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: ENST00000452533
Querying Taster for transcript #2: ENST00000703361
Querying Taster for transcript #3: ENST00000547312
Querying Taster for transcript #4: ENST00000548750
Querying Taster for transcript #5: ENST00000703369
Querying Taster for transcript #6: ENST00000549926
Querying Taster for transcript #7: ENST00000703338
Querying Taster for transcript #8: ENST00000703370
Querying Taster for transcript #9: ENST00000703371
Querying Taster for transcript #10: ENST00000381000
Querying Taster for transcript #11: ENST00000266481
Querying Taster for transcript #12: ENST00000553257
Querying Taster for transcript #13: ENST00000549701
Querying Taster for transcript #14: ENST00000551476
Querying Taster for transcript #15: ENST00000358214
MT speed 0.17 s - this script 2.64063 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length
ENST00000703361	DNM1L	Deleterious	156\|44	without_aae	No	Single base exchange	Normal
ENST00000703369	DNM1L	Deleterious	156\|44	without_aae	No	Single base exchange	Normal
ENST00000549926	DNM1L	Deleterious	156\|44	without_aae	No	Single base exchange	Normal
ENST00000703338	DNM1L	Deleterious	156\|44	without_aae	No	Single base exchange	Normal
ENST00000703370	DNM1L	Deleterious	156\|44	without_aae	No	Single base exchange	Normal
ENST00000703371	DNM1L	Deleterious	156\|44	without_aae	No	Single base exchange	Normal
ENST00000381000	DNM1L	Benign	51\|149	without_aae	No	Single base exchange	Normal
ENST00000553257(MANE Select)	DNM1L	Benign	51\|149	without_aae	No	Single base exchange	Normal
ENST00000547312	DNM1L	Benign	52\|148	without_aae	No	Single base exchange	Normal
ENST00000549701(MANE Select)	DNM1L	Benign	53\|147	without_aae	No	Single base exchange	Normal
ENST00000358214	DNM1L	Benign	53\|147	without_aae	No	Single base exchange	Normal
ENST00000452533	DNM1L	Benign	62\|138	without_aae	No	Single base exchange	Normal
ENST00000266481	DNM1L	Benign	64\|136	without_aae	No	Single base exchange	Normal
ENST00000551476	DNM1L	Benign	76\|124	without_aae	No	Single base exchange	Normal
ENST00000548750	DNM1L	Benign	87\|113	without_aae	No	Single base exchange	Normal

MutationT@ster 2025

Variant:

12:32731017C>T_2_ENST00000703361

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 156|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

no data

Ensembl transcript ID

ENST00000703361.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.714C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGRRTLAV ITKLDLMDAG TDAMDVLMGR VIPVKLGIIG
VVNRSQLDIN NKKSVTDSIR DEYAFLQKKY PSLANRNGTK YLARTLNRLL MHHIRDCLPE
LKTRINVLAA QYQSLLNSYG EPVDDKSATL LQLITKFATE YCNTIEGTAK YIETSELCGG
ARICYIFHET FGRTLESVDP LGGLNTIDIL TAIRNATGPR PALFVPEVSF ELLVKRQIKR
LEEPSLRCVE LVHEEMQRII QHCSNYSTQE LLRFPKLHDA IVEVVTCLLR KRLPVTNEMV
HNLVAIELAY INTKHPDFAD ACGLMNNNIE EQRRNRLARE LPSAVSRDKV ASGGGGVGDG
VQEPTTGNWR GMLKTSKAEE LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE
QRDCEVIERL IKSYFLIVRK NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL
TESEDMAQRR KEAADMLKAL QGASQIIAEI RETHLW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGRRTLAV ITKLDLMDAG TDAMDVLMGR VIPVKLGIIG
VVNRSQLDIN NKKSVTDSIR DEYAFLQKKY PSLANRNGTK YLARTLNRLL MHHIRDCLPE
LKTRINVLAA QYQSLLNSYG EPVDDKSATL LQLITKFATE YCNTIEGTAK YIETSELCGG
ARICYIFHET FGRTLESVDP LGGLNTIDIL TAIRNATGPR PALFVPEVSF ELLVKRQIKR
LEEPSLRCVE LVHEEMQRII QHCSNYSTQE LLRFPKLHDA IVEVVTCLLR KRLPVTNEMV
HNLVAIELAY INTKHPDFAD ACGLMNNNIE EQRRNRLARE LPSAVSRDKV ASGGGGVGDG
VQEPTTGNWR GMLKTSKAEE LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE
QRDCEVIERL IKSYFLIVRK NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL
TESEDMAQRR KEAADMLKAL QGASQIIAEI RETHLW*

