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: ENST00000353836
Querying Taster for transcript #2: ENST00000441969
Querying Taster for transcript #3: ENST00000525998
Querying Taster for transcript #4: ENST00000436984
Querying Taster for transcript #5: ENST00000439889
Querying Taster for transcript #6: ENST00000339313
Querying Taster for transcript #7: ENST00000432469
Querying Taster for transcript #8: ENST00000442846
Querying Taster for transcript #9: ENST00000356298
MT speed 5.91 s - this script 6.25674 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SIGLEC10	polymorphism_automatic	4.9960036108132e-15	simple_aae				A168V	single base exchange	rs9304711		show file
SIGLEC10	polymorphism_automatic	2.20280460538902e-11	simple_aae				A226V	single base exchange	rs9304711		show file
SIGLEC10	polymorphism_automatic	2.20280460538902e-11	simple_aae				A168V	single base exchange	rs9304711		show file
SIGLEC10	polymorphism_automatic	2.20280460538902e-11	simple_aae				A226V	single base exchange	rs9304711		show file
SIGLEC10	polymorphism_automatic	2.20280460538902e-11	simple_aae				A178V	single base exchange	rs9304711		show file
SIGLEC10	polymorphism_automatic	2.20280460538902e-11	simple_aae				A226V	single base exchange	rs9304711		show file
SIGLEC10	polymorphism_automatic	2.20280460538902e-11	simple_aae				A226V	single base exchange	rs9304711		show file
SIGLEC10	polymorphism_automatic	2.43499664875912e-11	simple_aae				A168V	single base exchange	rs9304711		show file
SIGLEC10	polymorphism_automatic	9.89511557829559e-05	without_aae					single base exchange	rs9304711		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999995 (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)

chr19:51919949G>AN/A show variant in all transcripts IGV

HGNC symbol

SIGLEC10

Ensembl transcript ID

ENST00000442846

Genbank transcript ID

NM_001171161

UniProt peptide

Q96LC7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.503C>T
cDNA.725C>T
g.1109C>T

AA changes

A168V Score: 64 explain score(s)

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

168

frameshift

known variant

Reference ID: rs9304711

database	homozygous (A/A)	heterozygous	allele carriers
1000G	252	853	1105
ExAC	4950	22289	27239

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.296	0
	1.485	0.002
(flanking)	-0.256	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	1114	wt: 0.9084 / mu: 0.9130 (marginal change - not scored)	wt: CACAGAGGACCGTCC mu: TACAGAGGACCGTCC	CAGA\|ggac
Donor marginally increased	1109	wt: 0.3728 / mu: 0.3755 (marginal change - not scored)	wt: GAGCGCACAGAGGAC mu: GAGCGTACAGAGGAC	GCGC\|acag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

168

mutated

not conserved

168

Ptroglodytes

all conserved

ENSPTRG00000011383

187

PTTSHFSV

Mmulatta

all conserved

ENSMMUG00000021111

187

GTA

PTTYHFSV

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030468

202

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089404

172

PETPPVITWWI

LDNNKITQVHSE

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	550	TOPO_DOM	Extracellular (Potential).	lost
146	231	DOMAIN	Ig-like C2-type 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1365 / 1365

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

455 / 455

position of stopcodon in wt / mu cDNA

1587 / 1587

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

223 / 223

chromosome

strand

-1

last intron/exon boundary

1315

theoretical NMD boundary in CDS

1042

length of CDS

1365

coding sequence (CDS) position

503

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

725

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

1109

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

51919949

original gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

original cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

wildtype AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT VLSFTPRPQD HNTDLTCHVD FSRKGVSAQR TVRLRVAYAP
RDLVISISRD NTPDPPENLR VMVSQANRTV LENLGNGTSL PVLEGQSLCL VCVTHSSPPA
RLSWTQRGQV LSPSQPSDPG VLELPRVQVE HEGEFTCHAR HPLGSQHVSL SLSVHYKKGL
ISTAFSNGAF LGIGITALLF LCLALIIMKI LPKRRTQTET PRPRFSRHST ILDYINVVPT
AGPLAQKRNQ KATPNSPRTP LPPGAPSPES KKNQKKQYQL PSFPEPKSST QAPESQESQE
ELHYATLNFP GVRPRPEARM PKGTQADYAE VKFQ*

