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: ENST00000542393
Querying Taster for transcript #2: ENST00000307790
Querying Taster for transcript #3: ENST00000397771
MT speed 0.49 s - this script 2.957624 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
ENST00000307790(MANE Select)	ASCC2	Deleterious	89\|11	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000542393	ASCC2	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000397771	ASCC2	Deleterious	97\|3	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

22:29789153C>T_2_ENST00000307790

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 89|11 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:29789153C>T (GRCh38)

Gene symbol

ASCC2

Gene constraints

LOEUF: 0.59, LOF (oe): 0.46, misssense (oe): 0.86, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000307790.8

Genbank transcript ID

NM_032204 (exact from MANE), NM_001369924 (by similarity), NM_001369920 (by similarity)

UniProt / AlphaMissense peptide

ASCC2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2134G>A
g.49152G>A

AA changes

AAE:	G712S	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748278181
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	6	7

Protein conservation

Species	Match	AA	Alignment
Human		712	G	Y	R	H	D	S	S	T	A	V	A	G	S	P	R	G	H	G	Q	S	R	E	T	T
mutated	not conserved	712	G	Y	R	H	D	S	S	T	A	V	A	S	S	P	R	G	H	G	Q	S
Ptroglodytes	all identical	712	G	Y	R	H	D	S	S	T	A	V	A	G	S	P	R	G	H	G	Q	S
Mmulatta	all identical	708	G	Y	R	H	D	S	S	T	A	M	A	G	S	P	R	G	H	G	Q	S
Fcatus	all identical	708	G	Y	R	H	D	S	S	T	A	V	A	G	S	P	R	G	H	G	Q	N
Mmusculus	all identical	705	G	Y	R	P	E	N	S	T	A	V	T	G	G	P	R	G	H	G	Q
Ggallus	all identical	711	G	H	K	H	D	S	S	-	A	V	V	G	N	T	K	G
Trubripes	all identical	713			R	P	E	R	P	S	N	V	V	G	K	P	K	G	Q	G	Q	T	L	E	T
Drerio	no homologue
Dmelanogaster	all identical	691	S	G	G	H	G	A	S	P	S	V	V	G	A	P	K	G	Q	G	Q	S	Q	Q	T
Celegans	no homologue
Xtropicalis	all identical	689	G	F	R	H	D	N	T	A	A	V	A	G	S	G	R	G	Q	G	Q	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	757	CHAIN		lost
699	757	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.369	1
	7.369	1
(flanking)	-2.707	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

22

Strand

-1

Original gDNA sequence snippet

ACAGCTCAACAGCAGTGGCCGGCAGCCCCCGAGGCCATGGG

Altered gDNA sequence snippet

ACAGCTCAACAGCAGTGGCCAGCAGCCCCCGAGGCCATGGG

Original cDNA sequence snippet

ACAGCTCAACAGCAGTGGCCGGCAGCCCCCGAGGCCATGGG

Altered cDNA sequence snippet

ACAGCTCAACAGCAGTGGCCAGCAGCCCCCGAGGCCATGGG

Wildtype AA sequence

MPALPLDQLQ ITHKDPKTGK LRTSPALHPE QKADRYFVLY KPPPKDNIPA LVEEYLERAT
FVANDLDWLL ALPHDKFWCQ VIFDETLQKC LDSYLRYVPR KFDEGVASAP EVVDMQKRLH
RSVFLTFLRM STHKESKDHF ISPSAFGEIL YNNFLFDIPK ILDLCVLFGK GNSPLLQKMI
GNIFTQQPSY YSDLDETLPT ILQVFSNILQ HCGLQGDGAN TTPQKLEERG RLTPSDMPLL
ELKDIVLYLC DTCTTLWAFL DIFPLACQTF QKHDFCYRLA SFYEAAIPEM ESAIKKRRLE
DSKLLGDLWQ RLSHSRKKLM EIFHIILNQI CLLPILESSC DNIQGFIEEF LQIFSSLLQE
KRFLRDYDAL FPVAEDISLL QQASSVLDET RTAYILQAVE SAWEGVDRRK ATDAKDPSVI
EEPNGEPNGV TVTAEAVSQA SSHPENSEEE ECMGAAAAVG PAMCGVELDS LISQVKDLLP
DLGEGFILAC LEYYHYDPEQ VINNILEERL APTLSQLDRN LDREMKPDPT PLLTSRHNVF
QNDEFDVFSR DSVDLSRVHK GKSTRKEENT RSLLNDKRAV AAQRQRYEQY SVVVEEVPLQ
PGESLPYHSV YYEDEYDDTY DGNQVGANDA DSDDELISRR PFTIPQVLRT KVPREGQEED
DDDEEDDADE EAPKPDHFVQ DPAVLREKAE ARRMAFLAKK GYRHDSSTAV AGSPRGHGQS
RETTQERRKK EANKATRANH NRRTMADRKR SKGMIPS*

