MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000698351
Querying Taster for transcript #2: ENST00000296795
Querying Taster for transcript #3: ENST00000698354
Querying Taster for transcript #4: ENST00000512264
Querying Taster for transcript #5: ENST00000504367
Querying Taster for transcript #6: ENST00000508051
MT speed 0.2 s - this script 2.63959 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000296795(MANE Select)	TLR3	Deleterious	84\|16	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000504367	TLR3	Deleterious	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000698354	TLR3	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000512264	TLR3	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000508051	TLR3	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000698351	TLR3	Deleterious	173\|27	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD

MutationT@ster 2025

Variant:

4:186083346C>T_2_ENST00000296795

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 84|16 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:186083346C>T (GRCh38)

Gene symbol

TLR3

Gene constraints

LOEUF: 0.80, LOF (oe): 0.61, misssense (oe): 0.89, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000296795.8

Genbank transcript ID

NM_003265 (exact from MANE)

UniProt / AlphaMissense peptide

TLR3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1660C>T
g.14436C>T

AA changes

AAE:	P554S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs121434431
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2	821	823

Protein conservation

Species	Match	AA	Alignment
Human		554	A	R	L	W	K	H	A	N	P	G	G	P	I	Y	F	L	K	G	L	S	H	L	H	I
mutated	not conserved	554	A	R	L	W	K	H	A	N	P	G	G	S	I	Y	F	L	K	G	L	S	H	L	H
Ptroglodytes	all identical	554	A	R	L	W	K	H	A	N	P	G	G	P	V	Y	F	L	K	G	L	S	H	L	H
Mmulatta	all identical	554	A	R	L	W	K	H	A	N	P	G	G	P	V	Y	F	L	K	G	L	S	H	L	H
Fcatus	all identical	554	A	R	L	W	K	R	A	N	P	S	G	P	V	Y	F	L	K	G	L	S	H	L	H
Mmusculus	all identical	555						R	A	N	P	G	G	P	V	N	F	L	K	G	L	S	H	L	H
Ggallus	all identical	443	A	R	L	W	K	C	A	N	P	G	G	P	V	L	F	L	K	D	V	P	N	L	H
Trubripes	not conserved	1569	N	Y	FP	W	E	N	-	-	-	-	-	-	-	-
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
24	704	TOPO_DOM	Lumenal	lost
24	904	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.951	0.025
	6.15	1
(flanking)	7.905	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered gDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Original cDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered cDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Wildtype AA sequence

MRQTLPCIYF WGGLLPFGML CASSTTKCTV SHEVADCSHL KLTQVPDDLP TNITVLNLTH
NQLRRLPAAN FTRYSQLTSL DVGFNTISKL EPELCQKLPM LKVLNLQHNE LSQLSDKTFA
FCTNLTELHL MSNSIQKIKN NPFVKQKNLI TLDLSHNGLS STKLGTQVQL ENLQELLLSN
NKIQALKSEE LDIFANSSLK KLELSSNQIK EFSPGCFHAI GRLFGLFLNN VQLGPSLTEK
LCLELANTSI RNLSLSNSQL STTSNTTFLG LKWTNLTMLD LSYNNLNVVG NDSFAWLPQL
EYFFLEYNNI QHLFSHSLHG LFNVRYLNLK RSFTKQSISL ASLPKIDDFS FQWLKCLEHL
NMEDNDIPGI KSNMFTGLIN LKYLSLSNSF TSLRTLTNET FVSLAHSPLH ILNLTKNKIS
KIESDAFSWL GHLEVLDLGL NEIGQELTGQ EWRGLENIFE IYLSYNKYLQ LTRNSFALVP
SLQRLMLRRV ALKNVDSSPS PFQPLRNLTI LDLSNNNIAN INDDMLEGLE KLEILDLQHN
NLARLWKHAN PGGPIYFLKG LSHLHILNLE SNGFDEIPVE VFKDLFELKI IDLGLNNLNT
LPASVFNNQV SLKSLNLQKN LITSVEKKVF GPAFRNLTEL DMRFNPFDCT CESIAWFVNW
INETHTNIPE LSSHYLCNTP PHYHGFPVRL FDTSSCKDSA PFELFFMINT SILLIFIFIV
LLIHFEGWRI SFYWNVSVHR VLGFKEIDRQ TEQFEYAAYI IHAYKDKDWV WEHFSSMEKE
DQSLKFCLEE RDFEAGVFEL EAIVNSIKRS RKIIFVITHH LLKDPLCKRF KVHHAVQQAI
EQNLDSIILV FLEEIPDYKL NHALCLRRGM FKSHCILNWP VQKERIGAFR HKLQVALGSK
NSVH*

