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: ENST00000523374
Querying Taster for transcript #2: ENST00000414387
Querying Taster for transcript #3: ENST00000683375
MT speed 0.19 s - this script 2.641371 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
ENST00000523374	ZNF674	Benign	54\|46	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000414387	ZNF674	Benign	54\|46	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000683375(MANE Select)	ZNF674	Benign	54\|46	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD

MutationT@ster 2025

Variant:

23:46500464A>C_1_ENST00000523374

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Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 54|46 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:46500464A>C (GRCh38)

Gene symbol

ZNF674

Gene constraints

no data

Ensembl transcript ID

ENST00000523374.5

Genbank transcript ID

NM_001039891 (by similarity)

UniProt / AlphaMissense peptide

ZN674_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1125T>G
g.44994T>G

AA changes

AAE:	H375Q	?
Score:	24

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs142411452
gnomAD	homo-/hemizygous (C/C)	heterozygous	allele carriers
	250	567	817

Protein conservation

Species	Match	AA	Alignment
Human		375	K	A	S	D	E	K	P	S	P	T	K	H	W	R	T	H	T	K	E	N	I	Y	E	C
mutated	not conserved	375	K	A	S	D	E	K	P	S	P	T	K	Q	W	R	T	H	T	K	E	N	I	Y	E
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	581	CHAIN		lost
357	377	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

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

23

Strand

-1

Original gDNA sequence snippet

AAGCCCAGTCCCACTAAACATTGGAGAACTCATACAAAAGA

Altered gDNA sequence snippet

AAGCCCAGTCCCACTAAACAGTGGAGAACTCATACAAAAGA

Original cDNA sequence snippet

AAGCCCAGTCCCACTAAACATTGGAGAACTCATACAAAAGA

Altered cDNA sequence snippet

AAGCCCAGTCCCACTAAACAGTGGAGAACTCATACAAAAGA

Wildtype AA sequence

MAMSQESLTF KDVFVDFTLE EWQQLDSAQK NLYRDVMLEN YSHLVSVGHL VGKPDVIFRL
GPGDESWMAD GGTPVRTCAG EDRPEVWEVD EQIDHYKESQ DKFLWQAAFI GKETLKDESG
QECKICRKII YLNTDFVSVK QRLPKYYSWE RCSKHHLNFL GQNRSYVRKK DDGCKAYWKV
CLHYNLHKAQ PAERFFDPNQ RGKALHQKQA LRKSQRSQTG EKLYKCTECG KVFIQKANLV
VHQRTHTGEK PYECCECAKA FSQKSTLIAH QRTHTGEKPY ECSECGKTFI QKSTLIKHQR
THTGEKPFVC DKCPKAFKSS YHLIRHEKTH IRQAFYKGIK CTTSSLIYQR IHTSEKPQCS
EHGKASDEKP SPTKHWRTHT KENIYECSKC GKSFRGKSHL SVHQRIHTGE KPYECSICGK
TFSGKSHLSV HHRTHTGEKP YECRRCGKAF GEKSTLIVHQ RMHTGEKPYK CNECGKAFSE
KSPLIKHQRI HTGERPYECT DCKKAFSRKS TLIKHQRIHT GEKPYKCSEC GKAFSVKSTL
IVHHRTHTGE KPYECRDCGK AFSGKSTLIK HQRSHTGDKN L*

Mutated AA sequence

MAMSQESLTF KDVFVDFTLE EWQQLDSAQK NLYRDVMLEN YSHLVSVGHL VGKPDVIFRL
GPGDESWMAD GGTPVRTCAG EDRPEVWEVD EQIDHYKESQ DKFLWQAAFI GKETLKDESG
QECKICRKII YLNTDFVSVK QRLPKYYSWE RCSKHHLNFL GQNRSYVRKK DDGCKAYWKV
CLHYNLHKAQ PAERFFDPNQ RGKALHQKQA LRKSQRSQTG EKLYKCTECG KVFIQKANLV
VHQRTHTGEK PYECCECAKA FSQKSTLIAH QRTHTGEKPY ECSECGKTFI QKSTLIKHQR
THTGEKPFVC DKCPKAFKSS YHLIRHEKTH IRQAFYKGIK CTTSSLIYQR IHTSEKPQCS
EHGKASDEKP SPTKQWRTHT KENIYECSKC GKSFRGKSHL SVHQRIHTGE KPYECSICGK
TFSGKSHLSV HHRTHTGEKP YECRRCGKAF GEKSTLIVHQ RMHTGEKPYK CNECGKAFSE
KSPLIKHQRI HTGERPYECT DCKKAFSRKS TLIKHQRIHT GEKPYKCSEC GKAFSVKSTL
IVHHRTHTGE KPYECRDCGK AFSGKSTLIK HQRSHTGDKN L*

