MutationT@ster 2025

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...
Querying Taster for transcript #1: ENST00000340107
Querying Taster for transcript #2: ENST00000440486
Querying Taster for transcript #3: ENST00000412135
Querying Taster for transcript #4: ENST00000481110
Querying Taster for transcript #5: ENST00000352904
MT speed 0.55 s - this script 3.001447 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000440486(MANE Select)	FGFR3	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000340107	FGFR3	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000352904	FGFR3	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000412135	FGFR3	Deleterious	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000481110	FGFR3	Deleterious	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

4:1801844C>A_2_ENST00000440486

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:1801844C>A (GRCh38)

Gene symbol

FGFR3

Gene constraints

LOEUF: 0.46, LOF (oe): 0.33, misssense (oe): 0.90, synonymous (oe): 1.26 ? (gnomAD)

Ensembl transcript ID

ENST00000440486.8

Genbank transcript ID

NM_000142 (exact from MANE), NM_001354809 (by similarity)

UniProt / AlphaMissense peptide

FGFR3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.749C>A
g.8552C>A

AA changes

AAE:	P250Q	?
Score:	76

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4647924
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		250	Q	T	Y	T	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A	N
mutated	not conserved	250			Y	T	L	D	V	L	E	R	S	Q	H	R	P	I	L	Q	A	G	L	P	A
Ptroglodytes	all identical	250			Y	T	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A
Mmulatta	all identical	250			Y	T	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A
Fcatus	all identical	247			Y	T	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A
Mmusculus	all identical	244			Y	T	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A
Ggallus	all identical	265												P	H	R	P	I	L	Q	A	G	L	P	A
Trubripes	all identical	286	H	T	Y	Q	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	266						D	V	L	E	R	S	S	H	R	P	I	L	Q	A	G	L	P	A

Protein features

Start (aa)	End (aa)	Feature	Details
23	375	TOPO_DOM	Extracellular	lost
23	806	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.842	1
	5.85	1
(flanking)	-1.046	0.012

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

10

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Original cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Wildtype AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*

Mutated AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSQ HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*

Position of stopcodon in wt / mu CDS

2421 / 2421

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

807 / 807

Position of stopcodon in wt / mu cDNA

2696 / 2696

Position of start ATG in wt / mu cDNA

276 / 276

Last intron/exon boundary

2549

Theoretical NMD boundary in CDS

2223

Length of CDS

2421

Coding sequence (CDS) position

749

cDNA position

1024

gDNA position

8552

Chromosomal position

1801844

Speed

0.10 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:

4:1801844C>A_1_ENST00000340107

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:1801844C>A (GRCh38)

Gene symbol

FGFR3

Gene constraints

LOEUF: 0.57, LOF (oe): 0.42, misssense (oe): 0.92, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000340107.9

Genbank transcript ID

NM_001163213 (by similarity)

UniProt / AlphaMissense peptide

FGFR3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.749C>A
g.8552C>A

AA changes

AAE:	P250Q	?
Score:	76

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4647924
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		250	Q	T	Y	T	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A	N
mutated	not conserved	250			Y	T	L	D	V	L	E	R	S	Q	H	R	P	I	L	Q	A	G	L	P	A
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
23	375	TOPO_DOM	Extracellular	lost
23	806	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.842	1
	5.85	1
(flanking)	-1.046	0.012