Mutated AA sequence

MRQTLPCIYF WGGLLPFGML CASSTTKCTV SHEVADCSHL KLTQVPDDLP TNITVLNLTH
NQLRRLPAAN FTRYSQLTSL DVGFNTISKL EPELCQKLPM LKVLNLQHNE LSQLSDKTFA
FCTNLTELHL MSNSIQKIKN NPFVKQKNLI TLDLSHNGLS STKLGTQVQL ENLQELLLSN
NKIQALKSEE LDIFANSSLK KLELSSNQIK EFSPGCFHAI GRLFGLFLNN VQLGPSLTEK
LCLELANTSI RNLSLSNSQL STTSNTTFLG LKWTNLTMLD LSYNNLNVVG NDSFAWLPQL
EYFFLEYNNI QHLFSHSLHG LFNVRYLNLK RSFTKQSISL ASLPKIDDFS FQWLKCLEHL
NMEDNDIPGI KSNMFTGLIN LKYLSLSNSF TSLRTLTNET FVSLAHSPLH ILNLTKNKIS
KIESDAFSWL GHLEVLDLGL NEIGQELTGQ EWRGLENIFE IYLSYNKYLQ LTRNSFALVP
SLQRLMLRRV ALKNVDSSPS PFQPLRNLTI LDLSNNNIAN INDDMLEGLE KLEILDLQHN
NLARLWKHAN PGGSIYFLKG LSHLHILNLE SNGFDEIPVE VFKDLFELKI IDLGLNNLNT
LPASVFNNQV SLKSLNLQKN LITSVEKKVF GPAFRNLTEL DMRFNPFDCT CESIAWFVNW
INETHTNIPE LSSHYLCNTP PHYHGFPVRL FDTSSCKDSA PFELFFMINT SILLIFIFIV
LLIHFEGWRI SFYWNVSVHR VLGFKEIDRQ TEQFEYAAYI IHAYKDKDWV WEHFSSMEKE
DQSLKFCLEE RDFEAGVFEL EAIVNSIKRS RKIIFVITHH LLKDPLCKRF KVHHAVQQAI
EQNLDSIILV FLEEIPDYKL NHALCLRRGM FKSHCILNWP VQKERIGAFR HKLQVALGSK
NSVH*

Position of stopcodon in wt / mu CDS

2715 / 2715

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

905 / 905

Position of stopcodon in wt / mu cDNA

2815 / 2815

Position of start ATG in wt / mu cDNA

101 / 101

Last intron/exon boundary

2586

Theoretical NMD boundary in CDS

2435

Length of CDS

2715

Coding sequence (CDS) position

1660

cDNA position

1760

gDNA position

14436

Chromosomal position

186083346

Speed

0.03 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

4:186083346C>T_5_ENST00000504367

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 96|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:186083346C>T (GRCh38)

Gene symbol

TLR3

Gene constraints

LOEUF: 0.82, LOF (oe): 0.59, misssense (oe): 0.88, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000504367.1

Genbank transcript ID

UniProt / AlphaMissense peptide

TLR3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.829C>T
g.14436C>T

AA changes

AAE:	P277S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs121434431
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2	821	823

Protein conservation

Species	Match	AA	Alignment
Human		277	A	R	L	W	K	H	A	N	P	G	G	P	I	Y	F	L	K	G	L	S	H	L	H	I
mutated	not conserved	277	A	R	L	W	K	H	A	N	P	G	G	S	I	Y	F	L	K	G	L	S	H	L	H
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
24	704	TOPO_DOM	Lumenal	lost
24	904	CHAIN		lost
275	296	REPEAT	LRR	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.951	0.025
	6.15	1
(flanking)	7.905	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered gDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Original cDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered cDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Wildtype AA sequence

