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: ENST00000676193
Querying Taster for transcript #2: ENST00000331373
Querying Taster for transcript #3: ENST00000674937
MT speed 0.11 s - this script 2.562081 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
ENST00000331373(MANE Select)	POMK	Deleterious	80\|20	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000676193	POMK	Deleterious	82\|18	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000674937	POMK	Deleterious	86\|14	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD

MutationT@ster 2025

Variant:

8:43122389A>G_2_ENST00000331373

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Prediction:

DeleteriousPermalink

Summary:

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

Model: simple_aae
Tree vote: 80|20 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:43122389A>G (GRCh38)

Gene symbol

POMK

Gene constraints

LOEUF: 1.12, LOF (oe): 0.79, misssense (oe): 0.90, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000331373.10

Genbank transcript ID

NM_032237 (exact from MANE), NM_001277971 (by similarity)

UniProt / AlphaMissense peptide

SG196_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.565A>G
g.28892A>G

AA changes

AAE:	I189V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149297443
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	8	1462	1470

Protein conservation

Species	Match	AA	Alignment
Human		189	R	L	E	L	A	M	D	Y	V	S	I	I	N	Y	L	H	H	S	P	V	G	T	R	V
mutated	all conserved	189				L	A	M	D	Y	V	S	I	V	N	Y	L	H	H	S	P	V	G	T	R
Ptroglodytes	all identical	189				L	A	M	D	Y	V	S	I	I	N	Y	L	H	H	S	P	V	G	T	R
Mmulatta	no homologue
Fcatus	all identical	212				L	A	M	N	Y	V	A	I	I	H	Y	L	H	H	S	P	L	G	T	L
Mmusculus	all identical	188							E	Y	V	S	I	I	N	Y	L	H	H	S	P	L	G	T	R
Ggallus	all identical	191		L	M	L	A	I	D	Y	V	S	I	I	H	Y	L	H	S	S	P	L	G	T	L
Trubripes	all conserved	190	R	L	L	L	A	V	D	Y	V	S	I	L	H	F	L	H	N	S	P	V	G
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	190	R	L	K	L	A	M	E	Y	V	S	I	I	N	Y	L	H	T	S	P	H	G	T	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	350	CHAIN		lost
44	350	TOPO_DOM	Lumenal	lost
81	350	DOMAIN	Protein kinase	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.868	1
	1.393	1
(flanking)	5.725	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

CCATGGACTATGTCAGCATCATTAATTACCTGCACCACAGC

Altered gDNA sequence snippet

CCATGGACTATGTCAGCATCGTTAATTACCTGCACCACAGC

Original cDNA sequence snippet

CCATGGACTATGTCAGCATCATTAATTACCTGCACCACAGC

Altered cDNA sequence snippet

CCATGGACTATGTCAGCATCGTTAATTACCTGCACCACAGC

Wildtype AA sequence

MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV DPTHCPYGHF
RIGQMKNCSP WLSCEELRTE VRQLKRVGEG AVKRVFLSEW KEHKVALSQL TSLEMKDDFL
HGLQMLKSLQ GTHVVTLLGY CEDDNTMLTE YHPLGSLSNL EETLNLSKYQ NVNTWQHRLE
LAMDYVSIIN YLHHSPVGTR VMCDSNDLPK TLSQYLLTSN FSILANDLDA LPLVNHSSGM
LVKCGHRELH GDFVAPEQLW PYGEDVPFHD DLMPSYDEKI DIWKIPDISS FLLGHIEGSD
MVRFHLFDIH KACKSQTPSE RPTAQDVLET YQKVLDTLRD AMMSQAREML *

Mutated AA sequence

MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV DPTHCPYGHF
RIGQMKNCSP WLSCEELRTE VRQLKRVGEG AVKRVFLSEW KEHKVALSQL TSLEMKDDFL
HGLQMLKSLQ GTHVVTLLGY CEDDNTMLTE YHPLGSLSNL EETLNLSKYQ NVNTWQHRLE
LAMDYVSIVN YLHHSPVGTR VMCDSNDLPK TLSQYLLTSN FSILANDLDA LPLVNHSSGM
LVKCGHRELH GDFVAPEQLW PYGEDVPFHD DLMPSYDEKI DIWKIPDISS FLLGHIEGSD
MVRFHLFDIH KACKSQTPSE RPTAQDVLET YQKVLDTLRD AMMSQAREML *

Position of stopcodon in wt / mu CDS

1053 / 1053

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

351 / 351

Position of stopcodon in wt / mu cDNA

1311 / 1311

Position of start ATG in wt / mu cDNA

259 / 259

Last intron/exon boundary

540

Theoretical NMD boundary in CDS

231

Length of CDS

1053

Coding sequence (CDS) position

565

cDNA position

823

gDNA position

28892

Chromosomal position

43122389

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

Back to summary table

MutationT@ster 2025

Variant:

8:43122389A>G_1_ENST00000676193

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

Model: simple_aae
Tree vote: 82|18 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:43122389A>G (GRCh38)

Gene symbol

POMK

Gene constraints

LOEUF: 1.12, LOF (oe): 0.79, misssense (oe): 0.90, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000676193.1

Genbank transcript ID

UniProt / AlphaMissense peptide

SG196_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.565A>G
g.28892A>G

AA changes

AAE:	I189V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149297443
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	8	1462	1470

Protein conservation

Species	Match	AA	Alignment
Human		189	R	L	E	L	A	M	D	Y	V	S	I	I	N	Y	L	H	H	S	P	V	G	T	R	V
mutated	all conserved	189				L	A	M	D	Y	V	S	I	V	N	Y	L	H	H	S	P	V	G	T	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	350	CHAIN		lost
44	350	TOPO_DOM	Lumenal	lost
81	350	DOMAIN	Protein kinase	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.868	1
	1.393	1
(flanking)	5.725	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

