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: ENST00000220772
MT speed 0.36 s - this script 2.805987 s

Transcript summary:

Permalink

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	76\|24	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

8:41308711T>C_1_ENST00000220772

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:41308711T>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.449A>G
g.763A>G

AA changes

AAE:	Y150C	?
Score:	194

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs745540217
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	28	28

Protein conservation

Species	Match	AA	Alignment
Human		150	S	C	E	P	V	M	Q	F	F	G	F	Y	W	P	E	M	L	K	C	D	K	F	P	E
mutated	not conserved	150	S	C	E	P	V	M	Q	F	F	G	F	C	W	P	E	M	L	K	C	D	K	F	P
Ptroglodytes	all identical	150	S	C	E	P	V	M	Q	F	F	G	F	Y	W	P	E	M	L	K	C	D	K	F	P
Mmulatta	all identical	150	S	C	E	P	V	M	Q	F	F	G	F	Y	W	P	E	M	L	K	C	D	K	F	P
Fcatus	all identical	150	S	C	E	P	V	M	Q	F	F	G	F	Y	W	P	E	M	L	K	C	D	K	F	P
Mmusculus	all identical	150	S	C	E	P	V	M	Q	F	F	G	F	Y	W	P	E	M	L	K	C	D	K	F	P
Ggallus	all conserved	146	S	C	E	P	V	M	Q	F	F	G	F	F	W	P	E	M	L	K	C	D	Q	F	P
Trubripes	not conserved	142	G	C	I	P	I	M	E	A	F	G	F	P	W	P	E	M	L	T	C	D	K	F	P
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all conserved	146												H	W	P	E	M	L	R	C	E	Q	Y	PT

Protein features

Start (aa)	End (aa)	Feature	Details
32	314	CHAIN		lost
53	169	DOMAIN	FZ	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.108	1
	3.29	1
(flanking)	3.711	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

8

Strand

-1

Original gDNA sequence snippet

CATGCAGTTCTTCGGCTTCTACTGGCCCGAGATGCTTAAGT

Altered gDNA sequence snippet

CATGCAGTTCTTCGGCTTCTGCTGGCCCGAGATGCTTAAGT

Original cDNA sequence snippet

CATGCAGTTCTTCGGCTTCTACTGGCCCGAGATGCTTAAGT

Altered cDNA sequence snippet

CATGCAGTTCTTCGGCTTCTGCTGGCCCGAGATGCTTAAGT

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 EPVMQFFGFC WPEMLKCDKF PEGDVCIAMT PPNATEASKP
QGTTVCPPCD NELKSEAIIE HLCASEFALR MKIKEVKKEN GDKKIVPKKK KPLKLGPIKK
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

449

cDNA position

763

gDNA position

763

Chromosomal position

41308711

Speed

0.36 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