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

10

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Original cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Wildtype AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK SWISESVEAD VRLRLANVSE RDGGEYLCRA TNFIGVAEKA FWLSVHGPRA
AEEELVEADE AGSVYAGILS YGVGFFLFIL VVAAVTLCRL RSPPKKGLGS PTVHKISRFP
LKRQVSLESN ASMSSNTPLV RIARLSSGEG PTLANVSELE LPADPKWELS RARLTLGKPL
GEGCFGQVVM AEAIGIDKDR AAKPVTVAVK MLKDDATDKD LSDLVSEMEM MKMIGKHKNI
INLLGACTQG GPLYVLVEYA AKGNLREFLR ARRPPGLDYS FDTCKPPEEQ LTFKDLVSCA
YQVARGMEYL ASQKCIHRDL AARNVLVTED NVMKIADFGL ARDVHNLDYY KKTTNGRLPV
KWMAPEALFD RVYTHQSDVW SFGVLLWEIF TLGGSPYPGI PVEELFKLLK EGHRMDKPAN
CTHDLYMIMR ECWHAAPSQR PTFKQLVEDL DRVLTVTSTD EYLDLSAPFE QYSPGGQDTP
SSSSSGDDSV FAHDLLPPAP PSSGGSRT*

Mutated AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSQ HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK SWISESVEAD VRLRLANVSE RDGGEYLCRA TNFIGVAEKA FWLSVHGPRA
AEEELVEADE AGSVYAGILS YGVGFFLFIL VVAAVTLCRL RSPPKKGLGS PTVHKISRFP
LKRQVSLESN ASMSSNTPLV RIARLSSGEG PTLANVSELE LPADPKWELS RARLTLGKPL
GEGCFGQVVM AEAIGIDKDR AAKPVTVAVK MLKDDATDKD LSDLVSEMEM MKMIGKHKNI
INLLGACTQG GPLYVLVEYA AKGNLREFLR ARRPPGLDYS FDTCKPPEEQ LTFKDLVSCA
YQVARGMEYL ASQKCIHRDL AARNVLVTED NVMKIADFGL ARDVHNLDYY KKTTNGRLPV
KWMAPEALFD RVYTHQSDVW SFGVLLWEIF TLGGSPYPGI PVEELFKLLK EGHRMDKPAN
CTHDLYMIMR ECWHAAPSQR PTFKQLVEDL DRVLTVTSTD EYLDLSAPFE QYSPGGQDTP
SSSSSGDDSV FAHDLLPPAP PSSGGSRT*

Position of stopcodon in wt / mu CDS

2427 / 2427

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

809 / 809

Position of stopcodon in wt / mu cDNA

2702 / 2702

Position of start ATG in wt / mu cDNA

276 / 276

Last intron/exon boundary

2555

Theoretical NMD boundary in CDS

2229

Length of CDS

2427

Coding sequence (CDS) position

749

cDNA position

1024

gDNA position

8552

Chromosomal position

1801844

Speed

0.11 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:

4:1801844C>A_5_ENST00000352904

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr4:1801844C>A (GRCh38)

Gene symbol

FGFR3

Gene constraints

LOEUF: 0.51, LOF (oe): 0.36, misssense (oe): 0.87, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000352904.6

Genbank transcript ID

NM_022965 (by similarity)

UniProt / AlphaMissense peptide

FGFR3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.749C>A
g.8552C>A

AA changes

AAE:	P250Q	?
Score:	76

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4647924
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		250	Q	T	Y	T	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A	N
mutated	not conserved	250			Y	T	L	D	V	L	E	R	S	Q	H	R	P	I	L	Q	A	G	L	P	A
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
23	375	TOPO_DOM	Extracellular	lost
23	806	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.842	1
	5.85	1
(flanking)	-1.046	0.012

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

10

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Original cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Wildtype AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*

Mutated AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSQ HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*

Position of stopcodon in wt / mu CDS

2085 / 2085

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

695 / 695

Position of stopcodon in wt / mu cDNA

2124 / 2124

Position of start ATG in wt / mu cDNA

40 / 40

Last intron/exon boundary

1977

Theoretical NMD boundary in CDS

1887

Length of CDS

2085

Coding sequence (CDS) position

749

cDNA position

788

gDNA position

8552

Chromosomal position

1801844

Speed

0.10 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:

4:1801844C>A_3_ENST00000412135

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

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

Analysed issue

Analysis result

Variant

Chr4:1801844C>A (GRCh38)