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

1814 / 1814

Position of start ATG in wt / mu cDNA

84 / 84

Last intron/exon boundary

1757

Theoretical NMD boundary in CDS

1623

Length of CDS

1731

Coding sequence (CDS) position

714

cDNA position

797

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_5_ENST00000703369

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 156|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

no data

Ensembl transcript ID

ENST00000703369.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.714C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGRRTLAV ITKLDLMDAG TDAMDVLMGR VIPVKLGIIG
VVNRSQLDIN NKKSVTDSIR DEYAFLQKKY PSLANRNGTK YLARTLNRLL MHHIRDCLPE
LKTRINVLAA QYQSLLNSYG EPVDDKSATL LQLITKFATE YCNTIEGTAK YIETSELCGG
ARICYIFHET FGRTLESVDP LGGLNTIDIL TAIRNATGPR PALFVPEVSF ELLVKRQIKR
LEEPSLRCVE LVHEEMQRII QHCSNYSTQE LLRFPKLHDA IVEVVTCLLR KRLPVTNEMV
HNLVAIELAY INTKHPDFAD ACGLMNNNIE EQRRNRLARE LPSAVSRDKS SKVPSALAPA
SQEPSPAASA EADGKVASGG GGVGDGVQEP TTGNWRGMLK TSKAEELLAE EKSKPIPIMP
ASPQKGHAVN LLDVPVPVAR KLSAREQRDC EVIERLIKSY FLIVRKNIQD SVPKAVMHFL
VNHVKDTLQS ELVGQLYKSS LLDDLLTESE DMAQRRKEAA DMLKALQGAS QIIAEIRETH
LW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGRRTLAV ITKLDLMDAG TDAMDVLMGR VIPVKLGIIG
VVNRSQLDIN NKKSVTDSIR DEYAFLQKKY PSLANRNGTK YLARTLNRLL MHHIRDCLPE
LKTRINVLAA QYQSLLNSYG EPVDDKSATL LQLITKFATE YCNTIEGTAK YIETSELCGG
ARICYIFHET FGRTLESVDP LGGLNTIDIL TAIRNATGPR PALFVPEVSF ELLVKRQIKR
LEEPSLRCVE LVHEEMQRII QHCSNYSTQE LLRFPKLHDA IVEVVTCLLR KRLPVTNEMV
HNLVAIELAY INTKHPDFAD ACGLMNNNIE EQRRNRLARE LPSAVSRDKS SKVPSALAPA
SQEPSPAASA EADGKVASGG GGVGDGVQEP TTGNWRGMLK TSKAEELLAE EKSKPIPIMP
ASPQKGHAVN LLDVPVPVAR KLSAREQRDC EVIERLIKSY FLIVRKNIQD SVPKAVMHFL
VNHVKDTLQS ELVGQLYKSS LLDDLLTESE DMAQRRKEAA DMLKALQGAS QIIAEIRETH
LW*

Position of stopcodon in wt / mu CDS

1809 / 1809

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

603 / 603

Position of stopcodon in wt / mu cDNA

1809 / 1809

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

1752

Theoretical NMD boundary in CDS

1701

Length of CDS

1809

Coding sequence (CDS) position

714

cDNA position

714

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_6_ENST00000549926

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 156|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

no data

Ensembl transcript ID

ENST00000549926.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.636C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MTKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKSSKVPSA LAPASQEPSP AASAEADGKL IQDSRRETKN
VASGGGGVGD GVQEPTTGNW RGMLKTSKAE ELLAEEKSKP IPIMPASPQK GHAVNLLDVP
VPVARKLSAR EQRDCEVIER LIKSYFLIVR KNIQDSVPKA VMHFLVNHVK DTLQSELVGQ
LYKSSLLDDL LTESEDMAQR RKEAADMLKA LQGASQIIAE IRETHLW*

Mutated AA sequence

MTKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKSSKVPSA LAPASQEPSP AASAEADGKL IQDSRRETKN
VASGGGGVGD GVQEPTTGNW RGMLKTSKAE ELLAEEKSKP IPIMPASPQK GHAVNLLDVP
VPVARKLSAR EQRDCEVIER LIKSYFLIVR KNIQDSVPKA VMHFLVNHVK DTLQSELVGQ
LYKSSLLDDL LTESEDMAQR RKEAADMLKA LQGASQIIAE IRETHLW*

