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: ENST00000252979
Querying Taster for transcript #2: ENST00000376436
MT speed 0.85 s - this script 3.28952 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
ENST00000252979(MANE Select)	ZNF337	Benign	29\|71	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000376436	ZNF337	Benign	29\|71	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

20:25675129C>T_1_ENST00000252979

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Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 29|71 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:25675129C>T (GRCh38)

Gene symbol

ZNF337

Gene constraints

LOEUF: 1.08, LOF (oe): 0.60, misssense (oe): 0.93, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000252979.6

Genbank transcript ID

NM_015655 (exact from MANE)

UniProt / AlphaMissense peptide

ZN337_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2159G>A
g.21725G>A

AA changes

AAE:	R720Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs35755622
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	11	1687	1698

Protein conservation

Species	Match	AA	Alignment
Human		720	G	E	R	P	Y	E	C	Q	E	C	G	R	K	F	S	N	K	S	Y	Y	S	K	H	L
mutated	all conserved	720	G	E	R	P	Y	E	C	Q	E	C	G	Q	K	F	S	N	K	S	Y	Y	S	K	H
Ptroglodytes	all identical	720	G	E	R	P	Y	E	C	Q	E	C	G	R	K	F	S	N	K	S	Y	Y	S	K	H
Mmulatta	all identical	357	G	E	R	P	Y	E	C	Q	E	C	G	R	K	F	S	N	K	S	Y	Y	S	K	H
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	751	CHAIN		lost
713	735	ZN_FING	C2H2-type	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.402	0.196
	-0.275	0.014
(flanking)	-0.217	0.065

?

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

20

Strand

-1

Original gDNA sequence snippet

TGAATGCCAAGAGTGTGGACGAAAGTTTAGCAATAAGTCAT

Altered gDNA sequence snippet

TGAATGCCAAGAGTGTGGACAAAAGTTTAGCAATAAGTCAT

Original cDNA sequence snippet

TGAATGCCAAGAGTGTGGACGAAAGTTTAGCAATAAGTCAT

Altered cDNA sequence snippet

TGAATGCCAAGAGTGTGGACAAAAGTTTAGCAATAAGTCAT

Wildtype AA sequence

MGPQGARRQA FLAFGDVTVD FTQKEWRLLS PAQRALYREV TLENYSHLVS LGILHSKPEL
IRRLEQGEVP WGEERRRRPG PCAGIYAEHV LRPKNLGLAH QRQQQLQFSD QSFQSDTAEG
QEKEKSTKPM AFSSPPLRHA VSSRRRNSVV EIESSQGQRE NPTEIDKVLK GIENSRWGAF
KCAERGQDFS RKMMVIIHKK AHSRQKLFTC RECHQGFRDE SALLLHQNTH TGEKSYVCSV
CGRGFSLKAN LLRHQRTHSG EKPFLCKVCG RGYTSKSYLT VHERTHTGEK PYECQECGRR
FNDKSSYNKH LKAHSGEKPF VCKECGRGYT NKSYFVVHKR IHSGEKPYRC QECGRGFSNK
SHLITHQRTH SGEKPFACRQ CKQSFSVKGS LLRHQRTHSG EKPFVCKDCE RSFSQKSTLV
YHQRTHSGEK PFVCRECGQG FIQKSTLVKH QITHSEEKPF VCKDCGRGFI QKSTFTLHQR
THSEEKPYGC RECGRRFRDK SSYNKHLRAH LGEKRFFCRD CGRGFTLKPN LTIHQRTHSG
EKPFMCKQCE KSFSLKANLL RHQWTHSGER PFNCKDCGRG FILKSTLLFH QKTHSGEKPF
ICSECGQGFI WKSNLVKHQL AHSGKQPFVC KECGRGFNWK GNLLTHQRTH SGEKPFVCNV
CGQGFSWKRS LTRHHWRIHS KEKPFVCQEC KRGYTSKSDL TVHERIHTGE RPYECQECGR
KFSNKSYYSK HLKRHLREKR FCTGSVGEAS S*

