MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000596209
MT speed 0.04 s - this script 2.493636 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
ENST00000596209(MANE Select)	ZNF99	Benign	34\|66	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

19:22757320C>T_1_ENST00000596209

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Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 34|66 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:22757320C>T (GRCh38)

Gene symbol

ZNF99

Gene constraints

LOEUF: 1.17, LOF (oe): 0.65, misssense (oe): 1.02, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000596209.4

Genbank transcript ID

NM_001080409 (exact from MANE)

UniProt / AlphaMissense peptide

ZNF99_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2589G>A
g.26832G>A

AA changes

AAE:	M863I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs767848190
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	8	685	693

Protein conservation

Species	Match	AA	Alignment
Human		863	K	L	L	N	I	S	Q	P	L	E	N	M	R	*
mutated	all conserved	863	K	L	L	N	I	S	Q	P	L	E	N	I	R
Ptroglodytes	not conserved	835	K	A	F	K	H	F	S	A	L	R	K	H	K	i	i	h	t	g	k	k	p	y	k
Mmulatta	not conserved	900	K	A	F	K	H	F	S	A	L	R	K	H	K	i	i	h	t	g	k	k	p
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	864	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.24	0
	-2.328	0
(flanking)	0.213	0.288

?

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

TCTCAGCCCTTAGAAAACATGAGATAATTCATACTGGAAAG

Altered gDNA sequence snippet

TCTCAGCCCTTAGAAAACATAAGATAATTCATACTGGAAAG

Original cDNA sequence snippet

TCTCAGCCCTTAGAAAACATGAGATAATTCATACTGGAAAG

Altered cDNA sequence snippet

TCTCAGCCCTTAGAAAACATAAGATAATTCATACTGGAAAG

Wildtype AA sequence

MGSLTFWDVT IEFALEEWQC LDMAQQNLYR NVMLENYRNL VFLGIAVSKL DLITCLKQGK
EPWNMKRHEM VTKPPVISSH FTQDFWPDQS IKDSFQEIIL RTYARCGHKN LRLRKDCESV
NEGKMHEEAY NKLNQCWTTT QGKIFQCNKY VKVFHKYSNS NRYKIRHTKK KTFKCMKCSK
SFFMLSHLIQ HKRIHTRENI YKCEERGKAF KWFSTLIKHK IIHTEDKPYK YKKCGKAFNI
SSMFTKCKII HTGKKPCKCE ECGKVFNNSS TLMKHKIIHT GKKPYKCEEC GKAFKQSSHL
TRHKAIHTGE KPYKCEECGK AFNHFSALRK HQIIHTGKKP YKCEECGKAF SQSSTLRKHE
IIHTEEKPYK YEECGKAFSN LSALRKHEII HTGQKPYKCE ECGKAFKWSS KLTVHKVIHT
AEKPCKCEEC GKAFKRFSAL RKHKIIHTGK QPYKCEECSK AFSNFSALRK HEIIHTGEKP
YKCEECGKAF KWSSKLTVHK VIHMEEKPCK CEECGKAFKH FSALRKHKII HTGKKPYKCE
ECGKAFNNSS TLMKHKIIHT GKKPYKCEEC GKAFKQSSHL TRHKAIHTGE KPYKCEECGK
AFNHFSALRK HQIIHTGKKP YKCEECGKAF SQSSTLRKHE IIHTGEKPYK CEECGKAFKW
SSHLTRHKVI HTEEKPYKCE ECGKAFNHFS ALRKHKIIHT GKKPYKCEEC GKAFSQSSTL
RKHEIIHTGE KPYKCEECGK AFKWSSKLTV HKVIHTAEKP CKCEECGKAF KHFSALRKHK
IIHTGKKPYK CEECGKAFNN SSTLRKHEII HTGEKSYKCE ECGKAFQWSS KLTLHKVIHM
ERNPANVKNV AKLLNISQPL ENMR*

Mutated AA sequence

MGSLTFWDVT IEFALEEWQC LDMAQQNLYR NVMLENYRNL VFLGIAVSKL DLITCLKQGK
EPWNMKRHEM VTKPPVISSH FTQDFWPDQS IKDSFQEIIL RTYARCGHKN LRLRKDCESV
NEGKMHEEAY NKLNQCWTTT QGKIFQCNKY VKVFHKYSNS NRYKIRHTKK KTFKCMKCSK
SFFMLSHLIQ HKRIHTRENI YKCEERGKAF KWFSTLIKHK IIHTEDKPYK YKKCGKAFNI
SSMFTKCKII HTGKKPCKCE ECGKVFNNSS TLMKHKIIHT GKKPYKCEEC GKAFKQSSHL
TRHKAIHTGE KPYKCEECGK AFNHFSALRK HQIIHTGKKP YKCEECGKAF SQSSTLRKHE
IIHTEEKPYK YEECGKAFSN LSALRKHEII HTGQKPYKCE ECGKAFKWSS KLTVHKVIHT
AEKPCKCEEC GKAFKRFSAL RKHKIIHTGK QPYKCEECSK AFSNFSALRK HEIIHTGEKP
YKCEECGKAF KWSSKLTVHK VIHMEEKPCK CEECGKAFKH FSALRKHKII HTGKKPYKCE
ECGKAFNNSS TLMKHKIIHT GKKPYKCEEC GKAFKQSSHL TRHKAIHTGE KPYKCEECGK
AFNHFSALRK HQIIHTGKKP YKCEECGKAF SQSSTLRKHE IIHTGEKPYK CEECGKAFKW
SSHLTRHKVI HTEEKPYKCE ECGKAFNHFS ALRKHKIIHT GKKPYKCEEC GKAFSQSSTL
RKHEIIHTGE KPYKCEECGK AFKWSSKLTV HKVIHTAEKP CKCEECGKAF KHFSALRKHK
IIHTGKKPYK CEECGKAFNN SSTLRKHEII HTGEKSYKCE ECGKAFQWSS KLTLHKVIHM
ERNPANVKNV AKLLNISQPL ENIR*

Position of stopcodon in wt / mu CDS

2595 / 2595

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

865 / 865

Position of stopcodon in wt / mu cDNA

2730 / 2730

Position of start ATG in wt / mu cDNA

136 / 136

Last intron/exon boundary

361

Theoretical NMD boundary in CDS

175

Length of CDS

2595

Coding sequence (CDS) position

2589

cDNA position

2724

gDNA position

26832

Chromosomal position

22757320

Speed

0.04 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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