Mutated AA sequence

MPALPLDQLQ ITHKDPKTGK LRTSPALHPE QKADRYFVLY KPPPKDNIPA LVEEYLERAT
FVANDLDWLL ALPHDKFWCQ VIFDETLQKC LDSYLRYVPR KFDEGVASAP EVVDMQKRLH
RSVFLTFLRM STHKESKDHF ISPSAFGEIL YNNFLFDIPK ILDLCVLFGK GNSPLLQKMI
GNIFTQQPSY YSDLDETLPT ILQVFSNILQ HCGLQGDGAN TTPQKLEERG RLTPSDMPLL
ELKDIVLYLC DTCTTLWAFL DIFPLACQTF QKHDFCYRLA SFYEAAIPEM ESAIKKRRLE
DSKLLGDLWQ RLSHSRKKLM EIFHIILNQI CLLPILESSC DNIQGFIEEF LQIFSSLLQE
KRFLRDYDAL FPVAEDISLL QQASSVLDET RTAYILQAVE SAWEGVDRRK ATDAKDPSVI
EEPNGEPNGV TVTAEAVSQA SSHPENSEEE ECMGAAAAVG PAMCGVELDS LISQVKDLLP
DLGEGFILAC LEYYHYDPEQ VINNILEERL APTLSQLDRN LDREMKPDPT PLLTSRHNVF
QNDEFDVFSR DSVDLSRVHK GKSTRKEENT RSLLNDKRAV AAQRQRYEQY SVVVEEVPLQ
PGESLPYHSV YYEDEYDDTY DGNQVGANDA DSDDELISRR PFTIPQVLRT KVPREGQEED
DDDEEDDADE EAPKPDHFVQ DPAVLREKAE ARRMAFLAKK GYRHDSSTAV ASSPRGHGQS
RETTQERRKK EANKATRANH NRRTMADRKR SKGMIPS*

Position of stopcodon in wt / mu CDS

2274 / 2274

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

758 / 758

Position of stopcodon in wt / mu cDNA

2388 / 2388

Position of start ATG in wt / mu cDNA

115 / 115

Last intron/exon boundary

2216

Theoretical NMD boundary in CDS

2051

Length of CDS

2274

Coding sequence (CDS) position

2134

cDNA position

2248

gDNA position

49152

Chromosomal position

29789153

Speed

0.22 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:

22:29789153C>T_1_ENST00000542393

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:29789153C>T (GRCh38)

Gene symbol

ASCC2

Gene constraints

LOEUF: 0.62, LOF (oe): 0.48, misssense (oe): 0.87, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000542393.5

Genbank transcript ID

NM_001369942 (by similarity), NM_001369947 (by similarity), NM_001369936 (by similarity), NM_001369949 (by similarity), NM_001369939 (by similarity), NM_001369943 (by similarity), NM_001369941 (by similarity), NM_001369934 (by similarity), NM_001369945 (by similarity), NM_001369940 (by similarity), NM_001369950 (by similarity), NM_001242906 (by similarity), NM_001369930 (by similarity), NM_001369929 (by similarity), NM_001369927 (by similarity), NM_001369925 (by similarity), NM_001369948 (by similarity), NM_001369935 (by similarity), NM_001369944 (by similarity), NM_001369937 (by similarity), NM_001369933 (by similarity), NM_001369932 (by similarity), NM_001369926 (by similarity), NM_001369938 (by similarity), NM_001369946 (by similarity), NM_001369928 (by similarity), NM_001369931 (by similarity)

UniProt / AlphaMissense peptide

ASCC2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1906G>A
g.49152G>A

AA changes

AAE:	G636S	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748278181
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	6	7

Protein conservation

Species	Match	AA	Alignment
Human		636	G	Y	R	H	D	S	S	T	A	V	A	G	S	P	R	G	H	G	Q	S	R	E	T	T
mutated	not conserved	636	G	Y	R	H	D	S	S	T	A	V	A	S	S	P	R	G	H	G	Q	S	R	E	T
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	757	CHAIN		lost
617	687	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.369	1
	7.369	1
(flanking)	-2.707	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

