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: ENST00000456570
Querying Taster for transcript #2: ENST00000477310
Querying Taster for transcript #3: ENST00000483004
Querying Taster for transcript #4: ENST00000698628
Querying Taster for transcript #5: ENST00000425368
MT speed 0.25 s - this script 2.62384 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000698628	CFB	Benign	0\|100	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000425368(MANE Select)	CFB	Benign	39\|61	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000483004	CFB	Benign	45\|55	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD

Some transcripts had annotation problems and are not shown

MutationT@ster 2025

Variant:

6:31946403G>A_4_ENST00000698628

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:31946403G>A (GRCh38)

Gene symbol

CFB

Gene constraints

no data

Ensembl transcript ID

ENST00000698628.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.95G>A
g.754G>A

AA changes

AAE:	R32Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs641153
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	8814	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		32	G	G	V	T	T	T	P	W	S	L	A	R	P	Q	G	S	C	S	L	E	G	V	E	I
mutated	all conserved	32	G	G	V	T	T	T	P	W	S	L	A	Q	P	Q	G	S	C	S	L	E	G	V	E
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)	-0.787	0
	-2.311	0
(flanking)	1.423	0.004

?

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

CACTCCATGGTCTTTGGCCCGGCCCCAGGGATCCTGCTCTC

Altered gDNA sequence snippet

CACTCCATGGTCTTTGGCCCAGCCCCAGGGATCCTGCTCTC

Original cDNA sequence snippet

CACTCCATGGTCTTTGGCCCGGCCCCAGGGATCCTGCTCTC

Altered cDNA sequence snippet

CACTCCATGGTCTTTGGCCCAGCCCCAGGGATCCTGCTCTC

Wildtype AA sequence

MGSNLSPQLC LMPFILGLLS GGVTTTPWSL ARPQGSCSLE GVEIKGGSFR LLQEGQALEY
VCPSGFYPYP VQTRTCRSTG SWSTLKTQDQ KTVRKAECRA IHCPRPHDFE NGEYWPRSPY
YNVSDEISFH CYDGYTLRGS ANRTCQVNGR WSGQTAICDN GAGYCSNPGI PIGTRKVGSQ
YRLEDSVTYH CSRGLTLRGS QRRTCQEGGS WSGTEPSCQD SFMYDTPQEV AEAFLSSLTE
TIEGVDAEDG HGPGEQQKRK IVLDPSGSMN IYLVLDGSDS IGASNFTGAK KCLVNLIEKV
ASYGVKPRYG LVTYATYPKI WVKVSEADSS NADWVTKQLN EINYEDHKLK SGTNTKKALQ
AVYSMMSWPD DVPPEGWNRT RHVIILMTDG LHNMGGDPIT VIDEIRDLLY IGKDRKNPRE
DYLDVYVFGV GPLVNQVNIN ALASKKDNEQ HVFKVKDMEN LEDVFYQMID ESQSLSLCGM
VWEHRKGTDY HKQPWQAKIS VIRPSKGHES CMGAVVSEYF VLTAAHCFTV DDKEHSIKVS
VEEELLPAQD IKALFVSEEE KKLTRKEVYI KNGDKKGSCE RDAQYAPGYD KVKDISEVVT
PRFLCTGGVS PYADPNTCRG DSGGPLIVHK RSRFIQVGVI SWGVVDVCKN QKRQKQVPAH
ARDFHINLFQ VLPWLKEKLQ DEDLGFL*