Position of stopcodon in wt / mu CDS

1764 / 1764

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

588 / 588

Position of stopcodon in wt / mu cDNA

2503 / 2503

Position of start ATG in wt / mu cDNA

740 / 740

Last intron/exon boundary

2446

Theoretical NMD boundary in CDS

1656

Length of CDS

1764

Coding sequence (CDS) position

636

cDNA position

1375

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_7_ENST00000703338

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 156|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

no data

Ensembl transcript ID

ENST00000703338.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.636C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MTKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKSSKVPSA LAPASQEPSP AASAEADGKL IQDSRRETKN
VASGGGGVGD GVQEPTTGNW RGMLKTSKAE ELLAEEKSKP IPIMPASPQK GHAVNLLDVP
VPVARKLSAR EQRDCEVIER LIKSYFLIVR KNIQDSVPKA VMHFLVNHVK DTLQSELVGQ
LYKSSLLDDL LTESEDMAQR RKEAADMLKA LQGASQIIAE IRETHLW*

Mutated AA sequence

MTKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKSSKVPSA LAPASQEPSP AASAEADGKL IQDSRRETKN
VASGGGGVGD GVQEPTTGNW RGMLKTSKAE ELLAEEKSKP IPIMPASPQK GHAVNLLDVP
VPVARKLSAR EQRDCEVIER LIKSYFLIVR KNIQDSVPKA VMHFLVNHVK DTLQSELVGQ
LYKSSLLDDL LTESEDMAQR RKEAADMLKA LQGASQIIAE IRETHLW*

Position of stopcodon in wt / mu CDS

1764 / 1764

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

588 / 588

Position of stopcodon in wt / mu cDNA

2451 / 2451

Position of start ATG in wt / mu cDNA

688 / 688

Last intron/exon boundary

2394

Theoretical NMD boundary in CDS

1656

Length of CDS

1764

Coding sequence (CDS) position

636

cDNA position

1323

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_8_ENST00000703370

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 156|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

no data

Ensembl transcript ID

ENST00000703370.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.636C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MTKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKSSKVPSA LAPASQEPSP AASAEADGKV ASGGGGVGDG
VQEPTTGNWR GMLKTSKAEE LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE
QRDCEVIERL IKSYFLIVRK NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL
TESEDMAQRR KEAADMLKAL QGASQIIAEI RETHLW*

Mutated AA sequence

MTKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKSSKVPSA LAPASQEPSP AASAEADGKV ASGGGGVGDG
VQEPTTGNWR GMLKTSKAEE LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE
QRDCEVIERL IKSYFLIVRK NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL
TESEDMAQRR KEAADMLKAL QGASQIIAEI RETHLW*

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

2335 / 2335

Position of start ATG in wt / mu cDNA

605 / 605

Last intron/exon boundary

2278

Theoretical NMD boundary in CDS

1623

Length of CDS

1731

Coding sequence (CDS) position

636

cDNA position

1240

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_9_ENST00000703371

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 156|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

no data

Ensembl transcript ID

ENST00000703371.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.636C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MTKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKLIQDSRR ETKNVASGGG GVGDGVQEPT TGNWRGMLKT
SKAEELLAEE KSKPIPIMPA SPQKGHAVNL LDVPVPVARK LSAREQRDCE VIERLIKSYF
LIVRKNIQDS VPKAVMHFLV NHVKDTLQSE LVGQLYKSSL LDDLLTESED MAQRRKEAAD
MLKALQGASQ IIAEIRETHL W*

Mutated AA sequence

MTKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKLIQDSRR ETKNVASGGG GVGDGVQEPT TGNWRGMLKT
SKAEELLAEE KSKPIPIMPA SPQKGHAVNL LDVPVPVARK LSAREQRDCE VIERLIKSYF
LIVRKNIQDS VPKAVMHFLV NHVKDTLQSE LVGQLYKSSL LDDLLTESED MAQRRKEAAD
MLKALQGASQ IIAEIRETHL W*

Position of stopcodon in wt / mu CDS

1686 / 1686

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

562 / 562

Position of stopcodon in wt / mu cDNA

2290 / 2290

Position of start ATG in wt / mu cDNA

605 / 605

Last intron/exon boundary

2233

Theoretical NMD boundary in CDS

1578

Length of CDS

1686

Coding sequence (CDS) position

636

cDNA position

1240

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_10_ENST00000381000

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 51|149 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

LOEUF: 0.52, LOF (oe): 0.39, misssense (oe): 0.52, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000381000.8