Gene symbol

FGFR3

Gene constraints

LOEUF: 0.43, LOF (oe): 0.30, misssense (oe): 0.90, synonymous (oe): 1.26 ? (gnomAD)

Ensembl transcript ID

ENST00000412135.7

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.737C>A
g.8552C>A

AA changes

AAE:	P246Q	?
Score:	76

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4647924
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		246	Q	T	Y	T	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A	N
mutated	not conserved	246							V	L	E	R	S	Q	H	R	P	I	L	Q	A	G	L	P	A
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.842	1
	5.85	1
(flanking)	-1.046	0.012

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

10

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Original cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Wildtype AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGAPYWT RPERMDKKLL AVPAANTVRF RCPAAGNPTP
SISWLKNGRE FRGEHRIGGI KLRHQQWSLV MESVVPSDRG NYTCVVENKF GSIRQTYTLD
VLERSPHRPI LQAGLPANQT AVLGSDVEFH CKVYSDAQPH IQWLKHVEVN GSKVGPDGTP
YVTVLKTAGA NTTDKELEVL SLHNVTFEDA GEYTCLAGNS IGFSHHSAWL VVLPAEEELV
EADEAGSVYA GILSYGVGFF LFILVVAAVT LCRLRSPPKK GLGSPTVHKI SRFPLKRQVS
LESNASMSSN TPLVRIARLS SGEGPTLANV SELELPADPK WELSRARLTL GKPLGEGCFG
QVVMAEAIGI DKDRAAKPVT VAVKMLKDDA TDKDLSDLVS EMEMMKMIGK HKNIINLLGA
CTQGGPLYVL VEYAAKGNLR EFLRARRPPG LDYSFDTCKP PEEQLTFKDL VSCAYQVARG
MEYLASQKCI HRDLAARNVL VTEDNVMKIA DFGLARDVHN LDYYKKTTNG RLPVKWMAPE
ALFDRVYTHQ SDVWSFGVLL WEIFTLGGSP YPGIPVEELF KLLKEGHRMD KPANCTHDLY
MIMRECWHAA PSQRPTFKQL VEDLDRVLTV TSTDEYLDLS APFEQYSPGG QDTPSSSSSG
DDSVFAHDLL PPAPPSSGGS RT*

Mutated AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGAPYWT RPERMDKKLL AVPAANTVRF RCPAAGNPTP
SISWLKNGRE FRGEHRIGGI KLRHQQWSLV MESVVPSDRG NYTCVVENKF GSIRQTYTLD
VLERSQHRPI LQAGLPANQT AVLGSDVEFH CKVYSDAQPH IQWLKHVEVN GSKVGPDGTP
YVTVLKTAGA NTTDKELEVL SLHNVTFEDA GEYTCLAGNS IGFSHHSAWL VVLPAEEELV
EADEAGSVYA GILSYGVGFF LFILVVAAVT LCRLRSPPKK GLGSPTVHKI SRFPLKRQVS
LESNASMSSN TPLVRIARLS SGEGPTLANV SELELPADPK WELSRARLTL GKPLGEGCFG
QVVMAEAIGI DKDRAAKPVT VAVKMLKDDA TDKDLSDLVS EMEMMKMIGK HKNIINLLGA
CTQGGPLYVL VEYAAKGNLR EFLRARRPPG LDYSFDTCKP PEEQLTFKDL VSCAYQVARG
MEYLASQKCI HRDLAARNVL VTEDNVMKIA DFGLARDVHN LDYYKKTTNG RLPVKWMAPE
ALFDRVYTHQ SDVWSFGVLL WEIFTLGGSP YPGIPVEELF KLLKEGHRMD KPANCTHDLY
MIMRECWHAA PSQRPTFKQL VEDLDRVLTV TSTDEYLDLS APFEQYSPGG QDTPSSSSSG
DDSVFAHDLL PPAPPSSGGS RT*