Mutated AA sequence

MGSNLSPQLC LMPFILGLLS GGVTTTPWSL AQPQGSCSLE GVEIKGGSFR LLQEGQALEY
VCPSGFYPYP VQTRTCRSTG SWSTLKTQDQ KTVRKAECRA IHCPRPHDFE NGEYWPRSPY
YNVSDEISFH CYDGYTLRGS ANRTCQVNGR WSGQTAICDN GAGYCSNPGI PIGTRKVGSQ
YRLEDSVTYH CSRGLTLRGS QRRTCQEGGS WSGTEPSCQD SFMYDTPQEV AEAFLSSLTE
TIEGVDAEDG HGPGEQQKRK IVLDPSGSMN IYLVLDGSDS IGASNFTGAK KCLVNLIEKV
ASYGVKPRYG LVTYATYPKI WVKVSEADSS NADWVTKQLN EINYEDHKLK SGTNTKKALQ
AVYSMMSWPD DVPPEGWNRT RHVIILMTDG LHNMGGDPIT VIDEIRDLLY IGKDRKNPRE
DYLDVYVFGV GPLVNQVNIN ALASKKDNEQ HVFKVKDMEN LEDVFYQMID ESQSLSLCGM
VWEHRKGTDY HKQPWQAKIS VIRPSKGHES CMGAVVSEYF VLTAAHCFTV DDKEHSIKVS
VEEELLPAQD IKALFVSEEE KKLTRKEVYI KNGDKKGSCE RDAQYAPGYD KVKDISEVVT
PRFLCTGGVS PYADPNTCRG DSGGPLIVHK RSRFIQVGVI SWGVVDVCKN QKRQKQVPAH
ARDFHINLFQ VLPWLKEKLQ DEDLGFL*

Position of stopcodon in wt / mu CDS

2064 / 2064

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

688 / 688

Position of stopcodon in wt / mu cDNA

2192 / 2192

Position of start ATG in wt / mu cDNA

129 / 129

Last intron/exon boundary

2036

Theoretical NMD boundary in CDS

1857

Length of CDS

2064

Coding sequence (CDS) position

95

cDNA position

223

gDNA position

754

Chromosomal position

31946403

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

Back to summary table

MutationT@ster 2025

Variant:

6:31946403G>A_5_ENST00000425368

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 39|61 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:31946403G>A (GRCh38)

Gene symbol

CFB

Gene constraints

LOEUF: 0.72, LOF (oe): 0.58, misssense (oe): 0.76, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000425368.7

Genbank transcript ID

NM_001710 (exact from MANE)

UniProt / AlphaMissense peptide

CFAB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.95G>A
g.754G>A

AA changes

AAE:	R32Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs641153
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	8814	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		32	G	G	V	T	T	T	P	W	S	L	A	R	P	Q	G	S	C	S	L	E	G	V	E	I
mutated	all conserved	32	G	G	V	T	T	T	P	W	S	L	A	Q	P	Q	G	S	C	S	L	E	G	V	E
Ptroglodytes	no alignment	n/a
Mmulatta	all conserved	534		G	V	T	T	T	P	L	S	S	A	Q	P	Q	G	S	C	S	L	E	G	V	E
Fcatus	not conserved	32	G	G	G	S	I	P	P	L	T	V	V	G	P	Q	G	S	C	S	L	E	G	V	E
Mmusculus	all identical	31	G	G	V	S	A	T	P	V	L	E	A	R	P	Q	V	S	C	S	L	E	G	V	E
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
26	259	CHAIN		lost
26	764	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.787	0
	-2.311	0
(flanking)	1.423	0.004

?

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

CACTCCATGGTCTTTGGCCCGGCCCCAGGGATCCTGCTCTC

Altered gDNA sequence snippet

CACTCCATGGTCTTTGGCCCAGCCCCAGGGATCCTGCTCTC

Original cDNA sequence snippet

CACTCCATGGTCTTTGGCCCGGCCCCAGGGATCCTGCTCTC

Altered cDNA sequence snippet

CACTCCATGGTCTTTGGCCCAGCCCCAGGGATCCTGCTCTC

Wildtype AA sequence

MGSNLSPQLC LMPFILGLLS GGVTTTPWSL ARPQGSCSLE GVEIKGGSFR LLQEGQALEY
VCPSGFYPYP VQTRTCRSTG SWSTLKTQDQ KTVRKAECRA IHCPRPHDFE NGEYWPRSPY
YNVSDEISFH CYDGYTLRGS ANRTCQVNGR WSGQTAICDN GAGYCSNPGI PIGTRKVGSQ
YRLEDSVTYH CSRGLTLRGS QRRTCQEGGS WSGTEPSCQD SFMYDTPQEV AEAFLSSLTE
TIEGVDAEDG HGPGEQQKRK IVLDPSGSMN IYLVLDGSDS IGASNFTGAK KCLVNLIEKV
ASYGVKPRYG LVTYATYPKI WVKVSEADSS NADWVTKQLN EINYEDHKLK SGTNTKKALQ
AVYSMMSWPD DVPPEGWNRT RHVIILMTDG LHNMGGDPIT VIDEIRDLLY IGKDRKNPRE
DYLDVYVFGV GPLVNQVNIN ALASKKDNEQ HVFKVKDMEN LEDVFYQMID ESQSLSLCGM
VWEHRKGTDY HKQPWQAKIS VIRPSKGHES CMGAVVSEYF VLTAAHCFTV DDKEHSIKVS
VGGEKRDLEI EVVLFHPNYN INGKKEAGIP EFYDYDVALI KLKNKLKYGQ TIRPICLPCT
EGTTRALRLP PTTTCQQQKE ELLPAQDIKA LFVSEEEKKL TRKEVYIKNG DKKGSCERDA
QYAPGYDKVK DISEVVTPRF LCTGGVSPYA DPNTCRGDSG GPLIVHKRSR FIQVGVISWG
VVDVCKNQKR QKQVPAHARD FHINLFQVLP WLKEKLQDED LGFL*