Genbank transcript ID

NM_001278465 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1122C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENDPATWKN SRHLSKGVEA EEWGKFLHTK NKLYTDFDEI
RQEIENETER ISGNNKGVSP EPIHLKIFSP NVVNLTLVDL PGMTKVPVGD QPKDIELQIR
ELILRFISNP NSIILAVTAA NTDMATSEAL KISREVDPDG RRTLAVITKL DLMDAGTDAM
DVLMGRVIPV KLGIIGVVNR SQLDINNKKS VTDSIRDEYA FLQKKYPSLA NRNGTKYLAR
TLNRLLMHHI RDCLPELKTR INVLAAQYQS LLNSYGEPVD DKSATLLQLI TKFATEYCNT
IEGTAKYIET SELCGGARIC YIFHETFGRT LESVDPLGGL NTIDILTAIR NATGPRPALF
VPEVSFELLV KRQIKRLEEP SLRCVELVHE EMQRIIQHCS NYSTQELLRF PKLHDAIVEV
VTCLLRKRLP VTNEMVHNLV AIELAYINTK HPDFADACGL MNNNIEEQRR NRLARELPSA
VSRDKSSKVP SALAPASQEP SPAASAEADG KVASGGGGVG DGVQEPTTGN WRGMLKTSKA
EELLAEEKSK PIPIMPASPQ KGHAVNLLDV PVPVARKLSA REQRDCEVIE RLIKSYFLIV
RKNIQDSVPK AVMHFLVNHV KDTLQSELVG QLYKSSLLDD LLTESEDMAQ RRKEAADMLK
ALQGASQIIA EIRETHLW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENDPATWKN SRHLSKGVEA EEWGKFLHTK NKLYTDFDEI
RQEIENETER ISGNNKGVSP EPIHLKIFSP NVVNLTLVDL PGMTKVPVGD QPKDIELQIR
ELILRFISNP NSIILAVTAA NTDMATSEAL KISREVDPDG RRTLAVITKL DLMDAGTDAM
DVLMGRVIPV KLGIIGVVNR SQLDINNKKS VTDSIRDEYA FLQKKYPSLA NRNGTKYLAR
TLNRLLMHHI RDCLPELKTR INVLAAQYQS LLNSYGEPVD DKSATLLQLI TKFATEYCNT
IEGTAKYIET SELCGGARIC YIFHETFGRT LESVDPLGGL NTIDILTAIR NATGPRPALF
VPEVSFELLV KRQIKRLEEP SLRCVELVHE EMQRIIQHCS NYSTQELLRF PKLHDAIVEV
VTCLLRKRLP VTNEMVHNLV AIELAYINTK HPDFADACGL MNNNIEEQRR NRLARELPSA
VSRDKSSKVP SALAPASQEP SPAASAEADG KVASGGGGVG DGVQEPTTGN WRGMLKTSKA
EELLAEEKSK PIPIMPASPQ KGHAVNLLDV PVPVARKLSA REQRDCEVIE RLIKSYFLIV
RKNIQDSVPK AVMHFLVNHV KDTLQSELVG QLYKSSLLDD LLTESEDMAQ RRKEAADMLK
ALQGASQIIA EIRETHLW*

Position of stopcodon in wt / mu CDS

2217 / 2217

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

739 / 739

Position of stopcodon in wt / mu cDNA

2258 / 2258

Position of start ATG in wt / mu cDNA

42 / 42

Last intron/exon boundary

2201

Theoretical NMD boundary in CDS

2109

Length of CDS

2217

Coding sequence (CDS) position

1122

cDNA position

1163

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_12_ENST00000553257

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 51|149 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

LOEUF: 0.52, LOF (oe): 0.39, misssense (oe): 0.52, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000553257.6

