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: ENST00000220772
Querying Taster for transcript #2: ENST00000379845
MT speed 0.22 s - this script 2.652169 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
ENST00000220772(MANE Select)	SFRP1	Deleterious	68\|32	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000379845	SFRP1	Deleterious	85\|15	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

8:41265415G>C_1_ENST00000220772

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 68|32 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:41265415G>C (GRCh38)

Gene symbol

SFRP1

Gene constraints

LOEUF: 0.67, LOF (oe): 0.39, misssense (oe): 0.84, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000220772.8

Genbank transcript ID

NM_003012 (exact from MANE)

UniProt / AlphaMissense peptide

SFRP1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.697C>G
g.44059C>G

AA changes

AAE:	L233V	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs142720509
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	180	181

Protein conservation

Species	Match	AA	Alignment
Human		233	D	K	K	I	V	P	K	K	K	K	P	L	K	L	G	P	I	K	K	K	D	L	K	K
mutated	all conserved	233	D	K	K	I	V	P	K	K	K	K	P	V	K	L	G	P	I	K	K
Ptroglodytes	all identical	233	D	K	K	I	V	P	K	K	K	K	P	L	K	L	G	P	I	K	K
Mmulatta	all identical	233	D	K	K	I	V	P	K	K	K	K	P	L	K	L	G	P	I	K	K
Fcatus	all identical	233	D	K	K	I	V	P	K	K	K	K	P	L	K	L	G	P	I	K	K
Mmusculus	all identical	233	D	K	K	I	V	P	K	K	K	K	P	L	K	L	G	P	I	K	K
Ggallus	all identical	229	D	K	V	I	I	P	R	K	R	K	A	L	K	L	G	P	I	R	K	K
Trubripes	all identical	226	D	R	K	V	IL	H	K	R	K	K	M	L	K	S	G	N	L	K	K	K	D	I	K
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	230	D	R	K	L	L	L	R	K	K	K	A	L	K	K	G	P	I	Q	K	K	D	W	S

Protein features

Start (aa)	End (aa)	Feature	Details
32	314	CHAIN		lost
186	306	DOMAIN	NTR	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.325	1
	0.512	0.177
(flanking)	-1.693	0

?

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

8

Strand

-1

Original gDNA sequence snippet

TCCCCAAGAAGAAGAAGCCCCTGAAGTTGGGGCCCATCAAG

Altered gDNA sequence snippet

TCCCCAAGAAGAAGAAGCCCGTGAAGTTGGGGCCCATCAAG

Original cDNA sequence snippet

TCCCCAAGAAGAAGAAGCCCCTGAAGTTGGGGCCCATCAAG

Altered cDNA sequence snippet

TCCCCAAGAAGAAGAAGCCCGTGAAGTTGGGGCCCATCAAG

Wildtype AA sequence

MGIGRSEGGR RGAALGVLLA LGAALLAVGS ASEYDYVSFQ SDIGPYQSGR FYTKPPQCVD
IPADLRLCHN VGYKKMVLPN LLEHETMAEV KQQASSWVPL LNKNCHAGTQ VFLCSLFAPV
CLDRPIYPCR WLCEAVRDSC EPVMQFFGFY WPEMLKCDKF PEGDVCIAMT PPNATEASKP
QGTTVCPPCD NELKSEAIIE HLCASEFALR MKIKEVKKEN GDKKIVPKKK KPLKLGPIKK
KDLKKLVLYL KNGADCPCHQ LDNLSHHFLI MGRKVKSQYL LTAIHKWDKK NKEFKNFMKK
MKNHECPTFQ SVFK*

Mutated AA sequence

MGIGRSEGGR RGAALGVLLA LGAALLAVGS ASEYDYVSFQ SDIGPYQSGR FYTKPPQCVD
IPADLRLCHN VGYKKMVLPN LLEHETMAEV KQQASSWVPL LNKNCHAGTQ VFLCSLFAPV
CLDRPIYPCR WLCEAVRDSC EPVMQFFGFY WPEMLKCDKF PEGDVCIAMT PPNATEASKP
QGTTVCPPCD NELKSEAIIE HLCASEFALR MKIKEVKKEN GDKKIVPKKK KPVKLGPIKK
KDLKKLVLYL KNGADCPCHQ LDNLSHHFLI MGRKVKSQYL LTAIHKWDKK NKEFKNFMKK
MKNHECPTFQ SVFK*

Position of stopcodon in wt / mu CDS

945 / 945

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

315 / 315

Position of stopcodon in wt / mu cDNA

1259 / 1259

Position of start ATG in wt / mu cDNA

315 / 315

Last intron/exon boundary

936

Theoretical NMD boundary in CDS

571

Length of CDS

945

Coding sequence (CDS) position

697

cDNA position

1011

gDNA position

44059

Chromosomal position

41265415

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

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MutationT@ster 2025

Variant:

8:41265415G>C_2_ENST00000379845

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 85|15 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:41265415G>C (GRCh38)

Gene symbol

SFRP1

Gene constraints

LOEUF: 0.88, LOF (oe): 0.48, misssense (oe): 0.84, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000379845.3

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.289C>G
g.44059C>G

AA changes

AAE:	L97V	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs142720509
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	180	181

Protein conservation

Species	Match	AA	Alignment
Human		97	D	K	K	I	V	P	K	K	K	K	P	L	K	L	G	P	I	K	K	K	D	L	K	K
mutated	all conserved	97	D	K	K	I	V	P	K	K	K	K	P	V	K	L	G	P	I	K	K	K	D	L	K
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)	9.325	1
	0.512	0.177
(flanking)	-1.693	0

?

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

8

Strand

-1

Original gDNA sequence snippet

TCCCCAAGAAGAAGAAGCCCCTGAAGTTGGGGCCCATCAAG

Altered gDNA sequence snippet

TCCCCAAGAAGAAGAAGCCCGTGAAGTTGGGGCCCATCAAG

Original cDNA sequence snippet

TCCCCAAGAAGAAGAAGCCCCTGAAGTTGGGGCCCATCAAG

Altered cDNA sequence snippet

TCCCCAAGAAGAAGAAGCCCGTGAAGTTGGGGCCCATCAAG

Wildtype AA sequence

MGWGNPIIAV FRTPFAPWLQ FHWSAPFSAW LGTVLTHLHS SQQRSGTTVC PPCDNELKSE
AIIEHLCASE FALRMKIKEV KKENGDKKIV PKKKKPLKLG PIKKKDLKKL VLYLKNGADC
PCHQLDNLSH HFLIMGRKVK SQYLLTAIHK WDKKNKEFKN FMKKMKNHEC PTFQSVFK*

Mutated AA sequence

MGWGNPIIAV FRTPFAPWLQ FHWSAPFSAW LGTVLTHLHS SQQRSGTTVC PPCDNELKSE
AIIEHLCASE FALRMKIKEV KKENGDKKIV PKKKKPVKLG PIKKKDLKKL VLYLKNGADC
PCHQLDNLSH HFLIMGRKVK SQYLLTAIHK WDKKNKEFKN FMKKMKNHEC PTFQSVFK*

Position of stopcodon in wt / mu CDS

537 / 537

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

179 / 179

Position of stopcodon in wt / mu cDNA

670 / 670

Position of start ATG in wt / mu cDNA

134 / 134

Last intron/exon boundary

347

Theoretical NMD boundary in CDS

163

Length of CDS

537

Coding sequence (CDS) position

289

cDNA position

422

gDNA position

44059

Chromosomal position

41265415

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