mutated AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT VLSFTPRPQD HNTDLTCHVD FSRKGVSVQR TVRLRVAYAP
RDLVISISRD NTPDPPENLR VMVSQANRTV LENLGNGTSL PVLEGQSLCL VCVTHSSPPA
RLSWTQRGQV LSPSQPSDPG VLELPRVQVE HEGEFTCHAR HPLGSQHVSL SLSVHYKKGL
ISTAFSNGAF LGIGITALLF LCLALIIMKI LPKRRTQTET PRPRFSRHST ILDYINVVPT
AGPLAQKRNQ KATPNSPRTP LPPGAPSPES KKNQKKQYQL PSFPEPKSST QAPESQESQE
ELHYATLNFP GVRPRPEARM PKGTQADYAE VKFQ*

speed

0.96 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: 0.999999999977972 (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)

chr19:51919949G>AN/A show variant in all transcripts IGV

HGNC symbol

SIGLEC10

Ensembl transcript ID

ENST00000353836

Genbank transcript ID

NM_001171157

UniProt peptide

Q96LC7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.677C>T
cDNA.899C>T
g.1109C>T

AA changes

A226V Score: 64 explain score(s)

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

226

frameshift

known variant

Reference ID: rs9304711

database	homozygous (A/A)	heterozygous	allele carriers
1000G	252	853	1105
ExAC	4950	22289	27239

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.296	0
	1.485	0.002
(flanking)	-0.256	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	1114	wt: 0.9084 / mu: 0.9130 (marginal change - not scored)	wt: CACAGAGGACCGTCC mu: TACAGAGGACCGTCC	CAGA\|ggac
Donor marginally increased	1109	wt: 0.3728 / mu: 0.3755 (marginal change - not scored)	wt: GAGCGCACAGAGGAC mu: GAGCGTACAGAGGAC	GCGC\|acag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

226

mutated

not conserved

226

Ptroglodytes

all identical

ENSPTRG00000011383

226

Mmulatta

all identical

ENSMMUG00000021111

228

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030468

225

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089404

232

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	550	TOPO_DOM	Extracellular (Potential).	lost
146	231	DOMAIN	Ig-like C2-type 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1809 / 1809

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

603 / 603

position of stopcodon in wt / mu cDNA

2031 / 2031

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

223 / 223

chromosome

strand

-1

last intron/exon boundary

1759

theoretical NMD boundary in CDS

1486

length of CDS

1809

coding sequence (CDS) position

677

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

899

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

1109

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

51919949

original gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

original cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

wildtype AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSAQRTV RLRVAYAPRD
LVISISRDNT PALEPQPQGN VPYLEAQKGQ FLRLLCAADS QPPATLSWVL QNRVLSSSHP
WGPRPLGLEL PGVKAGDSGR YTCRAENRLG SQQRALDLSV QYPPENLRVM VSQANRTVLE
NLGNGTSLPV LEGQSLCLVC VTHSSPPARL SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE
GEFTCHARHP LGSQHVSLSL SVHYKKGLIS TAFSNGAFLG IGITALLFLC LALIIMKILP
KRRTQTETPR PRFSRHSTIL DYINVVPTAG PLAQKRNQKA TPNSPRTPLP PGAPSPESKK
NQKKQYQLPS FPEPKSSTQA PESQESQEEL HYATLNFPGV RPRPEARMPK GTQADYAEVK
FQ*

mutated AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSVQRTV RLRVAYAPRD
LVISISRDNT PALEPQPQGN VPYLEAQKGQ FLRLLCAADS QPPATLSWVL QNRVLSSSHP
WGPRPLGLEL PGVKAGDSGR YTCRAENRLG SQQRALDLSV QYPPENLRVM VSQANRTVLE
NLGNGTSLPV LEGQSLCLVC VTHSSPPARL SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE
GEFTCHARHP LGSQHVSLSL SVHYKKGLIS TAFSNGAFLG IGITALLFLC LALIIMKILP
KRRTQTETPR PRFSRHSTIL DYINVVPTAG PLAQKRNQKA TPNSPRTPLP PGAPSPESKK
NQKKQYQLPS FPEPKSSTQA PESQESQEEL HYATLNFPGV RPRPEARMPK GTQADYAEVK
FQ*

speed

0.91 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999977972 (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)

chr19:51919949G>AN/A show variant in all transcripts IGV

HGNC symbol

SIGLEC10

Ensembl transcript ID

ENST00000441969

Genbank transcript ID

NM_001171159

UniProt peptide

Q96LC7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.503C>T
cDNA.558C>T
g.1109C>T