Genbank transcript ID

NM_001278464 (exact from MANE), NM_001278466 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1122C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENDPATWKN SRHLSKGVEA EEWGKFLHTK NKLYTDFDEI
RQEIENETER ISGNNKGVSP EPIHLKIFSP NVVNLTLVDL PGMTKVPVGD QPKDIELQIR
ELILRFISNP NSIILAVTAA NTDMATSEAL KISREVDPDG RRTLAVITKL DLMDAGTDAM
DVLMGRVIPV KLGIIGVVNR SQLDINNKKS VTDSIRDEYA FLQKKYPSLA NRNGTKYLAR
TLNRLLMHHI RDCLPELKTR INVLAAQYQS LLNSYGEPVD DKSATLLQLI TKFATEYCNT
IEGTAKYIET SELCGGARIC YIFHETFGRT LESVDPLGGL NTIDILTAIR NATGPRPALF
VPEVSFELLV KRQIKRLEEP SLRCVELVHE EMQRIIQHCS NYSTQELLRF PKLHDAIVEV
VTCLLRKRLP VTNEMVHNLV AIELAYINTK HPDFADACGL MNNNIEEQRR NRLARELPSA
VSRDKSSKVP SALAPASQEP SPAASAEADG KLIQDSRRET KNVASGGGGV GDGVQEPTTG
NWRGMLKTSK AEELLAEEKS KPIPIMPASP QKGHAVNLLD VPVPVARKLS AREQRDCEVI
ERLIKSYFLI VRKNIQDSVP KAVMHFLVNH VKDTLQSELV GQLYKSSLLD DLLTESEDMA
QRRKEAADML KALQGASQII AEIRETHLW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENDPATWKN SRHLSKGVEA EEWGKFLHTK NKLYTDFDEI
RQEIENETER ISGNNKGVSP EPIHLKIFSP NVVNLTLVDL PGMTKVPVGD QPKDIELQIR
ELILRFISNP NSIILAVTAA NTDMATSEAL KISREVDPDG RRTLAVITKL DLMDAGTDAM
DVLMGRVIPV KLGIIGVVNR SQLDINNKKS VTDSIRDEYA FLQKKYPSLA NRNGTKYLAR
TLNRLLMHHI RDCLPELKTR INVLAAQYQS LLNSYGEPVD DKSATLLQLI TKFATEYCNT
IEGTAKYIET SELCGGARIC YIFHETFGRT LESVDPLGGL NTIDILTAIR NATGPRPALF
VPEVSFELLV KRQIKRLEEP SLRCVELVHE EMQRIIQHCS NYSTQELLRF PKLHDAIVEV
VTCLLRKRLP VTNEMVHNLV AIELAYINTK HPDFADACGL MNNNIEEQRR NRLARELPSA
VSRDKSSKVP SALAPASQEP SPAASAEADG KLIQDSRRET KNVASGGGGV GDGVQEPTTG
NWRGMLKTSK AEELLAEEKS KPIPIMPASP QKGHAVNLLD VPVPVARKLS AREQRDCEVI
ERLIKSYFLI VRKNIQDSVP KAVMHFLVNH VKDTLQSELV GQLYKSSLLD DLLTESEDMA
QRRKEAADML KALQGASQII AEIRETHLW*

Position of stopcodon in wt / mu CDS

2250 / 2250

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

750 / 750

Position of stopcodon in wt / mu cDNA

2313 / 2313

Position of start ATG in wt / mu cDNA

64 / 64

Last intron/exon boundary

2256

Theoretical NMD boundary in CDS

2142

Length of CDS

2250

Coding sequence (CDS) position

1122

cDNA position

1185

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_3_ENST00000547312

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 52|148 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

LOEUF: 0.50, LOF (oe): 0.37, misssense (oe): 0.51, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000547312.5

Genbank transcript ID

NM_001278463 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1083C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKSSKVPSAL
APASQEPSPA ASAEADGKVA SGGGGVGDGV QEPTTGNWRG MLKTSKAEEL LAEEKSKPIP
IMPASPQKGH AVNLLDVPVP VARKLSAREQ RDCEVIERLI KSYFLIVRKN IQDSVPKAVM
HFLVNHVKDT LQSELVGQLY KSSLLDDLLT ESEDMAQRRK EAADMLKALQ GASQIIAEIR
ETHLW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKSSKVPSAL
APASQEPSPA ASAEADGKVA SGGGGVGDGV QEPTTGNWRG MLKTSKAEEL LAEEKSKPIP
IMPASPQKGH AVNLLDVPVP VARKLSAREQ RDCEVIERLI KSYFLIVRKN IQDSVPKAVM
HFLVNHVKDT LQSELVGQLY KSSLLDDLLT ESEDMAQRRK EAADMLKALQ GASQIIAEIR
ETHLW*

Position of stopcodon in wt / mu CDS

2178 / 2178

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

726 / 726

Position of stopcodon in wt / mu cDNA

2222 / 2222

Position of start ATG in wt / mu cDNA

45 / 45

Last intron/exon boundary

2165

Theoretical NMD boundary in CDS

2070

Length of CDS

2178

Coding sequence (CDS) position

1083

cDNA position

1127

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_13_ENST00000549701

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 53|147 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

LOEUF: 0.51, LOF (oe): 0.38, misssense (oe): 0.51, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000549701.6

Genbank transcript ID

NM_012062 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1083C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKSSKVPSAL
APASQEPSPA ASAEADGKLI QDSRRETKNV ASGGGGVGDG VQEPTTGNWR GMLKTSKAEE
LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE QRDCEVIERL IKSYFLIVRK
NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL TESEDMAQRR KEAADMLKAL
QGASQIIAEI RETHLW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKSSKVPSAL
APASQEPSPA ASAEADGKLI QDSRRETKNV ASGGGGVGDG VQEPTTGNWR GMLKTSKAEE
LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE QRDCEVIERL IKSYFLIVRK
NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL TESEDMAQRR KEAADMLKAL
QGASQIIAEI RETHLW*