MLDLSYNNLN VVGNDSFAWL PQLEYFFLEY NNIQHLFSHS LHGLFNVRYL NLKRSFTKQS
ISLASLPKID DFSFQWLKCL EHLNMEDNDI PGIKSNMFTG LINLKYLSLS NSFTSLRTLT
NETFVSLAHS PLHILNLTKN KISKIESDAF SWLGHLEVLD LGLNEIGQEL TGQEWRGLEN
IFEIYLSYNK YLQLTRNSFA LVPSLQRLML RRVALKNVDS SPSPFQPLRN LTILDLSNNN
IANINDDMLE GLEKLEILDL QHNNLARLWK HANPGGPIYF LKGLSHLHIL NLESNGFDEI
PVEVFKDLFE LKIIDLGLNN LNTLPASVFN NQVSLKSLNL QKNLITSVEK KVFGPAFRNL
TELDMRFNPF DCTCESIAWF VNWINETHTN IPELSSHYLC NTPPHYHGFP VRLFDTSSCK
DSAPFELFFM INTSILLIFI FIVLLIHFEG WRISFYWNVS VHRVLGFKEI DRQTEQFEYA
AYIIHAYKDK DWVWEHFSSM EKEDQSLKFC LEERDFEAGV FELEAIVNSI KRSRKIIFVI
THHLLKDPLC KRFKVHHAVQ QAIEQNLDSI ILVFLEEIPD YKLNHALCLR RGMFKSHCIL
NWPVQKERIG AFRHKLQVAL GSKNSVH*

Mutated AA sequence

MLDLSYNNLN VVGNDSFAWL PQLEYFFLEY NNIQHLFSHS LHGLFNVRYL NLKRSFTKQS
ISLASLPKID DFSFQWLKCL EHLNMEDNDI PGIKSNMFTG LINLKYLSLS NSFTSLRTLT
NETFVSLAHS PLHILNLTKN KISKIESDAF SWLGHLEVLD LGLNEIGQEL TGQEWRGLEN
IFEIYLSYNK YLQLTRNSFA LVPSLQRLML RRVALKNVDS SPSPFQPLRN LTILDLSNNN
IANINDDMLE GLEKLEILDL QHNNLARLWK HANPGGSIYF LKGLSHLHIL NLESNGFDEI
PVEVFKDLFE LKIIDLGLNN LNTLPASVFN NQVSLKSLNL QKNLITSVEK KVFGPAFRNL
TELDMRFNPF DCTCESIAWF VNWINETHTN IPELSSHYLC NTPPHYHGFP VRLFDTSSCK
DSAPFELFFM INTSILLIFI FIVLLIHFEG WRISFYWNVS VHRVLGFKEI DRQTEQFEYA
AYIIHAYKDK DWVWEHFSSM EKEDQSLKFC LEERDFEAGV FELEAIVNSI KRSRKIIFVI
THHLLKDPLC KRFKVHHAVQ QAIEQNLDSI ILVFLEEIPD YKLNHALCLR RGMFKSHCIL
NWPVQKERIG AFRHKLQVAL GSKNSVH*

Position of stopcodon in wt / mu CDS

1884 / 1884

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

628 / 628

Position of stopcodon in wt / mu cDNA

2294 / 2294

Position of start ATG in wt / mu cDNA

411 / 411

Last intron/exon boundary

2065

Theoretical NMD boundary in CDS

1604

Length of CDS

1884

Coding sequence (CDS) position

829

cDNA position

1239

gDNA position

14436

Chromosomal position

186083346

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

4:186083346C>T_3_ENST00000698354

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 99|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:186083346C>T (GRCh38)

Gene symbol

TLR3

Gene constraints

no data

Ensembl transcript ID

ENST00000698354.1

Genbank transcript ID

UniProt / AlphaMissense peptide

TLR3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.829C>T
g.14436C>T

AA changes

AAE:	P277S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs121434431
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2	821	823

Protein conservation

Species	Match	AA	Alignment
Human		277	A	R	L	W	K	H	A	N	P	G	G	P	I	Y	F	L	K	G	L	S	H	L	H	I
mutated	not conserved	277	A	R	L	W	K	H	A	N	P	G	G	S	I	Y	F	L	K	G	L	S	H	L	H
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
24	704	TOPO_DOM	Lumenal	lost
24	904	CHAIN		lost
275	296	REPEAT	LRR	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.951	0.025
	6.15	1
(flanking)	7.905	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered gDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Original cDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered cDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Wildtype AA sequence