AA changes

A168V Score: 64 explain score(s)

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

168

frameshift

known variant

Reference ID: rs9304711

database	homozygous (A/A)	heterozygous	allele carriers
1000G	252	853	1105
ExAC	4950	22289	27239

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.296	0
	1.485	0.002
(flanking)	-0.256	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	1114	wt: 0.9084 / mu: 0.9130 (marginal change - not scored)	wt: CACAGAGGACCGTCC mu: TACAGAGGACCGTCC	CAGA\|ggac
Donor marginally increased	1109	wt: 0.3728 / mu: 0.3755 (marginal change - not scored)	wt: GAGCGCACAGAGGAC mu: GAGCGTACAGAGGAC	GCGC\|acag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

168

mutated

not conserved

168

Ptroglodytes

all identical

ENSPTRG00000011383

226

Mmulatta

all identical

ENSMMUG00000021111

228

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030468

217

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089404

172

PETPPVITWWI

LDNNKITQVHSE

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	550	TOPO_DOM	Extracellular (Potential).	lost
146	231	DOMAIN	Ig-like C2-type 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1635 / 1635

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

545 / 545

position of stopcodon in wt / mu cDNA

1690 / 1690

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

56 / 56

chromosome

strand

-1

last intron/exon boundary

1418

theoretical NMD boundary in CDS

1312

length of CDS

1635

coding sequence (CDS) position

503

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

558

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

1109

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

51919949

original gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

original cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

wildtype AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT VLSFTPRPQD HNTDLTCHVD FSRKGVSAQR TVRLRVAYAP
RDLVISISRD NTPALEPQPQ GNVPYLEAQK GQFLRLLCAA DSQPPATLSW VLQNRVLSSS
HPWGPRPLGL ELPGVKAGDS GRYTCRAENR LGSQQRALDL SVQYPPENLR VMVSQANRTV
LENLGNGTSL PVLEGQSLCL VCVTHSSPPA RLSWTQRGQV LSPSQPSDPG VLELPRVQVE
HEGEFTCHAR HPLGSQHVSL SLSVHYKKGL ISTAFSNGAF LGIGITALLF LCLALIIMKI
LPKRRTQTET PRPRFSRHST ILDYINVVPT AGPLAQKRNQ KATPNSPRTP LPPGAPSPES
KKNQKKQYQL PSFPEPKSST QAPESQESQE ELHYATLNFP GVRPRPEARM PKGTQADYAE
VKFQ*

mutated AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT VLSFTPRPQD HNTDLTCHVD FSRKGVSVQR TVRLRVAYAP
RDLVISISRD NTPALEPQPQ GNVPYLEAQK GQFLRLLCAA DSQPPATLSW VLQNRVLSSS
HPWGPRPLGL ELPGVKAGDS GRYTCRAENR LGSQQRALDL SVQYPPENLR VMVSQANRTV
LENLGNGTSL PVLEGQSLCL VCVTHSSPPA RLSWTQRGQV LSPSQPSDPG VLELPRVQVE
HEGEFTCHAR HPLGSQHVSL SLSVHYKKGL ISTAFSNGAF LGIGITALLF LCLALIIMKI
LPKRRTQTET PRPRFSRHST ILDYINVVPT AGPLAQKRNQ KATPNSPRTP LPPGAPSPES
KKNQKKQYQL PSFPEPKSST QAPESQESQE ELHYATLNFP GVRPRPEARM PKGTQADYAE
VKFQ*

speed

0.34 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999977972 (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)

chr19:51919949G>AN/A show variant in all transcripts IGV

HGNC symbol

SIGLEC10

Ensembl transcript ID

ENST00000525998

Genbank transcript ID

N/A

UniProt peptide

Q96LC7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.677C>T
cDNA.738C>T
g.1109C>T