Position of stopcodon in wt / mu CDS

2211 / 2211

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

737 / 737

Position of stopcodon in wt / mu cDNA

2274 / 2274

Position of start ATG in wt / mu cDNA

64 / 64

Last intron/exon boundary

2217

Theoretical NMD boundary in CDS

2103

Length of CDS

2211

Coding sequence (CDS) position

1083

cDNA position

1146

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_15_ENST00000358214

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 53|147 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

LOEUF: 0.50, LOF (oe): 0.36, misssense (oe): 0.49, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000358214.9

Genbank transcript ID

NM_001330380 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1122C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENDPATWKN SRHLSKGVEA EEWGKFLHTK NKLYTDFDEI
RQEIENETER ISGNNKGVSP EPIHLKIFSP NVVNLTLVDL PGMTKVPVGD QPKDIELQIR
ELILRFISNP NSIILAVTAA NTDMATSEAL KISREVDPDG RRTLAVITKL DLMDAGTDAM
DVLMGRVIPV KLGIIGVVNR SQLDINNKKS VTDSIRDEYA FLQKKYPSLA NRNGTKYLAR
TLNRLLMHHI RDCLPELKTR INVLAAQYQS LLNSYGEPVD DKSATLLQLI TKFATEYCNT
IEGTAKYIET SELCGGARIC YIFHETFGRT LESVDPLGGL NTIDILTAIR NATGPRPALF
VPEVSFELLV KRQIKRLEEP SLRCVELVHE EMQRIIQHCS NYSTQELLRF PKLHDAIVEV
VTCLLRKRLP VTNEMVHNLV AIELAYINTK HPDFADACGL MNNNIEEQRR NRLARELPSA
VSRDKVASGG GGVGDGVQEP TTGNWRGMLK TSKAEELLAE EKSKPIPIMP ASPQKGHAVN
LLDVPVPVAR KLSAREQRDC EVIERLIKSY FLIVRKNIQD SVPKAVMHFL VNHVKDTLQS
ELVGQLYKSS LLDDLLTESE DMAQRRKEAA DMLKALQGAS QIIAEIRETH LW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENDPATWKN SRHLSKGVEA EEWGKFLHTK NKLYTDFDEI
RQEIENETER ISGNNKGVSP EPIHLKIFSP NVVNLTLVDL PGMTKVPVGD QPKDIELQIR
ELILRFISNP NSIILAVTAA NTDMATSEAL KISREVDPDG RRTLAVITKL DLMDAGTDAM
DVLMGRVIPV KLGIIGVVNR SQLDINNKKS VTDSIRDEYA FLQKKYPSLA NRNGTKYLAR
TLNRLLMHHI RDCLPELKTR INVLAAQYQS LLNSYGEPVD DKSATLLQLI TKFATEYCNT
IEGTAKYIET SELCGGARIC YIFHETFGRT LESVDPLGGL NTIDILTAIR NATGPRPALF
VPEVSFELLV KRQIKRLEEP SLRCVELVHE EMQRIIQHCS NYSTQELLRF PKLHDAIVEV
VTCLLRKRLP VTNEMVHNLV AIELAYINTK HPDFADACGL MNNNIEEQRR NRLARELPSA
VSRDKVASGG GGVGDGVQEP TTGNWRGMLK TSKAEELLAE EKSKPIPIMP ASPQKGHAVN
LLDVPVPVAR KLSAREQRDC EVIERLIKSY FLIVRKNIQD SVPKAVMHFL VNHVKDTLQS
ELVGQLYKSS LLDDLLTESE DMAQRRKEAA DMLKALQGAS QIIAEIRETH LW*

Position of stopcodon in wt / mu CDS

2139 / 2139

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

713 / 713

Position of stopcodon in wt / mu cDNA

2211 / 2211

Position of start ATG in wt / mu cDNA

73 / 73

Last intron/exon boundary

2154

Theoretical NMD boundary in CDS

2031

Length of CDS

2139

Coding sequence (CDS) position

1122

cDNA position

1194

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_1_ENST00000452533

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 62|138 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

LOEUF: 0.48, LOF (oe): 0.35, misssense (oe): 0.48, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000452533.6