22

Strand

-1

Original gDNA sequence snippet

ACAGCTCAACAGCAGTGGCCGGCAGCCCCCGAGGCCATGGG

Altered gDNA sequence snippet

ACAGCTCAACAGCAGTGGCCAGCAGCCCCCGAGGCCATGGG

Original cDNA sequence snippet

ACAGCTCAACAGCAGTGGCCGGCAGCCCCCGAGGCCATGGG

Altered cDNA sequence snippet

ACAGCTCAACAGCAGTGGCCAGCAGCCCCCGAGGCCATGGG

Wildtype AA sequence

MPALPLDQLQ ITHKDPKTGK LRTSPALVIF DETLQKCLDS YLRYVPRKFD EGVASAPEVV
DMQKRLHRSV FLTFLRMSTH KESKILDLCV LFGKGNSPLL QKMIGNIFTQ QPSYYSDLDE
TLPTILQVFS NILQHCGLQG DGANTTPQKL EERGRLTPSD MPLLELKDIV LYLCDTCTTL
WAFLDIFPLA CQTFQKHDFC YRLASFYEAA IPEMESAIKK RRLEDSKLLG DLWQRLSHSR
KKLMEIFHII LNQICLLPIL ESSCDNIQGF IEEFLQIFSS LLQEKRFLRD YDALFPVAED
ISLLQQASSV LDETRTAYIL QAVESAWEGV DRRKATDAKD PSVIEEPNGE PNGVTVTAEA
VSQASSHPEN SEEEECMGAA AAVGPAMCGV ELDSLISQVK DLLPDLGEGF ILACLEYYHY
DPEQVINNIL EERLAPTLSQ LDRNLDREMK PDPTPLLTSR HNVFQNDEFD VFSRDSVDLS
RVHKGKSTRK EENTRSLLND KRAVAAQRQR YEQYSVVVEE VPLQPGESLP YHSVYYEDEY
DDTYDGNQVG ANDADSDDEL ISRRPFTIPQ VLRTKVPREG QEEDDDDEED DADEEAPKPD
HFVQDPAVLR EKAEARRMAF LAKKGYRHDS STAVAGSPRG HGQSRETTQE RRKKEANKAT
RANHNRRTMA DRKRSKGMIP S*

Mutated AA sequence

MPALPLDQLQ ITHKDPKTGK LRTSPALVIF DETLQKCLDS YLRYVPRKFD EGVASAPEVV
DMQKRLHRSV FLTFLRMSTH KESKILDLCV LFGKGNSPLL QKMIGNIFTQ QPSYYSDLDE
TLPTILQVFS NILQHCGLQG DGANTTPQKL EERGRLTPSD MPLLELKDIV LYLCDTCTTL
WAFLDIFPLA CQTFQKHDFC YRLASFYEAA IPEMESAIKK RRLEDSKLLG DLWQRLSHSR
KKLMEIFHII LNQICLLPIL ESSCDNIQGF IEEFLQIFSS LLQEKRFLRD YDALFPVAED
ISLLQQASSV LDETRTAYIL QAVESAWEGV DRRKATDAKD PSVIEEPNGE PNGVTVTAEA
VSQASSHPEN SEEEECMGAA AAVGPAMCGV ELDSLISQVK DLLPDLGEGF ILACLEYYHY
DPEQVINNIL EERLAPTLSQ LDRNLDREMK PDPTPLLTSR HNVFQNDEFD VFSRDSVDLS
RVHKGKSTRK EENTRSLLND KRAVAAQRQR YEQYSVVVEE VPLQPGESLP YHSVYYEDEY
DDTYDGNQVG ANDADSDDEL ISRRPFTIPQ VLRTKVPREG QEEDDDDEED DADEEAPKPD
HFVQDPAVLR EKAEARRMAF LAKKGYRHDS STAVASSPRG HGQSRETTQE RRKKEANKAT
RANHNRRTMA DRKRSKGMIP S*

Position of stopcodon in wt / mu CDS

2046 / 2046

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

682 / 682

Position of stopcodon in wt / mu cDNA

2190 / 2190

Position of start ATG in wt / mu cDNA

145 / 145

Last intron/exon boundary

2018

Theoretical NMD boundary in CDS

1823

Length of CDS

2046

Coding sequence (CDS) position

1906

cDNA position

2050

gDNA position

49152

Chromosomal position

29789153

Speed

0.14 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:

22:29789153C>T_3_ENST00000397771

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:29789153C>T (GRCh38)

Gene symbol

ASCC2

Gene constraints

LOEUF: 0.59, LOF (oe): 0.46, misssense (oe): 0.86, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000397771.6

Genbank transcript ID

NM_001369923 (by similarity), NM_001369921 (by similarity), NM_001369922 (by similarity)

UniProt / AlphaMissense peptide

ASCC2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2134G>A
g.49152G>A

AA changes

AAE:	G712S	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748278181
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	6	7

Protein conservation

Species	Match	AA	Alignment
Human		712	G	Y	R	H	D	S	S	T	A	V	A	G	S	P	R	G	H	G	Q	S	R	E	T	T
mutated	not conserved	712	G	Y	R	H	D	S	S	T	A	V	A	S	S	P	R	G	H	G	Q	S
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	757	CHAIN		lost
699	757	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.369	1
	7.369	1
(flanking)	-2.707	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