AA changes

A226V Score: 64 explain score(s)

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

226

frameshift

known variant

Reference ID: rs9304711

database	homozygous (A/A)	heterozygous	allele carriers
1000G	252	853	1105
ExAC	4950	22289	27239

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.296	0
	1.485	0.002
(flanking)	-0.256	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	1114	wt: 0.9084 / mu: 0.9130 (marginal change - not scored)	wt: CACAGAGGACCGTCC mu: TACAGAGGACCGTCC	CAGA\|ggac
Donor marginally increased	1109	wt: 0.3728 / mu: 0.3755 (marginal change - not scored)	wt: GAGCGCACAGAGGAC mu: GAGCGTACAGAGGAC	GCGC\|acag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

226

mutated

not conserved

226

Ptroglodytes

all identical

ENSPTRG00000011383

226

Mmulatta

all identical

ENSMMUG00000021111

228

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030468

225

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089404

232

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	550	TOPO_DOM	Extracellular (Potential).	lost
146	231	DOMAIN	Ig-like C2-type 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1539 / 1539

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

513 / 513

position of stopcodon in wt / mu cDNA

1600 / 1600

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

62 / 62

chromosome

strand

-1

last intron/exon boundary

1328

theoretical NMD boundary in CDS

1216

length of CDS

1539

coding sequence (CDS) position

677

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

738

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

1109

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

51919949

original gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

original cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

wildtype AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSAQRTV RLRVAYAPRD
LVISISRDNT PDPPENLRVM VSQANRTVLE NLGNGTSLPV LEGQSLCLVC VTHSSPPARL
SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE GEFTCHARHP LGSQHVSLSL SVHYKKGLIS
TAFSNGAFLG IGITALLFLC LALIIMKILP KRRTQTETPR PRFSRHSTIL DYINVVPTAG
PLAQKRNQKA TPNSPRTPLP PGAPSPESKK NQKKQYQLPS FPEPKSSTQA PESQESQEEL
HYATLNFPGV RPRPEARMPK GTQADYAEVK FQ*

mutated AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSVQRTV RLRVAYAPRD
LVISISRDNT PDPPENLRVM VSQANRTVLE NLGNGTSLPV LEGQSLCLVC VTHSSPPARL
SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE GEFTCHARHP LGSQHVSLSL SVHYKKGLIS
TAFSNGAFLG IGITALLFLC LALIIMKILP KRRTQTETPR PRFSRHSTIL DYINVVPTAG
PLAQKRNQKA TPNSPRTPLP PGAPSPESKK NQKKQYQLPS FPEPKSSTQA PESQESQEEL
HYATLNFPGV RPRPEARMPK GTQADYAEVK FQ*

speed

0.89 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999977972 (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)

chr19:51919949G>AN/A show variant in all transcripts IGV

HGNC symbol

SIGLEC10

Ensembl transcript ID

ENST00000436984

Genbank transcript ID

NM_001171158

UniProt peptide

Q96LC7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.533C>T
cDNA.594C>T
g.1109C>T

AA changes

A178V Score: 64 explain score(s)

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

178

frameshift

known variant

Reference ID: rs9304711

database	homozygous (A/A)	heterozygous	allele carriers
1000G	252	853	1105
ExAC	4950	22289	27239

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.296	0
	1.485	0.002
(flanking)	-0.256	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	1114	wt: 0.9084 / mu: 0.9130 (marginal change - not scored)	wt: CACAGAGGACCGTCC mu: TACAGAGGACCGTCC	CAGA\|ggac
Donor marginally increased	1109	wt: 0.3728 / mu: 0.3755 (marginal change - not scored)	wt: GAGCGCACAGAGGAC mu: GAGCGTACAGAGGAC	GCGC\|acag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

178

mutated

not conserved

178

Ptroglodytes

all identical

ENSPTRG00000011383

218

Mmulatta

all identical

ENSMMUG00000021111

218

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030468

217

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089404

232

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	550	TOPO_DOM	Extracellular (Potential).	lost
146	231	DOMAIN	Ig-like C2-type 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1665 / 1665