Mutated AA sequence

MGSNLSPQLC LMPFILGLLS GGVTTTPWSL AQPQGSCSLE GVEIKGGSFR LLQEGQALEY
VCPSGFYPYP VQTRTCRSTG SWSTLKTQDQ KTVRKAECRA IHCPRPHDFE NGEYWPRSPY
YNVSDEISFH CYDGYTLRGS ANRTCQVNGR WSGQTAICDN GAGYCSNPGI PIGTRKVGSQ
YRLEDSVTYH CSRGLTLRGS QRRTCQEGGS WSGTEPSCQD SFMYDTPQEV AEAFLSSLTE
TIEGVDAEDG HGPGEQQKRK IVLDPSGSMN IYLVLDGSDS IGASNFTGAK KCLVNLIEKV
ASYGVKPRYG LVTYATYPKI WVKVSEADSS NADWVTKQLN EINYEDHKLK SGTNTKKALQ
AVYSMMSWPD DVPPEGWNRT RHVIILMTDG LHNMGGDPIT VIDEIRDLLY IGKDRKNPRE
DYLDVYVFGV GPLVNQVNIN ALASKKDNEQ HVFKVKDMEN LEDVFYQMID ESQSLSLCGM
VWEHRKGTDY HKQPWQAKIS VIRPSKGHES CMGAVVSEYF VLTAAHCFTV DDKEHSIKVS
VGGEKRDLEI EVVLFHPNYN INGKKEAGIP EFYDYDVALI KLKNKLKYGQ TIRPICLPCT
EGTTRALRLP PTTTCQQQKE ELLPAQDIKA LFVSEEEKKL TRKEVYIKNG DKKGSCERDA
QYAPGYDKVK DISEVVTPRF LCTGGVSPYA DPNTCRGDSG GPLIVHKRSR FIQVGVISWG
VVDVCKNQKR QKQVPAHARD FHINLFQVLP WLKEKLQDED LGFL*

Position of stopcodon in wt / mu CDS

2295 / 2295

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

765 / 765

Position of stopcodon in wt / mu cDNA

2422 / 2422

Position of start ATG in wt / mu cDNA

128 / 128

Last intron/exon boundary

2266

Theoretical NMD boundary in CDS

2088

Length of CDS

2295

Coding sequence (CDS) position

95

cDNA position

222

gDNA position

754

Chromosomal position

31946403

Speed

0.09 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:

6:31946403G>A_3_ENST00000483004

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 45|55 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:31946403G>A (GRCh38)

Gene symbol

CFB

Gene constraints

LOEUF: 0.95, LOF (oe): 0.70, misssense (oe): 0.76, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000483004.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.95G>A
g.754G>A

AA changes

AAE:	R32Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs641153
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	8814	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		32	G	G	V	T	T	T	P	W	S	L	A	R	P	Q	G	S	C	S	L	E	G	V	E	I
mutated	all conserved	32	G	G	V	T	T	T	P	W	S	L	A	Q	P	Q	G	S	C	S	L	E	G	V	E
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)	-0.787	0
	-2.311	0
(flanking)	1.423	0.004

?

