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: ENST00000397454
Querying Taster for transcript #2: ENST00000288912
MT speed 0.09 s - this script 2.533251 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
ENST00000397454	CFAP251	Deleterious	89\|11	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000288912(MANE Select)	CFAP251	Deleterious	90\|10	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

12:121960702G>T_1_ENST00000397454

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 89|11 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:121960702G>T (GRCh38)

Gene symbol

CFAP251

Gene constraints

LOEUF: 0.80, LOF (oe): 0.64, misssense (oe): 0.89, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000397454.2

Genbank transcript ID

NM_001178003 (by similarity)

UniProt / AlphaMissense peptide

CF251_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2251G>T
g.42111G>T

AA changes

AAE:	V751F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs764930594
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	38	38

Protein conservation

Species	Match	AA	Alignment
Human		751	H	R	K	S	I	R	S	L	L	F	G	V	Y	L	D	S	N	E	P	R	L	L	S	L
mutated	not conserved	751	H	R	K	S	I	R	S	L	L	F	G	F	Y	L	D	S	N	E	P	R	L	L	S
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
1	1149	CHAIN		lost
731	774	REPEAT	WD	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.035	0.977
	1.945	1
(flanking)	6.588	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

12

Strand

1

Original gDNA sequence snippet

TTCGAAGTCTCCTGTTTGGGGTTTACCTGGACAGCAATGAG

Altered gDNA sequence snippet

TTCGAAGTCTCCTGTTTGGGTTTTACCTGGACAGCAATGAG

Original cDNA sequence snippet

TTCGAAGTCTCCTGTTTGGGGTTTACCTGGACAGCAATGAG

Altered cDNA sequence snippet

TTCGAAGTCTCCTGTTTGGGTTTTACCTGGACAGCAATGAG

Wildtype AA sequence

MSDAAEAPRE ATGENGETEM KEEEEPNPNY KEVEDPQQES KDDTIAWRES QEEERKTGEE
EGEEEGKEDK KIVMEETEEK AGEVQEKEAS GIQEETTVEP QEVTASMIRL ETQITDSQSI
TSGIFPKTQR GSKSKLSLQL EDAETDELLR DLSTQIEFLD LDQISPEEQQ ISSPERQPSG
ELEEKTDRMP QDELGQERRD LEPENREEGQ ERRVSDIQSK AGISRESLVS STTEDILFQK
DKSTPVYPLT MTWSFGWNSS LPVYYIREER QRVLLYVCAH TAIIYNVFRN NQYHLQGHAN
IISCLCVSED RRWIATADKG PDCLVIIWDS FTGIPVHTIF DSCPEGNGIM AMAMTHDAKY
LATISDAEVQ KVCIWKWTLA VETPACTLEL PTEYGVQNYV TFNPTNNKEL VSNSKTRAIY
YAWYEERDTL AHSAPLLTEK TFNKLVGKFS QSIFHLNLTQ ILSATMEGKL VVWDIHRPPS
SASTFLGFPY IKPCKLVHLQ KEGITVLTTI DSYIVTGDIK GNIKFYDHTL SIVNWYSHLK
LGAIRTLSFS KTPATPPTEK SNYPPDCTLK GDLFVLRNFI IGTSDAAVYH LTTDGTKLEK
LFVEPKDAIC AISCHPYQPL IAIGSICGMI KVWNYENKQY LFSRVFEKGL GVQSLTYNPE
GALLGAGFTE GTVYILDAMS LENESPEPFK YSRTSVTHIS FSHDSQYMAT ADRSFTVAVY
MLVVRNGQRV WEYLARLRSH RKSIRSLLFG VYLDSNEPRL LSLGTDRLLI EYDLLRSYKD
HLEVLDIHHT DQGCYPTCMV WYPPLTRELF LLICNSGYKV KLFNATTKMC RKTLLGPAYG
SPIEQTQVLP VRSMAELQKR YLVFINRDKV GLQILPVDGN PHKTSAIVCH PNGVAGMAVS
YDGCYAFTAG GHDRSVVQWK ITLSHPGSQA PILSPSDTSR S*

