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: ENST00000517820
Querying Taster for transcript #2: ENST00000520733
Querying Taster for transcript #3: ENST00000687358
Querying Taster for transcript #4: ENST00000519837
Querying Taster for transcript #5: ENST00000517485
Querying Taster for transcript #6: ENST00000297338
Querying Taster for transcript #7: ENST00000517749
Querying Taster for transcript #8: ENST00000520992
Querying Taster for transcript #9: ENST00000522699
MT speed 0.35 s - this script 2.761242 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000297338(MANE Select)	RAD21	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000687358	RAD21	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000519837	RAD21	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000517485	RAD21	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000517749	RAD21	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000520992	RAD21	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000522699	RAD21	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000520733	UTP23	Deleterious	195\|5	without_aae	No	Single base exchange	N/A
ENST00000517820	UTP23	Deleterious	198\|2	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

8:116847643A>G_6_ENST00000297338

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:116847643A>G (GRCh38)

Gene symbol

RAD21

Gene constraints

LOEUF: 0.34, LOF (oe): 0.21, misssense (oe): 0.63, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000297338.7

Genbank transcript ID

NM_006265 (exact from MANE)

UniProt / AlphaMissense peptide

RAD21_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1753T>C
g.27134T>C

AA changes

AAE:	C585R	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K	F
mutated	not conserved	585	T	G	A	E	S	I	S	L	L	E	L	R	R	N	T	N	R	K	Q	A	A	A	K
Ptroglodytes	all identical	585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K
Mmulatta	all identical	585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K
Fcatus	all identical	585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K
Mmusculus	all identical	589	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K
Ggallus	all identical	587	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K
Trubripes	all identical	589						V	S	L	L	D	L	C	R	N	N	N	R	K	Q	A	A	A	K
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	not conserved	573	S	G	Q	A	D	F	S	S	V	T	A	T	A	K	-	N	R	K	Q	A	A	E	Q
Xtropicalis	all identical	589	T	G	A	E	S	I	S	L	L	D	L	C	R	N	T	N	R

Protein features

Start (aa)	End (aa)	Feature	Details
1	631	CHAIN		lost
280	631	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.895	1
	9.313	1
(flanking)	1.394	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

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered gDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Original cDNA sequence snippet

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered cDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Wildtype AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELCRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Mutated AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELRRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

Position of stopcodon in wt / mu cDNA

2094 / 2094

Position of start ATG in wt / mu cDNA

199 / 199

Last intron/exon boundary

1902

Theoretical NMD boundary in CDS

1653

Length of CDS

1896

Coding sequence (CDS) position

1753

cDNA position

1951

gDNA position

27134

Chromosomal position

116847643

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

Back to summary table

MutationT@ster 2025

Variant:

8:116847643A>G_3_ENST00000687358

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:116847643A>G (GRCh38)

Gene symbol

RAD21

Gene constraints

LOEUF: 0.34, LOF (oe): 0.21, misssense (oe): 0.63, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000687358.1

Genbank transcript ID

UniProt / AlphaMissense peptide

RAD21_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1753T>C
g.27134T>C

AA changes

AAE:	C585R	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K	F
mutated	not conserved	585	T	G	A	E	S	I	S	L	L	E	L	R	R	N	T	N	R	K	Q	A	A	A	K
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	631	CHAIN		lost
280	631	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.895	1
	9.313	1
(flanking)	1.394	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

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered gDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Original cDNA sequence snippet

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered cDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Wildtype AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELCRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Mutated AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELRRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

Position of stopcodon in wt / mu cDNA

2138 / 2138

Position of start ATG in wt / mu cDNA

243 / 243

Last intron/exon boundary

1946

Theoretical NMD boundary in CDS

1653

Length of CDS

1896

Coding sequence (CDS) position

1753

cDNA position

1995

gDNA position

27134

Chromosomal position

116847643

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

Back to summary table

MutationT@ster 2025

Variant:

8:116847643A>G_4_ENST00000519837

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:116847643A>G (GRCh38)

