

BTNL8

Ensembl transcript ID

ENST00000533815

Genbank transcript ID

NM_001159710

UniProt peptide

Q6UX41

alteration type

single base exchange

alteration region

CDS

DNA changes

c.425C>A
cDNA.714C>A
g.50942C>A

AA changes

T142K Score: 78 explain score(s)

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

142

frameshift

known variant

Reference ID: rs7703365

database	homozygous (A/A)	heterozygous	allele carriers
1000G	219	538	757
ExAC	5123	9694	14817

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.458	0.004
	-1.192	0
(flanking)	-0.35	0

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 marginally increased	50947	wt: 0.3714 / mu: 0.4001 (marginal change - not scored)	wt: CAAGGAAGAGTGTGG mu: AAAGGAAGAGTGTGG	AGGA\|agag
Donor marginally increased	50945	wt: 0.9944 / mu: 0.9946 (marginal change - not scored)	wt: TACAAGGAAGAGTGT mu: TAAAAGGAAGAGTGT	CAAG\|gaag
Donor marginally increased	50943	wt: 0.9062 / mu: 0.9193 (marginal change - not scored)	wt: TTTACAAGGAAGAGT mu: TTTAAAAGGAAGAGT	TACA\|agga
Donor increased	50939	wt: 0.28 / mu: 0.36	wt: GAGATTTACAAGGAA mu: GAGATTTAAAAGGAA	GATT\|taca

distance from splice site

115

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

142

mutated

not conserved

142

Ptroglodytes

all identical

ENSPTRG00000017644

326

Mmulatta

no alignment

ENSMMUG00000019858

n/a

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
18	238	TOPO_DOM	Extracellular (Potential).	lost
133	222	DOMAIN	Ig-like V-type 2.	lost
154	154	DISULFID	By similarity.	might get lost (downstream of altered splice site)
206	206	DISULFID	By similarity.	might get lost (downstream of altered splice site)
239	259	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	500	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
270	466	DOMAIN	B30.2/SPRY.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

951 / 951

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

317 / 317

position of stopcodon in wt / mu cDNA

1240 / 1240

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

290 / 290

chromosome

strand

last intron/exon boundary

600

theoretical NMD boundary in CDS

260

length of CDS

951

coding sequence (CDS) position

425

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

714

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

50942

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

180377018

original gDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered gDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

original cDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered cDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

wildtype AA sequence

MHGLFDVEIS LTVQENAGSI SCSMRHAHLS REVESRVQIG DTFFEPISWH LATKVLGILC
CGLFFGIVGL KIFFSKFQWK IQAELDWRRK HGQAELRDAR KHAVEVTLDP ETAHPKLCVS
DLKTVTHRKA PQEVPHSEKR FTRKSVVASQ SFQAGKHYWE VDGGHNKRWR VGVCRDDVDR
RKEYVTLSPD HGYWVLRLNG EHLYFTLNPR FISVFPRTPP TKIGVFLDYE CGTISFFNIN
DQSLIYTLTC RFEGLLRPYI EYPSYNEQNG TPIVICPVTQ ESEKEASWQR ASAIPETSNS
ESSSQATTPF LPRGEM*

mutated AA sequence

MHGLFDVEIS LTVQENAGSI SCSMRHAHLS REVESRVQIG DTFFEPISWH LATKVLGILC
CGLFFGIVGL KIFFSKFQWK IQAELDWRRK HGQAELRDAR KHAVEVTLDP ETAHPKLCVS
DLKTVTHRKA PQEVPHSEKR FKRKSVVASQ SFQAGKHYWE VDGGHNKRWR VGVCRDDVDR
RKEYVTLSPD HGYWVLRLNG EHLYFTLNPR FISVFPRTPP TKIGVFLDYE CGTISFFNIN
DQSLIYTLTC RFEGLLRPYI EYPSYNEQNG TPIVICPVTQ ESEKEASWQR ASAIPETSNS
ESSSQATTPF LPRGEM*

speed

0.13 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999979978816 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:180377018C>AN/A show variant in all transcripts IGV

HGNC symbol

BTNL8

Ensembl transcript ID

ENST00000231229

Genbank transcript ID

NM_024850

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1341C>A
g.50942C>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7703365

database	homozygous (A/A)	heterozygous	allele carriers
1000G	219	538	757
ExAC	5123	9694	14817

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.458	0.004
	-1.192	0
(flanking)	-0.35	0

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

splice sites

splice site change occurs after stopcodon (at aa 368)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	50947	wt: 0.3714 / mu: 0.4001 (marginal change - not scored)	wt: CAAGGAAGAGTGTGG mu: AAAGGAAGAGTGTGG	AGGA\|agag
Donor marginally increased	50945	wt: 0.9944 / mu: 0.9946 (marginal change - not scored)	wt: TACAAGGAAGAGTGT mu: TAAAAGGAAGAGTGT	CAAG\|gaag
Donor marginally increased	50943	wt: 0.9062 / mu: 0.9193 (marginal change - not scored)	wt: TTTACAAGGAAGAGT mu: TTTAAAAGGAAGAGT	TACA\|agga
Donor increased	50939	wt: 0.28 / mu: 0.36	wt: GAGATTTACAAGGAA mu: GAGATTTAAAAGGAA	GATT\|taca

distance from splice site

115

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

235 / 235

chromosome

strand

last intron/exon boundary

1227

theoretical NMD boundary in CDS

942

length of CDS

1044

coding sequence (CDS) position

N/A

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

1341

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

50942

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

180377018

original gDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered gDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

original cDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered cDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

wildtype AA sequence

mutated AA sequence

N/A

speed

0.24 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999979978816 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:180377018C>AN/A show variant in all transcripts IGV

HGNC symbol

BTNL8

Ensembl transcript ID

ENST00000508408

Genbank transcript ID

NM_001159708

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1123C>A
g.50942C>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7703365

database	homozygous (A/A)	heterozygous	allele carriers
1000G	219	538	757
ExAC	5123	9694	14817

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.458	0.004
	-1.192	0
(flanking)	-0.35	0

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

splice sites

splice site change occurs after stopcodon (at aa 361)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	50947	wt: 0.3714 / mu: 0.4001 (marginal change - not scored)	wt: CAAGGAAGAGTGTGG mu: AAAGGAAGAGTGTGG	AGGA\|agag
Donor marginally increased	50945	wt: 0.9944 / mu: 0.9946 (marginal change - not scored)	wt: TACAAGGAAGAGTGT mu: TAAAAGGAAGAGTGT	CAAG\|gaag
Donor marginally increased	50943	wt: 0.9062 / mu: 0.9193 (marginal change - not scored)	wt: TTTACAAGGAAGAGT mu: TTTAAAAGGAAGAGT	TACA\|agga
Donor increased	50939	wt: 0.28 / mu: 0.36	wt: GAGATTTACAAGGAA mu: GAGATTTAAAAGGAA	GATT\|taca

distance from splice site

115

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

38 / 38

chromosome

strand

last intron/exon boundary

1009

theoretical NMD boundary in CDS

921

length of CDS

1023

coding sequence (CDS) position

N/A

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

1123

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

50942

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

180377018

original gDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered gDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

original cDNA sequence snippet

TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT

altered cDNA sequence snippet

TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT

wildtype AA sequence

mutated AA sequence

N/A

speed

0.12 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