Mutated AA sequence

MSDAAEAPRE ATGENGETEM KEEEEPNPNY KEVEDPQQES KDDTIAWRES QEEERKTGEE
EGEEEGKEDK KIVMEETEEK AGEVQEKEAS GIQEETTVEP QEVTASMIRL ETQITDSQSI
TSGIFPKTQR GSKSKLSLQL EDAETDELLR DLSTQIEFLD LDQISPEEQQ ISSPERQPSG
ELEEKTDRMP QDELGQERRD LEPENREEGQ ERRVSDIQSK AGISRESLVS STTEDILFQK
DKSTPVYPLT MTWSFGWNSS LPVYYIREER QRVLLYVCAH TAIIYNVFRN NQYHLQGHAN
IISCLCVSED RRWIATADKG PDCLVIIWDS FTGIPVHTIF DSCPEGNGIM AMAMTHDAKY
LATISDAEVQ KVCIWKWTLA VETPACTLEL PTEYGVQNYV TFNPTNNKEL VSNSKTRAIY
YAWYEERDTL AHSAPLLTEK TFNKLVGKFS QSIFHLNLTQ ILSATMEGKL VVWDIHRPPS
SASTFLGFPY IKPCKLVHLQ KEGITVLTTI DSYIVTGDIK GNIKFYDHTL SIVNWYSHLK
LGAIRTLSFS KTPATPPTEK SNYPPDCTLK GDLFVLRNFI IGTSDAAVYH LTTDGTKLEK
LFVEPKDAIC AISCHPYQPL IAIGSICGMI KVWNYENKQY LFSRVFEKGL GVQSLTYNPE
GALLGAGFTE GTVYILDAMS LENESPEPFK YSRTSVTHIS FSHDSQYMAT ADRSFTVAVY
MLVVRNGQRV WEYLARLRSH RKSIRSLLFG FYLDSNEPRL LSLGTDRLLI EYDLLRSYKD
HLEVLDIHHT DQGCYPTCMV WYPPLTRELF LLICNSGYKV KLFNATTKMC RKTLLGPAYG
SPIEQTQVLP VRSMAELQKR YLVFINRDKV GLQILPVDGN PHKTSAIVCH PNGVAGMAVS
YDGCYAFTAG GHDRSVVQWK ITLSHPGSQA PILSPSDTSR S*

Position of stopcodon in wt / mu CDS

2826 / 2826

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

942 / 942

Position of stopcodon in wt / mu cDNA

2963 / 2963

Position of start ATG in wt / mu cDNA

138 / 138

Last intron/exon boundary

2908

Theoretical NMD boundary in CDS

2720

Length of CDS

2826

Coding sequence (CDS) position

2251

cDNA position

2388

gDNA position

42111

Chromosomal position

121960702

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:

12:121960702G>T_2_ENST00000288912

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 90|10 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:121960702G>T (GRCh38)

Gene symbol

CFAP251

Gene constraints

LOEUF: 0.83, LOF (oe): 0.69, misssense (oe): 0.88, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000288912.9

Genbank transcript ID

NM_144668 (exact from MANE)

UniProt / AlphaMissense peptide

CF251_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2251G>T
g.42111G>T

AA changes

AAE:	V751F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs764930594
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	38	38

Protein conservation

Species	Match	AA	Alignment
Human		751	H	R	K	S	I	R	S	L	L	F	G	V	Y	L	D	S	N	E	P	R	L	L	S	L
mutated	not conserved	751	H	R	K	S	I	R	S	L	L	F	G	F	Y	L	D	S	N	E	P	R	L	L	S
Ptroglodytes	all identical	757	H	R	K	S	I	R	S	L	L	F	G	V	Y	L	D	S	N	E	P	R	L	L	S
Mmulatta	no homologue
Fcatus	all identical	761	H	R	K	S	I	C	S	L	L	F	G	V	H	L	D	S	N	E	P	R	L	L	S
Mmusculus	all identical	901												V	H	L	D	S	N	E	P	R	L	L	S
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all conserved	664				K	I	Q	S	L	V	F	G	I	H	L	D	T	N	E	P	R	L	I	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	1149	CHAIN		lost
731	774	REPEAT	WD	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.035	0.977
	1.945	1
(flanking)	6.588	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