Genbank transcript ID

NM_012063 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1083C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKLIQDSRRE
TKNVASGGGG VGDGVQEPTT GNWRGMLKTS KAEELLAEEK SKPIPIMPAS PQKGHAVNLL
DVPVPVARKL SAREQRDCEV IERLIKSYFL IVRKNIQDSV PKAVMHFLVN HVKDTLQSEL
VGQLYKSSLL DDLLTESEDM AQRRKEAADM LKALQGASQI IAEIRETHLW *

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKLIQDSRRE
TKNVASGGGG VGDGVQEPTT GNWRGMLKTS KAEELLAEEK SKPIPIMPAS PQKGHAVNLL
DVPVPVARKL SAREQRDCEV IERLIKSYFL IVRKNIQDSV PKAVMHFLVN HVKDTLQSEL
VGQLYKSSLL DDLLTESEDM AQRRKEAADM LKALQGASQI IAEIRETHLW *

Position of stopcodon in wt / mu CDS

2133 / 2133

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

711 / 711

Position of stopcodon in wt / mu cDNA

2297 / 2297

Position of start ATG in wt / mu cDNA

165 / 165

Last intron/exon boundary

2240

Theoretical NMD boundary in CDS

2025

Length of CDS

2133

Coding sequence (CDS) position

1083

cDNA position

1247

gDNA position

51818

Chromosomal position

32731017

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

MutationT@ster 2025

Variant:

12:32731017C>T_11_ENST00000266481

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 64|136 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

LOEUF: 0.48, LOF (oe): 0.34, misssense (oe): 0.48, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000266481.10

Genbank transcript ID

NM_005690 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1083C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKVASGGGGV
GDGVQEPTTG NWRGMLKTSK AEELLAEEKS KPIPIMPASP QKGHAVNLLD VPVPVARKLS
AREQRDCEVI ERLIKSYFLI VRKNIQDSVP KAVMHFLVNH VKDTLQSELV GQLYKSSLLD
DLLTESEDMA QRRKEAADML KALQGASQII AEIRETHLW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKVASGGGGV
GDGVQEPTTG NWRGMLKTSK AEELLAEEKS KPIPIMPASP QKGHAVNLLD VPVPVARKLS
AREQRDCEVI ERLIKSYFLI VRKNIQDSVP KAVMHFLVNH VKDTLQSELV GQLYKSSLLD
DLLTESEDMA QRRKEAADML KALQGASQII AEIRETHLW*

Position of stopcodon in wt / mu CDS

2100 / 2100

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

700 / 700

Position of stopcodon in wt / mu cDNA

2161 / 2161

Position of start ATG in wt / mu cDNA

62 / 62

Last intron/exon boundary

2104

Theoretical NMD boundary in CDS

1992

Length of CDS

2100

Coding sequence (CDS) position

1083

cDNA position

1144

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_14_ENST00000551476

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 76|124 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

LOEUF: 0.89, LOF (oe): 0.49, misssense (oe): 0.59, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000551476.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1032C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRDPATWKN
SRHLSKGVEA EEWGKFLHTK NKLYTDFDEI RQEIENETER ISGNNKGVSP EPIHLKIFSP
NVVNLTLVDL PGMTKVPVGD QPKDIELQIR ELILRFISNP NSIILAVTAA NTDMATSEAL
KISREVDPDG RRTLAVITKL DLMDAGTDAM DVLMGRVIPV KLGIIGVVNR SQLDINNKKS
VTDSIRDEYA FLQKKYPSLA NRNGTKYLAR TLNRLLMHHI RDCLPELKTR INVLAAQYQS
LLNSYGEPVD DKSATLLQLI TKFATEYCNT IEGTAKYIET SELCGGARIC YIFHETFGRT
LESVDPLGGL NTIDILTAIR NATGPRPALF VPEVSFELLV KRQIKRLEEP SLRCVELVHE
EMQRIIQHCS NYSTQELLRF PKLHDAIVEV VTCLLRKRLP VTNEMVHNLV AIELAYINTK
HPDFADACGL MNNNIEEQRR NRLARELPSA VSRDKSSKVP SALAPASQEP SPAASAEADG
KLIQDSRRET KNVASGGGGV GDGVQEPTTG NWRGMLKTSK AEELLAEEKS KPIPIMPASP
QKGHAVNLLD VPVPVARKLS AREQRDCEVI ERLIKSYFLI VRKNIQDSVP KAVMHFLVNH
VKDTLQSELV GQLYKSSLLD DLLTESEDMA QRRKEAADML KALQGASQII AEIRETHLW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRDPATWKN
SRHLSKGVEA EEWGKFLHTK NKLYTDFDEI RQEIENETER ISGNNKGVSP EPIHLKIFSP
NVVNLTLVDL PGMTKVPVGD QPKDIELQIR ELILRFISNP NSIILAVTAA NTDMATSEAL
KISREVDPDG RRTLAVITKL DLMDAGTDAM DVLMGRVIPV KLGIIGVVNR SQLDINNKKS
VTDSIRDEYA FLQKKYPSLA NRNGTKYLAR TLNRLLMHHI RDCLPELKTR INVLAAQYQS
LLNSYGEPVD DKSATLLQLI TKFATEYCNT IEGTAKYIET SELCGGARIC YIFHETFGRT
LESVDPLGGL NTIDILTAIR NATGPRPALF VPEVSFELLV KRQIKRLEEP SLRCVELVHE
EMQRIIQHCS NYSTQELLRF PKLHDAIVEV VTCLLRKRLP VTNEMVHNLV AIELAYINTK
HPDFADACGL MNNNIEEQRR NRLARELPSA VSRDKSSKVP SALAPASQEP SPAASAEADG
KLIQDSRRET KNVASGGGGV GDGVQEPTTG NWRGMLKTSK AEELLAEEKS KPIPIMPASP
QKGHAVNLLD VPVPVARKLS AREQRDCEVI ERLIKSYFLI VRKNIQDSVP KAVMHFLVNH
VKDTLQSELV GQLYKSSLLD DLLTESEDMA QRRKEAADML KALQGASQII AEIRETHLW*