Position of stopcodon in wt / mu CDS

2409 / 2409

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

803 / 803

Position of stopcodon in wt / mu cDNA

2684 / 2684

Position of start ATG in wt / mu cDNA

276 / 276

Last intron/exon boundary

2537

Theoretical NMD boundary in CDS

2211

Length of CDS

2409

Coding sequence (CDS) position

737

cDNA position

1012

gDNA position

8552

Chromosomal position

1801844

Speed

0.13 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:

4:1801844C>A_4_ENST00000481110

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

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

Analysed issue

Analysis result

Variant

Chr4:1801844C>A (GRCh38)

Gene symbol

FGFR3

Gene constraints

LOEUF: 0.55, LOF (oe): 0.40, misssense (oe): 0.94, synonymous (oe): 1.23 ? (gnomAD)

Ensembl transcript ID

ENST00000481110.7

Genbank transcript ID

NM_001354810 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.749C>A
g.8552C>A

AA changes

AAE:	P250Q	?
Score:	76

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4647924
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		250	Q	T	Y	T	L	D	V	L	E	R	S	P	H	R	P	I	L	Q	A	G	L	P	A	N
mutated	not conserved	250			Y	T	L	D	V	L	E	R	S	Q	H	R	P	I	L	Q	A	G	L	P	A
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.842	1
	5.85	1
(flanking)	-1.046	0.012

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

10

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered gDNA sequence snippet

TGCCCCCACAGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Original cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCCGCACCGGCCCATCCTGCAGG

Altered cDNA sequence snippet

GGACGTGCTGGAGCGCTCCCAGCACCGGCCCATCCTGCAGG

Wildtype AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQQVSLESNA SMSSNTPLVR IARLSSGEGP TLANVSELEL PADPKWELSR ARLTLGKPLG
EGCFGQVVMA EAIGIDKDRA AKPVTVAVKM LKDDATDKDL SDLVSEMEMM KMIGKHKNII
NLLGACTQGG PLYVLVEYAA KGNLREFLRA RRPPGLDYSF DTCKPPEEQL TFKDLVSCAY
QVARGMEYLA SQKCIHRDLA ARNVLVTEDN VMKIADFGLA RDVHNLDYYK KTTNLVLWGP
ALGDLHAGGL PVPRHPCGGA LQAAEGGPPH GQARQLHTRP VHDHAGVLAC RALPEAHLQA
AGGGPGPCPY RDVHRRVPGP VGAFRAVLPG WPGHPQLQLL RGRLRVCPRP AAPGPTQQWG
LADVKGHWSP TM*

Mutated AA sequence

MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSQ HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQQVSLESNA SMSSNTPLVR IARLSSGEGP TLANVSELEL PADPKWELSR ARLTLGKPLG
EGCFGQVVMA EAIGIDKDRA AKPVTVAVKM LKDDATDKDL SDLVSEMEMM KMIGKHKNII
NLLGACTQGG PLYVLVEYAA KGNLREFLRA RRPPGLDYSF DTCKPPEEQL TFKDLVSCAY
QVARGMEYLA SQKCIHRDLA ARNVLVTEDN VMKIADFGLA RDVHNLDYYK KTTNLVLWGP
ALGDLHAGGL PVPRHPCGGA LQAAEGGPPH GQARQLHTRP VHDHAGVLAC RALPEAHLQA
AGGGPGPCPY RDVHRRVPGP VGAFRAVLPG WPGHPQLQLL RGRLRVCPRP AAPGPTQQWG
LADVKGHWSP TM*

Position of stopcodon in wt / mu CDS

2379 / 2379

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

793 / 793

Position of stopcodon in wt / mu cDNA

2646 / 2646

Position of start ATG in wt / mu cDNA

268 / 268

Last intron/exon boundary

2473

Theoretical NMD boundary in CDS

2155

Length of CDS

2379

Coding sequence (CDS) position

749

cDNA position

1016

gDNA position

8552

Chromosomal position

1801844

Speed

0.11 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