Gene symbol

RAD21

Gene constraints

LOEUF: 0.34, LOF (oe): 0.21, misssense (oe): 0.63, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000519837.6

Genbank transcript ID

UniProt / AlphaMissense peptide

RAD21_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1753T>C
g.27134T>C

AA changes

AAE:	C585R	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K	F
mutated	not conserved	585	T	G	A	E	S	I	S	L	L	E	L	R	R	N	T	N	R	K	Q	A	A	A	K
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	631	CHAIN		lost
280	631	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.895	1
	9.313	1
(flanking)	1.394	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

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered gDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Original cDNA sequence snippet

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered cDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Wildtype AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELCRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Mutated AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELRRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

Position of stopcodon in wt / mu cDNA

2039 / 2039

Position of start ATG in wt / mu cDNA

144 / 144

Last intron/exon boundary

1847

Theoretical NMD boundary in CDS

1653

Length of CDS

1896

Coding sequence (CDS) position

1753

cDNA position

1896

gDNA position

27134

Chromosomal position

116847643

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:

8:116847643A>G_5_ENST00000517485

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:116847643A>G (GRCh38)

Gene symbol

RAD21

Gene constraints

LOEUF: 0.34, LOF (oe): 0.21, misssense (oe): 0.63, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000517485.6

Genbank transcript ID

UniProt / AlphaMissense peptide

RAD21_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1753T>C
g.27134T>C

AA changes

AAE:	C585R	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K	F
mutated	not conserved	585	T	G	A	E	S	I	S	L	L	E	L	R	R	N	T	N	R	K	Q	A	A	A	K
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	631	CHAIN		lost
280	631	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.895	1
	9.313	1
(flanking)	1.394	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

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered gDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Original cDNA sequence snippet

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered cDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Wildtype AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELCRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Mutated AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELRRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

Position of stopcodon in wt / mu cDNA

2094 / 2094

Position of start ATG in wt / mu cDNA

199 / 199

Last intron/exon boundary

1902

Theoretical NMD boundary in CDS

1653

Length of CDS

1896

Coding sequence (CDS) position

1753

cDNA position

1951

gDNA position

27134

Chromosomal position

116847643

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:

8:116847643A>G_7_ENST00000517749

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:116847643A>G (GRCh38)

Gene symbol

RAD21

Gene constraints

LOEUF: 0.34, LOF (oe): 0.21, misssense (oe): 0.63, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000517749.2

Genbank transcript ID

UniProt / AlphaMissense peptide

RAD21_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1753T>C
g.27134T>C

AA changes

AAE:	C585R	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K	F
mutated	not conserved	585	T	G	A	E	S	I	S	L	L	E	L	R	R	N	T	N	R	K	Q	A	A	A	K
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	631	CHAIN		lost
280	631	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.895	1
	9.313	1
(flanking)	1.394	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

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered gDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Original cDNA sequence snippet

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered cDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Wildtype AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELCRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Mutated AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELRRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

Position of stopcodon in wt / mu cDNA

2036 / 2036

Position of start ATG in wt / mu cDNA

141 / 141

Last intron/exon boundary

1844

Theoretical NMD boundary in CDS

1653

Length of CDS

1896

Coding sequence (CDS) position

1753

cDNA position

1893

gDNA position

27134

Chromosomal position

116847643

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

Back to summary table

MutationT@ster 2025

Variant:

8:116847643A>G_8_ENST00000520992

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:116847643A>G (GRCh38)

Gene symbol

RAD21

Gene constraints

LOEUF: 0.34, LOF (oe): 0.21, misssense (oe): 0.63, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000520992.6

Genbank transcript ID

UniProt / AlphaMissense peptide

RAD21_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1753T>C
g.27134T>C

AA changes

AAE:	C585R	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K	F
mutated	not conserved	585	T	G	A	E	S	I	S	L	L	E	L	R	R	N	T	N	R	K	Q	A	A	A	K
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	631	CHAIN		lost
280	631	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.895	1
	9.313	1
(flanking)	1.394	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