MLDLSYNNLN VVGNDSFAWL PQLEYFFLEY NNIQHLFSHS LHGLFNVRYL NLKRSFTKQS
ISLASLPKID DFSFQWLKCL EHLNMEDNDI PGIKSNMFTG LINLKYLSLS NSFTSLRTLT
NETFVSLAHS PLHILNLTKN KISKIESDAF SWLGHLEVLD LGLNEIGQEL TGQEWRGLEN
IFEIYLSYNK YLQLTRNSFA LVPSLQRLML RRVALKNVDS SPSPFQPLRN LTILDLSNNN
IANINDDMLE GLEKLEILDL QHNNLARLWK HANPGGPIYF LKGLSHLHIL NLESNGFDEI
PVEVFKDLFE LKIIDLGLNN LNTLPASVFN NQVSLKSLNL QKNLITSVEK KVFGPAFRNL
TELDMRFNPF DCTCESIAWF VNWINETHTN IPELSSHYLC NTPPHYHGFP VRLFDTSSCK
DSAPFELFFM INTSILLIFI FIVLLIHFEG WRISFYWNVS VHRVLGFKEI DRQTEQFEYA
AYIIHAYKDK DWVWEHFSSM EKEDQSLKFC LEERDFEAGV FELEAIVNSI KRSRKIIFVI
THHLLKDPLC KRFKVHHAVQ QAIEQNLDSI ILVFLEEIPD YKLNHALCLR RGMFKSHCIL
NWPVQKERIG AFRHKLQVAL GSKNSVH*

Mutated AA sequence

MLDLSYNNLN VVGNDSFAWL PQLEYFFLEY NNIQHLFSHS LHGLFNVRYL NLKRSFTKQS
ISLASLPKID DFSFQWLKCL EHLNMEDNDI PGIKSNMFTG LINLKYLSLS NSFTSLRTLT
NETFVSLAHS PLHILNLTKN KISKIESDAF SWLGHLEVLD LGLNEIGQEL TGQEWRGLEN
IFEIYLSYNK YLQLTRNSFA LVPSLQRLML RRVALKNVDS SPSPFQPLRN LTILDLSNNN
IANINDDMLE GLEKLEILDL QHNNLARLWK HANPGGSIYF LKGLSHLHIL NLESNGFDEI
PVEVFKDLFE LKIIDLGLNN LNTLPASVFN NQVSLKSLNL QKNLITSVEK KVFGPAFRNL
TELDMRFNPF DCTCESIAWF VNWINETHTN IPELSSHYLC NTPPHYHGFP VRLFDTSSCK
DSAPFELFFM INTSILLIFI FIVLLIHFEG WRISFYWNVS VHRVLGFKEI DRQTEQFEYA
AYIIHAYKDK DWVWEHFSSM EKEDQSLKFC LEERDFEAGV FELEAIVNSI KRSRKIIFVI
THHLLKDPLC KRFKVHHAVQ QAIEQNLDSI ILVFLEEIPD YKLNHALCLR RGMFKSHCIL
NWPVQKERIG AFRHKLQVAL GSKNSVH*

Position of stopcodon in wt / mu CDS

1884 / 1884

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

628 / 628

Position of stopcodon in wt / mu cDNA

2218 / 2218

Position of start ATG in wt / mu cDNA

335 / 335

Last intron/exon boundary

1989

Theoretical NMD boundary in CDS

1604

Length of CDS

1884

Coding sequence (CDS) position

829

cDNA position

1163

gDNA position

14436

Chromosomal position

186083346

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

4:186083346C>T_4_ENST00000512264

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 99|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:186083346C>T (GRCh38)

Gene symbol

TLR3

Gene constraints

no data

Ensembl transcript ID

ENST00000512264.1

Genbank transcript ID

UniProt / AlphaMissense peptide

TLR3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.829C>T
g.14436C>T

AA changes

AAE:	P277S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs121434431
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2	821	823

Protein conservation

Species	Match	AA	Alignment
Human		277	A	R	L	W	K	H	A	N	P	G	G	P	I	Y	F	L	K	G	L	S	H	L	H	I
mutated	not conserved	277	A	R	L	W	K	H	A	N	P	G	G	S	I	Y	F	L	K	G	L	S	H	L	H
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
24	704	TOPO_DOM	Lumenal	lost
24	904	CHAIN		lost
275	296	REPEAT	LRR	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.951	0.025
	6.15	1
(flanking)	7.905	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered gDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Original cDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered cDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Wildtype AA sequence