Mutated AA sequence

MGPQGARRQA FLAFGDVTVD FTQKEWRLLS PAQRALYREV TLENYSHLVS LGILHSKPEL
IRRLEQGEVP WGEERRRRPG PCAGIYAEHV LRPKNLGLAH QRQQQLQFSD QSFQSDTAEG
QEKEKSTKPM AFSSPPLRHA VSSRRRNSVV EIESSQGQRE NPTEIDKVLK GIENSRWGAF
KCAERGQDFS RKMMVIIHKK AHSRQKLFTC RECHQGFRDE SALLLHQNTH TGEKSYVCSV
CGRGFSLKAN LLRHQRTHSG EKPFLCKVCG RGYTSKSYLT VHERTHTGEK PYECQECGRR
FNDKSSYNKH LKAHSGEKPF VCKECGRGYT NKSYFVVHKR IHSGEKPYRC QECGRGFSNK
SHLITHQRTH SGEKPFACRQ CKQSFSVKGS LLRHQRTHSG EKPFVCKDCE RSFSQKSTLV
YHQRTHSGEK PFVCRECGQG FIQKSTLVKH QITHSEEKPF VCKDCGRGFI QKSTFTLHQR
THSEEKPYGC RECGRRFRDK SSYNKHLRAH LGEKRFFCRD CGRGFTLKPN LTIHQRTHSG
EKPFMCKQCE KSFSLKANLL RHQWTHSGER PFNCKDCGRG FILKSTLLFH QKTHSGEKPF
ICSECGQGFI WKSNLVKHQL AHSGKQPFVC KECGRGFNWK GNLLTHQRTH SGEKPFVCNV
CGQGFSWKRS LTRHHWRIHS KEKPFVCQEC KRGYTSKSDL TVHERIHTGE RPYECQECGQ
KFSNKSYYSK HLKRHLREKR FCTGSVGEAS S*

Position of stopcodon in wt / mu CDS

2256 / 2256

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

752 / 752

Position of stopcodon in wt / mu cDNA

2400 / 2400

Position of start ATG in wt / mu cDNA

145 / 145

Last intron/exon boundary

394

Theoretical NMD boundary in CDS

199

Length of CDS

2256

Coding sequence (CDS) position

2159

cDNA position

2303

gDNA position

21725

Chromosomal position

25675129

Speed

0.39 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:

20:25675129C>T_2_ENST00000376436

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 29|71 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:25675129C>T (GRCh38)

Gene symbol

ZNF337

Gene constraints

LOEUF: 1.08, LOF (oe): 0.60, misssense (oe): 0.93, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000376436.5

Genbank transcript ID

NM_001290261 (by similarity)

UniProt / AlphaMissense peptide

ZN337_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2159G>A
g.21725G>A

AA changes

AAE:	R720Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs35755622
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	11	1687	1698

Protein conservation

Species	Match	AA	Alignment
Human		720	G	E	R	P	Y	E	C	Q	E	C	G	R	K	F	S	N	K	S	Y	Y	S	K	H	L
mutated	all conserved	720	G	E	R	P	Y	E	C	Q	E	C	G	Q	K	F	S	N	K	S	Y	Y	S	K	H
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	751	CHAIN		lost
713	735	ZN_FING	C2H2-type	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.402	0.196
	-0.275	0.014
(flanking)	-0.217	0.065

?