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

CACTCCATGGTCTTTGGCCCGGCCCCAGGGATCCTGCTCTC

Altered gDNA sequence snippet

CACTCCATGGTCTTTGGCCCAGCCCCAGGGATCCTGCTCTC

Original cDNA sequence snippet

CACTCCATGGTCTTTGGCCCGGCCCCAGGGATCCTGCTCTC

Altered cDNA sequence snippet

CACTCCATGGTCTTTGGCCCAGCCCCAGGGATCCTGCTCTC

Wildtype AA sequence

MGSNLSPQLC LMPFILGLLS GGVTTTPWSL ARPQGSCSLE GVEIKGGSFR LLQEGQALEY
VCPSGFYPYP VQTRTCRSTG SWSTLKTQDQ KTVRKAECRA IHCPRPHDFE NGEYWPRSPY
YNVSDEISFH CYDGYTLRGS ANRTCQVNGR WSGQTAICDN GAGYCSNPGI PIGTRKVGSQ
YRLEDSVTYH CSRGLTLRGS QRRTCQEGGS WSGTEPSCQD SFMYDTPQEV AEAFLSSLTE
TIEGVDAEDG HGPGEQQKRK IVLDPSGSMN IYLVLDGSDS IGASNFTGAK KCLVNLIEKV
ASYGVKPRYG LVTYATYPKI WVKVSEADSS NADWVTKQLN EINYEDHKLK SGTNTKKALQ
AVYSMMSWPD DVPPEGWNRT RHVIILMTDG LHNMGGDPIT VIDEIRDLLY IGKDRKNPRE
DYLDVYVFGV GPLVNQVNIN ALASKKDNEQ HVFKVKDMEN LEDVFYQMIG GEKRDLEIEV
VLFHPNYNIN GKKEAGIPEF YDYDVALIKL KNKLKYGQTI RPICLPCTEG TTRALRLPPT
TTCQQQKEEL LPAQDIKALF VSEEEKKLTR KEVYIKNGDK KGSCERDAQY APGYDKVKDI
SEVVTPRFLC TGGVSPYADP NTCRGDSGGP LIVHKRSRFI QVGVISWGVV DVCKNQKRQK
QVPAHARDFH INLFQVLPWL KEKLQDEDLG FL*

Mutated AA sequence

MGSNLSPQLC LMPFILGLLS GGVTTTPWSL AQPQGSCSLE GVEIKGGSFR LLQEGQALEY
VCPSGFYPYP VQTRTCRSTG SWSTLKTQDQ KTVRKAECRA IHCPRPHDFE NGEYWPRSPY
YNVSDEISFH CYDGYTLRGS ANRTCQVNGR WSGQTAICDN GAGYCSNPGI PIGTRKVGSQ
YRLEDSVTYH CSRGLTLRGS QRRTCQEGGS WSGTEPSCQD SFMYDTPQEV AEAFLSSLTE
TIEGVDAEDG HGPGEQQKRK IVLDPSGSMN IYLVLDGSDS IGASNFTGAK KCLVNLIEKV
ASYGVKPRYG LVTYATYPKI WVKVSEADSS NADWVTKQLN EINYEDHKLK SGTNTKKALQ
AVYSMMSWPD DVPPEGWNRT RHVIILMTDG LHNMGGDPIT VIDEIRDLLY IGKDRKNPRE
DYLDVYVFGV GPLVNQVNIN ALASKKDNEQ HVFKVKDMEN LEDVFYQMIG GEKRDLEIEV
VLFHPNYNIN GKKEAGIPEF YDYDVALIKL KNKLKYGQTI RPICLPCTEG TTRALRLPPT
TTCQQQKEEL LPAQDIKALF VSEEEKKLTR KEVYIKNGDK KGSCERDAQY APGYDKVKDI
SEVVTPRFLC TGGVSPYADP NTCRGDSGGP LIVHKRSRFI QVGVISWGVV DVCKNQKRQK
QVPAHARDFH INLFQVLPWL KEKLQDEDLG FL*

Position of stopcodon in wt / mu CDS

2079 / 2079

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

693 / 693

Position of stopcodon in wt / mu cDNA

2301 / 2301

Position of start ATG in wt / mu cDNA

223 / 223

Last intron/exon boundary

2145

Theoretical NMD boundary in CDS

1872

Length of CDS

2079

Coding sequence (CDS) position

95

cDNA position

317

gDNA position

754

Chromosomal position

31946403

Speed

0.09 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

Problem:

1

MutationT@ster 2025

Data problem

No NCBI gene ID found.

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Problem:

2

MutationT@ster 2025

Data problem

No NCBI gene ID found.

Back to summary table