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: ENST00000301093
Querying Taster for transcript #2: ENST00000540331
Querying Taster for transcript #3: ENST00000391785
MT speed 0.14 s - this script 2.556426 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
ENST00000391785(MANE Select)	ZNF701	Benign	1\|99	5utr	No	Single base exchange	N/A
ENST00000301093	ZNF701	Benign	42\|58	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000540331	ZNF701	Benign	42\|58	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

19:52574106G>A_3_ENST00000391785

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Prediction:

BenignPermalink

Summary:

Model: 5utr
Tree vote: 1|99 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:52574106G>A (GRCh38)

Gene symbol

ZNF701

Gene constraints

LOEUF: 1.89, LOF (oe): 1.22, misssense (oe): 0.96, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000391785.8

Genbank transcript ID

NM_018260 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.74G>A
g.18285G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs545847001
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	123	123

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.217	0.003
	-0.076	0.001
(flanking)	-0.005	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

N/A

Chromosome

19

Strand

1

Original gDNA sequence snippet

CTAAAGACTTGGTACGTGAGGAAAAAACACGGAAGAGGAAG

Altered gDNA sequence snippet

CTAAAGACTTGGTACGTGAGAAAAAAACACGGAAGAGGAAG

Original cDNA sequence snippet

CTAAAGACTTGGTACGTGAGGAAAAAACACGGAAGAGGAAG

Altered cDNA sequence snippet

CTAAAGACTTGGTACGTGAGAAAAAAACACGGAAGAGGAAG

Wildtype AA sequence

MALLQGLLTF RDVAIEFSQE EWKCLDPAQR TLYRDVMLEN YRNLVSLDTS SKCMMKMFSS
TGQGNTEVVH TGTLQIHASH HIGDTCFQEI EKDIHDFVFQ WQENETNGHE ALMTKTKKLM
SSTERHDQRH AGNKPIKNEL GSSFHSHLPE VHIFHPEGKI GNQVEKAIND AFSVSASQRI
SCRPKTRISN KYRNNFLQSS LLTQKREVHT REKSFQRNES GKAFNGSSLL KKHQIIHLGD
KQYKCDVCGK DFHQKRYLAC HRCHTGENPY TCNECGKTFS HNSALLVHKA IHTGEKPYKC
NECGKVFNQQ SNLARHHRVH TGEKPYKCEE CDKVFSRKSH LERHRRIHTG EKPYKCKVCD
KAFRRDSHLA QHTVIHTGEK PYKCNECGKT FVQNSSLVMH KVIHTGEKRY KCNECGKVFN
HKSNLACHRR LHTGEKPYKC NECGKVFNRK SNLERHHRLH TGKKS*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

116 / 116

Last intron/exon boundary

257

Theoretical NMD boundary in CDS

91

Length of CDS

1398

Coding sequence (CDS) position

N/A

cDNA position

74

gDNA position

18285

Chromosomal position

52574106

Speed

0.01 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:

19:52574106G>A_1_ENST00000301093

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 42|58 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:52574106G>A (GRCh38)

Gene symbol

ZNF701

Gene constraints

LOEUF: 1.78, LOF (oe): 1.10, misssense (oe): 0.98, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000301093.6

Genbank transcript ID

UniProt / AlphaMissense peptide

ZN701_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.157G>A
g.18285G>A

AA changes

AAE:	E53K	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs545847001
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	123	123

Protein conservation

Species	Match	AA	Alignment
Human		53	E	G	L	T	S	K	D	L	V	R	E	E	K	T	R	K	R	K	R	K	A	K	E	S
mutated	all conserved	53	E	G	L	T	S	K	D	L	V	R	E	K	K	T	R	K	R	K	R
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	531	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.217	0.003
	-0.076	0.001
(flanking)	-0.005	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

19

Strand

1

Original gDNA sequence snippet

CTAAAGACTTGGTACGTGAGGAAAAAACACGGAAGAGGAAG

Altered gDNA sequence snippet

CTAAAGACTTGGTACGTGAGAAAAAAACACGGAAGAGGAAG

Original cDNA sequence snippet

CTAAAGACTTGGTACGTGAGGAAAAAACACGGAAGAGGAAG

Altered cDNA sequence snippet

CTAAAGACTTGGTACGTGAGAAAAAAACACGGAAGAGGAAG

Wildtype AA sequence

MGFLHVGQDG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REEKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYTCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*

Mutated AA sequence

MGFLHVGQDG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REKKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYTCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*

Position of stopcodon in wt / mu CDS

1596 / 1596

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

532 / 532

Position of stopcodon in wt / mu cDNA

1631 / 1631

Position of start ATG in wt / mu cDNA

36 / 36

Last intron/exon boundary

375

Theoretical NMD boundary in CDS

289

Length of CDS

1596

Coding sequence (CDS) position

157

cDNA position

192

gDNA position

18285

Chromosomal position

52574106

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

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MutationT@ster 2025

Variant:

19:52574106G>A_2_ENST00000540331

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 42|58 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:52574106G>A (GRCh38)

Gene symbol

ZNF701

Gene constraints

LOEUF: 1.78, LOF (oe): 1.10, misssense (oe): 0.98, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000540331.1

Genbank transcript ID

NM_001172655 (by similarity)

UniProt / AlphaMissense peptide

ZN701_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.157G>A
g.18285G>A

AA changes

AAE:	E53K	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs545847001
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	123	123

Protein conservation

Species	Match	AA	Alignment
Human		53	E	G	L	T	S	K	D	L	V	R	E	E	K	T	R	K	R	K	R	K	A	K	E	S
mutated	all conserved	53	E	G	L	T	S	K	D	L	V	R	E	K	K	T	R	K	R	K	R
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	531	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.217	0.003
	-0.076	0.001
(flanking)	-0.005	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

19

Strand

1

Original gDNA sequence snippet

CTAAAGACTTGGTACGTGAGGAAAAAACACGGAAGAGGAAG

Altered gDNA sequence snippet

CTAAAGACTTGGTACGTGAGAAAAAAACACGGAAGAGGAAG

Original cDNA sequence snippet

CTAAAGACTTGGTACGTGAGGAAAAAACACGGAAGAGGAAG

Altered cDNA sequence snippet

CTAAAGACTTGGTACGTGAGAAAAAAACACGGAAGAGGAAG

Wildtype AA sequence

MGFLHVGQDG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REEKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYTCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*

Mutated AA sequence

MGFLHVGQDG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REKKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYTCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*

Position of stopcodon in wt / mu CDS

1596 / 1596

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

532 / 532

Position of stopcodon in wt / mu cDNA

1821 / 1821

Position of start ATG in wt / mu cDNA

226 / 226

Last intron/exon boundary

565

Theoretical NMD boundary in CDS

289

Length of CDS

1596

Coding sequence (CDS) position

157

cDNA position

382

gDNA position

18285

Chromosomal position

52574106

Speed

0.08 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