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

555 / 555

position of stopcodon in wt / mu cDNA

1726 / 1726

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

62 / 62

chromosome

strand

-1

last intron/exon boundary

1454

theoretical NMD boundary in CDS

1342

length of CDS

1665

coding sequence (CDS) position

533

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

594

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

1109

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

51919949

original gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

original cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

wildtype AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT GTKPTTSHFS VLSFTPRPQD HNTDLTCHVD FSRKGVSAQR
TVRLRVAYAP RDLVISISRD NTPALEPQPQ GNVPYLEAQK GQFLRLLCAA DSQPPATLSW
VLQNRVLSSS HPWGPRPLGL ELPGVKAGDS GRYTCRAENR LGSQQRALDL SVQYPPENLR
VMVSQANRTV LENLGNGTSL PVLEGQSLCL VCVTHSSPPA RLSWTQRGQV LSPSQPSDPG
VLELPRVQVE HEGEFTCHAR HPLGSQHVSL SLSVHYKKGL ISTAFSNGAF LGIGITALLF
LCLALIIMKI LPKRRTQTET PRPRFSRHST ILDYINVVPT AGPLAQKRNQ KATPNSPRTP
LPPGAPSPES KKNQKKQYQL PSFPEPKSST QAPESQESQE ELHYATLNFP GVRPRPEARM
PKGTQADYAE VKFQ*

mutated AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT GTKPTTSHFS VLSFTPRPQD HNTDLTCHVD FSRKGVSVQR
TVRLRVAYAP RDLVISISRD NTPALEPQPQ GNVPYLEAQK GQFLRLLCAA DSQPPATLSW
VLQNRVLSSS HPWGPRPLGL ELPGVKAGDS GRYTCRAENR LGSQQRALDL SVQYPPENLR
VMVSQANRTV LENLGNGTSL PVLEGQSLCL VCVTHSSPPA RLSWTQRGQV LSPSQPSDPG
VLELPRVQVE HEGEFTCHAR HPLGSQHVSL SLSVHYKKGL ISTAFSNGAF LGIGITALLF
LCLALIIMKI LPKRRTQTET PRPRFSRHST ILDYINVVPT AGPLAQKRNQ KATPNSPRTP
LPPGAPSPES KKNQKKQYQL PSFPEPKSST QAPESQESQE ELHYATLNFP GVRPRPEARM
PKGTQADYAE VKFQ*

speed

0.37 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999977972 (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)

chr19:51919949G>AN/A show variant in all transcripts IGV

HGNC symbol

SIGLEC10

Ensembl transcript ID

ENST00000339313

Genbank transcript ID

N/A

UniProt peptide

Q96LC7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.677C>T
cDNA.794C>T
g.1109C>T

AA changes

A226V Score: 64 explain score(s)

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

226

frameshift

known variant

Reference ID: rs9304711

database	homozygous (A/A)	heterozygous	allele carriers
1000G	252	853	1105
ExAC	4950	22289	27239

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.296	0
	1.485	0.002
(flanking)	-0.256	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	1114	wt: 0.9084 / mu: 0.9130 (marginal change - not scored)	wt: CACAGAGGACCGTCC mu: TACAGAGGACCGTCC	CAGA\|ggac
Donor marginally increased	1109	wt: 0.3728 / mu: 0.3755 (marginal change - not scored)	wt: GAGCGCACAGAGGAC mu: GAGCGTACAGAGGAC	GCGC\|acag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

226

mutated

not conserved

226

Ptroglodytes

all identical

ENSPTRG00000011383

226

Mmulatta

all identical

ENSMMUG00000021111

228

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030468

225

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089404

232

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	550	TOPO_DOM	Extracellular (Potential).	lost
146	231	DOMAIN	Ig-like C2-type 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2094 / 2094

