MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000285071
MT speed 0.12 s - this script 2.523044 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
ENST00000285071(MANE Select)	FLCN	Deleterious	79\|21	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

17:17216395G>A_1_ENST00000285071

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 79|21 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:17216395G>A (GRCh38)

Gene symbol

FLCN

Gene constraints

LOEUF: 0.49, LOF (oe): 0.34, misssense (oe): 0.81, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000285071.9

Genbank transcript ID

NM_144997 (exact from MANE), NM_001353231 (by similarity), NM_001353230 (by similarity), NM_001353229 (by similarity)

UniProt / AlphaMissense peptide

FLCN_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1285C>T
g.20794C>T

AA changes

AAE:	H429Y	?
Score:	83

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs375082054
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	33	33

Protein conservation

Species	Match	AA	Alignment
Human		429	L	G	L	S	P	H	V	Q	I	P	P	H	V	L	S	S	E	F	A	V	I	V	E	V
mutated	all conserved	429				S	P	H	V	Q	I	P	P	Y	V	L	S	S	E	F	A	V	I	V	E
Ptroglodytes	all identical	429				S	P	H	V	Q	I	P	P	H	V	L	S	S	E	F	A	V	I	V	E
Mmulatta	all identical	530				S	P	H	V	Q	I	P	P	H	V	L	S	S	E	F	A	V	I	V	E
Fcatus	all identical	429				S	P	H	V	Q	I	P	S	H	V	L	S	S	E	F	A	V	V	V	E
Mmusculus	all identical	429				S	P	P	V	P	I	P	A	H	V	L	A	S	E	F	V	V	V	V	E
Ggallus	all identical	429		G	L	S	P	H	V	Q	I	P	S	H	I	L	S	S	E	F	A	V	L	V	E
Trubripes	all identical	416	L	G	L	S	P	D	V	P	I	P	T	H	V	S	S	S	E	F	S	V	L	V	D
Drerio	no homologue
Dmelanogaster	not conserved	354	K	I	I	S	-	-	-	-	-	-	-	-	-	V	S	N	D	I	A	V	-	-	-
Celegans	not conserved	486	I	G	G	P	H	N	M	D	I	P	L	E	V	-	-	S	D	V	M	V	F	-	-
Xtropicalis	all identical	429		G	L	S	P	Q	A	E	I	P	L	H	V	Q	S	S	E	F	S	V	M	V	D

Protein features

Start (aa)	End (aa)	Feature	Details
1	579	CHAIN		lost
339	491	DOMAIN	cDENN FLCN/SMCR8-type	lost
428	431	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.325	1
	7.284	1
(flanking)	0.019	0.952

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

16

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

CGCACGTGCAGATCCCCCCCCACGTGCTCTCCTCAGGTGCG

Altered gDNA sequence snippet

CGCACGTGCAGATCCCCCCCTACGTGCTCTCCTCAGGTGCG

Original cDNA sequence snippet

CGCACGTGCAGATCCCCCCCCACGTGCTCTCCTCAGAGTTT

Altered cDNA sequence snippet

CGCACGTGCAGATCCCCCCCTACGTGCTCTCCTCAGAGTTT

Wildtype AA sequence

MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG GIQMNSRMRA
HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK ETSIKYVSHQ HPSHPQLFSI
VRQACVRSLS CEVCPGREGP IFFGDEQHGF VFSHTFFIKD SLARGFQRWY SIITIMMDRI
YLINSWPFLL GKVRGIIDEL QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS
LTSLTSDDNL WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEKLA DLEEESESWD
NSEAEEEEKA PVLPESTEGR ELTQGPAESS SLSGCGSWQP RKLPVFKSLR HMRQVLGAPS
FRMLAWHVLM GNQVIWKSRD VDLVQSAFEV LRTMLPVGCV RIIPYSSQYE EAYRCNFLGL
SPHVQIPPHV LSSEFAVIVE VHAAARSTLH PVGCEDDQSL SKYEFVVTSG SPVAADRVGP
TILNKIEAAL TNQNLSVDVV DQCLVCLKEE WMNKVKVLFK FTKVDSRPKE DTQKLLSILG
ASEEDNVKLL KFWMTGLSKT YKSHLMSTVR SPTASESRN*

Mutated AA sequence

MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG GIQMNSRMRA
HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK ETSIKYVSHQ HPSHPQLFSI
VRQACVRSLS CEVCPGREGP IFFGDEQHGF VFSHTFFIKD SLARGFQRWY SIITIMMDRI
YLINSWPFLL GKVRGIIDEL QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS
LTSLTSDDNL WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEKLA DLEEESESWD
NSEAEEEEKA PVLPESTEGR ELTQGPAESS SLSGCGSWQP RKLPVFKSLR HMRQVLGAPS
FRMLAWHVLM GNQVIWKSRD VDLVQSAFEV LRTMLPVGCV RIIPYSSQYE EAYRCNFLGL
SPHVQIPPYV LSSEFAVIVE VHAAARSTLH PVGCEDDQSL SKYEFVVTSG SPVAADRVGP
TILNKIEAAL TNQNLSVDVV DQCLVCLKEE WMNKVKVLFK FTKVDSRPKE DTQKLLSILG
ASEEDNVKLL KFWMTGLSKT YKSHLMSTVR SPTASESRN*

Position of stopcodon in wt / mu CDS

1740 / 1740

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

580 / 580

Position of stopcodon in wt / mu cDNA

2224 / 2224

Position of start ATG in wt / mu cDNA

485 / 485

Last intron/exon boundary

2022

Theoretical NMD boundary in CDS

1487

Length of CDS

1740

Coding sequence (CDS) position

1285

cDNA position

1769

gDNA position

20794

Chromosomal position

17216395

Speed

0.12 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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