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: ENST00000699946
Querying Taster for transcript #2: ENST00000336123
MT speed 0.13 s - this script 2.569131 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000699946	IL17F	Benign	12\|88	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000336123(MANE Select)	IL17F	Benign	29\|71	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

6:52236941T>C_1_ENST00000699946

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Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 12|88 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:52236941T>C (GRCh38)

Gene symbol

IL17F

Gene constraints

no data

Ensembl transcript ID

ENST00000699946.1

Genbank transcript ID

UniProt / AlphaMissense peptide

IL17F_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.482A>G
g.8749A>G

AA changes

AAE:	H161R	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs763780
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	2997	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		161	V	G	C	T	C	V	T	P	V	I	H	H	V	Q	*
mutated	not conserved	161	V	G	C	T	C	V	T	P	V	I	H	R	V	Q
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
31	163	CHAIN		lost
159	161	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-3.473	0
	0.761	0
(flanking)	-0.022	0

?

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

6

Strand

-1

Original gDNA sequence snippet

CGTCACCCCTGTCATCCACCATGTGCAGTAAGAGGTGCATA

Altered gDNA sequence snippet

CGTCACCCCTGTCATCCACCGTGTGCAGTAAGAGGTGCATA

Original cDNA sequence snippet

CGTCACCCCTGTCATCCACCATGTGCAGTAAGAGGTGCATA

Altered cDNA sequence snippet

CGTCACCCCTGTCATCCACCGTGTGCAGTAAGAGGTGCATA

Wildtype AA sequence

MTVKTLHGPA MVKYLLLSIL GLAFLSEAAA RKIPKVGHTF FQKPESCPPV PGGSMKLDIG
IINENQRVSM SRNIESRSTS PWNYTVTWDP NRYPSEVVQA QCRNLGCINA QGKEDISMNS
VPIQQETLVV RRKHQGCSVS FQLEKVLVTV GCTCVTPVIH HVQ*

Mutated AA sequence

MTVKTLHGPA MVKYLLLSIL GLAFLSEAAA RKIPKVGHTF FQKPESCPPV PGGSMKLDIG
IINENQRVSM SRNIESRSTS PWNYTVTWDP NRYPSEVVQA QCRNLGCINA QGKEDISMNS
VPIQQETLVV RRKHQGCSVS FQLEKVLVTV GCTCVTPVIH RVQ*

Position of stopcodon in wt / mu CDS

492 / 492

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

164 / 164

Position of stopcodon in wt / mu cDNA

629 / 629

Position of start ATG in wt / mu cDNA

138 / 138

Last intron/exon boundary

391

Theoretical NMD boundary in CDS

203

Length of CDS

492

Coding sequence (CDS) position

482

cDNA position

619

gDNA position

8749

Chromosomal position

52236941

Speed

0.07 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:

6:52236941T>C_2_ENST00000336123

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Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 29|71 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:52236941T>C (GRCh38)

Gene symbol

IL17F

Gene constraints

LOEUF: 1.11, LOF (oe): 0.65, misssense (oe): 0.93, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000336123.5

Genbank transcript ID

NM_052872 (exact from MANE)

UniProt / AlphaMissense peptide

IL17F_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.482A>G
g.8749A>G

AA changes

AAE:	H161R	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs763780
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	2997	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		161	V	G	C	T	C	V	T	P	V	I	H	H	V	Q	*
mutated	not conserved	161	V	G	C	T	C	V	T	P	V	I	H	R	V	Q
Ptroglodytes	all identical	197	V	G	C	T	C	V	T	P	V	I	H	H	V	Q
Mmulatta	all identical	161	V	G	C	T	C	V	T	P	V	V	H	H	V	Q
Fcatus	all conserved	154	V	G	C	T	C	V	T	P	I	V	R	Y	V	R
Mmusculus	no alignment	n/a
Ggallus	all identical	336	V	G	C	T	C	A	A	P	V	I	Q	H
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no alignment	n/a
Xtropicalis	not conserved	483	V	G	C	T	C	V	R	P	E	V	K	E	Q	Q

Protein features

Start (aa)	End (aa)	Feature	Details
31	163	CHAIN		lost
159	161	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-3.473	0
	0.761	0
(flanking)	-0.022	0

?

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

6

Strand

-1

Original gDNA sequence snippet

CGTCACCCCTGTCATCCACCATGTGCAGTAAGAGGTGCATA

Altered gDNA sequence snippet

CGTCACCCCTGTCATCCACCGTGTGCAGTAAGAGGTGCATA

Original cDNA sequence snippet

CGTCACCCCTGTCATCCACCATGTGCAGTAAGAGGTGCATA

Altered cDNA sequence snippet

CGTCACCCCTGTCATCCACCGTGTGCAGTAAGAGGTGCATA

Wildtype AA sequence

MTVKTLHGPA MVKYLLLSIL GLAFLSEAAA RKIPKVGHTF FQKPESCPPV PGGSMKLDIG
IINENQRVSM SRNIESRSTS PWNYTVTWDP NRYPSEVVQA QCRNLGCINA QGKEDISMNS
VPIQQETLVV RRKHQGCSVS FQLEKVLVTV GCTCVTPVIH HVQ*

Mutated AA sequence

MTVKTLHGPA MVKYLLLSIL GLAFLSEAAA RKIPKVGHTF FQKPESCPPV PGGSMKLDIG
IINENQRVSM SRNIESRSTS PWNYTVTWDP NRYPSEVVQA QCRNLGCINA QGKEDISMNS
VPIQQETLVV RRKHQGCSVS FQLEKVLVTV GCTCVTPVIH RVQ*

Position of stopcodon in wt / mu CDS

492 / 492

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

164 / 164

Position of stopcodon in wt / mu cDNA

563 / 563

Position of start ATG in wt / mu cDNA

72 / 72

Last intron/exon boundary

325

Theoretical NMD boundary in CDS

203

Length of CDS

492

Coding sequence (CDS) position

482

cDNA position

553

gDNA position

8749

Chromosomal position

52236941

Speed

0.06 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