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

698 / 698

position of stopcodon in wt / mu cDNA

2211 / 2211

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

118 / 118

chromosome

strand

-1

last intron/exon boundary

1939

theoretical NMD boundary in CDS

1771

length of CDS

2094

coding sequence (CDS) position

677

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

794

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

1109

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

51919949

original gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

original cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

wildtype AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSAQRTV RLRVAYAPRD
LVISISRDNT PALEPQPQGN VPYLEAQKGQ FLRLLCAADS QPPATLSWVL QNRVLSSSHP
WGPRPLGLEL PGVKAGDSGR YTCRAENRLG SQQRALDLSV QYPPENLRVM VSQANRTVLE
NLGNGTSLPV LEGQSLCLVC VTHSSPPARL SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE
GEFTCHARHP LGSQHVSLSL SVHYSPKLLG PSCSWEAEGL HCSCSSQASP APSLRWWLGE
ELLEGNSSQD SFEVTPSSAG PWANSSLSLH GGLSSGLRLR CEAWNVHGAQ SGSILQLPDK
KGLISTAFSN GAFLGIGITA LLFLCLALII MKILPKRRTQ TETPRPRFSR HSTILDYINV
VPTAGPLAQK RNQKATPNSP RTPLPPGAPS PESKKNQKKQ YQLPSFPEPK SSTQAPESQE
SQEELHYATL NFPGVRPRPE ARMPKGTQAD YAEVKFQ*

mutated AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSVQRTV RLRVAYAPRD
LVISISRDNT PALEPQPQGN VPYLEAQKGQ FLRLLCAADS QPPATLSWVL QNRVLSSSHP
WGPRPLGLEL PGVKAGDSGR YTCRAENRLG SQQRALDLSV QYPPENLRVM VSQANRTVLE
NLGNGTSLPV LEGQSLCLVC VTHSSPPARL SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE
GEFTCHARHP LGSQHVSLSL SVHYSPKLLG PSCSWEAEGL HCSCSSQASP APSLRWWLGE
ELLEGNSSQD SFEVTPSSAG PWANSSLSLH GGLSSGLRLR CEAWNVHGAQ SGSILQLPDK
KGLISTAFSN GAFLGIGITA LLFLCLALII MKILPKRRTQ TETPRPRFSR HSTILDYINV
VPTAGPLAQK RNQKATPNSP RTPLPPGAPS PESKKNQKKQ YQLPSFPEPK SSTQAPESQE
SQEELHYATL NFPGVRPRPE ARMPKGTQAD YAEVKFQ*

speed

0.74 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999977972 (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)

chr19:51919949G>AN/A show variant in all transcripts IGV

HGNC symbol

SIGLEC10

Ensembl transcript ID

ENST00000356298

Genbank transcript ID

N/A

UniProt peptide

Q96LC7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.677C>T
cDNA.794C>T
g.1109C>T

AA changes

A226V Score: 64 explain score(s)

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

226

frameshift

known variant

Reference ID: rs9304711

database	homozygous (A/A)	heterozygous	allele carriers
1000G	252	853	1105
ExAC	4950	22289	27239

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.296	0
	1.485	0.002
(flanking)	-0.256	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	1114	wt: 0.9084 / mu: 0.9130 (marginal change - not scored)	wt: CACAGAGGACCGTCC mu: TACAGAGGACCGTCC	CAGA\|ggac
Donor marginally increased	1109	wt: 0.3728 / mu: 0.3755 (marginal change - not scored)	wt: GAGCGCACAGAGGAC mu: GAGCGTACAGAGGAC	GCGC\|acag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

226

mutated

not conserved

226

Ptroglodytes

all identical

ENSPTRG00000011383

226

Mmulatta

all identical

ENSMMUG00000021111

228

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030468

225

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089404

232

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	550	TOPO_DOM	Extracellular (Potential).	lost
146	231	DOMAIN	Ig-like C2-type 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2094 / 2094