MLDLSYNNLN VVGNDSFAWL PQLEYFFLEY NNIQHLFSHS LHGLFNVRYL NLKRSFTKQS
ISLASLPKID DFSFQWLKCL EHLNMEDNDI PGIKSNMFTG LINLKYLSLS NSFTSLRTLT
NETFVSLAHS PLHILNLTKN KISKIESDAF SWLGHLEVLD LGLNEIGQEL TGQEWRGLEN
IFEIYLSYNK YLQLTRNSFA LVPSLQRLML RRVALKNVDS SPSPFQPLRN LTILDLSNNN
IANINDDMLE GLEKLEILDL QHNNLARLWK HANPGGPIYF LKGLSHLHIL NLESNGFDEI
PVEVFKDLFE LKIIDLGLNN LNTLPASVFN NQVSLKSLNL QKNLITSVEK KVFGPAFRNL
TELDMRFNPF DCTCESIAWF VNWINETHTN IPELSSHYLC NTPPHYHGFP VRLFDTSSCK
DSAPFELFFM INTSILLIFI FIVLLIHFEG WRISFYWNVS VHRVLGFKEI DRQTEQFEYA
AYIIHAYKDK DWVWEHFSSM EKEDQSLKFC LEERDFEAGV FELEAIVNSI KRSRKIIFVI
THHLLKDPLC KRFKVHHAVQ QAIEQNLDSI ILVFLEEIPD YKLNHALCLR RGMFKSHCIL
NWPVQKERIG AFRHKLQVAL GSKNSVH*

Mutated AA sequence

MLDLSYNNLN VVGNDSFAWL PQLEYFFLEY NNIQHLFSHS LHGLFNVRYL NLKRSFTKQS
ISLASLPKID DFSFQWLKCL EHLNMEDNDI PGIKSNMFTG LINLKYLSLS NSFTSLRTLT
NETFVSLAHS PLHILNLTKN KISKIESDAF SWLGHLEVLD LGLNEIGQEL TGQEWRGLEN
IFEIYLSYNK YLQLTRNSFA LVPSLQRLML RRVALKNVDS SPSPFQPLRN LTILDLSNNN
IANINDDMLE GLEKLEILDL QHNNLARLWK HANPGGSIYF LKGLSHLHIL NLESNGFDEI
PVEVFKDLFE LKIIDLGLNN LNTLPASVFN NQVSLKSLNL QKNLITSVEK KVFGPAFRNL
TELDMRFNPF DCTCESIAWF VNWINETHTN IPELSSHYLC NTPPHYHGFP VRLFDTSSCK
DSAPFELFFM INTSILLIFI FIVLLIHFEG WRISFYWNVS VHRVLGFKEI DRQTEQFEYA
AYIIHAYKDK DWVWEHFSSM EKEDQSLKFC LEERDFEAGV FELEAIVNSI KRSRKIIFVI
THHLLKDPLC KRFKVHHAVQ QAIEQNLDSI ILVFLEEIPD YKLNHALCLR RGMFKSHCIL
NWPVQKERIG AFRHKLQVAL GSKNSVH*

Position of stopcodon in wt / mu CDS

1884 / 1884

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

628 / 628

Position of stopcodon in wt / mu cDNA

2791 / 2791

Position of start ATG in wt / mu cDNA

908 / 908

Last intron/exon boundary

2562

Theoretical NMD boundary in CDS

1604

Length of CDS

1884

Coding sequence (CDS) position

829

cDNA position

1736

gDNA position

14436

Chromosomal position

186083346

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

4:186083346C>T_6_ENST00000508051

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 99|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:186083346C>T (GRCh38)

Gene symbol

TLR3

Gene constraints

no data

Ensembl transcript ID

ENST00000508051.2

Genbank transcript ID

UniProt / AlphaMissense peptide

TLR3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.829C>T
g.14436C>T

AA changes

AAE:	P277S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs121434431
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2	821	823

Protein conservation

Species	Match	AA	Alignment
Human		277	A	R	L	W	K	H	A	N	P	G	G	P	I	Y	F	L	K	G	L	S	H	L	H	I
mutated	not conserved	277	A	R	L	W	K	H	A	N	P	G	G	S	I	Y	F	L	K	G	L	S	H	L	H
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
24	704	TOPO_DOM	Lumenal	lost
24	904	CHAIN		lost
275	296	REPEAT	LRR	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.951	0.025
	6.15	1
(flanking)	7.905	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered gDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Original cDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered cDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Wildtype AA sequence