12

Strand

1

Original gDNA sequence snippet

TTCGAAGTCTCCTGTTTGGGGTTTACCTGGACAGCAATGAG

Altered gDNA sequence snippet

TTCGAAGTCTCCTGTTTGGGTTTTACCTGGACAGCAATGAG

Original cDNA sequence snippet

TTCGAAGTCTCCTGTTTGGGGTTTACCTGGACAGCAATGAG

Altered cDNA sequence snippet

TTCGAAGTCTCCTGTTTGGGTTTTACCTGGACAGCAATGAG

Wildtype AA sequence

MSDAAEAPRE ATGENGETEM KEEEEPNPNY KEVEDPQQES KDDTIAWRES QEEERKTGEE
EGEEEGKEDK KIVMEETEEK AGEVQEKEAS GIQEETTVEP QEVTASMIRL ETQITDSQSI
TSGIFPKTQR GSKSKLSLQL EDAETDELLR DLSTQIEFLD LDQISPEEQQ ISSPERQPSG
ELEEKTDRMP QDELGQERRD LEPENREEGQ ERRVSDIQSK AGISRESLVS STTEDILFQK
DKSTPVYPLT MTWSFGWNSS LPVYYIREER QRVLLYVCAH TAIIYNVFRN NQYHLQGHAN
IISCLCVSED RRWIATADKG PDCLVIIWDS FTGIPVHTIF DSCPEGNGIM AMAMTHDAKY
LATISDAEVQ KVCIWKWTLA VETPACTLEL PTEYGVQNYV TFNPTNNKEL VSNSKTRAIY
YAWYEERDTL AHSAPLLTEK TFNKLVGKFS QSIFHLNLTQ ILSATMEGKL VVWDIHRPPS
SASTFLGFPY IKPCKLVHLQ KEGITVLTTI DSYIVTGDIK GNIKFYDHTL SIVNWYSHLK
LGAIRTLSFS KTPATPPTEK SNYPPDCTLK GDLFVLRNFI IGTSDAAVYH LTTDGTKLEK
LFVEPKDAIC AISCHPYQPL IAIGSICGMI KVWNYENKQY LFSRVFEKGL GVQSLTYNPE
GALLGAGFTE GTVYILDAMS LENESPEPFK YSRTSVTHIS FSHDSQYMAT ADRSFTVAVY
MLVVRNGQRV WEYLARLRSH RKSIRSLLFG VYLDSNEPRL LSLGTDRLLI EYDLLRSYKD
HLEVLDIHHT DQGCYPTCMV WYPPLTRELF LLICNSGYKV KLFNATTKMC RKTLLGPAYG
SPIEQTQVLP VRSMAELQKR YLVFINRDKV GLQILPVDGN PHKTSAIVCH PNGVAGMAVS
YDGCYAFTAG GHDRSVVQWK ITLSVLEAAV SLGGEDLTPF YGLLSGGREG KFYRELEDYF
YYSQLRSQGI DTMETRKVSE HICLSELPFV MRAIGFYPSE EKIDDIFNEI KFGEYVDTGK
LIDKINLPDF LKVYLNHKPP FGNTMSGIHK SFEVLGYTNS KGKKAIRRED FLRLLVTKGE
HMTEEEMLDC FASLFGLNPE GWKSEPATCS VKGSEICLEE ELPDEITAEI FATEILGLTI
SEDSGQDGQ*

Mutated AA sequence

MSDAAEAPRE ATGENGETEM KEEEEPNPNY KEVEDPQQES KDDTIAWRES QEEERKTGEE
EGEEEGKEDK KIVMEETEEK AGEVQEKEAS GIQEETTVEP QEVTASMIRL ETQITDSQSI
TSGIFPKTQR GSKSKLSLQL EDAETDELLR DLSTQIEFLD LDQISPEEQQ ISSPERQPSG
ELEEKTDRMP QDELGQERRD LEPENREEGQ ERRVSDIQSK AGISRESLVS STTEDILFQK
DKSTPVYPLT MTWSFGWNSS LPVYYIREER QRVLLYVCAH TAIIYNVFRN NQYHLQGHAN
IISCLCVSED RRWIATADKG PDCLVIIWDS FTGIPVHTIF DSCPEGNGIM AMAMTHDAKY
LATISDAEVQ KVCIWKWTLA VETPACTLEL PTEYGVQNYV TFNPTNNKEL VSNSKTRAIY
YAWYEERDTL AHSAPLLTEK TFNKLVGKFS QSIFHLNLTQ ILSATMEGKL VVWDIHRPPS
SASTFLGFPY IKPCKLVHLQ KEGITVLTTI DSYIVTGDIK GNIKFYDHTL SIVNWYSHLK
LGAIRTLSFS KTPATPPTEK SNYPPDCTLK GDLFVLRNFI IGTSDAAVYH LTTDGTKLEK
LFVEPKDAIC AISCHPYQPL IAIGSICGMI KVWNYENKQY LFSRVFEKGL GVQSLTYNPE
GALLGAGFTE GTVYILDAMS LENESPEPFK YSRTSVTHIS FSHDSQYMAT ADRSFTVAVY
MLVVRNGQRV WEYLARLRSH RKSIRSLLFG FYLDSNEPRL LSLGTDRLLI EYDLLRSYKD
HLEVLDIHHT DQGCYPTCMV WYPPLTRELF LLICNSGYKV KLFNATTKMC RKTLLGPAYG
SPIEQTQVLP VRSMAELQKR YLVFINRDKV GLQILPVDGN PHKTSAIVCH PNGVAGMAVS
YDGCYAFTAG GHDRSVVQWK ITLSVLEAAV SLGGEDLTPF YGLLSGGREG KFYRELEDYF
YYSQLRSQGI DTMETRKVSE HICLSELPFV MRAIGFYPSE EKIDDIFNEI KFGEYVDTGK
LIDKINLPDF LKVYLNHKPP FGNTMSGIHK SFEVLGYTNS KGKKAIRRED FLRLLVTKGE
HMTEEEMLDC FASLFGLNPE GWKSEPATCS VKGSEICLEE ELPDEITAEI FATEILGLTI
SEDSGQDGQ*

Position of stopcodon in wt / mu CDS

3450 / 3450

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

1150 / 1150

Position of stopcodon in wt / mu cDNA

3574 / 3574

Position of start ATG in wt / mu cDNA

125 / 125

Last intron/exon boundary

3461

Theoretical NMD boundary in CDS

3286

Length of CDS

3450

Coding sequence (CDS) position

2251

cDNA position

2375

gDNA position

42111

Chromosomal position

121960702

Speed

0.05 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