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

698 / 698

position of stopcodon in wt / mu cDNA

2211 / 2211

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

118 / 118

chromosome

strand

-1

last intron/exon boundary

2463

theoretical NMD boundary in CDS

2295

length of CDS

2094

coding sequence (CDS) position

677

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

794

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

1109

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

51919949

original gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

original cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

wildtype AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSAQRTV RLRVAYAPRD
LVISISRDNT PALEPQPQGN VPYLEAQKGQ FLRLLCAADS QPPATLSWVL QNRVLSSSHP
WGPRPLGLEL PGVKAGDSGR YTCRAENRLG SQQRALDLSV QYPPENLRVM VSQANRTVLE
NLGNGTSLPV LEGQSLCLVC VTHSSPPARL SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE
GEFTCHARHP LGSQHVSLSL SVHYSPKLLG PSCSWEAEGL HCSCSSQASP APSLRWWLGE
ELLEGNSSQD SFEVTPSSAG PWANSSLSLH GGLSSGLRLR CEAWNVHGAQ SGSILQLPDK
KGLISTAFSN GAFLGIGITA LLFLCLALII MKILPKRRTQ TETPRPRFSR HSTILDYINV
VPTAGPLAQK RNQKATPNSP RTPLPPGAPS PESKKNQKKQ YQLPSFPEPK SSTQAPESQE
SQEELHYATL NFPGVRPRPE ARMPKGTQAD YAEVKFQ*

mutated AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSVQRTV RLRVAYAPRD
LVISISRDNT PALEPQPQGN VPYLEAQKGQ FLRLLCAADS QPPATLSWVL QNRVLSSSHP
WGPRPLGLEL PGVKAGDSGR YTCRAENRLG SQQRALDLSV QYPPENLRVM VSQANRTVLE
NLGNGTSLPV LEGQSLCLVC VTHSSPPARL SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE
GEFTCHARHP LGSQHVSLSL SVHYSPKLLG PSCSWEAEGL HCSCSSQASP APSLRWWLGE
ELLEGNSSQD SFEVTPSSAG PWANSSLSLH GGLSSGLRLR CEAWNVHGAQ SGSILQLPDK
KGLISTAFSN GAFLGIGITA LLFLCLALII MKILPKRRTQ TETPRPRFSR HSTILDYINV
VPTAGPLAQK RNQKATPNSP RTPLPPGAPS PESKKNQKKQ YQLPSFPEPK SSTQAPESQE
SQEELHYATL NFPGVRPRPE ARMPKGTQAD YAEVKFQ*

speed

0.28 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999997565 (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)

chr19:51919949G>AN/A show variant in all transcripts IGV

HGNC symbol

SIGLEC10

Ensembl transcript ID

ENST00000439889

Genbank transcript ID

NM_001171156

UniProt peptide

Q96LC7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.503C>T
cDNA.659C>T
g.1109C>T

AA changes

A168V Score: 64 explain score(s)

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

168

frameshift

known variant

Reference ID: rs9304711

database	homozygous (A/A)	heterozygous	allele carriers
1000G	252	853	1105
ExAC	4950	22289	27239

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.296	0
	1.485	0.002
(flanking)	-0.256	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	1114	wt: 0.9084 / mu: 0.9130 (marginal change - not scored)	wt: CACAGAGGACCGTCC mu: TACAGAGGACCGTCC	CAGA\|ggac
Donor marginally increased	1109	wt: 0.3728 / mu: 0.3755 (marginal change - not scored)	wt: GAGCGCACAGAGGAC mu: GAGCGTACAGAGGAC	GCGC\|acag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

168

mutated

not conserved

168

Ptroglodytes

all identical

ENSPTRG00000011383

226

Mmulatta

all identical

ENSMMUG00000021111

228

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030468

217

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000089404

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
17	550	TOPO_DOM	Extracellular (Potential).	lost
146	231	DOMAIN	Ig-like C2-type 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1920 / 1920

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

640 / 640

position of stopcodon in wt / mu cDNA

2076 / 2076

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

157 / 157

chromosome

strand

-1

last intron/exon boundary

1804

theoretical NMD boundary in CDS

1597

length of CDS

1920

coding sequence (CDS) position

503

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

659

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

1109

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

51919949

original gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

original cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered cDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