22

Strand

-1

Original gDNA sequence snippet

ACAGCTCAACAGCAGTGGCCGGCAGCCCCCGAGGCCATGGG

Altered gDNA sequence snippet

ACAGCTCAACAGCAGTGGCCAGCAGCCCCCGAGGCCATGGG

Original cDNA sequence snippet

ACAGCTCAACAGCAGTGGCCGGCAGCCCCCGAGGCCATGGG

Altered cDNA sequence snippet

ACAGCTCAACAGCAGTGGCCAGCAGCCCCCGAGGCCATGGG

Wildtype AA sequence

MPALPLDQLQ ITHKDPKTGK LRTSPALHPE QKADRYFVLY KPPPKDNIPA LVEEYLERAT
FVANDLDWLL ALPHDKFWCQ VIFDETLQKC LDSYLRYVPR KFDEGVASAP EVVDMQKRLH
RSVFLTFLRM STHKESKDHF ISPSAFGEIL YNNFLFDIPK ILDLCVLFGK GNSPLLQKMI
GNIFTQQPSY YSDLDETLPT ILQVFSNILQ HCGLQGDGAN TTPQKLEERG RLTPSDMPLL
ELKDIVLYLC DTCTTLWAFL DIFPLACQTF QKHDFCYRLA SFYEAAIPEM ESAIKKRRLE
DSKLLGDLWQ RLSHSRKKLM EIFHIILNQI CLLPILESSC DNIQGFIEEF LQIFSSLLQE
KRFLRDYDAL FPVAEDISLL QQASSVLDET RTAYILQAVE SAWEGVDRRK ATDAKDPSVI
EEPNGEPNGV TVTAEAVSQA SSHPENSEEE ECMGAAAAVG PAMCGVELDS LISQVKDLLP
DLGEGFILAC LEYYHYDPEQ VINNILEERL APTLSQLDRN LDREMKPDPT PLLTSRHNVF
QNDEFDVFSR DSVDLSRVHK GKSTRKEENT RSLLNDKRAV AAQRQRYEQY SVVVEEVPLQ
PGESLPYHSV YYEDEYDDTY DGNQVGANDA DSDDELISRR PFTIPQVLRT KVPREGQEED
DDDEEDDADE EAPKPDHFVQ DPAVLREKAE ARRMAFLAKK GYRHDSSTAV AGSPRGHGQS
RETTQERRKK EANKATRANH NRRTMADRKR SKGMIPS*

Mutated AA sequence

MPALPLDQLQ ITHKDPKTGK LRTSPALHPE QKADRYFVLY KPPPKDNIPA LVEEYLERAT
FVANDLDWLL ALPHDKFWCQ VIFDETLQKC LDSYLRYVPR KFDEGVASAP EVVDMQKRLH
RSVFLTFLRM STHKESKDHF ISPSAFGEIL YNNFLFDIPK ILDLCVLFGK GNSPLLQKMI
GNIFTQQPSY YSDLDETLPT ILQVFSNILQ HCGLQGDGAN TTPQKLEERG RLTPSDMPLL
ELKDIVLYLC DTCTTLWAFL DIFPLACQTF QKHDFCYRLA SFYEAAIPEM ESAIKKRRLE
DSKLLGDLWQ RLSHSRKKLM EIFHIILNQI CLLPILESSC DNIQGFIEEF LQIFSSLLQE
KRFLRDYDAL FPVAEDISLL QQASSVLDET RTAYILQAVE SAWEGVDRRK ATDAKDPSVI
EEPNGEPNGV TVTAEAVSQA SSHPENSEEE ECMGAAAAVG PAMCGVELDS LISQVKDLLP
DLGEGFILAC LEYYHYDPEQ VINNILEERL APTLSQLDRN LDREMKPDPT PLLTSRHNVF
QNDEFDVFSR DSVDLSRVHK GKSTRKEENT RSLLNDKRAV AAQRQRYEQY SVVVEEVPLQ
PGESLPYHSV YYEDEYDDTY DGNQVGANDA DSDDELISRR PFTIPQVLRT KVPREGQEED
DDDEEDDADE EAPKPDHFVQ DPAVLREKAE ARRMAFLAKK GYRHDSSTAV ASSPRGHGQS
RETTQERRKK EANKATRANH NRRTMADRKR SKGMIPS*

Position of stopcodon in wt / mu CDS

2274 / 2274

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

758 / 758

Position of stopcodon in wt / mu cDNA

2452 / 2452

Position of start ATG in wt / mu cDNA

179 / 179

Last intron/exon boundary

2280

Theoretical NMD boundary in CDS

2051

Length of CDS

2274

Coding sequence (CDS) position

2134

cDNA position

2312

gDNA position

49152

Chromosomal position

29789153

Speed

0.13 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