CCATGGACTATGTCAGCATCATTAATTACCTGCACCACAGC

Altered gDNA sequence snippet

CCATGGACTATGTCAGCATCGTTAATTACCTGCACCACAGC

Original cDNA sequence snippet

CCATGGACTATGTCAGCATCATTAATTACCTGCACCACAGC

Altered cDNA sequence snippet

CCATGGACTATGTCAGCATCGTTAATTACCTGCACCACAGC

Wildtype AA sequence

MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV DPTHCPYGHF
RIGQMKNCSP WLSCEELRTE VRQLKRVGEG AVKRVFLSEW KEHKVALSQL TSLEMKDDFL
HGLQMLKSLQ GTHVVTLLGY CEDDNTMLTE YHPLGSLSNL EETLNLSKYQ NVNTWQHRLE
LAMDYVSIIN YLHHSPVGTR VMCDSNDLPK TLSQYLLTSN FSILANDLDA LPLVNHSSGM
LVKCGHRELH GDFVAPEQLW PYGEDVPFHD DLMPSYDEKI DIWKIPDISS FLLGHIEGSD
MVRFHLFDIH KACKSQTPSE RPTAQDVLET YQKVLDTLRD AMMSQAREML *

Mutated AA sequence

MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV DPTHCPYGHF
RIGQMKNCSP WLSCEELRTE VRQLKRVGEG AVKRVFLSEW KEHKVALSQL TSLEMKDDFL
HGLQMLKSLQ GTHVVTLLGY CEDDNTMLTE YHPLGSLSNL EETLNLSKYQ NVNTWQHRLE
LAMDYVSIVN YLHHSPVGTR VMCDSNDLPK TLSQYLLTSN FSILANDLDA LPLVNHSSGM
LVKCGHRELH GDFVAPEQLW PYGEDVPFHD DLMPSYDEKI DIWKIPDISS FLLGHIEGSD
MVRFHLFDIH KACKSQTPSE RPTAQDVLET YQKVLDTLRD AMMSQAREML *

Position of stopcodon in wt / mu CDS

1053 / 1053

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

351 / 351

Position of stopcodon in wt / mu cDNA

1232 / 1232

Position of start ATG in wt / mu cDNA

180 / 180

Last intron/exon boundary

461

Theoretical NMD boundary in CDS

231

Length of CDS

1053

Coding sequence (CDS) position

565

cDNA position

744

gDNA position

28892

Chromosomal position

43122389

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

Back to summary table

MutationT@ster 2025

Variant:

8:43122389A>G_3_ENST00000674937

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 86|14 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:43122389A>G (GRCh38)

Gene symbol

POMK

Gene constraints

LOEUF: 0.99, LOF (oe): 0.67, misssense (oe): 0.89, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000674937.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.523A>G
g.28892A>G

AA changes

AAE:	I175V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149297443
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	8	1462	1470

Protein conservation

Species	Match	AA	Alignment
Human		175	R	L	E	L	A	M	D	Y	V	S	I	I	N	Y	L	H	H	S	P	V	G	T	R	V
mutated	all conserved	175	R	L	E	L	A	M	D	Y	V	S	I	V	N	Y	L	H	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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.868	1
	1.393	1
(flanking)	5.725	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

CCATGGACTATGTCAGCATCATTAATTACCTGCACCACAGC

Altered gDNA sequence snippet

CCATGGACTATGTCAGCATCGTTAATTACCTGCACCACAGC

Original cDNA sequence snippet

CCATGGACTATGTCAGCATCATTAATTACCTGCACCACAGC

Altered cDNA sequence snippet

CCATGGACTATGTCAGCATCGTTAATTACCTGCACCACAGC

Wildtype AA sequence

MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV DPTHCPYGHF
RIGQMKNCSP WLSCEELRTE VFLSEWKEHK VALSQLTSLE MKDDFLHGLQ MLKSLQGTHV
VTLLGYCEDD NTMLTEYHPL GSLSNLEETL NLSKYQNVNT WQHRLELAMD YVSIINYLHH
SPVGTRVMCD SNDLPKTLSQ YLLTSNFSIL ANDLDALPLV NHSSGMLVKC GHRELHGDFV
APEQLWPYGE DVPFHDDLMP SYDEKIDIWK IPDISSFLLG HIEGSDMVRF HLFDIHKACK
SQTPSERPTA QDVLETYQKV LDTLRDAMMS QAREML*

Mutated AA sequence

MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV DPTHCPYGHF
RIGQMKNCSP WLSCEELRTE VFLSEWKEHK VALSQLTSLE MKDDFLHGLQ MLKSLQGTHV
VTLLGYCEDD NTMLTEYHPL GSLSNLEETL NLSKYQNVNT WQHRLELAMD YVSIVNYLHH
SPVGTRVMCD SNDLPKTLSQ YLLTSNFSIL ANDLDALPLV NHSSGMLVKC GHRELHGDFV
APEQLWPYGE DVPFHDDLMP SYDEKIDIWK IPDISSFLLG HIEGSDMVRF HLFDIHKACK
SQTPSERPTA QDVLETYQKV LDTLRDAMMS QAREML*

Position of stopcodon in wt / mu CDS

1011 / 1011

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

337 / 337

Position of stopcodon in wt / mu cDNA

1032 / 1032

Position of start ATG in wt / mu cDNA

22 / 22

Last intron/exon boundary

261

Theoretical NMD boundary in CDS

189

Length of CDS

1011

Coding sequence (CDS) position

523

cDNA position

544

gDNA position

28892

Chromosomal position

43122389

Speed

0.03 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