Position of stopcodon in wt / mu CDS

1746 / 1746

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

582 / 582

Position of stopcodon in wt / mu cDNA

1957 / 1957

Position of start ATG in wt / mu cDNA

212 / 212

Last intron/exon boundary

464

Theoretical NMD boundary in CDS

202

Length of CDS

1746

Coding sequence (CDS) position

1125

cDNA position

1336

gDNA position

44994

Chromosomal position

46500464

Speed

0.07 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:

23:46500464A>C_2_ENST00000414387

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 54|46 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:46500464A>C (GRCh38)

Gene symbol

ZNF674

Gene constraints

no data

Ensembl transcript ID

ENST00000414387.6

Genbank transcript ID

NM_001146291 (by similarity)

UniProt / AlphaMissense peptide

ZN674_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1107T>G
g.44994T>G

AA changes

AAE:	H369Q	?
Score:	24

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs142411452
gnomAD	homo-/hemizygous (C/C)	heterozygous	allele carriers
	250	567	817

Protein conservation

Species	Match	AA	Alignment
Human		369	K	A	S	D	E	K	P	S	P	T	K	H	W	R	T	H	T	K	E	N	I	Y	E	C
mutated	not conserved	369				D	E	K	P	S	P	T	K	Q	W	R	T	H	T	K	E	N	I	Y	E
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	581	CHAIN		lost
357	377	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

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

23

Strand

-1

Original gDNA sequence snippet

AAGCCCAGTCCCACTAAACATTGGAGAACTCATACAAAAGA

Altered gDNA sequence snippet

AAGCCCAGTCCCACTAAACAGTGGAGAACTCATACAAAAGA

Original cDNA sequence snippet

AAGCCCAGTCCCACTAAACATTGGAGAACTCATACAAAAGA

Altered cDNA sequence snippet

AAGCCCAGTCCCACTAAACAGTGGAGAACTCATACAAAAGA

Wildtype AA sequence

MAMSQESLTF KDVFVDFTLE EWQQLDSAQK NLYRDVMLEN YSHLVSVGHL VGKPDVIFRL
GPGDESWMAD GGTPVRTCAV WEVDEQIDHY KESQDKFLWQ AAFIGKETLK DESGQECKIC
RKIIYLNTDF VSVKQRLPKY YSWERCSKHH LNFLGQNRSY VRKKDDGCKA YWKVCLHYNL
HKAQPAERFF DPNQRGKALH QKQALRKSQR SQTGEKLYKC TECGKVFIQK ANLVVHQRTH
TGEKPYECCE CAKAFSQKST LIAHQRTHTG EKPYECSECG KTFIQKSTLI KHQRTHTGEK
PFVCDKCPKA FKSSYHLIRH EKTHIRQAFY KGIKCTTSSL IYQRIHTSEK PQCSEHGKAS
DEKPSPTKHW RTHTKENIYE CSKCGKSFRG KSHLSVHQRI HTGEKPYECS ICGKTFSGKS
HLSVHHRTHT GEKPYECRRC GKAFGEKSTL IVHQRMHTGE KPYKCNECGK AFSEKSPLIK
HQRIHTGERP YECTDCKKAF SRKSTLIKHQ RIHTGEKPYK CSECGKAFSV KSTLIVHHRT
HTGEKPYECR DCGKAFSGKS TLIKHQRSHT GDKNL*

Mutated AA sequence

MAMSQESLTF KDVFVDFTLE EWQQLDSAQK NLYRDVMLEN YSHLVSVGHL VGKPDVIFRL
GPGDESWMAD GGTPVRTCAV WEVDEQIDHY KESQDKFLWQ AAFIGKETLK DESGQECKIC
RKIIYLNTDF VSVKQRLPKY YSWERCSKHH LNFLGQNRSY VRKKDDGCKA YWKVCLHYNL
HKAQPAERFF DPNQRGKALH QKQALRKSQR SQTGEKLYKC TECGKVFIQK ANLVVHQRTH
TGEKPYECCE CAKAFSQKST LIAHQRTHTG EKPYECSECG KTFIQKSTLI KHQRTHTGEK
PFVCDKCPKA FKSSYHLIRH EKTHIRQAFY KGIKCTTSSL IYQRIHTSEK PQCSEHGKAS
DEKPSPTKQW RTHTKENIYE CSKCGKSFRG KSHLSVHQRI HTGEKPYECS ICGKTFSGKS
HLSVHHRTHT GEKPYECRRC GKAFGEKSTL IVHQRMHTGE KPYKCNECGK AFSEKSPLIK
HQRIHTGERP YECTDCKKAF SRKSTLIKHQ RIHTGEKPYK CSECGKAFSV KSTLIVHHRT
HTGEKPYECR DCGKAFSGKS TLIKHQRSHT GDKNL*

Position of stopcodon in wt / mu CDS

1728 / 1728

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

576 / 576

Position of stopcodon in wt / mu cDNA

1868 / 1868

Position of start ATG in wt / mu cDNA

141 / 141

Last intron/exon boundary

378

Theoretical NMD boundary in CDS

187

Length of CDS

1728

Coding sequence (CDS) position

1107

cDNA position

1247

gDNA position

44994

Chromosomal position

46500464

Speed

0.06 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:

23:46500464A>C_3_ENST00000683375

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 54|46 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:46500464A>C (GRCh38)

Gene symbol

ZNF674

Gene constraints

no data

Ensembl transcript ID

ENST00000683375.1

Genbank transcript ID

NM_001190417 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1110T>G
g.44994T>G

AA changes

AAE:	H370Q	?
Score:	24

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs142411452
gnomAD	homo-/hemizygous (C/C)	heterozygous	allele carriers
	250	567	817

Protein conservation

Species	Match	AA	Alignment
Human		370	K	A	S	D	E	K	P	S	P	T	K	H	W	R	T	H	T	K	E	N	I	Y	E	C
mutated	not conserved	370			S	D	E	K	P	S	P	T	K	Q	W	R	T	H	T	K	E	N	I	Y	E
Ptroglodytes	all identical	375	K	A	S	D	E	K	P	S	P	T	K	H	W	R	T	H	T	K	E	N	I	Y	E
Mmulatta	all identical	391			S	D	K	K	P	S	P	T	K	H	W	R	T	H	T	K	E	N	I	Y	E
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

?

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

23

Strand

-1

Original gDNA sequence snippet

AAGCCCAGTCCCACTAAACATTGGAGAACTCATACAAAAGA

Altered gDNA sequence snippet

AAGCCCAGTCCCACTAAACAGTGGAGAACTCATACAAAAGA

Original cDNA sequence snippet

AAGCCCAGTCCCACTAAACATTGGAGAACTCATACAAAAGA

Altered cDNA sequence snippet

AAGCCCAGTCCCACTAAACAGTGGAGAACTCATACAAAAGA

Wildtype AA sequence

MAMSQESLTF KDVFVDFTLE EWQQLDSAQK NLYRDVMLEN YSHLVSVGHL VGKPDVIFRL
GPGDESWMAD GGTPVRTCAE VWEVDEQIDH YKESQDKFLW QAAFIGKETL KDESGQECKI
CRKIIYLNTD FVSVKQRLPK YYSWERCSKH HLNFLGQNRS YVRKKDDGCK AYWKVCLHYN
LHKAQPAERF FDPNQRGKAL HQKQALRKSQ RSQTGEKLYK CTECGKVFIQ KANLVVHQRT
HTGEKPYECC ECAKAFSQKS TLIAHQRTHT GEKPYECSEC GKTFIQKSTL IKHQRTHTGE
KPFVCDKCPK AFKSSYHLIR HEKTHIRQAF YKGIKCTTSS LIYQRIHTSE KPQCSEHGKA
SDEKPSPTKH WRTHTKENIY ECSKCGKSFR GKSHLSVHQR IHTGEKPYEC SICGKTFSGK
SHLSVHHRTH TGEKPYECRR CGKAFGEKST LIVHQRMHTG EKPYKCNECG KAFSEKSPLI
KHQRIHTGER PYECTDCKKA FSRKSTLIKH QRIHTGEKPY KCSECGKAFS VKSTLIVHHR
THTGEKPYEC RDCGKAFSGK STLIKHQRSH TGDKNL*

Mutated AA sequence

MAMSQESLTF KDVFVDFTLE EWQQLDSAQK NLYRDVMLEN YSHLVSVGHL VGKPDVIFRL
GPGDESWMAD GGTPVRTCAE VWEVDEQIDH YKESQDKFLW QAAFIGKETL KDESGQECKI
CRKIIYLNTD FVSVKQRLPK YYSWERCSKH HLNFLGQNRS YVRKKDDGCK AYWKVCLHYN
LHKAQPAERF FDPNQRGKAL HQKQALRKSQ RSQTGEKLYK CTECGKVFIQ KANLVVHQRT
HTGEKPYECC ECAKAFSQKS TLIAHQRTHT GEKPYECSEC GKTFIQKSTL IKHQRTHTGE
KPFVCDKCPK AFKSSYHLIR HEKTHIRQAF YKGIKCTTSS LIYQRIHTSE KPQCSEHGKA
SDEKPSPTKQ WRTHTKENIY ECSKCGKSFR GKSHLSVHQR IHTGEKPYEC SICGKTFSGK
SHLSVHHRTH TGEKPYECRR CGKAFGEKST LIVHQRMHTG EKPYKCNECG KAFSEKSPLI
KHQRIHTGER PYECTDCKKA FSRKSTLIKH QRIHTGEKPY KCSECGKAFS VKSTLIVHHR
THTGEKPYEC RDCGKAFSGK STLIKHQRSH TGDKNL*

Position of stopcodon in wt / mu CDS

1731 / 1731

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

577 / 577

Position of stopcodon in wt / mu cDNA

1922 / 1922

Position of start ATG in wt / mu cDNA

192 / 192

Last intron/exon boundary

429

Theoretical NMD boundary in CDS

187

Length of CDS

1731

Coding sequence (CDS) position

1110

cDNA position

1301

gDNA position

44994

Chromosomal position

46500464

Speed

0.06 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