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

20

Strand

-1

Original gDNA sequence snippet

TGAATGCCAAGAGTGTGGACGAAAGTTTAGCAATAAGTCAT

Altered gDNA sequence snippet

TGAATGCCAAGAGTGTGGACAAAAGTTTAGCAATAAGTCAT

Original cDNA sequence snippet

TGAATGCCAAGAGTGTGGACGAAAGTTTAGCAATAAGTCAT

Altered cDNA sequence snippet

TGAATGCCAAGAGTGTGGACAAAAGTTTAGCAATAAGTCAT

Wildtype AA sequence

MGPQGARRQA FLAFGDVTVD FTQKEWRLLS PAQRALYREV TLENYSHLVS LGILHSKPEL
IRRLEQGEVP WGEERRRRPG PCAGIYAEHV LRPKNLGLAH QRQQQLQFSD QSFQSDTAEG
QEKEKSTKPM AFSSPPLRHA VSSRRRNSVV EIESSQGQRE NPTEIDKVLK GIENSRWGAF
KCAERGQDFS RKMMVIIHKK AHSRQKLFTC RECHQGFRDE SALLLHQNTH TGEKSYVCSV
CGRGFSLKAN LLRHQRTHSG EKPFLCKVCG RGYTSKSYLT VHERTHTGEK PYECQECGRR
FNDKSSYNKH LKAHSGEKPF VCKECGRGYT NKSYFVVHKR IHSGEKPYRC QECGRGFSNK
SHLITHQRTH SGEKPFACRQ CKQSFSVKGS LLRHQRTHSG EKPFVCKDCE RSFSQKSTLV
YHQRTHSGEK PFVCRECGQG FIQKSTLVKH QITHSEEKPF VCKDCGRGFI QKSTFTLHQR
THSEEKPYGC RECGRRFRDK SSYNKHLRAH LGEKRFFCRD CGRGFTLKPN LTIHQRTHSG
EKPFMCKQCE KSFSLKANLL RHQWTHSGER PFNCKDCGRG FILKSTLLFH QKTHSGEKPF
ICSECGQGFI WKSNLVKHQL AHSGKQPFVC KECGRGFNWK GNLLTHQRTH SGEKPFVCNV
CGQGFSWKRS LTRHHWRIHS KEKPFVCQEC KRGYTSKSDL TVHERIHTGE RPYECQECGR
KFSNKSYYSK HLKRHLREKR FCTGSVGEAS S*

Mutated AA sequence

MGPQGARRQA FLAFGDVTVD FTQKEWRLLS PAQRALYREV TLENYSHLVS LGILHSKPEL
IRRLEQGEVP WGEERRRRPG PCAGIYAEHV LRPKNLGLAH QRQQQLQFSD QSFQSDTAEG
QEKEKSTKPM AFSSPPLRHA VSSRRRNSVV EIESSQGQRE NPTEIDKVLK GIENSRWGAF
KCAERGQDFS RKMMVIIHKK AHSRQKLFTC RECHQGFRDE SALLLHQNTH TGEKSYVCSV
CGRGFSLKAN LLRHQRTHSG EKPFLCKVCG RGYTSKSYLT VHERTHTGEK PYECQECGRR
FNDKSSYNKH LKAHSGEKPF VCKECGRGYT NKSYFVVHKR IHSGEKPYRC QECGRGFSNK
SHLITHQRTH SGEKPFACRQ CKQSFSVKGS LLRHQRTHSG EKPFVCKDCE RSFSQKSTLV
YHQRTHSGEK PFVCRECGQG FIQKSTLVKH QITHSEEKPF VCKDCGRGFI QKSTFTLHQR
THSEEKPYGC RECGRRFRDK SSYNKHLRAH LGEKRFFCRD CGRGFTLKPN LTIHQRTHSG
EKPFMCKQCE KSFSLKANLL RHQWTHSGER PFNCKDCGRG FILKSTLLFH QKTHSGEKPF
ICSECGQGFI WKSNLVKHQL AHSGKQPFVC KECGRGFNWK GNLLTHQRTH SGEKPFVCNV
CGQGFSWKRS LTRHHWRIHS KEKPFVCQEC KRGYTSKSDL TVHERIHTGE RPYECQECGQ
KFSNKSYYSK HLKRHLREKR FCTGSVGEAS S*

Position of stopcodon in wt / mu CDS

2256 / 2256

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

752 / 752

Position of stopcodon in wt / mu cDNA

2796 / 2796

Position of start ATG in wt / mu cDNA

541 / 541

Last intron/exon boundary

790

Theoretical NMD boundary in CDS

199

Length of CDS

2256

Coding sequence (CDS) position

2159

cDNA position

2699

gDNA position

21725

Chromosomal position

25675129

Speed

0.46 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