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: ENST00000312465
Querying Taster for transcript #2: ENST00000456523
MT speed 0.05 s - this script 2.439346 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
ENST00000312465(MANE Select)	FGF5	Deleterious	92\|8	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000456523	FGF5	Deleterious	183\|17	without_aae		No				Single base exchange		N/A

MutationT@ster 2025

Variant:

4:80274921T>C_1_ENST00000312465

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 92|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:80274921T>C (GRCh38)

Gene symbol

FGF5

Gene constraints

LOEUF: 1.42, LOF (oe): 0.93, misssense (oe): 1.00, synonymous (oe): 1.22 ? (gnomAD)

Ensembl transcript ID

ENST00000312465.12

Genbank transcript ID

NM_004464 (exact from MANE)

UniProt / AlphaMissense peptide

FGF5_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.368T>C
g.8283T>C

AA changes

AAE:	I123T	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1342779633
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	9	9

Protein conservation

Species	Match	AA	Alignment
Human		123	S	H	E	A	N	M	L	S	V	L	E	I	F	A	V	S	Q	G	I	V	G	I	R	G
mutated	not conserved	123										L	E	T	F	A	V	S	Q	G	I	V	G	I	R
Ptroglodytes	all identical	123										L	E	I	F	A	V	S	Q	G	I	V	G	I	R
Mmulatta	all identical	123										L	E	I	F	A	V	S	Q	G	I	V	G	I	R
Fcatus	no alignment	n/a
Mmusculus	all identical	121									I	L	E	I	F	A	V	S	Q	G	I	V	G	I	R
Ggallus	all identical	142	A	H	A	A	S	P	L	S	V	L	E	I	F	A	V	S	Q	G	I	V	G	I	R
Trubripes	all conserved	76												L	F	A	V	S	Q	G	V	I	G	I	K
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	106											E	I	F	A	V	S	Q	G	I	V	G	I	R

Protein features

Start (aa)	End (aa)	Feature	Details
21	268	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.27	1
	7.314	1
(flanking)	1.815	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

13

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

CATCCTAGGTGTTTTGGAAATATTTGCTGTGTCTCAGGGGA

Altered gDNA sequence snippet

CATCCTAGGTGTTTTGGAAACATTTGCTGTGTCTCAGGGGA

Original cDNA sequence snippet

TATGTTAAGTGTTTTGGAAATATTTGCTGTGTCTCAGGGGA

Altered cDNA sequence snippet

TATGTTAAGTGTTTTGGAAACATTTGCTGTGTCTCAGGGGA

Wildtype AA sequence

MSLSFLLLLF FSHLILSAWA HGEKRLAPKG QPGPAATDRN PRGSSSRQSS SSAMSSSSAS
SSPAASLGSQ GSGLEQSSFQ WSPSGRRTGS LYCRVGIGFH LQIYPDGKVN GSHEANMLSV
LEIFAVSQGI VGIRGVFSNK FLAMSKKGKL HASAKFTDDC KFRERFQENS YNTYASAIHR
TEKTGREWYV ALNKRGKAKR GCSPRVKPQH ISTHFLPRFK QSEQPELSFT VTVPEKKKPP
SPIKPKIPLS APRKNTNSVK YRLKFRFG*

Mutated AA sequence

MSLSFLLLLF FSHLILSAWA HGEKRLAPKG QPGPAATDRN PRGSSSRQSS SSAMSSSSAS
SSPAASLGSQ GSGLEQSSFQ WSPSGRRTGS LYCRVGIGFH LQIYPDGKVN GSHEANMLSV
LETFAVSQGI VGIRGVFSNK FLAMSKKGKL HASAKFTDDC KFRERFQENS YNTYASAIHR
TEKTGREWYV ALNKRGKAKR GCSPRVKPQH ISTHFLPRFK QSEQPELSFT VTVPEKKKPP
SPIKPKIPLS APRKNTNSVK YRLKFRFG*

Position of stopcodon in wt / mu CDS

807 / 807

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

269 / 269

Position of stopcodon in wt / mu cDNA

968 / 968

Position of start ATG in wt / mu cDNA

162 / 162

Last intron/exon boundary

620

Theoretical NMD boundary in CDS

408

Length of CDS

807

Coding sequence (CDS) position

368

cDNA position

529

gDNA position

8283

Chromosomal position

80274921

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:

4:80274921T>C_2_ENST00000456523

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 183|17 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:80274921T>C (GRCh38)

Gene symbol

FGF5

Gene constraints

LOEUF: 1.85, LOF (oe): 1.26, misssense (oe): 0.96, synonymous (oe): 1.24 ? (gnomAD)

Ensembl transcript ID

ENST00000456523.3

Genbank transcript ID

NM_033143 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.355+7742T>C
g.8283T>C

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	rs1342779633
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	9	9

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.27	1
	7.314	1
(flanking)	1.815	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

CATCCTAGGTGTTTTGGAAATATTTGCTGTGTCTCAGGGGA

Altered gDNA sequence snippet

CATCCTAGGTGTTTTGGAAACATTTGCTGTGTCTCAGGGGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLSFLLLLF FSHLILSAWA HGEKRLAPKG QPGPAATDRN PRGSSSRQSS SSAMSSSSAS
SSPAASLGSQ GSGLEQSSFQ WSPSGRRTGS LYCRVGIGFH LQIYPDGKVN GSHEANMLSQ
VHR*

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

187 / 187

Last intron/exon boundary

541

Theoretical NMD boundary in CDS

304

Length of CDS

372

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

8283

Chromosomal position

80274921

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