Position of stopcodon in wt / mu CDS

2160 / 2160

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

720 / 720

Position of stopcodon in wt / mu cDNA

2223 / 2223

Position of start ATG in wt / mu cDNA

64 / 64

Last intron/exon boundary

2166

Theoretical NMD boundary in CDS

2052

Length of CDS

2160

Coding sequence (CDS) position

1032

cDNA position

1095

gDNA position

51818

Chromosomal position

32731017

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:

12:32731017C>T_4_ENST00000548750

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Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 87|113 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:32731017C>T (GRCh38)

Gene symbol

DNM1L

Gene constraints

LOEUF: 0.70, LOF (oe): 0.39, misssense (oe): 0.49, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000548750.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.996C>T
g.51818C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202245702
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	231	231

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.743	1
	-1.598	0.001
(flanking)	9.743	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

12

Strand

1

Original gDNA sequence snippet

ACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTA

Altered gDNA sequence snippet

ACTTCATTGCCTTTCAGATGTGGTGGTGCTAGAATTTGTTA

Original cDNA sequence snippet

ATTGAAACTTCGGAGCTATGCGGTGGTGCTAGAATTTGTTA

Altered cDNA sequence snippet

ATTGAAACTTCGGAGCTATGTGGTGGTGCTAGAATTTGTTA

Wildtype AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKSSKVPSA LAPASQEPSP AASAEADGKV ASGGGGVGDG
VQEPTTGNWR GMLKTSKAEE LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE
QRDCEVIERL IKSYFLIVRK NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL
TESEDMAQRR KEAADMLKAL QGASQIIAEI RETHLW*

Mutated AA sequence

MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
NNKVPVGDQP KDIELQIREL ILRFISNPNS IILAVTAANT DMATSEALKI SREVDPDGRR
TLAVITKLDL MDAGTDAMDV LMGRVIPVKL GIIGVVNRSQ LDINNKKSVT DSIRDEYAFL
QKKYPSLANR NGTKYLARTL NRLLMHHIRD CLPELKTRIN VLAAQYQSLL NSYGEPVDDK
SATLLQLITK FATEYCNTIE GTAKYIETSE LCGGARICYI FHETFGRTLE SVDPLGGLNT
IDILTAIRNA TGPRPALFVP EVSFELLVKR QIKRLEEPSL RCVELVHEEM QRIIQHCSNY
STQELLRFPK LHDAIVEVVT CLLRKRLPVT NEMVHNLVAI ELAYINTKHP DFADACGLMN
NNIEEQRRNR LARELPSAVS RDKSSKVPSA LAPASQEPSP AASAEADGKV ASGGGGVGDG
VQEPTTGNWR GMLKTSKAEE LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE
QRDCEVIERL IKSYFLIVRK NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL
TESEDMAQRR KEAADMLKAL QGASQIIAEI RETHLW*

Position of stopcodon in wt / mu CDS

2091 / 2091

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

697 / 697

Position of stopcodon in wt / mu cDNA

2119 / 2119

Position of start ATG in wt / mu cDNA

29 / 29

Last intron/exon boundary

2062

Theoretical NMD boundary in CDS

1983

Length of CDS

2091

Coding sequence (CDS) position

996

cDNA position

1024

gDNA position

51818

Chromosomal position

32731017

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

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