wildtype AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT VLSFTPRPQD HNTDLTCHVD FSRKGVSAQR TVRLRVAYAP
RDLVISISRD NTPALEPQPQ GNVPYLEAQK GQFLRLLCAA DSQPPATLSW VLQNRVLSSS
HPWGPRPLGL ELPGVKAGDS GRYTCRAENR LGSQQRALDL SVQYPPENLR VMVSQANRTV
LENLGNGTSL PVLEGQSLCL VCVTHSSPPA RLSWTQRGQV LSPSQPSDPG VLELPRVQVE
HEGEFTCHAR HPLGSQHVSL SLSVHYSPKL LGPSCSWEAE GLHCSCSSQA SPAPSLRWWL
GEELLEGNSS QDSFEVTPSS AGPWANSSLS LHGGLSSGLR LRCEAWNVHG AQSGSILQLP
DKKGLISTAF SNGAFLGIGI TALLFLCLAL IIMKILPKRR TQTETPRPRF SRHSTILDYI
NVVPTAGPLA QKRNQKATPN SPRTPLPPGA PSPESKKNQK KQYQLPSFPE PKSSTQAPES
QESQEELHYA TLNFPGVRPR PEARMPKGTQ ADYAEVKFQ*

mutated AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT VLSFTPRPQD HNTDLTCHVD FSRKGVSVQR TVRLRVAYAP
RDLVISISRD NTPALEPQPQ GNVPYLEAQK GQFLRLLCAA DSQPPATLSW VLQNRVLSSS
HPWGPRPLGL ELPGVKAGDS GRYTCRAENR LGSQQRALDL SVQYPPENLR VMVSQANRTV
LENLGNGTSL PVLEGQSLCL VCVTHSSPPA RLSWTQRGQV LSPSQPSDPG VLELPRVQVE
HEGEFTCHAR HPLGSQHVSL SLSVHYSPKL LGPSCSWEAE GLHCSCSSQA SPAPSLRWWL
GEELLEGNSS QDSFEVTPSS AGPWANSSLS LHGGLSSGLR LRCEAWNVHG AQSGSILQLP
DKKGLISTAF SNGAFLGIGI TALLFLCLAL IIMKILPKRR TQTETPRPRF SRHSTILDYI
NVVPTAGPLA QKRNQKATPN SPRTPLPPGA PSPESKKNQK KQYQLPSFPE PKSSTQAPES
QESQEELHYA TLNFPGVRPR PEARMPKGTQ ADYAEVKFQ*

speed

0.71 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999901048844217 (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)

chr19:51919949G>AN/A show variant in all transcripts IGV

HGNC symbol

SIGLEC10

Ensembl transcript ID

ENST00000432469

Genbank transcript ID

NM_001171160

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.1109C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs9304711

database	homozygous (A/A)	heterozygous	allele carriers
1000G	252	853	1105
ExAC	4950	22289	27239

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.296	0
	1.485	0.002
(flanking)	-0.256	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	1114	wt: 0.9084 / mu: 0.9130 (marginal change - not scored)	wt: CACAGAGGACCGTCC mu: TACAGAGGACCGTCC	CAGA\|ggac
Donor marginally increased	1109	wt: 0.3728 / mu: 0.3755 (marginal change - not scored)	wt: GAGCGCACAGAGGAC mu: GAGCGTACAGAGGAC	GCGC\|acag

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

223 / 223

chromosome

strand

-1

last intron/exon boundary

1510

theoretical NMD boundary in CDS

1237

length of CDS

1560

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)

1109

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

51919949

original gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC

altered gDNA sequence snippet

CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKTVRLR VAYAPRDLVI SISRDNTPAL EPQPQGNVPY
LEAQKGQFLR LLCAADSQPP ATLSWVLQNR VLSSSHPWGP RPLGLELPGV KAGDSGRYTC
RAENRLGSQQ RALDLSVQYP PENLRVMVSQ ANRTVLENLG NGTSLPVLEG QSLCLVCVTH
SSPPARLSWT QRGQVLSPSQ PSDPGVLELP RVQVEHEGEF TCHARHPLGS QHVSLSLSVH
YKKGLISTAF SNGAFLGIGI TALLFLCLAL IIMKILPKRR TQTETPRPRF SRHSTILDYI
NVVPTAGPLA QKRNQKATPN SPRTPLPPGA PSPESKKNQK KQYQLPSFPE PKSSTQAPES
QESQEELHYA TLNFPGVRPR PEARMPKGTQ ADYAEVKFQ*

mutated AA sequence

N/A

speed

0.71 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