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered gDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Original cDNA sequence snippet

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered cDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Wildtype AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELCRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Mutated AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELRRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

Position of stopcodon in wt / mu cDNA

2043 / 2043

Position of start ATG in wt / mu cDNA

148 / 148

Last intron/exon boundary

1851

Theoretical NMD boundary in CDS

1653

Length of CDS

1896

Coding sequence (CDS) position

1753

cDNA position

1900

gDNA position

27134

Chromosomal position

116847643

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:

8:116847643A>G_9_ENST00000522699

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:116847643A>G (GRCh38)

Gene symbol

RAD21

Gene constraints

LOEUF: 0.34, LOF (oe): 0.21, misssense (oe): 0.63, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000522699.2

Genbank transcript ID

UniProt / AlphaMissense peptide

RAD21_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1753T>C
g.27134T>C

AA changes

AAE:	C585R	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		585	T	G	A	E	S	I	S	L	L	E	L	C	R	N	T	N	R	K	Q	A	A	A	K	F
mutated	not conserved	585	T	G	A	E	S	I	S	L	L	E	L	R	R	N	T	N	R	K	Q	A	A	A	K
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	631	CHAIN		lost
280	631	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.895	1
	9.313	1
(flanking)	1.394	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

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered gDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Original cDNA sequence snippet

CTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAA

Altered cDNA sequence snippet

CTATCAGTTTGCTTGAGTTACGTCGAAATACGAACAGAAAA

Wildtype AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELCRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Mutated AA sequence

MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELRRNTNR KQAAAKFYSF
LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I*

Position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

Position of stopcodon in wt / mu cDNA

2083 / 2083

Position of start ATG in wt / mu cDNA

188 / 188

Last intron/exon boundary

1891

Theoretical NMD boundary in CDS

1653

Length of CDS

1896

Coding sequence (CDS) position

1753

cDNA position

1940

gDNA position

27134

Chromosomal position

116847643

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

Back to summary table

MutationT@ster 2025

Variant:

8:116847643A>G_2_ENST00000520733

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 195|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:116847643A>G (GRCh38)

Gene symbol

UTP23

Gene constraints

LOEUF: 1.72, LOF (oe): 0.65, misssense (oe): 0.90, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000520733.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.46-1245A>G
g.81139A>G

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.895	1
	9.313	1
(flanking)	1.394	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

1

Original gDNA sequence snippet

TTTTCTGTTCGTATTTCGACATAACTCAAGCAAACTGATAG

Altered gDNA sequence snippet

TTTTCTGTTCGTATTTCGACGTAACTCAAGCAAACTGATAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MVEEGNPHHY FVATQGTMAK AFDEAFSSET TAAIPEDHEA SAESFCSIFF LPDLDRPLMH
LHPE*

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

133 / 133

Last intron/exon boundary

177

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

195

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

81139

Chromosomal position

116847643

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

Back to summary table

MutationT@ster 2025

Variant:

8:116847643A>G_1_ENST00000517820

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 198|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:116847643A>G (GRCh38)

Gene symbol

UTP23

Gene constraints

LOEUF: 1.46, LOF (oe): 0.58, misssense (oe): 0.85, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000517820.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.189-1245A>G
g.81139A>G

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.895	1
	9.313	1
(flanking)	1.394	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

1

Original gDNA sequence snippet

TTTTCTGTTCGTATTTCGACATAACTCAAGCAAACTGATAG

Altered gDNA sequence snippet

TTTTCTGTTCGTATTTCGACGTAACTCAAGCAAACTGATAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MKITRQKHAK KHLGFFRNNF GVREPYQILL DGTFCQAALR GRIQLREQLP RYLMGETQLC
TTREQWQKPL MKHFPLRQQR QYLKTMKHLL SPFVPSSFFL ILIAP*

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

33 / 33

Last intron/exon boundary

220

Theoretical NMD boundary in CDS

137

Length of CDS

318

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

81139

Chromosomal position

116847643

Speed

0.02 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