MLDLSYNNLN VVGNDSFAWL PQLEYFFLEY NNIQHLFSHS LHGLFNVRYL NLKRSFTKQS
ISLASLPKID DFSFQWLKCL EHLNMEDNDI PGIKSNMFTG LINLKYLSLS NSFTSLRTLT
NETFVSLAHS PLHILNLTKN KISKIESDAF SWLGHLEVLD LGLNEIGQEL TGQEWRGLEN
IFEIYLSYNK YLQLTRNSFA LVPSLQRLML RRVALKNVDS SPSPFQPLRN LTILDLSNNN
IANINDDMLE GLEKLEILDL QHNNLARLWK HANPGGPIYF LKGLSHLHIL NLESNGFDEI
PVEVFKDLFE LKIIDLGLNN LNTLPASVFN NQVSLKSLNL QKNLITSVEK KVFGPAFRNL
TELDMRFNPF DCTCESIAWF VNWINETHTN IPELSSHYLC NTPPHYHGFP VRLFDTSSCK
DSAPFELFFM INTSILLIFI FIVLLIHFEG WRISFYWNVS VHRVLGFKEI DRQTEQFEYA
AYIIHAYKDK DWVWEHFSSM EKEDQSLKFC LEERDFEAGV FELEAIVNSI KRSRKIIFVI
THHLLKDPLC KRFKVHHAVQ QAIEQNLDSI ILVFLEEIPD YKLNHALCLR RGMFKSHCIL
NWPVQKERIG AFRHKLQVAL GSKNSVH*

Mutated AA sequence

MLDLSYNNLN VVGNDSFAWL PQLEYFFLEY NNIQHLFSHS LHGLFNVRYL NLKRSFTKQS
ISLASLPKID DFSFQWLKCL EHLNMEDNDI PGIKSNMFTG LINLKYLSLS NSFTSLRTLT
NETFVSLAHS PLHILNLTKN KISKIESDAF SWLGHLEVLD LGLNEIGQEL TGQEWRGLEN
IFEIYLSYNK YLQLTRNSFA LVPSLQRLML RRVALKNVDS SPSPFQPLRN LTILDLSNNN
IANINDDMLE GLEKLEILDL QHNNLARLWK HANPGGSIYF LKGLSHLHIL NLESNGFDEI
PVEVFKDLFE LKIIDLGLNN LNTLPASVFN NQVSLKSLNL QKNLITSVEK KVFGPAFRNL
TELDMRFNPF DCTCESIAWF VNWINETHTN IPELSSHYLC NTPPHYHGFP VRLFDTSSCK
DSAPFELFFM INTSILLIFI FIVLLIHFEG WRISFYWNVS VHRVLGFKEI DRQTEQFEYA
AYIIHAYKDK DWVWEHFSSM EKEDQSLKFC LEERDFEAGV FELEAIVNSI KRSRKIIFVI
THHLLKDPLC KRFKVHHAVQ QAIEQNLDSI ILVFLEEIPD YKLNHALCLR RGMFKSHCIL
NWPVQKERIG AFRHKLQVAL GSKNSVH*

Position of stopcodon in wt / mu CDS

1884 / 1884

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

628 / 628

Position of stopcodon in wt / mu cDNA

2312 / 2312

Position of start ATG in wt / mu cDNA

429 / 429

Last intron/exon boundary

2083

Theoretical NMD boundary in CDS

1604

Length of CDS

1884

Coding sequence (CDS) position

829

cDNA position

1257

gDNA position

14436

Chromosomal position

186083346

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

4:186083346C>T_1_ENST00000698351

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Prediction:

DeleteriousPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 173|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:186083346C>T (GRCh38)

Gene symbol

TLR3

Gene constraints

no data

Ensembl transcript ID

ENST00000698351.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.864+796C>T
g.14436C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs121434431
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2	821	823

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.951	0.025
	6.15	1
(flanking)	7.905	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

4

Strand

1

Original gDNA sequence snippet

AACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT

Altered gDNA sequence snippet

AACACGCAAACCCTGGTGGTTCCATTTATTTCCTAAAGGGT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRQTLPCIYF WGGLLPFGML CASSTTKCTV SHEVADCSHL KLTQVPDDLP TNITVLNLTH
NQLRRLPAAN FTRYSQLTSL DVGFNTISKL EPELCQKLPM LKVLNLQHNE LSQLSDKTFA
FCTNLTELHL MSNSIQKIKN NPFVKQKNLI TLDLSHNGLS STKLGTQVQL ENLQELLLSN
NKIQALKSEE LDIFANSSLK KLELSSNQIK EFSPGCFHAI GRLFGLFLNN VQLGPSLTEK
LCLELANTSI RNLSLSNSQL STTSNTTFLG LKWTNLTMLD LSYNNLNVIQ GTSCSSTSY*

Mutated AA sequence

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

Position of start ATG in wt / mu cDNA

346 / 346

Last intron/exon boundary

1209

Theoretical NMD boundary in CDS

813

Length of CDS

900

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

14436

Chromosomal position

186083346

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table